Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01608:Abca12'

91871

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Abca12

Ensembl Gene

ENSMUSG00000050296

Gene Name

ATP-binding cassette, sub-family A member 12

Synonyms

4833417A11Rik, 4832428G11Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01608

Quality Score

Status

Chromosome

Chromosomal Location

71282249-71454069 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 71298601 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 2340 (D2340E)

Ref Sequence

ENSEMBL: ENSMUSP00000084523 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087268]

AlphaFold

E9Q876

Predicted Effect

probably damaging
Transcript: ENSMUST00000087268
AA Change: D2340E

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

SMART Domains

Protein: ENSMUSP00000084523
Gene: ENSMUSG00000050296
AA Change: D2340E

Domain	Start	End	E-Value	Type
transmembrane domain	24	43	N/A	INTRINSIC
low complexity region	246	259	N/A	INTRINSIC
Pfam:ABC2_membrane_3	885	1267	2.9e-24	PFAM
AAA	1370	1554	4.2e-10	SMART
low complexity region	1717	1735	N/A	INTRINSIC
Pfam:ABC2_membrane_3	1744	2206	9.6e-35	PFAM
AAA	2282	2467	4.61e-7	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily, which is the only major ABC subfamily found exclusively in multicellular eukaryotes. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit neonatal lethality associated with defective skin development and abnormal lung morphology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	T	4: 53,038,158 (GRCm39)	L2068Q	probably damaging	Het
Adcy5	A	G	16: 35,092,535 (GRCm39)	Y632C	probably damaging	Het
Adgrb3	A	G	1: 25,592,855 (GRCm39)	S311P	probably damaging	Het
Adh4	C	T	3: 138,134,788 (GRCm39)		probably benign	Het
Atf2	G	T	2: 73,649,422 (GRCm39)	H396Q	probably damaging	Het
Atp8a1	G	A	5: 67,970,479 (GRCm39)	R74*	probably null	Het
Brpf3	T	C	17: 29,040,491 (GRCm39)	S971P	probably benign	Het
Btn1a1	T	C	13: 23,645,778 (GRCm39)	E197G	probably benign	Het
Ccdc136	C	T	6: 29,406,113 (GRCm39)	A87V	possibly damaging	Het
Celf4	A	G	18: 25,630,560 (GRCm39)	L376P	probably damaging	Het
Chrm3	G	A	13: 9,928,634 (GRCm39)	A134V	possibly damaging	Het
Col19a1	G	A	1: 24,321,626 (GRCm39)	R961C	probably damaging	Het
Cr2	A	G	1: 194,837,528 (GRCm39)	V1190A	possibly damaging	Het
Dop1a	T	A	9: 86,389,614 (GRCm39)	S515T	probably benign	Het
Eprs1	T	A	1: 185,117,311 (GRCm39)		probably benign	Het
Fbn2	G	T	18: 58,186,776 (GRCm39)	Y1708*	probably null	Het
Glt1d1	A	G	5: 127,741,746 (GRCm39)	N148S	possibly damaging	Het
Gm20425	T	A	9: 103,068,293 (GRCm39)	I44F	probably damaging	Het
Gpr22	T	A	12: 31,758,779 (GRCm39)	K411*	probably null	Het
Ipo11	A	G	13: 106,971,002 (GRCm39)		probably benign	Het
Klri1	T	A	6: 129,675,130 (GRCm39)	N210I	possibly damaging	Het
Kmt2c	C	T	5: 25,559,809 (GRCm39)	V950M	probably damaging	Het
Knop1	T	C	7: 118,445,019 (GRCm39)	K315R	probably benign	Het
Krt90	A	G	15: 101,471,064 (GRCm39)	I66T	probably benign	Het
Lrrc32	T	A	7: 98,148,564 (GRCm39)	V448D	probably benign	Het
Met	T	C	6: 17,558,729 (GRCm39)	V1119A	probably damaging	Het
Minar1	T	C	9: 89,478,551 (GRCm39)	T832A	probably benign	Het
Mipep	T	A	14: 61,039,679 (GRCm39)	I236N	possibly damaging	Het
Mrpl45	A	G	11: 97,207,747 (GRCm39)	T81A	probably benign	Het
Mtbp	G	T	15: 55,421,085 (GRCm39)	E24*	probably null	Het
Muc5b	C	T	7: 141,400,174 (GRCm39)	T476I	unknown	Het
Mup6	C	T	4: 60,006,021 (GRCm39)	T163I	probably benign	Het
Myo1g	T	A	11: 6,466,780 (GRCm39)	I278F	possibly damaging	Het
Myo9a	A	T	9: 59,778,119 (GRCm39)	K1292*	probably null	Het
Nbeal1	T	A	1: 60,281,694 (GRCm39)		probably benign	Het
Nck1	C	A	9: 100,379,440 (GRCm39)	R270S	probably benign	Het
Neb	T	C	2: 52,060,548 (GRCm39)	E6035G	probably damaging	Het
Nlrp4f	A	C	13: 65,343,357 (GRCm39)	L96*	probably null	Het
Or11g1	A	T	14: 50,651,910 (GRCm39)	H303L	probably benign	Het
Or4a77	A	T	2: 89,486,835 (GRCm39)		probably benign	Het
Or51l14	A	T	7: 103,101,011 (GRCm39)	I156F	probably benign	Het
Or5t18	A	C	2: 86,636,769 (GRCm39)	Y191*	probably null	Het
Padi2	A	G	4: 140,659,541 (GRCm39)	E282G	probably damaging	Het
Pcdhb4	A	G	18: 37,441,803 (GRCm39)	D371G	probably damaging	Het
Pcdhb8	A	G	18: 37,489,978 (GRCm39)	D552G	probably damaging	Het
Peli3	A	G	19: 4,982,855 (GRCm39)	I270T	probably damaging	Het
Phf20	A	G	2: 156,118,516 (GRCm39)	M407V	probably benign	Het
Ppm1h	C	T	10: 122,777,185 (GRCm39)	R103*	probably null	Het
Rangap1	C	T	15: 81,593,705 (GRCm39)	V457M	probably benign	Het
Scube2	A	G	7: 109,442,461 (GRCm39)	V257A	probably benign	Het
Shc1	C	A	3: 89,332,156 (GRCm39)	Q204K	probably damaging	Het
Slc6a4	T	A	11: 76,917,961 (GRCm39)	Y568N	probably damaging	Het
Srgap3	A	G	6: 112,923,439 (GRCm39)	F7L	probably benign	Het
St6galnac4	T	A	2: 32,484,098 (GRCm39)	C99S	probably damaging	Het
Strc	T	C	2: 121,206,075 (GRCm39)	D779G	probably benign	Het
Supt6	A	T	11: 78,116,309 (GRCm39)	Y685N	probably damaging	Het
Traf3ip3	T	C	1: 192,869,418 (GRCm39)	T256A	probably benign	Het
Vmn1r74	A	T	7: 11,581,560 (GRCm39)	I287F	probably damaging	Het
Zmym2	C	A	14: 57,185,472 (GRCm39)	Q1035K	possibly damaging	Het
Zswim3	G	A	2: 164,663,440 (GRCm39)	R640H	probably damaging	Het

Other mutations in Abca12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Abca12	APN	1	71,342,700 (GRCm39)	missense	possibly damaging	0.64
IGL00556:Abca12	APN	1	71,392,916 (GRCm39)	missense	probably benign	0.00
IGL00813:Abca12	APN	1	71,392,921 (GRCm39)	critical splice acceptor site	probably null
IGL00835:Abca12	APN	1	71,341,892 (GRCm39)	missense	probably damaging	1.00
IGL00921:Abca12	APN	1	71,324,888 (GRCm39)	missense	probably damaging	1.00
IGL01011:Abca12	APN	1	71,302,791 (GRCm39)	missense	probably benign	0.02
IGL01066:Abca12	APN	1	71,392,889 (GRCm39)	missense	possibly damaging	0.95
IGL01082:Abca12	APN	1	71,353,273 (GRCm39)	missense	probably damaging	1.00
IGL01310:Abca12	APN	1	71,323,315 (GRCm39)	missense	probably benign	0.00
IGL01360:Abca12	APN	1	71,325,648 (GRCm39)	missense	possibly damaging	0.95
IGL01585:Abca12	APN	1	71,359,045 (GRCm39)	missense	probably benign	0.00
IGL01687:Abca12	APN	1	71,306,769 (GRCm39)	splice site	probably benign
IGL01700:Abca12	APN	1	71,319,549 (GRCm39)	missense	probably benign
IGL01723:Abca12	APN	1	71,353,327 (GRCm39)	missense	probably benign	0.01
IGL01804:Abca12	APN	1	71,315,342 (GRCm39)	missense	probably benign	0.01
IGL01982:Abca12	APN	1	71,385,857 (GRCm39)	missense	probably benign	0.34
IGL02136:Abca12	APN	1	71,286,301 (GRCm39)	missense	probably damaging	1.00
IGL02172:Abca12	APN	1	71,341,817 (GRCm39)	missense	probably benign	0.09
IGL02222:Abca12	APN	1	71,322,045 (GRCm39)	missense	probably benign	0.40
IGL02266:Abca12	APN	1	71,307,360 (GRCm39)	nonsense	probably null
IGL02449:Abca12	APN	1	71,440,908 (GRCm39)	splice site	probably null
IGL02471:Abca12	APN	1	71,297,357 (GRCm39)	missense	probably benign	0.00
IGL02496:Abca12	APN	1	71,327,712 (GRCm39)	missense	possibly damaging	0.55
IGL02552:Abca12	APN	1	71,333,906 (GRCm39)	missense	probably damaging	0.96
IGL02795:Abca12	APN	1	71,327,907 (GRCm39)	missense	probably damaging	1.00
IGL03000:Abca12	APN	1	71,360,959 (GRCm39)	missense	probably benign	0.01
IGL03031:Abca12	APN	1	71,353,183 (GRCm39)	missense	probably benign	0.00
IGL03131:Abca12	APN	1	71,385,861 (GRCm39)	missense	probably benign
IGL03260:Abca12	APN	1	71,323,258 (GRCm39)	missense	probably damaging	1.00
IGL03324:Abca12	APN	1	71,353,167 (GRCm39)	missense	probably benign
IGL03408:Abca12	APN	1	71,303,954 (GRCm39)	missense	probably damaging	1.00
R0016:Abca12	UTSW	1	71,333,959 (GRCm39)	missense	probably benign	0.35
R0016:Abca12	UTSW	1	71,333,959 (GRCm39)	missense	probably benign	0.35
R0121:Abca12	UTSW	1	71,298,945 (GRCm39)	splice site	probably null
R0172:Abca12	UTSW	1	71,318,561 (GRCm39)	missense	probably damaging	0.99
R0196:Abca12	UTSW	1	71,298,972 (GRCm39)	missense	possibly damaging	0.81
R0400:Abca12	UTSW	1	71,298,935 (GRCm39)	splice site	probably benign
R0466:Abca12	UTSW	1	71,341,822 (GRCm39)	missense	probably damaging	1.00
R0616:Abca12	UTSW	1	71,341,830 (GRCm39)	missense	probably damaging	1.00
R0668:Abca12	UTSW	1	71,302,773 (GRCm39)	missense	probably damaging	1.00
R0928:Abca12	UTSW	1	71,388,333 (GRCm39)	missense	probably benign	0.06
R1036:Abca12	UTSW	1	71,302,569 (GRCm39)	critical splice donor site	probably null
R1086:Abca12	UTSW	1	71,334,220 (GRCm39)	splice site	probably benign
R1300:Abca12	UTSW	1	71,283,967 (GRCm39)	missense	probably damaging	1.00
R1337:Abca12	UTSW	1	71,333,978 (GRCm39)	missense	probably benign	0.03
R1356:Abca12	UTSW	1	71,342,112 (GRCm39)	splice site	probably benign
R1372:Abca12	UTSW	1	71,334,016 (GRCm39)	missense	probably damaging	1.00
R1434:Abca12	UTSW	1	71,348,959 (GRCm39)	missense	probably benign	0.00
R1580:Abca12	UTSW	1	71,305,124 (GRCm39)	missense	possibly damaging	0.65
R1675:Abca12	UTSW	1	71,302,570 (GRCm39)	critical splice donor site	probably null
R1773:Abca12	UTSW	1	71,327,755 (GRCm39)	missense	probably damaging	1.00
R1829:Abca12	UTSW	1	71,334,188 (GRCm39)	missense	probably benign	0.26
R1922:Abca12	UTSW	1	71,359,083 (GRCm39)	missense	probably benign	0.10
R1927:Abca12	UTSW	1	71,283,999 (GRCm39)	missense	probably damaging	1.00
R2115:Abca12	UTSW	1	71,283,930 (GRCm39)	missense	probably benign	0.01
R2146:Abca12	UTSW	1	71,302,647 (GRCm39)	missense	probably benign	0.02
R2148:Abca12	UTSW	1	71,302,647 (GRCm39)	missense	probably benign	0.02
R2149:Abca12	UTSW	1	71,302,647 (GRCm39)	missense	probably benign	0.02
R2150:Abca12	UTSW	1	71,302,647 (GRCm39)	missense	probably benign	0.02
R2299:Abca12	UTSW	1	71,297,381 (GRCm39)	missense	probably damaging	1.00
R2392:Abca12	UTSW	1	71,297,264 (GRCm39)	missense	probably damaging	1.00
R2571:Abca12	UTSW	1	71,289,044 (GRCm39)	missense	probably benign	0.00
R3077:Abca12	UTSW	1	71,306,764 (GRCm39)	missense	probably benign	0.02
R3078:Abca12	UTSW	1	71,306,764 (GRCm39)	missense	probably benign	0.02
R3705:Abca12	UTSW	1	71,324,864 (GRCm39)	missense	probably damaging	1.00
R3800:Abca12	UTSW	1	71,305,046 (GRCm39)	missense	probably damaging	1.00
R3905:Abca12	UTSW	1	71,318,616 (GRCm39)	missense	probably benign	0.02
R3905:Abca12	UTSW	1	71,307,389 (GRCm39)	missense	possibly damaging	0.79
R3962:Abca12	UTSW	1	71,313,674 (GRCm39)	splice site	probably null
R4082:Abca12	UTSW	1	71,306,622 (GRCm39)	missense	possibly damaging	0.64
R4131:Abca12	UTSW	1	71,359,030 (GRCm39)	critical splice donor site	probably null
R4214:Abca12	UTSW	1	71,327,856 (GRCm39)	missense	probably damaging	0.99
R4403:Abca12	UTSW	1	71,306,595 (GRCm39)	missense	probably damaging	1.00
R4524:Abca12	UTSW	1	71,342,076 (GRCm39)	missense	probably benign	0.19
R4615:Abca12	UTSW	1	71,369,493 (GRCm39)	missense	probably benign
R4617:Abca12	UTSW	1	71,369,493 (GRCm39)	missense	probably benign
R4714:Abca12	UTSW	1	71,360,609 (GRCm39)	missense	probably benign	0.00
R4809:Abca12	UTSW	1	71,318,015 (GRCm39)	missense	probably benign	0.10
R4810:Abca12	UTSW	1	71,342,771 (GRCm39)	missense	probably benign	0.00
R4825:Abca12	UTSW	1	71,341,844 (GRCm39)	missense	possibly damaging	0.70
R4990:Abca12	UTSW	1	71,334,098 (GRCm39)	missense	possibly damaging	0.61
R5013:Abca12	UTSW	1	71,303,926 (GRCm39)	missense	probably damaging	0.99
R5026:Abca12	UTSW	1	71,356,383 (GRCm39)	missense	probably benign	0.04
R5064:Abca12	UTSW	1	71,340,119 (GRCm39)	missense	probably damaging	1.00
R5188:Abca12	UTSW	1	71,330,651 (GRCm39)	missense	probably benign	0.23
R5234:Abca12	UTSW	1	71,302,823 (GRCm39)	missense	probably damaging	0.99
R5267:Abca12	UTSW	1	71,374,933 (GRCm39)	splice site	probably benign
R5302:Abca12	UTSW	1	71,323,111 (GRCm39)	missense	possibly damaging	0.91
R5441:Abca12	UTSW	1	71,334,215 (GRCm39)	missense	probably damaging	1.00
R5451:Abca12	UTSW	1	71,334,076 (GRCm39)	missense	possibly damaging	0.94
R5526:Abca12	UTSW	1	71,331,605 (GRCm39)	missense	probably benign	0.29
R5529:Abca12	UTSW	1	71,304,040 (GRCm39)	missense	probably damaging	1.00
R5615:Abca12	UTSW	1	71,346,218 (GRCm39)	missense	probably damaging	1.00
R5649:Abca12	UTSW	1	71,330,501 (GRCm39)	missense	probably damaging	1.00
R5800:Abca12	UTSW	1	71,360,591 (GRCm39)	missense	possibly damaging	0.78
R5807:Abca12	UTSW	1	71,342,651 (GRCm39)	missense	probably damaging	1.00
R5878:Abca12	UTSW	1	71,385,792 (GRCm39)	missense	possibly damaging	0.79
R5987:Abca12	UTSW	1	71,297,257 (GRCm39)	missense	probably damaging	1.00
R6280:Abca12	UTSW	1	71,311,619 (GRCm39)	missense	probably benign	0.04
R6316:Abca12	UTSW	1	71,353,118 (GRCm39)	missense	probably benign	0.01
R6337:Abca12	UTSW	1	71,334,172 (GRCm39)	missense	probably damaging	1.00
R6383:Abca12	UTSW	1	71,286,343 (GRCm39)	missense	probably benign	0.03
R6564:Abca12	UTSW	1	71,349,009 (GRCm39)	missense	possibly damaging	0.57
R6582:Abca12	UTSW	1	71,297,384 (GRCm39)	missense	probably benign	0.00
R6756:Abca12	UTSW	1	71,298,512 (GRCm39)	splice site	probably null
R6876:Abca12	UTSW	1	71,302,667 (GRCm39)	missense	probably damaging	0.98
R6999:Abca12	UTSW	1	71,356,321 (GRCm39)	nonsense	probably null
R7145:Abca12	UTSW	1	71,346,212 (GRCm39)	missense	possibly damaging	0.92
R7272:Abca12	UTSW	1	71,287,591 (GRCm39)	missense	probably damaging	0.99
R7285:Abca12	UTSW	1	71,388,314 (GRCm39)	nonsense	probably null
R7421:Abca12	UTSW	1	71,286,295 (GRCm39)	nonsense	probably null
R7531:Abca12	UTSW	1	71,286,332 (GRCm39)	missense	probably damaging	0.99
R7592:Abca12	UTSW	1	71,327,836 (GRCm39)	missense	probably benign	0.01
R7687:Abca12	UTSW	1	71,297,341 (GRCm39)	missense	probably benign	0.00
R7690:Abca12	UTSW	1	71,353,313 (GRCm39)	missense	probably benign	0.00
R7709:Abca12	UTSW	1	71,374,887 (GRCm39)	missense	probably benign	0.00
R7736:Abca12	UTSW	1	71,359,123 (GRCm39)	missense	probably benign	0.01
R7754:Abca12	UTSW	1	71,342,046 (GRCm39)	missense	probably benign
R7761:Abca12	UTSW	1	71,369,447 (GRCm39)	missense	probably damaging	1.00
R7808:Abca12	UTSW	1	71,313,793 (GRCm39)	splice site	probably null
R7816:Abca12	UTSW	1	71,331,588 (GRCm39)	missense	probably benign	0.01
R7821:Abca12	UTSW	1	71,298,950 (GRCm39)	missense	probably benign	0.12
R7827:Abca12	UTSW	1	71,453,837 (GRCm39)	start gained	probably benign
R7829:Abca12	UTSW	1	71,331,580 (GRCm39)	missense	probably benign	0.37
R7863:Abca12	UTSW	1	71,332,656 (GRCm39)	missense	probably damaging	0.96
R8053:Abca12	UTSW	1	71,388,328 (GRCm39)	nonsense	probably null
R8093:Abca12	UTSW	1	71,319,552 (GRCm39)	missense	probably benign	0.00
R8120:Abca12	UTSW	1	71,298,540 (GRCm39)	missense	possibly damaging	0.92
R8136:Abca12	UTSW	1	71,287,556 (GRCm39)	missense	probably benign	0.15
R8155:Abca12	UTSW	1	71,330,497 (GRCm39)	missense	probably damaging	1.00
R8189:Abca12	UTSW	1	71,324,885 (GRCm39)	missense	probably damaging	1.00
R8233:Abca12	UTSW	1	71,390,916 (GRCm39)	missense	probably benign	0.00
R8249:Abca12	UTSW	1	71,360,971 (GRCm39)	missense	probably benign	0.00
R8255:Abca12	UTSW	1	71,359,058 (GRCm39)	missense	probably benign	0.13
R8300:Abca12	UTSW	1	71,353,123 (GRCm39)	missense	possibly damaging	0.77
R8339:Abca12	UTSW	1	71,324,831 (GRCm39)	missense	probably damaging	1.00
R8490:Abca12	UTSW	1	71,323,256 (GRCm39)	missense	probably damaging	1.00
R8494:Abca12	UTSW	1	71,327,821 (GRCm39)	missense	probably benign	0.02
R8527:Abca12	UTSW	1	71,349,047 (GRCm39)	critical splice acceptor site	probably null
R8542:Abca12	UTSW	1	71,349,047 (GRCm39)	critical splice acceptor site	probably null
R8692:Abca12	UTSW	1	71,327,874 (GRCm39)	missense	probably damaging	0.96
R8723:Abca12	UTSW	1	71,360,897 (GRCm39)	missense	probably benign	0.04
R8796:Abca12	UTSW	1	71,297,248 (GRCm39)	critical splice donor site	probably benign
R8911:Abca12	UTSW	1	71,380,690 (GRCm39)	missense	probably benign	0.07
R8913:Abca12	UTSW	1	71,303,972 (GRCm39)	missense	probably damaging	1.00
R8957:Abca12	UTSW	1	71,360,784 (GRCm39)	missense	possibly damaging	0.90
R9000:Abca12	UTSW	1	71,353,195 (GRCm39)	missense	probably damaging	1.00
R9137:Abca12	UTSW	1	71,298,525 (GRCm39)	missense	possibly damaging	0.80
R9228:Abca12	UTSW	1	71,332,599 (GRCm39)	missense	probably damaging	1.00
R9237:Abca12	UTSW	1	71,318,557 (GRCm39)	missense	probably damaging	0.97
R9299:Abca12	UTSW	1	71,359,042 (GRCm39)	missense	possibly damaging	0.48
R9419:Abca12	UTSW	1	71,342,649 (GRCm39)	missense	possibly damaging	0.81
R9492:Abca12	UTSW	1	71,297,380 (GRCm39)	missense	possibly damaging	0.81
R9538:Abca12	UTSW	1	71,380,672 (GRCm39)	missense	probably benign	0.04
R9585:Abca12	UTSW	1	71,342,745 (GRCm39)	missense	probably damaging	1.00
R9658:Abca12	UTSW	1	71,325,634 (GRCm39)	missense	probably damaging	0.97
R9763:Abca12	UTSW	1	71,302,717 (GRCm39)	missense	possibly damaging	0.84
X0013:Abca12	UTSW	1	71,287,592 (GRCm39)	missense	probably damaging	0.99
X0018:Abca12	UTSW	1	71,353,669 (GRCm39)	missense	probably benign
X0063:Abca12	UTSW	1	71,388,223 (GRCm39)	missense	probably benign	0.15
X0065:Abca12	UTSW	1	71,380,620 (GRCm39)	critical splice donor site	probably null
Z1176:Abca12	UTSW	1	71,323,229 (GRCm39)	missense	probably damaging	1.00
Z1177:Abca12	UTSW	1	71,331,690 (GRCm39)	missense	probably damaging	0.98
Z1177:Abca12	UTSW	1	71,321,970 (GRCm39)	missense	probably damaging	0.98
Z1177:Abca12	UTSW	1	71,315,241 (GRCm39)	missense	possibly damaging	0.94

Posted On

2013-12-09