Mutagenetix > Incidental Mutation

Incidental Mutation 'R1580:Abca12'

171332

Institutional Source

Beutler Lab

Gene Symbol

Abca12

Ensembl Gene

ENSMUSG00000050296

Gene Name

ATP-binding cassette, sub-family A (ABC1), member 12

Synonyms

4833417A11Rik, 4832428G11Rik

MMRRC Submission

039617-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1580 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

71242276-71414910 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 71265965 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 2044 (V2044I)

Ref Sequence

ENSEMBL: ENSMUSP00000084523 (fasta)

Gene Model

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

AlphaFold

E9Q876

Predicted Effect

possibly damaging
Transcript: ENSMUST00000087268
AA Change: V2044I

PolyPhen 2 Score 0.648 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000084523
Gene: ENSMUSG00000050296
AA Change: V2044I

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.4%
20x: 89.8%

Validation Efficiency

96% (43/45)

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	G	13: 81,466,160 (GRCm38)		probably null	Het
Arhgef38	T	C	3: 133,133,704 (GRCm38)	Q526R	probably benign	Het
Atp2c2	A	G	8: 119,752,987 (GRCm38)	N752D	probably benign	Het
Atp6v0a1	T	C	11: 101,029,204 (GRCm38)	I221T	probably damaging	Het
Atp8b5	T	C	4: 43,355,673 (GRCm38)	V551A	possibly damaging	Het
B3galnt1	A	G	3: 69,575,707 (GRCm38)	S74P	possibly damaging	Het
Bcl2l13	A	G	6: 120,865,714 (GRCm38)	I123V	probably benign	Het
Brms1l	A	T	12: 55,868,222 (GRCm38)	K305N	probably damaging	Het
Ccdc82	C	T	9: 13,252,760 (GRCm38)	R226C	probably damaging	Het
Chst9	T	G	18: 15,453,065 (GRCm38)	K147T	probably benign	Het
Clec16a	A	G	16: 10,595,898 (GRCm38)	R390G	probably damaging	Het
Clec5a	G	T	6: 40,585,219 (GRCm38)	H4N	probably benign	Het
Csmd1	T	A	8: 15,925,299 (GRCm38)	Q2970L	probably damaging	Het
Cyp2a4	T	C	7: 26,307,651 (GRCm38)	I61T	possibly damaging	Het
Cyp3a16	T	A	5: 145,442,074 (GRCm38)	K379I	possibly damaging	Het
Cyp3a16	T	C	5: 145,442,075 (GRCm38)	K379E	probably damaging	Het
Dok2	A	G	14: 70,776,957 (GRCm38)	D195G	probably benign	Het
Emilin1	A	G	5: 30,917,420 (GRCm38)	E335G	probably damaging	Het
Fam205c	T	C	4: 42,874,020 (GRCm38)		probably null	Het
Gm7361	G	T	5: 26,257,770 (GRCm38)	L3F	probably damaging	Het
Haus1	T	C	18: 77,766,920 (GRCm38)	D50G	probably damaging	Het
Igf1r	T	C	7: 68,207,869 (GRCm38)	V1099A	probably benign	Het
Kif15	T	C	9: 122,959,956 (GRCm38)	V71A	probably benign	Het
Klk10	C	T	7: 43,782,862 (GRCm38)	A73V	probably damaging	Het
Lins1	C	A	7: 66,714,491 (GRCm38)	D711E	probably benign	Het
Mbtps1	C	T	8: 119,538,900 (GRCm38)	V303I	possibly damaging	Het
Mest	G	A	6: 30,745,823 (GRCm38)		probably benign	Het
Nup214	C	T	2: 32,034,466 (GRCm38)	S1669F	probably damaging	Het
Olfr299	A	G	7: 86,465,450 (GRCm38)	E13G	probably benign	Het
Olfr800	G	T	10: 129,660,315 (GRCm38)	V170F	probably benign	Het
Rfwd3	C	T	8: 111,288,242 (GRCm38)	R326Q	probably damaging	Het
Rtf2	A	G	2: 172,445,365 (GRCm38)	D68G	probably damaging	Het
Sbspon	C	A	1: 15,892,468 (GRCm38)	C62F	probably damaging	Het
Spg7	T	A	8: 123,090,238 (GRCm38)		probably benign	Het
Trabd2b	T	C	4: 114,580,334 (GRCm38)	V236A	possibly damaging	Het
Vmn2r10	A	T	5: 109,006,251 (GRCm38)	N62K	possibly damaging	Het
Vmn2r45	T	G	7: 8,471,747 (GRCm38)	S761R	possibly damaging	Het
Zfp580	C	T	7: 5,053,285 (GRCm38)	R215C	probably damaging	Het
Zfpm2	A	G	15: 41,103,209 (GRCm38)	D898G	possibly damaging	Het

Other mutations in Abca12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Abca12	APN	1	71,303,541 (GRCm38)	missense	possibly damaging	0.64
IGL00556:Abca12	APN	1	71,353,757 (GRCm38)	missense	probably benign	0.00
IGL00813:Abca12	APN	1	71,353,762 (GRCm38)	critical splice acceptor site	probably null
IGL00835:Abca12	APN	1	71,302,733 (GRCm38)	missense	probably damaging	1.00
IGL00921:Abca12	APN	1	71,285,729 (GRCm38)	missense	probably damaging	1.00
IGL01011:Abca12	APN	1	71,263,632 (GRCm38)	missense	probably benign	0.02
IGL01066:Abca12	APN	1	71,353,730 (GRCm38)	missense	possibly damaging	0.95
IGL01082:Abca12	APN	1	71,314,114 (GRCm38)	missense	probably damaging	1.00
IGL01310:Abca12	APN	1	71,284,156 (GRCm38)	missense	probably benign	0.00
IGL01360:Abca12	APN	1	71,286,489 (GRCm38)	missense	possibly damaging	0.95
IGL01585:Abca12	APN	1	71,319,886 (GRCm38)	missense	probably benign	0.00
IGL01608:Abca12	APN	1	71,259,442 (GRCm38)	missense	probably damaging	1.00
IGL01687:Abca12	APN	1	71,267,610 (GRCm38)	splice site	probably benign
IGL01700:Abca12	APN	1	71,280,390 (GRCm38)	missense	probably benign
IGL01723:Abca12	APN	1	71,314,168 (GRCm38)	missense	probably benign	0.01
IGL01804:Abca12	APN	1	71,276,183 (GRCm38)	missense	probably benign	0.01
IGL01982:Abca12	APN	1	71,346,698 (GRCm38)	missense	probably benign	0.34
IGL02136:Abca12	APN	1	71,247,142 (GRCm38)	missense	probably damaging	1.00
IGL02172:Abca12	APN	1	71,302,658 (GRCm38)	missense	probably benign	0.09
IGL02222:Abca12	APN	1	71,282,886 (GRCm38)	missense	probably benign	0.40
IGL02266:Abca12	APN	1	71,268,201 (GRCm38)	nonsense	probably null
IGL02449:Abca12	APN	1	71,401,749 (GRCm38)	splice site	probably null
IGL02471:Abca12	APN	1	71,258,198 (GRCm38)	missense	probably benign	0.00
IGL02496:Abca12	APN	1	71,288,553 (GRCm38)	missense	possibly damaging	0.55
IGL02552:Abca12	APN	1	71,294,747 (GRCm38)	missense	probably damaging	0.96
IGL02795:Abca12	APN	1	71,288,748 (GRCm38)	missense	probably damaging	1.00
IGL03000:Abca12	APN	1	71,321,800 (GRCm38)	missense	probably benign	0.01
IGL03031:Abca12	APN	1	71,314,024 (GRCm38)	missense	probably benign	0.00
IGL03131:Abca12	APN	1	71,346,702 (GRCm38)	missense	probably benign
IGL03260:Abca12	APN	1	71,284,099 (GRCm38)	missense	probably damaging	1.00
IGL03324:Abca12	APN	1	71,314,008 (GRCm38)	missense	probably benign
IGL03408:Abca12	APN	1	71,264,795 (GRCm38)	missense	probably damaging	1.00
R0016:Abca12	UTSW	1	71,294,800 (GRCm38)	missense	probably benign	0.35
R0016:Abca12	UTSW	1	71,294,800 (GRCm38)	missense	probably benign	0.35
R0121:Abca12	UTSW	1	71,259,786 (GRCm38)	splice site	probably null
R0172:Abca12	UTSW	1	71,279,402 (GRCm38)	missense	probably damaging	0.99
R0196:Abca12	UTSW	1	71,259,813 (GRCm38)	missense	possibly damaging	0.81
R0400:Abca12	UTSW	1	71,259,776 (GRCm38)	splice site	probably benign
R0466:Abca12	UTSW	1	71,302,663 (GRCm38)	missense	probably damaging	1.00
R0616:Abca12	UTSW	1	71,302,671 (GRCm38)	missense	probably damaging	1.00
R0668:Abca12	UTSW	1	71,263,614 (GRCm38)	missense	probably damaging	1.00
R0928:Abca12	UTSW	1	71,349,174 (GRCm38)	missense	probably benign	0.06
R1036:Abca12	UTSW	1	71,263,410 (GRCm38)	critical splice donor site	probably null
R1086:Abca12	UTSW	1	71,295,061 (GRCm38)	splice site	probably benign
R1300:Abca12	UTSW	1	71,244,808 (GRCm38)	missense	probably damaging	1.00
R1337:Abca12	UTSW	1	71,294,819 (GRCm38)	missense	probably benign	0.03
R1356:Abca12	UTSW	1	71,302,953 (GRCm38)	splice site	probably benign
R1372:Abca12	UTSW	1	71,294,857 (GRCm38)	missense	probably damaging	1.00
R1434:Abca12	UTSW	1	71,309,800 (GRCm38)	missense	probably benign	0.00
R1675:Abca12	UTSW	1	71,263,411 (GRCm38)	critical splice donor site	probably null
R1773:Abca12	UTSW	1	71,288,596 (GRCm38)	missense	probably damaging	1.00
R1829:Abca12	UTSW	1	71,295,029 (GRCm38)	missense	probably benign	0.26
R1922:Abca12	UTSW	1	71,319,924 (GRCm38)	missense	probably benign	0.10
R1927:Abca12	UTSW	1	71,244,840 (GRCm38)	missense	probably damaging	1.00
R2115:Abca12	UTSW	1	71,244,771 (GRCm38)	missense	probably benign	0.01
R2146:Abca12	UTSW	1	71,263,488 (GRCm38)	missense	probably benign	0.02
R2148:Abca12	UTSW	1	71,263,488 (GRCm38)	missense	probably benign	0.02
R2149:Abca12	UTSW	1	71,263,488 (GRCm38)	missense	probably benign	0.02
R2150:Abca12	UTSW	1	71,263,488 (GRCm38)	missense	probably benign	0.02
R2299:Abca12	UTSW	1	71,258,222 (GRCm38)	missense	probably damaging	1.00
R2392:Abca12	UTSW	1	71,258,105 (GRCm38)	missense	probably damaging	1.00
R2571:Abca12	UTSW	1	71,249,885 (GRCm38)	missense	probably benign	0.00
R3077:Abca12	UTSW	1	71,267,605 (GRCm38)	missense	probably benign	0.02
R3078:Abca12	UTSW	1	71,267,605 (GRCm38)	missense	probably benign	0.02
R3705:Abca12	UTSW	1	71,285,705 (GRCm38)	missense	probably damaging	1.00
R3800:Abca12	UTSW	1	71,265,887 (GRCm38)	missense	probably damaging	1.00
R3905:Abca12	UTSW	1	71,279,457 (GRCm38)	missense	probably benign	0.02
R3905:Abca12	UTSW	1	71,268,230 (GRCm38)	missense	possibly damaging	0.79
R3962:Abca12	UTSW	1	71,274,515 (GRCm38)	splice site	probably null
R4082:Abca12	UTSW	1	71,267,463 (GRCm38)	missense	possibly damaging	0.64
R4131:Abca12	UTSW	1	71,319,871 (GRCm38)	critical splice donor site	probably null
R4214:Abca12	UTSW	1	71,288,697 (GRCm38)	missense	probably damaging	0.99
R4403:Abca12	UTSW	1	71,267,436 (GRCm38)	missense	probably damaging	1.00
R4524:Abca12	UTSW	1	71,302,917 (GRCm38)	missense	probably benign	0.19
R4615:Abca12	UTSW	1	71,330,334 (GRCm38)	missense	probably benign
R4617:Abca12	UTSW	1	71,330,334 (GRCm38)	missense	probably benign
R4714:Abca12	UTSW	1	71,321,450 (GRCm38)	missense	probably benign	0.00
R4809:Abca12	UTSW	1	71,278,856 (GRCm38)	missense	probably benign	0.10
R4810:Abca12	UTSW	1	71,303,612 (GRCm38)	missense	probably benign	0.00
R4825:Abca12	UTSW	1	71,302,685 (GRCm38)	missense	possibly damaging	0.70
R4990:Abca12	UTSW	1	71,294,939 (GRCm38)	missense	possibly damaging	0.61
R5013:Abca12	UTSW	1	71,264,767 (GRCm38)	missense	probably damaging	0.99
R5026:Abca12	UTSW	1	71,317,224 (GRCm38)	missense	probably benign	0.04
R5064:Abca12	UTSW	1	71,300,960 (GRCm38)	missense	probably damaging	1.00
R5188:Abca12	UTSW	1	71,291,492 (GRCm38)	missense	probably benign	0.23
R5234:Abca12	UTSW	1	71,263,664 (GRCm38)	missense	probably damaging	0.99
R5267:Abca12	UTSW	1	71,335,774 (GRCm38)	splice site	probably benign
R5302:Abca12	UTSW	1	71,283,952 (GRCm38)	missense	possibly damaging	0.91
R5441:Abca12	UTSW	1	71,295,056 (GRCm38)	missense	probably damaging	1.00
R5451:Abca12	UTSW	1	71,294,917 (GRCm38)	missense	possibly damaging	0.94
R5526:Abca12	UTSW	1	71,292,446 (GRCm38)	missense	probably benign	0.29
R5529:Abca12	UTSW	1	71,264,881 (GRCm38)	missense	probably damaging	1.00
R5615:Abca12	UTSW	1	71,307,059 (GRCm38)	missense	probably damaging	1.00
R5649:Abca12	UTSW	1	71,291,342 (GRCm38)	missense	probably damaging	1.00
R5800:Abca12	UTSW	1	71,321,432 (GRCm38)	missense	possibly damaging	0.78
R5807:Abca12	UTSW	1	71,303,492 (GRCm38)	missense	probably damaging	1.00
R5878:Abca12	UTSW	1	71,346,633 (GRCm38)	missense	possibly damaging	0.79
R5987:Abca12	UTSW	1	71,258,098 (GRCm38)	missense	probably damaging	1.00
R6280:Abca12	UTSW	1	71,272,460 (GRCm38)	missense	probably benign	0.04
R6316:Abca12	UTSW	1	71,313,959 (GRCm38)	missense	probably benign	0.01
R6337:Abca12	UTSW	1	71,295,013 (GRCm38)	missense	probably damaging	1.00
R6383:Abca12	UTSW	1	71,247,184 (GRCm38)	missense	probably benign	0.03
R6564:Abca12	UTSW	1	71,309,850 (GRCm38)	missense	possibly damaging	0.57
R6582:Abca12	UTSW	1	71,258,225 (GRCm38)	missense	probably benign	0.00
R6756:Abca12	UTSW	1	71,259,353 (GRCm38)	splice site	probably null
R6876:Abca12	UTSW	1	71,263,508 (GRCm38)	missense	probably damaging	0.98
R6999:Abca12	UTSW	1	71,317,162 (GRCm38)	nonsense	probably null
R7145:Abca12	UTSW	1	71,307,053 (GRCm38)	missense	possibly damaging	0.92
R7272:Abca12	UTSW	1	71,248,432 (GRCm38)	missense	probably damaging	0.99
R7285:Abca12	UTSW	1	71,349,155 (GRCm38)	nonsense	probably null
R7421:Abca12	UTSW	1	71,247,136 (GRCm38)	nonsense	probably null
R7531:Abca12	UTSW	1	71,247,173 (GRCm38)	missense	probably damaging	0.99
R7592:Abca12	UTSW	1	71,288,677 (GRCm38)	missense	probably benign	0.01
R7687:Abca12	UTSW	1	71,258,182 (GRCm38)	missense	probably benign	0.00
R7690:Abca12	UTSW	1	71,314,154 (GRCm38)	missense	probably benign	0.00
R7709:Abca12	UTSW	1	71,335,728 (GRCm38)	missense	probably benign	0.00
R7736:Abca12	UTSW	1	71,319,964 (GRCm38)	missense	probably benign	0.01
R7754:Abca12	UTSW	1	71,302,887 (GRCm38)	missense	probably benign
R7761:Abca12	UTSW	1	71,330,288 (GRCm38)	missense	probably damaging	1.00
R7808:Abca12	UTSW	1	71,274,634 (GRCm38)	splice site	probably null
R7816:Abca12	UTSW	1	71,292,429 (GRCm38)	missense	probably benign	0.01
R7821:Abca12	UTSW	1	71,259,791 (GRCm38)	missense	probably benign	0.12
R7827:Abca12	UTSW	1	71,414,678 (GRCm38)	start gained	probably benign
R7829:Abca12	UTSW	1	71,292,421 (GRCm38)	missense	probably benign	0.37
R7863:Abca12	UTSW	1	71,293,497 (GRCm38)	missense	probably damaging	0.96
R8053:Abca12	UTSW	1	71,349,169 (GRCm38)	nonsense	probably null
R8093:Abca12	UTSW	1	71,280,393 (GRCm38)	missense	probably benign	0.00
R8120:Abca12	UTSW	1	71,259,381 (GRCm38)	missense	possibly damaging	0.92
R8136:Abca12	UTSW	1	71,248,397 (GRCm38)	missense	probably benign	0.15
R8155:Abca12	UTSW	1	71,291,338 (GRCm38)	missense	probably damaging	1.00
R8189:Abca12	UTSW	1	71,285,726 (GRCm38)	missense	probably damaging	1.00
R8233:Abca12	UTSW	1	71,351,757 (GRCm38)	missense	probably benign	0.00
R8249:Abca12	UTSW	1	71,321,812 (GRCm38)	missense	probably benign	0.00
R8255:Abca12	UTSW	1	71,319,899 (GRCm38)	missense	probably benign	0.13
R8300:Abca12	UTSW	1	71,313,964 (GRCm38)	missense	possibly damaging	0.77
R8339:Abca12	UTSW	1	71,285,672 (GRCm38)	missense	probably damaging	1.00
R8490:Abca12	UTSW	1	71,284,097 (GRCm38)	missense	probably damaging	1.00
R8494:Abca12	UTSW	1	71,288,662 (GRCm38)	missense	probably benign	0.02
R8527:Abca12	UTSW	1	71,309,888 (GRCm38)	critical splice acceptor site	probably null
R8542:Abca12	UTSW	1	71,309,888 (GRCm38)	critical splice acceptor site	probably null
R8692:Abca12	UTSW	1	71,288,715 (GRCm38)	missense	probably damaging	0.96
R8723:Abca12	UTSW	1	71,321,738 (GRCm38)	missense	probably benign	0.04
R8796:Abca12	UTSW	1	71,258,089 (GRCm38)	critical splice donor site	probably benign
R8911:Abca12	UTSW	1	71,341,531 (GRCm38)	missense	probably benign	0.07
R8913:Abca12	UTSW	1	71,264,813 (GRCm38)	missense	probably damaging	1.00
R8957:Abca12	UTSW	1	71,321,625 (GRCm38)	missense	possibly damaging	0.90
R9000:Abca12	UTSW	1	71,314,036 (GRCm38)	missense	probably damaging	1.00
R9137:Abca12	UTSW	1	71,259,366 (GRCm38)	missense	possibly damaging	0.80
R9228:Abca12	UTSW	1	71,293,440 (GRCm38)	missense	probably damaging	1.00
R9237:Abca12	UTSW	1	71,279,398 (GRCm38)	missense	probably damaging	0.97
R9299:Abca12	UTSW	1	71,319,883 (GRCm38)	missense	possibly damaging	0.48
R9419:Abca12	UTSW	1	71,303,490 (GRCm38)	missense	possibly damaging	0.81
R9492:Abca12	UTSW	1	71,258,221 (GRCm38)	missense	possibly damaging	0.81
R9538:Abca12	UTSW	1	71,341,513 (GRCm38)	missense	probably benign	0.04
R9585:Abca12	UTSW	1	71,303,586 (GRCm38)	missense	probably damaging	1.00
R9658:Abca12	UTSW	1	71,286,475 (GRCm38)	missense	probably damaging	0.97
R9763:Abca12	UTSW	1	71,263,558 (GRCm38)	missense	possibly damaging	0.84
X0013:Abca12	UTSW	1	71,248,433 (GRCm38)	missense	probably damaging	0.99
X0018:Abca12	UTSW	1	71,314,510 (GRCm38)	missense	probably benign
X0063:Abca12	UTSW	1	71,349,064 (GRCm38)	missense	probably benign	0.15
X0065:Abca12	UTSW	1	71,341,461 (GRCm38)	critical splice donor site	probably null
Z1176:Abca12	UTSW	1	71,284,070 (GRCm38)	missense	probably damaging	1.00
Z1177:Abca12	UTSW	1	71,292,531 (GRCm38)	missense	probably damaging	0.98
Z1177:Abca12	UTSW	1	71,282,811 (GRCm38)	missense	probably damaging	0.98
Z1177:Abca12	UTSW	1	71,276,082 (GRCm38)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- GATACCCAGTAAGTGCCTGTTCGTG -3'
(R):5'- TGAGAACTGTTGCCCTGATGCTTTG -3'

Sequencing Primer
(F):5'- GTGCCTGTTCGTGATAACAAC -3'
(R):5'- GATGCTTTGCACGAAATGCC -3'

Posted On

2014-04-13