Incidental Mutation 'IGL02794:Abca3'
ID359891
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Abca3
Ensembl Gene ENSMUSG00000024130
Gene NameATP-binding cassette, sub-family A (ABC1), member 3
SynonymsABC-C, 1810036E22Rik, Abc3
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02794
Quality Score
Status
Chromosome17
Chromosomal Location24351950-24410201 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 24402411 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Serine at position 1082 (C1082S)
Ref Sequence ENSEMBL: ENSMUSP00000113538 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039013] [ENSMUST00000079594] [ENSMUST00000117337]
Predicted Effect probably benign
Transcript: ENSMUST00000039013
AA Change: C1337S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000045285
Gene: ENSMUSG00000024130
AA Change: C1337S

DomainStartEndE-ValueType
Pfam:ABC2_membrane_3 21 469 2.1e-29 PFAM
AAA 558 740 5.17e-10 SMART
Pfam:ABC2_membrane_3 923 1323 1.8e-35 PFAM
AAA 1408 1592 1.64e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000079594
AA Change: C1337S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000078544
Gene: ENSMUSG00000024130
AA Change: C1337S

DomainStartEndE-ValueType
Pfam:ABC2_membrane_3 22 469 2.6e-28 PFAM
AAA 558 740 5.17e-10 SMART
Pfam:ABC2_membrane_3 923 1323 5.5e-39 PFAM
AAA 1408 1592 1.64e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000117337
AA Change: C1082S

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000113538
Gene: ENSMUSG00000024130
AA Change: C1082S

DomainStartEndE-ValueType
Pfam:ABC2_membrane_3 21 469 1.3e-29 PFAM
AAA 558 740 5.17e-10 SMART
Pfam:ABC2_membrane_3 761 1068 8.8e-29 PFAM
AAA 1153 1337 1.64e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133816
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148557
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181014
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, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. The full transporter encoded by this gene may be involved in development of resistance to xenobiotics and engulfment during programmed cell death. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation display neonatal lethality, respiratory failure, and severely impaired surfactant secretion. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt2 G T 7: 27,629,381 R176L probably benign Het
Aldh16a1 A G 7: 45,145,594 Y484H probably damaging Het
Apeh A G 9: 108,092,010 S280P possibly damaging Het
Atp1a4 T C 1: 172,244,086 M481V probably benign Het
Atraid G A 5: 31,052,870 S135N probably damaging Het
Camta2 C T 11: 70,675,658 G677D possibly damaging Het
Ccdc18 A G 5: 108,171,748 N545S probably benign Het
Cic A G 7: 25,285,644 D1105G probably damaging Het
Crisp1 A T 17: 40,313,066 M4K unknown Het
Crnkl1 C T 2: 145,930,612 E182K possibly damaging Het
Dnmt1 A T 9: 20,936,551 C114S probably benign Het
Dsc2 A T 18: 20,041,731 Y496N probably damaging Het
Dst T C 1: 34,270,829 V1528A probably damaging Het
Fbxl8 C T 8: 105,268,120 T88M probably benign Het
Fbxo10 T C 4: 45,041,928 N767S probably benign Het
Gm1527 A G 3: 28,895,680 T30A unknown Het
Gorasp2 C A 2: 70,679,494 Y166* probably null Het
Gucy2c T A 6: 136,713,148 Q744L probably damaging Het
Heg1 A T 16: 33,726,622 N593I probably damaging Het
Ice1 T A 13: 70,609,159 S236C possibly damaging Het
Il12b T C 11: 44,407,981 Y88H probably damaging Het
Izumo3 C T 4: 92,146,963 V6I probably benign Het
Kcna6 A G 6: 126,738,552 V458A probably damaging Het
Kif13b G A 14: 64,803,440 R1659Q probably benign Het
Klk1b1 A G 7: 43,970,365 D116G possibly damaging Het
Lama2 T C 10: 27,041,231 T2233A possibly damaging Het
Lin9 A T 1: 180,651,879 K59N probably damaging Het
Ltbp2 T C 12: 84,791,935 E1083G probably damaging Het
Mfsd11 T A 11: 116,859,351 S105T probably damaging Het
Mga T A 2: 119,946,289 I1768N possibly damaging Het
Mical3 C A 6: 121,007,309 G202V probably damaging Het
Mylk A T 16: 34,986,541 I1719F probably benign Het
Nusap1 T A 2: 119,630,386 F120Y possibly damaging Het
Olfr1079 T C 2: 86,538,148 T256A possibly damaging Het
Olfr671 T A 7: 104,975,389 M203L probably benign Het
Olfr923 T A 9: 38,828,215 C175S probably damaging Het
Pidd1 T C 7: 141,443,108 Y57C probably benign Het
Pik3cd T A 4: 149,654,571 M671L probably benign Het
Ppp5c A G 7: 17,006,960 V361A probably benign Het
Prune2 T C 19: 17,119,361 V743A probably benign Het
Siglec1 C A 2: 131,075,969 S996I possibly damaging Het
Slc12a7 A G 13: 73,809,087 R948G possibly damaging Het
Slc40a1 A T 1: 45,909,508 Y537* probably null Het
Smarca4 T A 9: 21,673,342 probably benign Het
Smg6 C T 11: 75,053,934 P1109S probably damaging Het
Sorl1 T A 9: 42,063,774 N513Y probably damaging Het
Trim58 C T 11: 58,640,466 probably benign Het
Trim72 T C 7: 128,004,532 C17R probably damaging Het
Ttc3 T C 16: 94,467,926 C1956R probably damaging Het
Vmn1r211 C A 13: 22,852,206 S97I probably damaging Het
Vmn1r211 T A 13: 22,852,207 S97C probably damaging Het
Vmn1r211 G T 13: 22,852,209 T96N possibly damaging Het
Vmn2r66 A T 7: 84,995,415 S596T probably benign Het
Zfp609 A G 9: 65,704,320 S454P possibly damaging Het
Other mutations in Abca3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00915:Abca3 APN 17 24374246 missense probably damaging 1.00
IGL01538:Abca3 APN 17 24376473 missense possibly damaging 0.64
IGL01633:Abca3 APN 17 24397353 nonsense probably null
IGL01837:Abca3 APN 17 24408697 missense probably damaging 1.00
IGL01986:Abca3 APN 17 24408114 missense probably damaging 1.00
IGL02049:Abca3 APN 17 24376730 nonsense probably null
IGL02186:Abca3 APN 17 24377740 missense possibly damaging 0.95
IGL02962:Abca3 APN 17 24400409 missense probably damaging 1.00
IGL02963:Abca3 APN 17 24384529 missense probably damaging 1.00
IGL03118:Abca3 APN 17 24400450 missense probably benign 0.17
IGL03144:Abca3 APN 17 24381964 missense probably benign 0.37
R0028:Abca3 UTSW 17 24377724 missense probably benign 0.39
R0278:Abca3 UTSW 17 24381920 missense probably benign 0.09
R0570:Abca3 UTSW 17 24374399 missense probably benign
R0825:Abca3 UTSW 17 24400577 missense probably damaging 1.00
R1164:Abca3 UTSW 17 24402331 missense probably damaging 1.00
R1348:Abca3 UTSW 17 24374238 splice site probably null
R1557:Abca3 UTSW 17 24399980 missense possibly damaging 0.46
R1661:Abca3 UTSW 17 24377842 missense probably damaging 0.99
R1665:Abca3 UTSW 17 24377842 missense probably damaging 0.99
R1754:Abca3 UTSW 17 24377779 missense probably benign 0.00
R1828:Abca3 UTSW 17 24366197 missense probably benign 0.34
R1834:Abca3 UTSW 17 24376692 missense probably benign 0.00
R1996:Abca3 UTSW 17 24387532 missense probably damaging 1.00
R2032:Abca3 UTSW 17 24366082 splice site probably benign
R2100:Abca3 UTSW 17 24408209 missense probably damaging 0.99
R2154:Abca3 UTSW 17 24377719 missense probably damaging 1.00
R2240:Abca3 UTSW 17 24376443 missense probably damaging 0.98
R2281:Abca3 UTSW 17 24376726 missense possibly damaging 0.88
R2994:Abca3 UTSW 17 24384564 missense probably damaging 1.00
R4091:Abca3 UTSW 17 24397482 missense probably damaging 1.00
R4294:Abca3 UTSW 17 24400569 missense possibly damaging 0.96
R4496:Abca3 UTSW 17 24383973 missense possibly damaging 0.93
R4633:Abca3 UTSW 17 24387529 missense probably null 1.00
R4866:Abca3 UTSW 17 24374300 missense probably damaging 0.97
R5022:Abca3 UTSW 17 24374300 missense probably damaging 0.97
R5023:Abca3 UTSW 17 24374300 missense probably damaging 0.97
R5072:Abca3 UTSW 17 24374300 missense probably damaging 0.97
R5073:Abca3 UTSW 17 24374300 missense probably damaging 0.97
R5074:Abca3 UTSW 17 24374300 missense probably damaging 0.97
R5123:Abca3 UTSW 17 24384460 missense possibly damaging 0.95
R5157:Abca3 UTSW 17 24408122 missense probably damaging 1.00
R5183:Abca3 UTSW 17 24374453 missense probably benign 0.39
R5269:Abca3 UTSW 17 24376743 missense possibly damaging 0.95
R5566:Abca3 UTSW 17 24383927 missense probably benign
R5579:Abca3 UTSW 17 24376729 missense probably damaging 0.97
R5620:Abca3 UTSW 17 24396470 missense probably benign 0.05
R5755:Abca3 UTSW 17 24398454 missense probably damaging 1.00
R5954:Abca3 UTSW 17 24397416 missense probably benign 0.00
R6041:Abca3 UTSW 17 24376380 missense probably damaging 0.99
R6187:Abca3 UTSW 17 24408167 missense possibly damaging 0.88
R6253:Abca3 UTSW 17 24397552 missense probably benign 0.01
R6375:Abca3 UTSW 17 24387562 missense possibly damaging 0.96
R6487:Abca3 UTSW 17 24397472 missense possibly damaging 0.81
R6616:Abca3 UTSW 17 24384535 missense probably damaging 1.00
R6632:Abca3 UTSW 17 24384470 missense probably benign
R6781:Abca3 UTSW 17 24374406 missense possibly damaging 0.95
R6918:Abca3 UTSW 17 24408658 missense probably damaging 1.00
R6962:Abca3 UTSW 17 24364726 missense probably benign 0.39
R7163:Abca3 UTSW 17 24364942 missense probably benign
R7199:Abca3 UTSW 17 24377707 missense probably damaging 1.00
R7287:Abca3 UTSW 17 24385887 missense possibly damaging 0.91
R7303:Abca3 UTSW 17 24398521 missense possibly damaging 0.83
R7338:Abca3 UTSW 17 24376743 missense possibly damaging 0.95
X0018:Abca3 UTSW 17 24396480 missense possibly damaging 0.63
Posted On2015-12-18