Incidental Mutation 'R0121:Abca12'
ID 21016
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 038406-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0121 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 71282249-71454069 bp(-) (GRCm39)
Type of Mutation splice site (3 bp from exon)
DNA Base Change (assembly) T to C at 71298945 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000084523 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087268]
AlphaFold E9Q876
Predicted Effect probably null
Transcript: ENSMUST00000087268
SMART Domains Protein: ENSMUSP00000084523
Gene: ENSMUSG00000050296

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 0.9755 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.5%
  • 20x: 89.8%
Validation Efficiency 100% (63/63)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgra3 T C 5: 50,183,128 (GRCm39) probably benign Het
Anxa7 A T 14: 20,510,227 (GRCm39) L386M probably damaging Het
Ap2b1 A G 11: 83,212,793 (GRCm39) M58V possibly damaging Het
Arfip2 A G 7: 105,285,578 (GRCm39) L224P probably damaging Het
Arhgap20 A G 9: 51,750,251 (GRCm39) N373S possibly damaging Het
Asph T C 4: 9,635,918 (GRCm39) D73G probably damaging Het
Atp1a2 T A 1: 172,116,909 (GRCm39) E236V probably damaging Het
Atp2a1 A G 7: 126,057,116 (GRCm39) S170P probably damaging Het
Atp4a C G 7: 30,419,526 (GRCm39) R659G probably benign Het
B4galnt3 C T 6: 120,191,999 (GRCm39) R578H probably benign Het
Ccdc178 C A 18: 21,978,081 (GRCm39) probably null Het
Ccnh T A 13: 85,354,312 (GRCm39) M252K probably damaging Het
Clec4b2 A G 6: 123,181,131 (GRCm39) D172G probably benign Het
Col1a1 A G 11: 94,828,895 (GRCm39) E79G unknown Het
Csf3r A G 4: 125,923,642 (GRCm39) N51D probably benign Het
Cul7 C T 17: 46,974,299 (GRCm39) L1489F probably damaging Het
Cyp2b13 G A 7: 25,786,010 (GRCm39) C309Y probably benign Het
Dync2h1 A T 9: 7,001,327 (GRCm39) probably benign Het
Edn1 A G 13: 42,458,741 (GRCm39) T135A probably benign Het
Ephb2 A G 4: 136,498,368 (GRCm39) I237T probably damaging Het
Fam111a T A 19: 12,561,444 (GRCm39) F12L probably benign Het
Foxi2 C A 7: 135,013,640 (GRCm39) A290E probably benign Het
Gabra6 A G 11: 42,205,798 (GRCm39) S353P probably benign Het
Gm4847 T C 1: 166,469,857 (GRCm39) D72G probably damaging Het
Grhl3 A G 4: 135,279,860 (GRCm39) I398T probably damaging Het
Gtdc1 T C 2: 44,455,550 (GRCm39) probably benign Het
Kel A C 6: 41,678,998 (GRCm39) probably benign Het
L3mbtl3 C T 10: 26,189,768 (GRCm39) D499N unknown Het
Lama1 T A 17: 68,105,508 (GRCm39) probably benign Het
Mamdc2 T A 19: 23,288,223 (GRCm39) E605V probably benign Het
Nolc1 G A 19: 46,069,817 (GRCm39) probably benign Het
Nudt12 A T 17: 59,314,634 (GRCm39) S317T possibly damaging Het
Optn C T 2: 5,028,926 (GRCm39) G526R probably damaging Het
Or4k35 A T 2: 111,100,659 (GRCm39) C18S probably benign Het
Or5w20 A G 2: 87,727,434 (GRCm39) K297R possibly damaging Het
Or8g23 T A 9: 38,971,056 (GRCm39) K302M probably damaging Het
Or8k38 A G 2: 86,488,163 (GRCm39) V213A probably benign Het
Pbld1 C T 10: 62,907,282 (GRCm39) probably benign Het
Prl8a9 T G 13: 27,744,589 (GRCm39) N84T probably benign Het
Psph T A 5: 129,868,633 (GRCm39) probably benign Het
Sbf2 A G 7: 110,088,426 (GRCm39) probably null Het
Senp6 A G 9: 80,023,952 (GRCm39) D405G probably benign Het
Serpinb1a T A 13: 33,032,754 (GRCm39) probably benign Het
Slc2a9 T C 5: 38,556,086 (GRCm39) I287V probably benign Het
Sptbn2 T C 19: 4,795,321 (GRCm39) F1593S probably damaging Het
Tcf21 T C 10: 22,695,706 (GRCm39) T33A probably benign Het
Tdrd3 A T 14: 87,776,915 (GRCm39) Q727L probably damaging Het
Tecpr1 C T 5: 144,147,017 (GRCm39) E450K probably benign Het
Tenm3 G A 8: 48,795,694 (GRCm39) T532I probably damaging Het
Tg A T 15: 66,612,630 (GRCm39) Q396L probably benign Het
Tmtc3 A G 10: 100,294,770 (GRCm39) probably benign Het
Twnk T C 19: 44,997,704 (GRCm39) probably benign Het
Ubac1 A G 2: 25,898,871 (GRCm39) probably null Het
Ubn2 T C 6: 38,429,793 (GRCm39) probably benign Het
Zfp944 T A 17: 22,558,249 (GRCm39) T333S possibly 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
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
Predicted Primers PCR Primer
(F):5'- TCCCAGGGATCTAAATGGGGAAGAC -3'
(R):5'- TCTTACCAAATGCCAGCAGAGCAG -3'

Sequencing Primer
(F):5'- GACGTTCTAAAAACAGGTCTCTAAG -3'
(R):5'- CGGAGCAGGGAAAACCACTATAT -3'
Posted On 2013-04-11