Incidental Mutation 'IGL01982:Abca12'
ID182759
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Abca12
Ensembl Gene ENSMUSG00000050296
Gene NameATP-binding cassette, sub-family A (ABC1), member 12
Synonyms4833417A11Rik, 4832428G11Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01982
Quality Score
Status
Chromosome1
Chromosomal Location71242276-71414910 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 71346698 bp
ZygosityHeterozygous
Amino Acid Change Serine to Alanine at position 254 (S254A)
Ref Sequence ENSEMBL: ENSMUSP00000084523 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087268]
Predicted Effect probably benign
Transcript: ENSMUST00000087268
AA Change: S254A

PolyPhen 2 Score 0.340 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000084523
Gene: ENSMUSG00000050296
AA Change: S254A

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
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921501E09Rik T G 17: 33,066,315 E504D probably benign Het
Abca7 T G 10: 80,002,641 L583R probably damaging Het
Acp1 A T 12: 30,911,492 L14H possibly damaging Het
Adar A G 3: 89,738,090 I3V probably benign Het
Adh4 C T 3: 138,429,027 probably benign Het
Aldh1l1 A G 6: 90,559,863 I103V probably benign Het
Asic3 C A 5: 24,417,721 T523N probably benign Het
Aspm T C 1: 139,491,588 V1732A probably benign Het
Atad3a C T 4: 155,753,927 R211Q possibly damaging Het
Bahcc1 A G 11: 120,287,473 Y2286C probably damaging Het
BC034090 T C 1: 155,223,332 E569G probably damaging Het
Bpifb3 A G 2: 153,925,601 N237S probably benign Het
Bysl C A 17: 47,611,071 probably null Het
C2cd6 T C 1: 59,067,773 probably benign Het
Ccdc141 A G 2: 77,030,659 F925L probably damaging Het
Cdca2 A T 14: 67,677,719 V697E probably damaging Het
Cers1 A G 8: 70,323,431 D324G probably damaging Het
Ctsq C T 13: 61,039,521 C11Y probably benign Het
Ctsq T A 13: 61,038,918 I91F probably benign Het
Cyp11b1 T C 15: 74,839,403 N142S possibly damaging Het
Cyp3a59 G T 5: 146,104,735 S363I probably benign Het
Eps15l1 A T 8: 72,379,075 D567E probably benign Het
Esf1 G A 2: 140,164,528 A233V probably benign Het
Fras1 A T 5: 96,739,248 I2630F possibly damaging Het
Fyb A T 15: 6,580,177 E77V probably null Het
Gjb6 C A 14: 57,124,573 W77L probably damaging Het
Gm21983 A G 7: 27,180,278 V88A possibly damaging Het
Gm8247 A G 14: 44,585,631 T52A probably damaging Het
Gpr108 T C 17: 57,237,877 K329E probably damaging Het
Gpr141 T A 13: 19,751,738 H289L probably benign Het
Ilvbl T C 10: 78,579,022 Y240H probably damaging Het
Kntc1 G A 5: 123,809,096 A1868T probably benign Het
Lrmda A C 14: 22,584,482 N112T probably damaging Het
Ly75 T C 2: 60,311,764 Y1334C probably damaging Het
Macc1 C A 12: 119,445,634 P46T probably benign Het
Madd A T 2: 91,175,707 F381Y probably damaging Het
Map3k20 C T 2: 72,298,333 Q38* probably null Het
Mcm4 A T 16: 15,630,420 D424E possibly damaging Het
Micu1 T A 10: 59,863,278 M463K possibly damaging Het
Mkrn2os A G 6: 115,585,531 L157P probably damaging Het
Nectin2 A G 7: 19,717,562 S516P probably damaging Het
Nme5 T A 18: 34,569,875 D120V probably damaging Het
Npy4r T C 14: 34,147,325 N2S possibly damaging Het
Nup107 A T 10: 117,759,340 probably benign Het
Omd T C 13: 49,589,497 Y8H possibly damaging Het
Ppp1r15a T C 7: 45,524,379 probably benign Het
Ppp2ca T C 11: 52,099,064 F6L probably benign Het
Rab1a T C 11: 20,224,717 S97P probably benign Het
Ranbp3l G A 15: 9,058,746 G359R probably damaging Het
Rnf213 A T 11: 119,443,268 H3101L probably damaging Het
Slc27a4 T C 2: 29,812,615 F509S probably damaging Het
Slco4a1 T C 2: 180,473,153 V623A probably benign Het
Spg20 T A 3: 55,128,490 probably null Het
Sptan1 A G 2: 30,019,968 D1780G probably damaging Het
Tgm7 G T 2: 121,093,625 Y605* probably null Het
Tmem106b T C 6: 13,071,969 probably benign Het
Trak2 G A 1: 58,926,655 A120V possibly damaging Het
Trappc8 G A 18: 20,874,712 probably benign Het
Trim66 T C 7: 109,458,763 T973A probably benign Het
Ttyh3 C A 5: 140,636,074 probably benign Het
Ugt2b37 A C 5: 87,242,432 I385S probably damaging Het
Usf3 A G 16: 44,218,817 N1220S possibly damaging Het
Utrn A T 10: 12,748,029 I155N probably damaging Het
Vps13b C T 15: 35,438,904 Q377* probably null Het
Washc2 A T 6: 116,236,189 E570D probably benign Het
Wscd1 T C 11: 71,766,873 V168A possibly damaging Het
Zfp386 T A 12: 116,059,168 C169S probably benign Het
Other mutations in Abca12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Abca12 APN 1 71303541 missense possibly damaging 0.64
IGL00556:Abca12 APN 1 71353757 missense probably benign 0.00
IGL00813:Abca12 APN 1 71353762 critical splice acceptor site probably null
IGL00835:Abca12 APN 1 71302733 missense probably damaging 1.00
IGL00921:Abca12 APN 1 71285729 missense probably damaging 1.00
IGL01011:Abca12 APN 1 71263632 missense probably benign 0.02
IGL01066:Abca12 APN 1 71353730 missense possibly damaging 0.95
IGL01082:Abca12 APN 1 71314114 missense probably damaging 1.00
IGL01310:Abca12 APN 1 71284156 missense probably benign 0.00
IGL01360:Abca12 APN 1 71286489 missense possibly damaging 0.95
IGL01585:Abca12 APN 1 71319886 missense probably benign 0.00
IGL01608:Abca12 APN 1 71259442 missense probably damaging 1.00
IGL01687:Abca12 APN 1 71267610 splice site probably benign
IGL01700:Abca12 APN 1 71280390 missense probably benign
IGL01723:Abca12 APN 1 71314168 missense probably benign 0.01
IGL01804:Abca12 APN 1 71276183 missense probably benign 0.01
IGL02136:Abca12 APN 1 71247142 missense probably damaging 1.00
IGL02172:Abca12 APN 1 71302658 missense probably benign 0.09
IGL02222:Abca12 APN 1 71282886 missense probably benign 0.40
IGL02266:Abca12 APN 1 71268201 nonsense probably null
IGL02449:Abca12 APN 1 71401749 splice site probably null
IGL02471:Abca12 APN 1 71258198 missense probably benign 0.00
IGL02496:Abca12 APN 1 71288553 missense possibly damaging 0.55
IGL02552:Abca12 APN 1 71294747 missense probably damaging 0.96
IGL02795:Abca12 APN 1 71288748 missense probably damaging 1.00
IGL03000:Abca12 APN 1 71321800 missense probably benign 0.01
IGL03031:Abca12 APN 1 71314024 missense probably benign 0.00
IGL03131:Abca12 APN 1 71346702 missense probably benign
IGL03260:Abca12 APN 1 71284099 missense probably damaging 1.00
IGL03324:Abca12 APN 1 71314008 missense probably benign
IGL03408:Abca12 APN 1 71264795 missense probably damaging 1.00
R0016:Abca12 UTSW 1 71294800 missense probably benign 0.35
R0016:Abca12 UTSW 1 71294800 missense probably benign 0.35
R0121:Abca12 UTSW 1 71259786 splice site probably null
R0172:Abca12 UTSW 1 71279402 missense probably damaging 0.99
R0196:Abca12 UTSW 1 71259813 missense possibly damaging 0.81
R0400:Abca12 UTSW 1 71259776 splice site probably benign
R0466:Abca12 UTSW 1 71302663 missense probably damaging 1.00
R0616:Abca12 UTSW 1 71302671 missense probably damaging 1.00
R0668:Abca12 UTSW 1 71263614 missense probably damaging 1.00
R0928:Abca12 UTSW 1 71349174 missense probably benign 0.06
R1036:Abca12 UTSW 1 71263410 critical splice donor site probably null
R1086:Abca12 UTSW 1 71295061 splice site probably benign
R1300:Abca12 UTSW 1 71244808 missense probably damaging 1.00
R1337:Abca12 UTSW 1 71294819 missense probably benign 0.03
R1356:Abca12 UTSW 1 71302953 splice site probably benign
R1372:Abca12 UTSW 1 71294857 missense probably damaging 1.00
R1434:Abca12 UTSW 1 71309800 missense probably benign 0.00
R1580:Abca12 UTSW 1 71265965 missense possibly damaging 0.65
R1675:Abca12 UTSW 1 71263411 critical splice donor site probably null
R1773:Abca12 UTSW 1 71288596 missense probably damaging 1.00
R1829:Abca12 UTSW 1 71295029 missense probably benign 0.26
R1922:Abca12 UTSW 1 71319924 missense probably benign 0.10
R1927:Abca12 UTSW 1 71244840 missense probably damaging 1.00
R2115:Abca12 UTSW 1 71244771 missense probably benign 0.01
R2146:Abca12 UTSW 1 71263488 missense probably benign 0.02
R2148:Abca12 UTSW 1 71263488 missense probably benign 0.02
R2149:Abca12 UTSW 1 71263488 missense probably benign 0.02
R2150:Abca12 UTSW 1 71263488 missense probably benign 0.02
R2299:Abca12 UTSW 1 71258222 missense probably damaging 1.00
R2392:Abca12 UTSW 1 71258105 missense probably damaging 1.00
R2571:Abca12 UTSW 1 71249885 missense probably benign 0.00
R3077:Abca12 UTSW 1 71267605 missense probably benign 0.02
R3078:Abca12 UTSW 1 71267605 missense probably benign 0.02
R3705:Abca12 UTSW 1 71285705 missense probably damaging 1.00
R3800:Abca12 UTSW 1 71265887 missense probably damaging 1.00
R3905:Abca12 UTSW 1 71268230 missense possibly damaging 0.79
R3905:Abca12 UTSW 1 71279457 missense probably benign 0.02
R3962:Abca12 UTSW 1 71274515 splice site probably null
R4082:Abca12 UTSW 1 71267463 missense possibly damaging 0.64
R4131:Abca12 UTSW 1 71319871 critical splice donor site probably null
R4214:Abca12 UTSW 1 71288697 missense probably damaging 0.99
R4403:Abca12 UTSW 1 71267436 missense probably damaging 1.00
R4524:Abca12 UTSW 1 71302917 missense probably benign 0.19
R4615:Abca12 UTSW 1 71330334 missense probably benign
R4617:Abca12 UTSW 1 71330334 missense probably benign
R4714:Abca12 UTSW 1 71321450 missense probably benign 0.00
R4809:Abca12 UTSW 1 71278856 missense probably benign 0.10
R4810:Abca12 UTSW 1 71303612 missense probably benign 0.00
R4825:Abca12 UTSW 1 71302685 missense possibly damaging 0.70
R4990:Abca12 UTSW 1 71294939 missense possibly damaging 0.61
R5013:Abca12 UTSW 1 71264767 missense probably damaging 0.99
R5026:Abca12 UTSW 1 71317224 missense probably benign 0.04
R5064:Abca12 UTSW 1 71300960 missense probably damaging 1.00
R5188:Abca12 UTSW 1 71291492 missense probably benign 0.23
R5234:Abca12 UTSW 1 71263664 missense probably damaging 0.99
R5267:Abca12 UTSW 1 71335774 splice site probably benign
R5302:Abca12 UTSW 1 71283952 missense possibly damaging 0.91
R5441:Abca12 UTSW 1 71295056 missense probably damaging 1.00
R5451:Abca12 UTSW 1 71294917 missense possibly damaging 0.94
R5526:Abca12 UTSW 1 71292446 missense probably benign 0.29
R5529:Abca12 UTSW 1 71264881 missense probably damaging 1.00
R5615:Abca12 UTSW 1 71307059 missense probably damaging 1.00
R5649:Abca12 UTSW 1 71291342 missense probably damaging 1.00
R5800:Abca12 UTSW 1 71321432 missense possibly damaging 0.78
R5807:Abca12 UTSW 1 71303492 missense probably damaging 1.00
R5878:Abca12 UTSW 1 71346633 missense possibly damaging 0.79
R5987:Abca12 UTSW 1 71258098 missense probably damaging 1.00
R6280:Abca12 UTSW 1 71272460 missense probably benign 0.04
R6316:Abca12 UTSW 1 71313959 missense probably benign 0.01
R6337:Abca12 UTSW 1 71295013 missense probably damaging 1.00
R6383:Abca12 UTSW 1 71247184 missense probably benign 0.03
R6564:Abca12 UTSW 1 71309850 missense possibly damaging 0.57
R6582:Abca12 UTSW 1 71258225 missense probably benign 0.00
R6756:Abca12 UTSW 1 71259353 splice site probably null
R6876:Abca12 UTSW 1 71263508 missense probably damaging 0.98
R6999:Abca12 UTSW 1 71317162 nonsense probably null
R7145:Abca12 UTSW 1 71307053 missense possibly damaging 0.92
R7272:Abca12 UTSW 1 71248432 missense probably damaging 0.99
R7285:Abca12 UTSW 1 71349155 nonsense probably null
X0013:Abca12 UTSW 1 71248433 missense probably damaging 0.99
X0018:Abca12 UTSW 1 71314510 missense probably benign
X0063:Abca12 UTSW 1 71349064 missense probably benign 0.15
X0065:Abca12 UTSW 1 71341461 critical splice donor site probably null
Posted On2014-05-07