Incidental Mutation 'R3078:Abca12'
ID 265272
Institutional Source Beutler Lab
Gene Symbol Abca12
Ensembl Gene ENSMUSG00000050296
Gene Name ATP-binding cassette, sub-family A member 12
Synonyms 4833417A11Rik, 4832428G11Rik
MMRRC Submission 040568-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3078 (G1)
Quality Score 217
Status Validated
Chromosome 1
Chromosomal Location 71282249-71454069 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 71306764 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 1981 (I1981V)
Ref Sequence ENSEMBL: ENSMUSP00000084523 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087268]
AlphaFold E9Q876
Predicted Effect probably benign
Transcript: ENSMUST00000087268
AA Change: I1981V

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000084523
Gene: ENSMUSG00000050296
AA Change: I1981V

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
Meta Mutation Damage Score 0.1072 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 93% (42/45)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr3b A G 5: 26,027,440 (GRCm39) Y37C probably damaging Het
Adgrd1 A T 5: 129,206,169 (GRCm39) I248F probably benign Het
Alg10b T C 15: 90,112,139 (GRCm39) S328P probably benign Het
C5ar2 G A 7: 15,971,349 (GRCm39) R193C probably damaging Het
Cct8 A G 16: 87,285,765 (GRCm39) V231A possibly damaging Het
Clca4a C T 3: 144,674,014 (GRCm39) M240I probably damaging Het
Cmya5 A T 13: 93,185,435 (GRCm39) I3520N probably damaging Het
Dock6 G T 9: 21,757,050 (GRCm39) probably benign Het
Dynlrb1 T A 2: 155,091,865 (GRCm39) I99N probably damaging Het
Ebf4 G A 2: 130,148,419 (GRCm39) D77N probably damaging Het
Fbxw10 C T 11: 62,758,339 (GRCm39) probably benign Het
Gm10801 T C 2: 98,494,197 (GRCm39) I113T probably damaging Het
Gm5499 T C 17: 87,386,314 (GRCm39) noncoding transcript Het
Gm9913 A G 2: 125,348,459 (GRCm39) probably benign Het
Herc2 A G 7: 55,786,991 (GRCm39) N1612S probably benign Het
Ifnar2 T C 16: 91,182,889 (GRCm39) S53P possibly damaging Het
Inpp5j T A 11: 3,453,124 (GRCm39) probably null Het
Insyn2a A G 7: 134,519,750 (GRCm39) I260T probably benign Het
Iqca1l G C 5: 24,751,664 (GRCm39) T528S probably benign Het
Kif14 T G 1: 136,447,383 (GRCm39) I1396S possibly damaging Het
Med28 A G 5: 45,679,820 (GRCm39) T68A possibly damaging Het
Meis1 A T 11: 18,961,254 (GRCm39) N206K probably benign Het
Mfsd14a T C 3: 116,441,566 (GRCm39) probably benign Het
Mnt G C 11: 74,733,936 (GRCm39) probably benign Het
Mto1 A G 9: 78,365,310 (GRCm39) Y413C probably damaging Het
Myo7b T C 18: 32,100,237 (GRCm39) D1599G probably benign Het
Myoz1 T C 14: 20,703,685 (GRCm39) probably benign Het
Nhsl2 C T X: 101,121,201 (GRCm39) R62W probably damaging Het
Npr2 T A 4: 43,640,182 (GRCm39) Y306N probably damaging Het
Nrxn3 T G 12: 89,227,186 (GRCm39) C274G probably damaging Het
Or1e29 G A 11: 73,667,466 (GRCm39) P229L possibly damaging Het
Or5ac22 A T 16: 59,135,089 (GRCm39) M227K probably benign Het
Phldb2 T C 16: 45,645,373 (GRCm39) T403A probably benign Het
Plaa T C 4: 94,458,042 (GRCm39) I643V probably benign Het
Slc28a2b T C 2: 122,344,895 (GRCm39) L167P possibly damaging Het
Stau1 T C 2: 166,796,936 (GRCm39) I154V possibly damaging Het
Ugcg T G 4: 59,213,922 (GRCm39) V168G probably damaging Het
Vmn2r2 T C 3: 64,042,053 (GRCm39) I221V probably benign Het
Wdr93 T C 7: 79,402,241 (GRCm39) I180T possibly damaging Het
Whamm G C 7: 81,221,532 (GRCm39) G155R probably damaging Het
Wnt5a T A 14: 28,235,140 (GRCm39) Y41* probably null Het
Other mutations in Abca12
AlleleSourceChrCoordTypePredicted EffectPPH 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
IGL01608:Abca12 APN 1 71,298,601 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- ATTGACACTGTCTTGCAATGAC -3'
(R):5'- CGCTACATTTATTCCAGGGTCACAG -3'

Sequencing Primer
(F):5'- TGCAATGACAAAAATTACTCACCATG -3'
(R):5'- TTATTCCAGGGTCACAGAAGAGTC -3'
Posted On 2015-02-05