Mutagenetix > Incidental Mutation

Incidental Mutation 'R0324:Abca13'

26367

Institutional Source

Beutler Lab

Gene Symbol

Abca13

Ensembl Gene

ENSMUSG00000004668

Gene Name

ATP-binding cassette, sub-family A member 13

Synonyms

A930002G16Rik

MMRRC Submission

038534-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0324 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

9141942-9634259 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 9247669 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 2472 (M2472K)

Ref Sequence

ENSEMBL: ENSMUSP00000040465 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042740]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042740
AA Change: M2472K

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000040465
Gene: ENSMUSG00000004668
AA Change: M2472K

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
low complexity region	358	379	N/A	INTRINSIC
low complexity region	441	451	N/A	INTRINSIC
low complexity region	820	831	N/A	INTRINSIC
low complexity region	1382	1393	N/A	INTRINSIC
low complexity region	1721	1737	N/A	INTRINSIC
low complexity region	1859	1872	N/A	INTRINSIC
Pfam:ABC2_membrane_3	3288	3740	4.7e-21	PFAM
low complexity region	3796	3809	N/A	INTRINSIC
AAA	3835	4019	8.08e-12	SMART
transmembrane domain	4206	4228	N/A	INTRINSIC
Pfam:ABC2_membrane_3	4317	4646	1.6e-33	PFAM
AAA	4721	4909	8.86e-9	SMART

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 96.1%
20x: 93.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] In human, the ATP-binding cassette (ABC) family of transmembrane transporters has at least 48 genes and 7 gene subfamilies. This gene is a member of ABC gene subfamily A (ABCA). Genes within the ABCA family typically encode several thousand amino acids. Like other ABC transmembrane transporter proteins, this protein has 12 or more transmembrane alpha-helix domains that likely arrange to form a single central chamber with multiple substrate binding sites. It is also predicted to have two large extracellular domains and two nucleotide binding domains as is typical for ABCA proteins. Alternative splice variants have been described but their biological validity has not been demonstrated.[provided by RefSeq, Mar 2009]

Allele List at MGI

All alleles(3) : Targeted(3)

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	C	17: 9,219,989 (GRCm39)	L357S	probably benign	Het
1700129C05Rik	C	T	14: 59,380,256 (GRCm39)	R14H	probably damaging	Het
Aatf	A	G	11: 84,402,965 (GRCm39)		probably null	Het
Abcd3	C	A	3: 121,562,816 (GRCm39)	Q540H	probably null	Het
Adam17	C	T	12: 21,399,939 (GRCm39)	V156I	probably benign	Het
Adam26a	A	G	8: 44,021,490 (GRCm39)	S667P	probably benign	Het
Adcy10	A	G	1: 165,391,818 (GRCm39)	K1333E	probably benign	Het
Apob	G	A	12: 8,060,521 (GRCm39)	R2968Q	probably benign	Het
Arap3	G	A	18: 38,106,278 (GRCm39)	P1522S	possibly damaging	Het
Catsper1	A	T	19: 5,386,573 (GRCm39)	S269C	probably damaging	Het
Cd209d	A	T	8: 3,928,258 (GRCm39)	S42R	probably benign	Het
Cntln	T	A	4: 85,010,932 (GRCm39)	V1049E	probably damaging	Het
Cracr2b	T	C	7: 141,043,659 (GRCm39)	F87L	probably damaging	Het
Crb3	T	C	17: 57,372,133 (GRCm39)	L60P	probably damaging	Het
Crispld1	T	C	1: 17,819,815 (GRCm39)	V271A	probably benign	Het
Cyp2c66	G	T	19: 39,165,135 (GRCm39)	R372L	probably benign	Het
Deup1	G	A	9: 15,493,829 (GRCm39)	R438W	probably benign	Het
Dnah6	C	T	6: 73,150,541 (GRCm39)	E741K	possibly damaging	Het
Epha4	T	C	1: 77,360,188 (GRCm39)	E703G	probably damaging	Het
Evc2	G	A	5: 37,550,443 (GRCm39)	R819H	probably damaging	Het
Fam217a	A	C	13: 35,094,944 (GRCm39)	C272G	possibly damaging	Het
Fndc7	T	C	3: 108,784,015 (GRCm39)		probably null	Het
Foxs1	C	T	2: 152,774,607 (GRCm39)	G149S	probably benign	Het
Galnt13	T	C	2: 54,744,628 (GRCm39)	V109A	probably benign	Het
Hmgxb4	G	A	8: 75,725,556 (GRCm39)	M7I	probably benign	Het
Klk1b1	T	A	7: 43,620,165 (GRCm39)	C209*	probably null	Het
Klra10	A	G	6: 130,249,613 (GRCm39)		probably null	Het
Kntc1	A	T	5: 123,916,175 (GRCm39)	K701N	probably damaging	Het
Lpgat1	T	A	1: 191,481,754 (GRCm39)	L114Q	probably damaging	Het
Mecom	T	A	3: 30,017,261 (GRCm39)	Q468L	probably damaging	Het
Med15	T	C	16: 17,515,476 (GRCm39)	T70A	probably damaging	Het
Msh6	T	A	17: 88,294,048 (GRCm39)	Y934*	probably null	Het
Mtus1	T	C	8: 41,537,432 (GRCm39)	T95A	probably benign	Het
Mylk3	C	A	8: 86,079,535 (GRCm39)	R444S	probably damaging	Het
Nbea	A	G	3: 55,965,369 (GRCm39)		probably null	Het
Nbeal1	T	C	1: 60,332,032 (GRCm39)	V2242A	probably damaging	Het
Nhp2	A	G	11: 51,513,334 (GRCm39)	T85A	possibly damaging	Het
Nlk	A	G	11: 78,463,257 (GRCm39)	S413P	possibly damaging	Het
Nmbr	A	G	10: 14,636,192 (GRCm39)	I54V	possibly damaging	Het
Nmur2	A	T	11: 55,931,346 (GRCm39)	C122S	probably damaging	Het
Nudt13	G	T	14: 20,361,583 (GRCm39)	V220L	probably damaging	Het
Or5m13	G	A	2: 85,748,295 (GRCm39)	V9M	probably benign	Het
Pclo	G	A	5: 14,719,447 (GRCm39)	G1195R	unknown	Het
Pcsk7	A	G	9: 45,824,309 (GRCm39)	H276R	possibly damaging	Het
Pdss2	T	C	10: 43,269,924 (GRCm39)	S256P	probably damaging	Het
Pgf	G	T	12: 85,218,198 (GRCm39)	H116N	probably benign	Het
Pglyrp2	T	C	17: 32,637,302 (GRCm39)	D242G	probably benign	Het
Plk2	G	A	13: 110,534,242 (GRCm39)	R274K	probably benign	Het
Ppp6r3	G	T	19: 3,514,693 (GRCm39)	P141T	probably benign	Het
Prss54	T	C	8: 96,292,295 (GRCm39)	T95A	probably benign	Het
Rab3il1	A	G	19: 10,005,653 (GRCm39)	D149G	probably damaging	Het
Rasgef1c	T	C	11: 49,852,057 (GRCm39)		probably null	Het
Rhpn1	T	C	15: 75,583,437 (GRCm39)	M334T	probably damaging	Het
Rigi	T	C	4: 40,213,766 (GRCm39)	T586A	probably benign	Het
Robo2	C	T	16: 73,764,739 (GRCm39)	V630M	probably damaging	Het
Rptor	C	T	11: 119,783,467 (GRCm39)	R1154W	probably damaging	Het
Scnn1g	A	G	7: 121,339,778 (GRCm39)	I192M	possibly damaging	Het
Sit1	G	A	4: 43,482,815 (GRCm39)	Q115*	probably null	Het
Slc13a2	T	C	11: 78,295,350 (GRCm39)	N141S	probably damaging	Het
Slc19a2	C	A	1: 164,084,344 (GRCm39)	T78K	probably damaging	Het
Snx14	A	G	9: 88,287,291 (GRCm39)		probably null	Het
Stil	T	A	4: 114,896,346 (GRCm39)	C944S	probably benign	Het
Tex56	A	G	13: 35,108,596 (GRCm39)	N26S	probably benign	Het
Tnfaip2	A	G	12: 111,419,893 (GRCm39)	N675S	probably damaging	Het
Trim30c	A	G	7: 104,032,516 (GRCm39)	I270T	possibly damaging	Het
Ugt2a3	C	T	5: 87,474,932 (GRCm39)		probably null	Het
Vmn1r213	A	T	13: 23,195,588 (GRCm39)		probably benign	Het
Vmn2r8	A	C	5: 108,945,807 (GRCm39)		probably null	Het
Vps13c	T	C	9: 67,871,591 (GRCm39)	F3253L	possibly damaging	Het
Zbtb16	G	T	9: 48,576,575 (GRCm39)	Q502K	possibly damaging	Het
Zfp143	A	G	7: 109,676,354 (GRCm39)	K218E	possibly damaging	Het
Zfp946	A	G	17: 22,673,417 (GRCm39)	N57S	probably benign	Het
Zfp985	T	C	4: 147,667,314 (GRCm39)	Y61H	probably benign	Het
Zkscan1	G	A	5: 138,095,785 (GRCm39)	R246Q	probably damaging	Het
Zpld1	A	G	16: 55,071,978 (GRCm39)	F94L	probably damaging	Het
Zswim5	G	T	4: 116,844,103 (GRCm39)	W1047L	probably damaging	Het

Other mutations in Abca13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Abca13	APN	11	9,247,443 (GRCm39)	missense	probably benign	0.24
IGL00481:Abca13	APN	11	9,240,969 (GRCm39)	missense	probably damaging	0.99
IGL00707:Abca13	APN	11	9,241,586 (GRCm39)	missense	probably damaging	0.99
IGL00755:Abca13	APN	11	9,492,102 (GRCm39)	missense	possibly damaging	0.87
IGL00771:Abca13	APN	11	9,240,870 (GRCm39)	missense	probably damaging	1.00
IGL00802:Abca13	APN	11	9,247,717 (GRCm39)	missense	probably damaging	0.96
IGL00807:Abca13	APN	11	9,328,285 (GRCm39)	missense	probably benign	0.10
IGL00977:Abca13	APN	11	9,349,284 (GRCm39)	missense	probably damaging	1.00
IGL01064:Abca13	APN	11	9,433,855 (GRCm39)	missense	probably benign	0.01
IGL01100:Abca13	APN	11	9,224,673 (GRCm39)	splice site	probably null
IGL01290:Abca13	APN	11	9,206,232 (GRCm39)	missense	probably damaging	1.00
IGL01299:Abca13	APN	11	9,248,743 (GRCm39)	missense	probably benign	0.22
IGL01302:Abca13	APN	11	9,349,470 (GRCm39)	splice site	probably benign
IGL01307:Abca13	APN	11	9,247,159 (GRCm39)	missense	possibly damaging	0.86
IGL01349:Abca13	APN	11	9,242,076 (GRCm39)	missense	probably benign	0.05
IGL01351:Abca13	APN	11	9,217,565 (GRCm39)	missense	probably benign	0.28
IGL01446:Abca13	APN	11	9,353,834 (GRCm39)	missense	probably damaging	0.97
IGL01453:Abca13	APN	11	9,353,834 (GRCm39)	missense	probably damaging	0.97
IGL01461:Abca13	APN	11	9,353,834 (GRCm39)	missense	probably damaging	0.97
IGL01476:Abca13	APN	11	9,353,834 (GRCm39)	missense	probably damaging	0.97
IGL01506:Abca13	APN	11	9,247,447 (GRCm39)	missense	probably benign	0.36
IGL01527:Abca13	APN	11	9,240,788 (GRCm39)	missense	possibly damaging	0.49
IGL01559:Abca13	APN	11	9,259,020 (GRCm39)	missense	possibly damaging	0.82
IGL01580:Abca13	APN	11	9,243,527 (GRCm39)	missense	probably benign	0.00
IGL01679:Abca13	APN	11	9,248,071 (GRCm39)	missense	probably benign	0.07
IGL01731:Abca13	APN	11	9,199,749 (GRCm39)	splice site	probably benign
IGL01762:Abca13	APN	11	9,265,423 (GRCm39)	missense	probably benign	0.18
IGL01781:Abca13	APN	11	9,349,280 (GRCm39)	missense	probably damaging	1.00
IGL01802:Abca13	APN	11	9,242,438 (GRCm39)	missense	probably benign	0.00
IGL01809:Abca13	APN	11	9,240,339 (GRCm39)	missense	probably damaging	0.96
IGL01906:Abca13	APN	11	9,166,225 (GRCm39)	missense	probably damaging	1.00
IGL01928:Abca13	APN	11	9,633,342 (GRCm39)	missense	probably benign	0.13
IGL01940:Abca13	APN	11	9,517,661 (GRCm39)	splice site	probably benign
IGL01993:Abca13	APN	11	9,208,452 (GRCm39)	unclassified	probably benign
IGL02039:Abca13	APN	11	9,247,193 (GRCm39)	nonsense	probably null
IGL02159:Abca13	APN	11	9,264,545 (GRCm39)	missense	probably benign	0.00
IGL02202:Abca13	APN	11	9,238,529 (GRCm39)	missense	possibly damaging	0.55
IGL02268:Abca13	APN	11	9,240,626 (GRCm39)	missense	probably benign	0.00
IGL02332:Abca13	APN	11	9,241,482 (GRCm39)	missense	probably damaging	0.98
IGL02380:Abca13	APN	11	9,241,599 (GRCm39)	missense	possibly damaging	0.73
IGL02466:Abca13	APN	11	9,247,527 (GRCm39)	missense	probably benign	0.00
IGL02505:Abca13	APN	11	9,531,498 (GRCm39)	missense	probably damaging	1.00
IGL02507:Abca13	APN	11	9,349,388 (GRCm39)	missense	probably damaging	1.00
IGL02558:Abca13	APN	11	9,349,387 (GRCm39)	missense	probably damaging	1.00
IGL02581:Abca13	APN	11	9,349,132 (GRCm39)	splice site	probably benign
IGL02586:Abca13	APN	11	9,243,983 (GRCm39)	missense	possibly damaging	0.56
IGL02598:Abca13	APN	11	9,381,898 (GRCm39)	missense	probably damaging	1.00
IGL02747:Abca13	APN	11	9,323,282 (GRCm39)	nonsense	probably null
IGL02893:Abca13	APN	11	9,240,543 (GRCm39)	missense	probably damaging	0.96
IGL02930:Abca13	APN	11	9,328,226 (GRCm39)	missense	possibly damaging	0.86
IGL02967:Abca13	APN	11	9,328,291 (GRCm39)	missense	probably damaging	0.99
IGL02983:Abca13	APN	11	9,240,663 (GRCm39)	missense	probably benign	0.40
IGL02999:Abca13	APN	11	9,531,757 (GRCm39)	splice site	probably benign
IGL03100:Abca13	APN	11	9,208,527 (GRCm39)	missense	probably benign	0.25
IGL03114:Abca13	APN	11	9,478,999 (GRCm39)	missense	probably benign	0.06
IGL03230:Abca13	APN	11	9,244,313 (GRCm39)	missense	probably benign	0.02
IGL03329:Abca13	APN	11	9,248,047 (GRCm39)	missense	probably benign	0.08
IGL03380:Abca13	APN	11	9,248,574 (GRCm39)	missense	probably benign	0.10
IGL02835:Abca13	UTSW	11	9,401,515 (GRCm39)	missense	probably damaging	1.00
PIT4366001:Abca13	UTSW	11	9,244,962 (GRCm39)	missense	probably benign
PIT4458001:Abca13	UTSW	11	9,248,304 (GRCm39)	missense	probably benign	0.05
R0017:Abca13	UTSW	11	9,242,775 (GRCm39)	missense	probably damaging	0.99
R0079:Abca13	UTSW	11	9,243,493 (GRCm39)	missense	probably benign	0.00
R0089:Abca13	UTSW	11	9,242,886 (GRCm39)	missense	possibly damaging	0.76
R0103:Abca13	UTSW	11	9,223,951 (GRCm39)	missense	probably damaging	1.00
R0103:Abca13	UTSW	11	9,223,951 (GRCm39)	missense	probably damaging	1.00
R0113:Abca13	UTSW	11	9,242,114 (GRCm39)	missense	possibly damaging	0.54
R0119:Abca13	UTSW	11	9,248,076 (GRCm39)	missense	probably benign	0.03
R0152:Abca13	UTSW	11	9,531,724 (GRCm39)	missense	probably damaging	0.98
R0255:Abca13	UTSW	11	9,531,545 (GRCm39)	missense	probably damaging	1.00
R0277:Abca13	UTSW	11	9,244,701 (GRCm39)	missense	probably benign	0.25
R0278:Abca13	UTSW	11	9,328,215 (GRCm39)	missense	probably damaging	1.00
R0294:Abca13	UTSW	11	9,219,122 (GRCm39)	splice site	probably null
R0299:Abca13	UTSW	11	9,248,076 (GRCm39)	missense	probably benign	0.03
R0310:Abca13	UTSW	11	9,243,810 (GRCm39)	missense	probably benign	0.36
R0317:Abca13	UTSW	11	9,243,459 (GRCm39)	missense	probably damaging	1.00
R0323:Abca13	UTSW	11	9,244,701 (GRCm39)	missense	probably benign	0.25
R0329:Abca13	UTSW	11	9,349,430 (GRCm39)	missense	probably damaging	0.97
R0336:Abca13	UTSW	11	9,248,481 (GRCm39)	missense	probably benign	0.04
R0346:Abca13	UTSW	11	9,516,278 (GRCm39)	missense	probably damaging	0.99
R0380:Abca13	UTSW	11	9,538,500 (GRCm39)	splice site	probably null
R0382:Abca13	UTSW	11	9,586,650 (GRCm39)	splice site	probably benign
R0482:Abca13	UTSW	11	9,278,207 (GRCm39)	missense	possibly damaging	0.88
R0487:Abca13	UTSW	11	9,281,687 (GRCm39)	missense	probably benign	0.07
R0491:Abca13	UTSW	11	9,248,235 (GRCm39)	missense	probably benign	0.02
R0496:Abca13	UTSW	11	9,241,701 (GRCm39)	missense	probably benign	0.01
R0505:Abca13	UTSW	11	9,241,058 (GRCm39)	missense	probably benign	0.00
R0511:Abca13	UTSW	11	9,244,559 (GRCm39)	missense	probably benign
R0525:Abca13	UTSW	11	9,243,371 (GRCm39)	missense	probably damaging	1.00
R0538:Abca13	UTSW	11	9,217,622 (GRCm39)	critical splice donor site	probably null
R0615:Abca13	UTSW	11	9,206,197 (GRCm39)	missense	probably damaging	0.96
R0634:Abca13	UTSW	11	9,264,491 (GRCm39)	missense	possibly damaging	0.59
R0699:Abca13	UTSW	11	9,538,508 (GRCm39)	splice site	probably benign
R0848:Abca13	UTSW	11	9,632,011 (GRCm39)	nonsense	probably null
R0883:Abca13	UTSW	11	9,241,238 (GRCm39)	nonsense	probably null
R0892:Abca13	UTSW	11	9,248,305 (GRCm39)	missense	probably benign	0.00
R0904:Abca13	UTSW	11	9,248,740 (GRCm39)	missense	probably benign	0.22
R0968:Abca13	UTSW	11	9,248,016 (GRCm39)	missense	probably benign	0.00
R1187:Abca13	UTSW	11	9,478,981 (GRCm39)	missense	probably benign	0.00
R1299:Abca13	UTSW	11	9,244,821 (GRCm39)	missense	possibly damaging	0.94
R1323:Abca13	UTSW	11	9,240,937 (GRCm39)	missense	possibly damaging	0.86
R1323:Abca13	UTSW	11	9,240,937 (GRCm39)	missense	possibly damaging	0.86
R1368:Abca13	UTSW	11	9,241,836 (GRCm39)	missense	probably benign
R1387:Abca13	UTSW	11	9,632,085 (GRCm39)	nonsense	probably null
R1436:Abca13	UTSW	11	9,242,646 (GRCm39)	missense	probably damaging	0.99
R1449:Abca13	UTSW	11	9,248,580 (GRCm39)	missense	probably damaging	1.00
R1450:Abca13	UTSW	11	9,380,531 (GRCm39)	splice site	probably benign
R1462:Abca13	UTSW	11	9,433,924 (GRCm39)	splice site	probably benign
R1465:Abca13	UTSW	11	9,349,303 (GRCm39)	missense	probably damaging	1.00
R1465:Abca13	UTSW	11	9,349,303 (GRCm39)	missense	probably damaging	1.00
R1466:Abca13	UTSW	11	9,520,536 (GRCm39)	splice site	probably benign
R1494:Abca13	UTSW	11	9,416,429 (GRCm39)	nonsense	probably null
R1559:Abca13	UTSW	11	9,349,180 (GRCm39)	missense	probably null	1.00
R1564:Abca13	UTSW	11	9,384,316 (GRCm39)	nonsense	probably null
R1698:Abca13	UTSW	11	9,264,507 (GRCm39)	missense	probably benign	0.13
R1728:Abca13	UTSW	11	9,199,680 (GRCm39)	missense	probably benign	0.02
R1734:Abca13	UTSW	11	9,535,460 (GRCm39)	missense	probably benign	0.03
R1781:Abca13	UTSW	11	9,219,194 (GRCm39)	missense	probably damaging	1.00
R1782:Abca13	UTSW	11	9,247,971 (GRCm39)	missense	probably benign	0.36
R1807:Abca13	UTSW	11	9,241,755 (GRCm39)	missense	probably damaging	0.98
R1830:Abca13	UTSW	11	9,240,350 (GRCm39)	missense	probably benign	0.04
R1869:Abca13	UTSW	11	9,242,134 (GRCm39)	missense	probably benign	0.19
R1870:Abca13	UTSW	11	9,242,134 (GRCm39)	missense	probably benign	0.19
R1871:Abca13	UTSW	11	9,242,134 (GRCm39)	missense	probably benign	0.19
R1903:Abca13	UTSW	11	9,416,411 (GRCm39)	missense	probably benign	0.13
R1916:Abca13	UTSW	11	9,484,456 (GRCm39)	missense	probably damaging	1.00
R1936:Abca13	UTSW	11	9,243,595 (GRCm39)	missense	probably benign	0.13
R1976:Abca13	UTSW	11	9,347,815 (GRCm39)	missense	probably damaging	1.00
R2001:Abca13	UTSW	11	9,223,967 (GRCm39)	missense	probably benign	0.01
R2007:Abca13	UTSW	11	9,141,987 (GRCm39)	missense	probably benign	0.19
R2016:Abca13	UTSW	11	9,240,619 (GRCm39)	missense	probably damaging	1.00
R2017:Abca13	UTSW	11	9,240,619 (GRCm39)	missense	probably damaging	1.00
R2034:Abca13	UTSW	11	9,242,628 (GRCm39)	missense	possibly damaging	0.83
R2051:Abca13	UTSW	11	9,278,098 (GRCm39)	missense	probably benign	0.04
R2075:Abca13	UTSW	11	9,472,382 (GRCm39)	missense	probably damaging	1.00
R2118:Abca13	UTSW	11	9,259,013 (GRCm39)	splice site	probably benign
R2120:Abca13	UTSW	11	9,259,013 (GRCm39)	splice site	probably benign
R2124:Abca13	UTSW	11	9,259,013 (GRCm39)	splice site	probably benign
R2148:Abca13	UTSW	11	9,565,764 (GRCm39)	missense	probably damaging	1.00
R2149:Abca13	UTSW	11	9,217,508 (GRCm39)	missense	possibly damaging	0.68
R2157:Abca13	UTSW	11	9,527,170 (GRCm39)	missense	probably damaging	0.97
R2167:Abca13	UTSW	11	9,238,532 (GRCm39)	missense	probably benign	0.19
R2261:Abca13	UTSW	11	9,242,288 (GRCm39)	missense	probably benign
R2263:Abca13	UTSW	11	9,224,702 (GRCm39)	missense	probably benign	0.04
R2281:Abca13	UTSW	11	9,278,136 (GRCm39)	missense	probably damaging	0.98
R2340:Abca13	UTSW	11	9,349,165 (GRCm39)	missense	probably damaging	0.99
R2357:Abca13	UTSW	11	9,247,336 (GRCm39)	missense	probably damaging	1.00
R2370:Abca13	UTSW	11	9,206,185 (GRCm39)	missense	possibly damaging	0.85
R2384:Abca13	UTSW	11	9,217,450 (GRCm39)	splice site	probably benign
R2393:Abca13	UTSW	11	9,225,057 (GRCm39)	nonsense	probably null
R2432:Abca13	UTSW	11	9,401,333 (GRCm39)	splice site	probably benign
R2446:Abca13	UTSW	11	9,225,101 (GRCm39)	missense	probably benign
R2568:Abca13	UTSW	11	9,283,310 (GRCm39)	missense	probably benign	0.40
R2847:Abca13	UTSW	11	9,244,584 (GRCm39)	missense	possibly damaging	0.59
R2860:Abca13	UTSW	11	9,259,057 (GRCm39)	missense	probably damaging	0.99
R2861:Abca13	UTSW	11	9,259,057 (GRCm39)	missense	probably damaging	0.99
R2862:Abca13	UTSW	11	9,259,057 (GRCm39)	missense	probably damaging	0.99
R2877:Abca13	UTSW	11	9,241,889 (GRCm39)	missense	possibly damaging	0.91
R2878:Abca13	UTSW	11	9,241,889 (GRCm39)	missense	possibly damaging	0.91
R3748:Abca13	UTSW	11	9,266,119 (GRCm39)	splice site	probably benign
R3789:Abca13	UTSW	11	9,460,668 (GRCm39)	missense	probably damaging	0.97
R3933:Abca13	UTSW	11	9,304,856 (GRCm39)	missense	probably damaging	1.00
R3981:Abca13	UTSW	11	9,482,407 (GRCm39)	missense	probably benign
R4002:Abca13	UTSW	11	9,535,415 (GRCm39)	missense	probably benign	0.00
R4010:Abca13	UTSW	11	9,572,013 (GRCm39)	splice site	probably benign
R4011:Abca13	UTSW	11	9,572,013 (GRCm39)	splice site	probably benign
R4127:Abca13	UTSW	11	9,141,973 (GRCm39)	missense	probably benign	0.00
R4214:Abca13	UTSW	11	9,243,877 (GRCm39)	missense	probably damaging	0.96
R4236:Abca13	UTSW	11	9,206,205 (GRCm39)	missense	probably damaging	1.00
R4237:Abca13	UTSW	11	9,384,188 (GRCm39)	missense	probably benign	0.01
R4359:Abca13	UTSW	11	9,247,629 (GRCm39)	missense	probably benign	0.02
R4378:Abca13	UTSW	11	9,243,644 (GRCm39)	missense	probably benign	0.00
R4389:Abca13	UTSW	11	9,247,878 (GRCm39)	missense	probably damaging	0.98
R4392:Abca13	UTSW	11	9,259,034 (GRCm39)	missense	possibly damaging	0.94
R4623:Abca13	UTSW	11	9,259,130 (GRCm39)	missense	probably damaging	1.00
R4684:Abca13	UTSW	11	9,384,193 (GRCm39)	nonsense	probably null
R4691:Abca13	UTSW	11	9,384,195 (GRCm39)	missense	probably damaging	1.00
R4700:Abca13	UTSW	11	9,242,306 (GRCm39)	missense	possibly damaging	0.59
R4701:Abca13	UTSW	11	9,242,306 (GRCm39)	missense	possibly damaging	0.59
R4704:Abca13	UTSW	11	9,226,990 (GRCm39)	missense	possibly damaging	0.94
R4751:Abca13	UTSW	11	9,227,973 (GRCm39)	critical splice donor site	probably null
R4772:Abca13	UTSW	11	9,265,339 (GRCm39)	splice site	probably null
R4782:Abca13	UTSW	11	9,278,096 (GRCm39)	missense	probably damaging	0.96
R4801:Abca13	UTSW	11	9,472,341 (GRCm39)	missense	possibly damaging	0.94
R4802:Abca13	UTSW	11	9,472,341 (GRCm39)	missense	possibly damaging	0.94
R4819:Abca13	UTSW	11	9,240,421 (GRCm39)	missense	possibly damaging	0.88
R4831:Abca13	UTSW	11	9,492,077 (GRCm39)	nonsense	probably null
R4851:Abca13	UTSW	11	9,433,890 (GRCm39)	missense	probably benign	0.02
R4857:Abca13	UTSW	11	9,244,143 (GRCm39)	missense	probably benign	0.22
R4869:Abca13	UTSW	11	9,265,434 (GRCm39)	splice site	probably null
R4982:Abca13	UTSW	11	9,242,348 (GRCm39)	missense	possibly damaging	0.58
R5031:Abca13	UTSW	11	9,247,678 (GRCm39)	missense	probably damaging	0.99
R5044:Abca13	UTSW	11	9,323,323 (GRCm39)	missense	possibly damaging	0.80
R5092:Abca13	UTSW	11	9,208,535 (GRCm39)	missense	probably damaging	1.00
R5155:Abca13	UTSW	11	9,482,447 (GRCm39)	missense	probably damaging	0.98
R5173:Abca13	UTSW	11	9,632,032 (GRCm39)	frame shift	probably null
R5180:Abca13	UTSW	11	9,416,510 (GRCm39)	missense	probably benign	0.01
R5244:Abca13	UTSW	11	9,225,081 (GRCm39)	missense	probably benign	0.28
R5257:Abca13	UTSW	11	9,199,684 (GRCm39)	missense	possibly damaging	0.94
R5258:Abca13	UTSW	11	9,199,684 (GRCm39)	missense	possibly damaging	0.94
R5299:Abca13	UTSW	11	9,381,861 (GRCm39)	missense	probably damaging	1.00
R5363:Abca13	UTSW	11	9,227,035 (GRCm39)	missense	possibly damaging	0.75
R5365:Abca13	UTSW	11	9,578,629 (GRCm39)	missense	probably damaging	1.00
R5419:Abca13	UTSW	11	9,143,533 (GRCm39)	critical splice donor site	probably null
R5426:Abca13	UTSW	11	9,240,722 (GRCm39)	missense	probably damaging	1.00
R5468:Abca13	UTSW	11	9,244,062 (GRCm39)	missense	probably damaging	1.00
R5477:Abca13	UTSW	11	9,251,298 (GRCm39)	missense	possibly damaging	0.49
R5541:Abca13	UTSW	11	9,241,545 (GRCm39)	missense	probably benign	0.00
R5553:Abca13	UTSW	11	9,278,158 (GRCm39)	missense	probably damaging	1.00
R5556:Abca13	UTSW	11	9,208,546 (GRCm39)	missense	possibly damaging	0.91
R5566:Abca13	UTSW	11	9,244,615 (GRCm39)	nonsense	probably null
R5582:Abca13	UTSW	11	9,586,639 (GRCm39)	splice site	probably null
R5604:Abca13	UTSW	11	9,516,279 (GRCm39)	missense	probably damaging	0.97
R5609:Abca13	UTSW	11	9,353,874 (GRCm39)	missense	probably benign	0.01
R5617:Abca13	UTSW	11	9,227,891 (GRCm39)	missense	probably benign	0.00
R5693:Abca13	UTSW	11	9,266,233 (GRCm39)	missense	probably benign	0.29
R5707:Abca13	UTSW	11	9,460,620 (GRCm39)	missense	probably damaging	1.00
R5725:Abca13	UTSW	11	9,527,181 (GRCm39)	missense	probably benign	0.00
R5728:Abca13	UTSW	11	9,520,576 (GRCm39)	missense	probably damaging	1.00
R5738:Abca13	UTSW	11	9,571,917 (GRCm39)	missense	probably damaging	1.00
R5758:Abca13	UTSW	11	9,264,536 (GRCm39)	missense	probably damaging	0.97
R5762:Abca13	UTSW	11	9,531,665 (GRCm39)	missense	probably damaging	1.00
R5771:Abca13	UTSW	11	9,241,411 (GRCm39)	missense	probably damaging	1.00
R5809:Abca13	UTSW	11	9,243,692 (GRCm39)	missense	probably damaging	1.00
R5826:Abca13	UTSW	11	9,632,056 (GRCm39)	missense	probably damaging	0.99
R5831:Abca13	UTSW	11	9,517,777 (GRCm39)	nonsense	probably null
R5834:Abca13	UTSW	11	9,227,974 (GRCm39)	critical splice donor site	probably null
R5902:Abca13	UTSW	11	9,247,177 (GRCm39)	missense	probably damaging	1.00
R5933:Abca13	UTSW	11	9,199,658 (GRCm39)	missense	possibly damaging	0.63
R5945:Abca13	UTSW	11	9,243,398 (GRCm39)	missense	probably benign	0.04
R5969:Abca13	UTSW	11	9,242,214 (GRCm39)	nonsense	probably null
R5985:Abca13	UTSW	11	9,241,628 (GRCm39)	missense	probably benign	0.02
R5998:Abca13	UTSW	11	9,517,708 (GRCm39)	missense	probably damaging	0.97
R6021:Abca13	UTSW	11	9,240,465 (GRCm39)	nonsense	probably null
R6022:Abca13	UTSW	11	9,240,759 (GRCm39)	missense	probably damaging	1.00
R6032:Abca13	UTSW	11	9,247,752 (GRCm39)	missense	possibly damaging	0.52
R6032:Abca13	UTSW	11	9,247,752 (GRCm39)	missense	possibly damaging	0.52
R6105:Abca13	UTSW	11	9,347,812 (GRCm39)	missense	probably damaging	1.00
R6153:Abca13	UTSW	11	9,251,259 (GRCm39)	critical splice acceptor site	probably null
R6162:Abca13	UTSW	11	9,259,047 (GRCm39)	missense	probably damaging	1.00
R6187:Abca13	UTSW	11	9,259,085 (GRCm39)	missense	probably damaging	1.00
R6247:Abca13	UTSW	11	9,353,874 (GRCm39)	missense	probably benign	0.01
R6329:Abca13	UTSW	11	9,227,937 (GRCm39)	missense	probably damaging	1.00
R6352:Abca13	UTSW	11	9,259,139 (GRCm39)	splice site	probably null
R6367:Abca13	UTSW	11	9,166,248 (GRCm39)	missense	possibly damaging	0.85
R6423:Abca13	UTSW	11	9,248,778 (GRCm39)	missense	probably benign	0.01
R6424:Abca13	UTSW	11	9,460,542 (GRCm39)	missense	probably benign
R6456:Abca13	UTSW	11	9,240,474 (GRCm39)	missense	possibly damaging	0.94
R6490:Abca13	UTSW	11	9,248,661 (GRCm39)	missense	probably benign	0.00
R6547:Abca13	UTSW	11	9,224,757 (GRCm39)	missense	probably benign	0.04
R6594:Abca13	UTSW	11	9,244,632 (GRCm39)	missense	possibly damaging	0.52
R6604:Abca13	UTSW	11	9,328,384 (GRCm39)	missense	probably damaging	1.00
R6614:Abca13	UTSW	11	9,244,371 (GRCm39)	missense	probably benign	0.04
R6736:Abca13	UTSW	11	9,415,058 (GRCm39)	missense	probably damaging	1.00
R6742:Abca13	UTSW	11	9,278,168 (GRCm39)	missense	probably damaging	1.00
R6791:Abca13	UTSW	11	9,328,504 (GRCm39)	missense	probably damaging	1.00
R6834:Abca13	UTSW	11	9,225,110 (GRCm39)	missense	possibly damaging	0.48
R6936:Abca13	UTSW	11	9,248,568 (GRCm39)	missense	probably damaging	0.96
R6955:Abca13	UTSW	11	9,244,307 (GRCm39)	missense	probably benign	0.28
R7031:Abca13	UTSW	11	9,571,892 (GRCm39)	missense	probably damaging	1.00
R7065:Abca13	UTSW	11	9,242,595 (GRCm39)	missense	probably benign	0.02
R7067:Abca13	UTSW	11	9,241,845 (GRCm39)	missense	probably benign	0.14
R7070:Abca13	UTSW	11	9,240,701 (GRCm39)	missense	probably benign	0.06
R7094:Abca13	UTSW	11	9,248,610 (GRCm39)	missense	probably damaging	0.96
R7102:Abca13	UTSW	11	9,285,215 (GRCm39)	missense	probably damaging	1.00
R7105:Abca13	UTSW	11	9,347,842 (GRCm39)	missense	probably damaging	1.00
R7131:Abca13	UTSW	11	9,241,893 (GRCm39)	missense	probably benign	0.37
R7155:Abca13	UTSW	11	9,479,010 (GRCm39)	missense	probably benign
R7158:Abca13	UTSW	11	9,223,982 (GRCm39)	missense	probably benign
R7212:Abca13	UTSW	11	9,248,854 (GRCm39)	missense	probably benign	0.04
R7215:Abca13	UTSW	11	9,238,405 (GRCm39)	splice site	probably null
R7228:Abca13	UTSW	11	9,247,653 (GRCm39)	missense	probably benign
R7231:Abca13	UTSW	11	9,244,175 (GRCm39)	missense	probably benign	0.25
R7247:Abca13	UTSW	11	9,240,732 (GRCm39)	missense	probably benign	0.00
R7278:Abca13	UTSW	11	9,241,126 (GRCm39)	missense	possibly damaging	0.56
R7299:Abca13	UTSW	11	9,244,649 (GRCm39)	missense	probably damaging	0.98
R7304:Abca13	UTSW	11	9,247,203 (GRCm39)	missense	probably benign
R7328:Abca13	UTSW	11	9,241,545 (GRCm39)	missense	probably benign	0.14
R7374:Abca13	UTSW	11	9,242,136 (GRCm39)	missense	possibly damaging	0.46
R7376:Abca13	UTSW	11	9,241,118 (GRCm39)	missense	probably benign	0.00
R7384:Abca13	UTSW	11	9,283,257 (GRCm39)	missense	probably damaging	1.00
R7395:Abca13	UTSW	11	9,241,658 (GRCm39)	missense	probably benign	0.01
R7419:Abca13	UTSW	11	9,247,833 (GRCm39)	missense	probably damaging	1.00
R7419:Abca13	UTSW	11	9,226,959 (GRCm39)	missense	probably damaging	1.00
R7421:Abca13	UTSW	11	9,460,463 (GRCm39)	missense	probably benign
R7458:Abca13	UTSW	11	9,240,777 (GRCm39)	missense	possibly damaging	0.94
R7474:Abca13	UTSW	11	9,278,088 (GRCm39)	nonsense	probably null
R7492:Abca13	UTSW	11	9,243,167 (GRCm39)	missense	probably benign	0.08
R7660:Abca13	UTSW	11	9,240,678 (GRCm39)	missense	probably benign	0.00
R7677:Abca13	UTSW	11	9,248,349 (GRCm39)	nonsense	probably null
R7744:Abca13	UTSW	11	9,240,421 (GRCm39)	missense	possibly damaging	0.88
R7790:Abca13	UTSW	11	9,247,915 (GRCm39)	missense	probably damaging	1.00
R7798:Abca13	UTSW	11	9,241,664 (GRCm39)	missense	probably benign	0.04
R7811:Abca13	UTSW	11	9,527,141 (GRCm39)	splice site	probably null
R7831:Abca13	UTSW	11	9,247,404 (GRCm39)	missense	possibly damaging	0.46
R7867:Abca13	UTSW	11	9,212,139 (GRCm39)	critical splice donor site	probably null
R7910:Abca13	UTSW	11	9,531,590 (GRCm39)	missense	probably damaging	1.00
R7964:Abca13	UTSW	11	9,266,146 (GRCm39)	missense	probably benign	0.06
R8037:Abca13	UTSW	11	9,243,904 (GRCm39)	missense	probably damaging	1.00
R8049:Abca13	UTSW	11	9,241,867 (GRCm39)	missense	probably damaging	0.99
R8059:Abca13	UTSW	11	9,323,279 (GRCm39)	missense	probably benign	0.00
R8072:Abca13	UTSW	11	9,244,574 (GRCm39)	missense	probably benign	0.10
R8078:Abca13	UTSW	11	9,251,279 (GRCm39)	missense	probably benign	0.32
R8112:Abca13	UTSW	11	9,264,624 (GRCm39)	missense	probably benign	0.01
R8146:Abca13	UTSW	11	9,347,829 (GRCm39)	missense	probably damaging	1.00
R8164:Abca13	UTSW	11	9,565,799 (GRCm39)	missense	probably damaging	1.00
R8195:Abca13	UTSW	11	9,224,735 (GRCm39)	missense	probably benign	0.00
R8220:Abca13	UTSW	11	9,384,299 (GRCm39)	missense	possibly damaging	0.58
R8235:Abca13	UTSW	11	9,212,077 (GRCm39)	missense	probably damaging	0.99
R8307:Abca13	UTSW	11	9,227,922 (GRCm39)	nonsense	probably null
R8310:Abca13	UTSW	11	9,328,269 (GRCm39)	missense	possibly damaging	0.90
R8315:Abca13	UTSW	11	9,535,502 (GRCm39)	missense	probably benign	0.44
R8315:Abca13	UTSW	11	9,328,460 (GRCm39)	missense	probably null	1.00
R8324:Abca13	UTSW	11	9,240,395 (GRCm39)	missense	probably damaging	1.00
R8375:Abca13	UTSW	11	9,347,841 (GRCm39)	missense	probably damaging	1.00
R8375:Abca13	UTSW	11	9,265,416 (GRCm39)	missense	probably benign	0.00
R8400:Abca13	UTSW	11	9,248,218 (GRCm39)	missense	probably damaging	0.97
R8400:Abca13	UTSW	11	9,243,925 (GRCm39)	missense	probably benign	0.00
R8425:Abca13	UTSW	11	9,264,623 (GRCm39)	missense	possibly damaging	0.92
R8486:Abca13	UTSW	11	9,225,092 (GRCm39)	missense	probably benign	0.00
R8493:Abca13	UTSW	11	9,460,668 (GRCm39)	missense	probably damaging	0.97
R8502:Abca13	UTSW	11	9,219,282 (GRCm39)	missense	probably benign	0.02
R8716:Abca13	UTSW	11	9,243,774 (GRCm39)	missense	probably benign	0.09
R8787:Abca13	UTSW	11	9,225,053 (GRCm39)	missense	possibly damaging	0.92
R8829:Abca13	UTSW	11	9,571,881 (GRCm39)	missense	probably damaging	1.00
R8859:Abca13	UTSW	11	9,328,397 (GRCm39)	missense
R8871:Abca13	UTSW	11	9,248,071 (GRCm39)	missense	probably benign	0.07
R8883:Abca13	UTSW	11	9,283,168 (GRCm39)	missense	probably benign	0.00
R8919:Abca13	UTSW	11	9,241,653 (GRCm39)	missense	possibly damaging	0.84
R8966:Abca13	UTSW	11	9,578,588 (GRCm39)	missense	probably damaging	1.00
R8967:Abca13	UTSW	11	9,242,696 (GRCm39)	missense	probably benign	0.18
R8969:Abca13	UTSW	11	9,227,944 (GRCm39)	missense	probably benign
R8972:Abca13	UTSW	11	9,278,138 (GRCm39)	missense	probably damaging	1.00
R9002:Abca13	UTSW	11	9,241,926 (GRCm39)	missense	possibly damaging	0.94
R9046:Abca13	UTSW	11	9,243,525 (GRCm39)	missense	probably benign	0.04
R9051:Abca13	UTSW	11	9,285,232 (GRCm39)	missense	probably damaging	1.00
R9056:Abca13	UTSW	11	9,414,921 (GRCm39)	missense	probably damaging	1.00
R9061:Abca13	UTSW	11	9,227,847 (GRCm39)	missense	probably benign	0.02
R9072:Abca13	UTSW	11	9,240,834 (GRCm39)	missense	possibly damaging	0.93
R9090:Abca13	UTSW	11	9,241,698 (GRCm39)	missense	probably damaging	0.98
R9127:Abca13	UTSW	11	9,242,080 (GRCm39)	missense	probably benign	0.03
R9164:Abca13	UTSW	11	9,278,157 (GRCm39)	missense	probably damaging	1.00
R9175:Abca13	UTSW	11	9,531,593 (GRCm39)	missense	probably damaging	0.98
R9190:Abca13	UTSW	11	9,241,886 (GRCm39)	missense	probably damaging	0.96
R9244:Abca13	UTSW	11	9,241,577 (GRCm39)	missense	probably benign	0.01
R9255:Abca13	UTSW	11	9,278,213 (GRCm39)	missense	probably damaging	1.00
R9271:Abca13	UTSW	11	9,241,698 (GRCm39)	missense	probably damaging	0.98
R9321:Abca13	UTSW	11	9,460,475 (GRCm39)	missense	probably benign	0.00
R9356:Abca13	UTSW	11	9,206,305 (GRCm39)	missense	probably benign	0.11
R9369:Abca13	UTSW	11	9,328,444 (GRCm39)	missense	probably damaging	1.00
R9423:Abca13	UTSW	11	9,240,395 (GRCm39)	missense	probably damaging	1.00
R9432:Abca13	UTSW	11	9,244,559 (GRCm39)	missense	probably benign	0.00
R9455:Abca13	UTSW	11	9,353,897 (GRCm39)	missense	probably damaging	1.00
R9486:Abca13	UTSW	11	9,240,621 (GRCm39)	missense	possibly damaging	0.88
R9492:Abca13	UTSW	11	9,243,667 (GRCm39)	nonsense	probably null
R9511:Abca13	UTSW	11	9,278,130 (GRCm39)	missense	probably benign	0.16
R9545:Abca13	UTSW	11	9,416,538 (GRCm39)	missense	probably damaging	1.00
R9566:Abca13	UTSW	11	9,414,927 (GRCm39)	missense	probably damaging	1.00
R9609:Abca13	UTSW	11	9,208,549 (GRCm39)	missense	probably damaging	1.00
R9616:Abca13	UTSW	11	9,240,501 (GRCm39)	missense	probably benign	0.00
R9651:Abca13	UTSW	11	9,535,484 (GRCm39)	missense	probably benign
R9651:Abca13	UTSW	11	9,243,741 (GRCm39)	missense	probably benign	0.31
R9653:Abca13	UTSW	11	9,243,741 (GRCm39)	missense	probably benign	0.31
R9657:Abca13	UTSW	11	9,243,379 (GRCm39)	missense	probably benign	0.35
R9684:Abca13	UTSW	11	9,283,307 (GRCm39)	missense	probably damaging	1.00
X0013:Abca13	UTSW	11	9,223,899 (GRCm39)	missense	probably benign	0.02
X0057:Abca13	UTSW	11	9,244,744 (GRCm39)	missense	probably damaging	0.96
X0066:Abca13	UTSW	11	9,217,565 (GRCm39)	missense	probably damaging	0.96
Z1088:Abca13	UTSW	11	9,244,687 (GRCm39)	missense	probably damaging	0.99
Z1176:Abca13	UTSW	11	9,217,461 (GRCm39)	missense	probably damaging	1.00
Z1176:Abca13	UTSW	11	9,201,376 (GRCm39)	missense	possibly damaging	0.88
Z1176:Abca13	UTSW	11	9,285,182 (GRCm39)	missense	probably damaging	1.00
Z1176:Abca13	UTSW	11	9,285,181 (GRCm39)	missense	probably damaging	1.00
Z1176:Abca13	UTSW	11	9,244,342 (GRCm39)	missense	probably benign	0.01
Z1177:Abca13	UTSW	11	9,264,545 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TCAGCATAGCACAGTTGCTAAGCTAAG -3'
(R):5'- AGGTGTGACTCCAATCATTCCAAAGG -3'

Sequencing Primer
(F):5'- TGCTAAGCTAAGTGACTTGTTTTC -3'
(R):5'- CACATGATGTGGAACACTTTGTAGC -3'

Protein Function and Prediction

Abca13 encodes ABCA13, a member of the ATP-binding cassette (ABC) transporter superfamily. The members of the ABCA subfamily share a high degree of sequence conservation and function in lipid trafficking in several body locations. ABCA13 has two transmembrane domains, each with six membrane-spanning segments, and two nucleotide-binding domains located in the cytoplasm. Due to ubiquitous expression of Abca13 in blood-derived cells, a role associated with hematopoiesis has been suggested for ABCA13. However, the exact function and substrates for ABCA13 remain to be deterimined.

ABCA13 is expressed at high levels in the trachea, testis, and bone marrow. In the mouse, PCR analysis detected Abca13 is expressed in the kidney and skeletal muscle.

ABCA13 was identified as a susceptibility factor for schizophrenia, bipolar disorder, and major depression. In humans, ABCA13 maps to chromosome 7p12.3, a region linked to Schwachman-Diamond syndrome, a genetic disorder affecting the pancreas, and a locus involved in T-cell tumor invasion and cancer metastasis. High levels of ABCA13 are found in leukemia, prostate tumor, and CNS tumor cell lines.

Posted On

2013-04-16