Mutagenetix > Incidental Mutation

Incidental Mutation 'R6791:Abca13'

532599

Institutional Source

Beutler Lab

Gene Symbol

Abca13

Ensembl Gene

ENSMUSG00000004668

Gene Name

ATP-binding cassette, sub-family A member 13

Synonyms

A930002G16Rik

MMRRC Submission

044904-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6791 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

9141942-9634259 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 9328504 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 3526 (C3526S)

Ref Sequence

ENSEMBL: ENSMUSP00000040465 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000042740
AA Change: C3526S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000040465
Gene: ENSMUSG00000004668
AA Change: C3526S

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: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.7%

Validation Efficiency

100% (52/52)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf2	T	C	17: 43,021,774 (GRCm39)	N350S	probably benign	Het
Atp12a	G	A	14: 56,624,439 (GRCm39)		probably null	Het
AW551984	T	G	9: 39,511,955 (GRCm39)	S19R	probably damaging	Het
Bet1l	A	G	7: 140,434,418 (GRCm39)	I77T	possibly damaging	Het
Cfap206	T	C	4: 34,711,414 (GRCm39)	I494M	possibly damaging	Het
Cog3	A	G	14: 75,968,118 (GRCm39)	I415T	probably damaging	Het
Col15a1	C	T	4: 47,300,518 (GRCm39)	P1060S	probably damaging	Het
Ctrb1	A	G	8: 112,415,981 (GRCm39)	V71A	possibly damaging	Het
Ddhd2	T	C	8: 26,242,242 (GRCm39)	Y211C	probably benign	Het
Fbxl20	T	C	11: 98,000,336 (GRCm39)	T128A	probably benign	Het
Fdps	A	G	3: 89,002,659 (GRCm39)		probably null	Het
Gm4302	TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	10: 100,177,361 (GRCm39)		probably benign	Het
Gm8369	T	A	19: 11,489,200 (GRCm39)		probably benign	Het
Grm6	T	C	11: 50,750,601 (GRCm39)	V588A	possibly damaging	Het
Heatr6	T	C	11: 83,649,167 (GRCm39)	L174S	probably benign	Het
Kif1a	G	A	1: 92,993,859 (GRCm39)	P364S	probably damaging	Het
Klk7	A	G	7: 43,462,684 (GRCm39)	D163G	probably benign	Het
Kmt2e	TGCCGCCGCCGCCGCCACCGCCGCCGCCGC	TGCCGCCGCCGCCGCCGCCACCGCCGCCGCCGC	5: 23,704,474 (GRCm39)		probably benign	Het
Lamb3	T	C	1: 193,017,169 (GRCm39)	S787P	possibly damaging	Het
Lrp5	C	T	19: 3,650,753 (GRCm39)	C1227Y	probably damaging	Het
Mgst1	G	A	6: 138,118,805 (GRCm39)		probably benign	Het
Mllt6	T	C	11: 97,571,428 (GRCm39)	S1022P	probably damaging	Het
Mtmr2	T	C	9: 13,716,678 (GRCm39)	I521T	probably benign	Het
Naalad2	T	C	9: 18,296,426 (GRCm39)	T75A	possibly damaging	Het
Nadsyn1	A	T	7: 143,372,845 (GRCm39)	I83N	probably damaging	Het
Naip2	T	C	13: 100,291,468 (GRCm39)	S1157G	probably benign	Het
Neurl4	T	A	11: 69,799,336 (GRCm39)	L904Q	probably damaging	Het
Ngp	A	C	9: 110,249,017 (GRCm39)	I30L	probably benign	Het
Or5af1	T	C	11: 58,722,903 (GRCm39)	Y308H	probably benign	Het
Or6c5c	G	A	10: 129,299,023 (GRCm39)	M159I	probably benign	Het
Orm2	A	T	4: 63,282,196 (GRCm39)	M125L	probably benign	Het
Pax2	A	T	19: 44,777,260 (GRCm39)	D151V	possibly damaging	Het
Polg	A	G	7: 79,109,857 (GRCm39)	V382A	probably benign	Het
Ppargc1b	C	A	18: 61,440,747 (GRCm39)	G724W	probably damaging	Het
Pramel11	T	A	4: 143,622,252 (GRCm39)	I368F	probably benign	Het
Prss16	A	T	13: 22,190,237 (GRCm39)	V307E	probably damaging	Het
Prss54	T	G	8: 96,291,283 (GRCm39)		probably null	Het
Rspo1	A	G	4: 124,900,976 (GRCm39)	H108R	probably benign	Het
Sh3bp5l	C	A	11: 58,237,098 (GRCm39)	H352N	probably damaging	Het
Skor1	T	C	9: 63,047,636 (GRCm39)		probably null	Het
Smad6	A	G	9: 63,919,509 (GRCm39)	Y289H	probably benign	Het
Spart	G	A	3: 55,034,982 (GRCm39)	G456D	probably damaging	Het
Spg11	T	C	2: 121,923,924 (GRCm39)	E799G	probably damaging	Het
Tbc1d4	T	G	14: 101,845,695 (GRCm39)	K68Q	probably damaging	Het
Treml2	A	G	17: 48,616,247 (GRCm39)	M296V	probably benign	Het
Ugt2b1	C	A	5: 87,067,116 (GRCm39)	D436Y	probably damaging	Het
Usp9y	A	T	Y: 1,325,042 (GRCm39)		probably null	Homo
Vmn2r6	T	C	3: 64,445,580 (GRCm39)	Y626C	probably damaging	Het
Xpc	G	A	6: 91,483,839 (GRCm39)	A169V	probably benign	Het
Zfp131	A	G	13: 120,228,129 (GRCm39)	V506A	probably damaging	Het
Zfp74	A	G	7: 29,633,860 (GRCm39)	I616T	probably benign	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
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
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'- TTATACAGCATGAGGACAGACATG -3'
(R):5'- GCTCAGTCATTGCATTCTGC -3'

Sequencing Primer
(F):5'- TCCTCAGAATCTACCAGC -3'
(R):5'- GCATTCTGCACAAACAATTTAAGGAG -3'

Posted On

2018-08-29