Incidental Mutation 'R5529:Abca12'
ID 501082
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 043087-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5529 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 71282249-71454069 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 71304040 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 2079 (Y2079C)
Ref Sequence ENSEMBL: ENSMUSP00000084523 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087268]
AlphaFold E9Q876
Predicted Effect probably damaging
Transcript: ENSMUST00000087268
AA Change: Y2079C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000084523
Gene: ENSMUSG00000050296
AA Change: Y2079C

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
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.5%
  • 10x: 95.7%
  • 20x: 92.5%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg2 T C 4: 47,472,101 (GRCm39) R236G probably damaging Het
Alpl T A 4: 137,473,733 (GRCm39) N323I probably damaging Het
Anxa3 A G 5: 96,976,238 (GRCm39) E172G probably benign Het
Atp8a2 A G 14: 60,031,314 (GRCm39) probably null Het
Cadps T C 14: 12,454,285 (GRCm38) K1078E probably damaging Het
Ccn5 T C 2: 163,667,279 (GRCm39) probably null Het
Ces2e G T 8: 105,656,543 (GRCm39) V258L probably benign Het
Daam2 A G 17: 49,766,085 (GRCm39) F1041S probably benign Het
Dcstamp A G 15: 39,617,932 (GRCm39) I114V probably benign Het
Ddhd2 C T 8: 26,229,587 (GRCm39) R496Q probably benign Het
Dnhd1 G A 7: 105,352,416 (GRCm39) R2523Q probably damaging Het
Eml6 T A 11: 29,714,126 (GRCm39) R1335S probably benign Het
F12 T C 13: 55,569,872 (GRCm39) N102S probably benign Het
Fbn1 G A 2: 125,215,870 (GRCm39) L712F probably benign Het
Fgf1 G T 18: 38,991,657 (GRCm39) F37L probably damaging Het
Fgf14 T A 14: 124,217,867 (GRCm39) H212L probably damaging Het
Gm10036 A T 18: 15,965,858 (GRCm39) Q3L probably benign Het
Hivep1 T C 13: 42,310,126 (GRCm39) F789L possibly damaging Het
Hspg2 C A 4: 137,279,139 (GRCm39) T3074N probably damaging Het
Katnb1 C T 8: 95,824,300 (GRCm39) R495C probably damaging Het
Kdm5b C T 1: 134,515,741 (GRCm39) H122Y probably damaging Het
Ky C T 9: 102,419,274 (GRCm39) S427L probably benign Het
Med9 T G 11: 59,851,486 (GRCm39) V105G probably benign Het
Ndufa11 T A 17: 57,028,059 (GRCm39) V43D probably damaging Het
Nlrp4b T A 7: 10,448,873 (GRCm39) C359S possibly damaging Het
Or12k8 T A 2: 36,974,921 (GRCm39) I280F possibly damaging Het
Or51e1 A T 7: 102,358,900 (GRCm39) K145* probably null Het
Paxbp1 T A 16: 90,827,401 (GRCm39) Y478F possibly damaging Het
Pole G A 5: 110,480,332 (GRCm39) E92K probably benign Het
Prom1 G T 5: 44,184,110 (GRCm39) L449M probably damaging Het
Psg28 G A 7: 18,164,373 (GRCm39) T113I probably benign Het
Reln A C 5: 22,137,713 (GRCm39) V2493G possibly damaging Het
Rp1 C T 1: 4,416,055 (GRCm39) V1686I probably benign Het
Setbp1 T C 18: 79,129,867 (GRCm39) I122V probably damaging Het
Setd5 T C 6: 113,098,529 (GRCm39) Y721H probably damaging Het
Shroom1 T C 11: 53,354,749 (GRCm39) F223S probably damaging Het
Son T A 16: 91,452,354 (GRCm39) L367Q probably damaging Het
Spred2 G T 11: 19,971,301 (GRCm39) D363Y probably damaging Het
Tbc1d8 T G 1: 39,411,836 (GRCm39) Y1000S probably benign Het
Tdp2 A T 13: 25,022,219 (GRCm39) K213* probably null Het
Tmem89 T C 9: 108,744,545 (GRCm39) I146T probably damaging Het
Vhl T C 6: 113,606,424 (GRCm39) V147A probably benign Het
Vmn2r23 C T 6: 123,690,410 (GRCm39) L429F probably benign Het
Vrk2 T C 11: 26,449,036 (GRCm39) D186G probably damaging Het
Zbtb40 A G 4: 136,710,474 (GRCm39) F1222L possibly damaging Het
Zfp266 A G 9: 20,418,030 (GRCm39) S7P probably damaging Het
Zfp472 T A 17: 33,197,407 (GRCm39) I494K possibly damaging Het
Zfp655 A G 5: 145,181,546 (GRCm39) E468G probably damaging 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
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
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'- ATGGGCCACGTGAAGGTTTC -3'
(R):5'- AAAGACATCCTTTGAGGGTCTTTTG -3'

Sequencing Primer
(F):5'- TATGTAACGAATAAGACACCTTACCG -3'
(R):5'- AGGGTCTTTTGTCAAAATGAGGAATG -3'
Posted On 2017-12-01