Mutagenetix > Incidental Mutation

Incidental Mutation 'R4704:Abca13'

356304

Institutional Source

Beutler Lab

Gene Symbol

Abca13

Ensembl Gene

ENSMUSG00000004668

Gene Name

ATP-binding cassette, sub-family A member 13

Synonyms

A930002G16Rik

MMRRC Submission

041952-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4704 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

9141942-9634259 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 9226990 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 582 (D582G)

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: D582G

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000040465
Gene: ENSMUSG00000004668
AA Change: D582G

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 94.0%

Validation Efficiency

97% (89/92)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	A	T	7: 130,959,259 (GRCm39)	M147K	probably damaging	Het
Abca2	T	C	2: 25,333,424 (GRCm39)	L1683P	probably damaging	Het
Adam39	A	G	8: 41,278,833 (GRCm39)	H408R	probably benign	Het
Adcy4	A	G	14: 56,012,482 (GRCm39)	S554P	possibly damaging	Het
Ahnak	T	C	19: 8,990,545 (GRCm39)	I3943T	probably damaging	Het
Ahnak	T	G	19: 8,989,622 (GRCm39)		probably benign	Het
Alkal2	T	A	12: 30,937,195 (GRCm39)	S109R	probably damaging	Het
Apobec4	A	G	1: 152,632,001 (GRCm39)	T10A	probably benign	Het
Arhgef40	A	G	14: 52,239,767 (GRCm39)	N1327S	probably damaging	Het
Arpc3	A	G	5: 122,538,471 (GRCm39)	M1V	probably null	Het
Ascc1	A	G	10: 59,885,624 (GRCm39)	Y225C	probably damaging	Het
Ascc3	A	G	10: 50,535,110 (GRCm39)	I668V	probably benign	Het
Bdnf	T	A	2: 109,554,037 (GRCm39)	M137K	possibly damaging	Het
Cacna1b	T	C	2: 24,544,475 (GRCm39)	D1231G	probably damaging	Het
Cds2	T	A	2: 132,142,522 (GRCm39)	Y239*	probably null	Het
Cpped1	G	A	16: 11,703,493 (GRCm39)		probably benign	Het
Ctu2	G	A	8: 123,206,042 (GRCm39)	R261Q	probably damaging	Het
Cux1	A	G	5: 136,278,055 (GRCm39)	V645A	probably benign	Het
Cyp4f13	A	G	17: 33,144,709 (GRCm39)	C401R	probably damaging	Het
Dpt	T	G	1: 164,646,518 (GRCm39)	Y162*	probably null	Het
Ednra	A	G	8: 78,394,592 (GRCm39)		probably benign	Het
Eepd1	A	G	9: 25,394,122 (GRCm39)	T129A	probably benign	Het
Eif2s1	A	G	12: 78,923,944 (GRCm39)	T134A	probably benign	Het
Eloa	A	G	4: 135,738,525 (GRCm39)	V145A	probably benign	Het
Enam	T	A	5: 88,651,650 (GRCm39)	L1053*	probably null	Het
Eng	T	C	2: 32,568,924 (GRCm39)	S484P	probably benign	Het
Eogt	A	T	6: 97,090,813 (GRCm39)	V442E	probably damaging	Het
Fam185a	C	T	5: 21,685,471 (GRCm39)		probably benign	Het
Gm4922	C	T	10: 18,660,567 (GRCm39)	V52I	probably benign	Het
Gnao1	A	G	8: 94,538,004 (GRCm39)	E14G	probably benign	Het
Gpr75	C	A	11: 30,841,110 (GRCm39)	A5D	probably benign	Het
Hbq1b	T	A	11: 32,237,448 (GRCm39)		probably benign	Het
Hdac7	G	A	15: 97,694,097 (GRCm39)	T724M	probably damaging	Het
Ifi204	C	A	1: 173,587,927 (GRCm39)		probably benign	Het
Ift88	A	G	14: 57,718,307 (GRCm39)		probably benign	Het
Irak4	A	G	15: 94,464,781 (GRCm39)		probably null	Het
Kalrn	T	C	16: 34,024,327 (GRCm39)	D610G	probably damaging	Het
Kifc2	T	C	15: 76,547,177 (GRCm39)		probably null	Het
Kmt2c	G	A	5: 25,519,025 (GRCm39)	Q2362*	probably null	Het
Kntc1	G	A	5: 123,949,496 (GRCm39)	E1956K	probably damaging	Het
Lama3	T	C	18: 12,686,280 (GRCm39)	V2781A	probably benign	Het
Lipt2	A	G	7: 99,809,534 (GRCm39)	E207G	probably damaging	Het
Mag	A	T	7: 30,608,598 (GRCm39)	L172Q	probably damaging	Het
Map1b	A	T	13: 99,566,983 (GRCm39)	C1913S	unknown	Het
Mical3	A	G	6: 120,935,649 (GRCm39)	S1626P	probably benign	Het
Mslnl	G	T	17: 25,957,952 (GRCm39)	W65L	possibly damaging	Het
Muc20	G	T	16: 32,599,448 (GRCm39)	A3332S	possibly damaging	Het
Nadk	C	A	4: 155,669,684 (GRCm39)	P157T	probably benign	Het
Nkx2-3	G	A	19: 43,601,123 (GRCm39)	E62K	probably damaging	Het
Or6c2	T	C	10: 129,362,171 (GRCm39)	L25P	possibly damaging	Het
Pclo	A	G	5: 14,726,494 (GRCm39)		probably benign	Het
Pcna-ps2	T	A	19: 9,260,786 (GRCm39)	V15E	possibly damaging	Het
Plekhg3	G	T	12: 76,625,012 (GRCm39)	G1285W	probably damaging	Het
Pramel29	A	T	4: 143,935,162 (GRCm39)	I193N	probably damaging	Het
Procr	A	G	2: 155,596,258 (GRCm39)	S142G	probably damaging	Het
Ptpn3	A	T	4: 57,270,119 (GRCm39)	N14K	possibly damaging	Het
Rin1	C	A	19: 5,105,018 (GRCm39)	L693I	probably damaging	Het
Ripk4	C	A	16: 97,547,204 (GRCm39)	E290*	probably null	Het
Rnf213	A	G	11: 119,331,175 (GRCm39)	Y2128C	probably damaging	Het
Saal1	T	C	7: 46,349,164 (GRCm39)		probably benign	Het
Selplg	T	C	5: 113,957,094 (GRCm39)	D404G	probably benign	Het
Serpinf1	C	A	11: 75,301,867 (GRCm39)	A263S	probably damaging	Het
Sgo2b	A	T	8: 64,380,824 (GRCm39)	D669E	probably damaging	Het
Slc30a9	T	C	5: 67,499,616 (GRCm39)		probably benign	Het
Sri	A	T	5: 8,112,430 (GRCm39)		probably null	Het
Sspo	G	A	6: 48,475,638 (GRCm39)	C4918Y	probably damaging	Het
Szt2	A	G	4: 118,251,026 (GRCm39)	Y361H	probably damaging	Het
Tbc1d12	T	A	19: 38,889,781 (GRCm39)	W404R	probably damaging	Het
Tcf20	T	C	15: 82,735,928 (GRCm39)	E1841G	possibly damaging	Het
Tep1	T	C	14: 51,074,530 (GRCm39)	T1832A	probably benign	Het
Tmem132e	G	A	11: 82,334,357 (GRCm39)	A623T	probably damaging	Het
Tmem201	A	T	4: 149,811,774 (GRCm39)	F357Y	possibly damaging	Het
Trappc13	T	G	13: 104,303,329 (GRCm39)		probably benign	Het
Trav6-5	C	T	14: 53,728,883 (GRCm39)	Q47*	probably null	Het
Ubxn1	T	A	19: 8,849,399 (GRCm39)	D47E	probably benign	Het
Vmn2r45	G	T	7: 8,486,535 (GRCm39)	S251*	probably null	Het
Wnk1	A	G	6: 119,942,705 (GRCm39)	L774S	possibly damaging	Het
Zfp189	T	C	4: 49,530,081 (GRCm39)	S395P	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
R0324:Abca13	UTSW	11	9,247,669 (GRCm39)	missense	possibly damaging	0.76
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
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'- ACTGTCCAGAGTCCACATGG -3'
(R):5'- GCTGAGCCATCACCAAGTAG -3'

Sequencing Primer
(F):5'- GTCCACATGGAGACCCTGATAAATG -3'
(R):5'- GTAGCACCTGAAATCCTTCCAAAGTC -3'

Posted On

2015-10-21