Incidental Mutation 'R0928:Abca12'
ID 80586
Institutional Source Beutler Lab
Gene Symbol Abca12
Ensembl Gene ENSMUSG00000050296
Gene Name ATP-binding cassette, sub-family A (ABC1), member 12
Synonyms 4833417A11Rik, 4832428G11Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0928 (G1)
Quality Score 197
Status Not validated
Chromosome 1
Chromosomal Location 71242276-71414910 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 71349174 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 179 (D179V)
Ref Sequence ENSEMBL: ENSMUSP00000084523 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087268]
AlphaFold E9Q876
Predicted Effect probably benign
Transcript: ENSMUST00000087268
AA Change: D179V

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000084523
Gene: ENSMUSG00000050296
AA Change: D179V

DomainStartEndE-ValueType
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187097
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.1%
  • 10x: 93.0%
  • 20x: 75.6%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010300C02Rik T C 1: 37,624,582 (GRCm38) D745G possibly damaging Het
4931406P16Rik A T 7: 34,248,246 (GRCm38) probably null Het
Abcc1 T C 16: 14,389,985 (GRCm38) probably null Het
Adad1 G A 3: 37,076,740 (GRCm38) probably null Het
Apobec4 T C 1: 152,756,277 (GRCm38) Y19H probably damaging Het
Bco2 T A 9: 50,545,931 (GRCm38) T104S probably damaging Het
Bnc1 A G 7: 81,973,502 (GRCm38) V659A probably benign Het
Ccdc144b A C 3: 36,025,366 (GRCm38) N258K possibly damaging Het
Ccs T C 19: 4,825,960 (GRCm38) E184G probably damaging Het
Cfap70 T G 14: 20,443,919 (GRCm38) K97N probably damaging Het
Daam2 T C 17: 49,488,227 (GRCm38) I313V probably benign Het
Dach1 T C 14: 97,915,832 (GRCm38) S467G probably damaging Het
Dnah11 A G 12: 118,045,562 (GRCm38) S2122P probably damaging Het
Dnah3 T A 7: 120,030,051 (GRCm38) D1427V probably damaging Het
Dnaic1 T C 4: 41,602,566 (GRCm38) F97L possibly damaging Het
Dsc1 A T 18: 20,110,249 (GRCm38) probably null Het
En2 A T 5: 28,170,331 (GRCm38) K291* probably null Het
Eps15 T C 4: 109,312,963 (GRCm38) V154A possibly damaging Het
Etnk1 A G 6: 143,184,703 (GRCm38) I183V probably benign Het
Fcrlb A T 1: 170,907,940 (GRCm38) V255D possibly damaging Het
Fry A T 5: 150,437,084 (GRCm38) E52V probably damaging Het
Gm8251 C A 1: 44,057,228 (GRCm38) S1570I possibly damaging Het
Gtf2h4 T C 17: 35,670,885 (GRCm38) Y152C probably damaging Het
Hao1 C A 2: 134,505,616 (GRCm38) L256F possibly damaging Het
Helz T A 11: 107,626,693 (GRCm38) I685K probably damaging Het
Hjurp GT GTT 1: 88,266,524 (GRCm38) probably null Het
Izumo2 A T 7: 44,715,423 (GRCm38) I171F possibly damaging Het
Krt83 C A 15: 101,491,280 (GRCm38) C57F probably benign Het
Mapkbp1 A G 2: 120,015,368 (GRCm38) H400R probably benign Het
Megf6 T A 4: 154,177,047 (GRCm38) V43E probably damaging Het
Mut T C 17: 40,937,283 (GRCm38) I67T probably benign Het
Ninl A T 2: 150,963,475 (GRCm38) V396E probably damaging Het
Nvl A T 1: 181,093,902 (GRCm38) V844E probably benign Het
Olfr11 C T 13: 21,638,956 (GRCm38) C189Y probably damaging Het
P2rx3 A T 2: 85,035,298 (GRCm38) M1K probably null Het
Pabpn1l T C 8: 122,622,619 (GRCm38) T20A probably benign Het
Ppp3r2 C A 4: 49,681,439 (GRCm38) probably null Het
Prmt6 C T 3: 110,250,682 (GRCm38) G97D probably damaging Het
Prmt9 T C 8: 77,581,176 (GRCm38) V823A probably damaging Het
Skint11 C A 4: 114,244,601 (GRCm38) D79E possibly damaging Het
Slc17a8 T A 10: 89,598,683 (GRCm38) H194L probably damaging Het
Slco6c1 T A 1: 97,104,848 (GRCm38) I293F possibly damaging Het
Tcl1b4 A T 12: 105,202,606 (GRCm38) H43L probably benign Het
Tm9sf1 T C 14: 55,636,457 (GRCm38) D528G probably damaging Het
Tpbpb C T 13: 60,902,175 (GRCm38) V47I probably benign Het
Ttc37 T G 13: 76,113,592 (GRCm38) L142W probably damaging Het
Ttn G T 2: 76,907,532 (GRCm38) probably benign Het
Usp28 T G 9: 49,030,891 (GRCm38) S341A possibly damaging Het
Vwa5a T C 9: 38,728,007 (GRCm38) Y345H probably damaging Het
Wdr11 C A 7: 129,606,653 (GRCm38) D377E probably damaging Het
Zer1 A G 2: 30,101,763 (GRCm38) probably null Het
Other mutations in Abca12
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R1580:Abca12 UTSW 1 71,265,965 (GRCm38) missense possibly damaging 0.65
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'- AGAGAATCTGCACTCACCTGAGAGAC -3'
(R):5'- AGGAAATGTAAGCCATCTGCCCAC -3'

Sequencing Primer
(F):5'- CCTGAGAGACTTGATATTTTAGTTCC -3'
(R):5'- TCGGTCCTAAGAAAGACTATGAC -3'
Posted On 2013-11-07