Incidental Mutation 'R1557:Abca3'
ID 170381
Institutional Source Beutler Lab
Gene Symbol Abca3
Ensembl Gene ENSMUSG00000024130
Gene Name ATP-binding cassette, sub-family A member 3
Synonyms Abc3, 1810036E22Rik, ABC-C
MMRRC Submission 039596-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1557 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 24570997-24629178 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 24618954 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 870 (V870A)
Ref Sequence ENSEMBL: ENSMUSP00000113538 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039013] [ENSMUST00000079594] [ENSMUST00000117337]
AlphaFold Q8R420
Predicted Effect probably benign
Transcript: ENSMUST00000039013
AA Change: V1125A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000045285
Gene: ENSMUSG00000024130
AA Change: V1125A

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: V1125A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000078544
Gene: ENSMUSG00000024130
AA Change: V1125A

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 possibly damaging
Transcript: ENSMUST00000117337
AA Change: V870A

PolyPhen 2 Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000113538
Gene: ENSMUSG00000024130
AA Change: V870A

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
Meta Mutation Damage Score 0.0618 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.1%
Validation Efficiency 96% (75/78)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019A02Rik A C 1: 53,221,025 (GRCm39) D68E possibly damaging Het
Aldh3a2 A T 11: 61,139,885 (GRCm39) F416I probably damaging Het
Armc6 A T 8: 70,678,098 (GRCm39) L77Q possibly damaging Het
Asb17 A G 3: 153,556,570 (GRCm39) I226V probably benign Het
Aspm A G 1: 139,396,406 (GRCm39) I862V probably benign Het
Atr T A 9: 95,753,502 (GRCm39) D701E probably damaging Het
Baz1b C T 5: 135,247,097 (GRCm39) L849F possibly damaging Het
Cbr1 T C 16: 93,405,677 (GRCm39) V97A probably benign Het
Cep295 G A 9: 15,243,306 (GRCm39) Q1669* probably null Het
Cfap54 T C 10: 92,820,089 (GRCm39) T1242A possibly damaging Het
Chrm3 T A 13: 9,928,350 (GRCm39) T229S possibly damaging Het
Cimip4 C A 15: 78,270,474 (GRCm39) R98M probably damaging Het
Cnga3 A G 1: 37,300,066 (GRCm39) Y300C probably damaging Het
Col14a1 A C 15: 55,251,975 (GRCm39) I544L unknown Het
Crocc T C 4: 140,752,776 (GRCm39) E1208G probably damaging Het
Cyp2j8 A T 4: 96,358,713 (GRCm39) probably benign Het
Dcbld2 T C 16: 58,285,713 (GRCm39) I624T possibly damaging Het
Ddah1 A C 3: 145,597,227 (GRCm39) I258L probably benign Het
Dnah6 G A 6: 73,026,114 (GRCm39) Q3460* probably null Het
Dync2h1 T A 9: 7,140,911 (GRCm39) D1372V probably damaging Het
Egln1 G A 8: 125,674,980 (GRCm39) R272* probably null Het
Elf1 A G 14: 79,804,620 (GRCm39) D95G possibly damaging Het
Fkbp5 A G 17: 28,621,729 (GRCm39) F374L probably damaging Het
Fli1 T C 9: 32,372,540 (GRCm39) probably benign Het
Gabbr2 T C 4: 46,846,436 (GRCm39) T158A probably damaging Het
Gp2 A C 7: 119,049,302 (GRCm39) Y412D probably damaging Het
Hmcn1 A G 1: 150,610,283 (GRCm39) V1462A possibly damaging Het
Ide T C 19: 37,258,160 (GRCm39) probably null Het
Kalrn T C 16: 34,134,648 (GRCm39) K372R possibly damaging Het
Kcnj16 A G 11: 110,916,067 (GRCm39) D243G possibly damaging Het
Kif7 A G 7: 79,363,905 (GRCm39) M1T probably null Het
Klri2 A T 6: 129,709,174 (GRCm39) L226Q probably damaging Het
Kremen1 T C 11: 5,165,373 (GRCm39) probably null Het
Lama3 T C 18: 12,646,788 (GRCm39) probably benign Het
Lmln C A 16: 32,908,581 (GRCm39) R336S probably benign Het
Lrch4 T A 5: 137,635,818 (GRCm39) D266E probably benign Het
Lrrc28 C T 7: 67,209,677 (GRCm39) R174H probably damaging Het
Mib1 T A 18: 10,798,474 (GRCm39) D778E probably damaging Het
Msra T C 14: 64,360,775 (GRCm39) I125V possibly damaging Het
Or10c1 A G 17: 37,522,244 (GRCm39) F167L probably damaging Het
Or4k37 T A 2: 111,158,964 (GRCm39) S67T probably damaging Het
Or4p19 A T 2: 88,242,555 (GRCm39) V149E possibly damaging Het
Or52e18 A G 7: 104,609,747 (GRCm39) F64S probably damaging Het
Or6c75 C A 10: 129,337,491 (GRCm39) T246N probably damaging Het
Or8d23 A G 9: 38,841,955 (GRCm39) M163V possibly damaging Het
Pes1 T A 11: 3,926,824 (GRCm39) Y369N probably damaging Het
Pgam2 T C 11: 5,751,773 (GRCm39) D221G possibly damaging Het
Prl2c5 T C 13: 13,365,265 (GRCm39) V137A possibly damaging Het
Rasal1 T A 5: 120,814,914 (GRCm39) D721E possibly damaging Het
Sass6 G T 3: 116,412,381 (GRCm39) E385D possibly damaging Het
Sema5a A G 15: 32,460,418 (GRCm39) R60G probably benign Het
Sesn1 T C 10: 41,779,762 (GRCm39) S399P probably damaging Het
Skic2 G A 17: 35,067,398 (GRCm39) L47F probably damaging Het
Slc10a2 C T 8: 5,141,755 (GRCm39) V210M probably damaging Het
Slc8a3 C T 12: 81,362,331 (GRCm39) G163S probably damaging Het
Sorbs2 T C 8: 46,212,234 (GRCm39) probably benign Het
Speer4f1 T C 5: 17,684,490 (GRCm39) W173R probably damaging Het
Spon2 C A 5: 33,374,108 (GRCm39) G92W probably damaging Het
Sycp2 A T 2: 178,037,009 (GRCm39) probably benign Het
Tfb1m A G 17: 3,605,241 (GRCm39) V84A probably damaging Het
Tmem18 G T 12: 30,637,198 (GRCm39) probably null Het
Tom1l1 A G 11: 90,547,210 (GRCm39) L290S possibly damaging Het
Tube1 T G 10: 39,021,711 (GRCm39) probably null Het
Ugt2b35 T A 5: 87,155,156 (GRCm39) probably null Het
Unc93b1 T A 19: 3,992,403 (GRCm39) Y269N probably benign Het
Usp16 T C 16: 87,259,030 (GRCm39) probably null Het
Vmn1r38 A T 6: 66,753,370 (GRCm39) S249T probably benign Het
Vmn1r42 T A 6: 89,821,733 (GRCm39) M279L possibly damaging Het
Zdhhc23 T A 16: 43,791,829 (GRCm39) T315S possibly damaging Het
Zfp472 T C 17: 33,194,900 (GRCm39) F12L probably benign Het
Zfr2 T C 10: 81,083,225 (GRCm39) S634P probably benign Het
Other mutations in Abca3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00915:Abca3 APN 17 24,593,220 (GRCm39) missense probably damaging 1.00
IGL01538:Abca3 APN 17 24,595,447 (GRCm39) missense possibly damaging 0.64
IGL01633:Abca3 APN 17 24,616,327 (GRCm39) nonsense probably null
IGL01837:Abca3 APN 17 24,627,671 (GRCm39) missense probably damaging 1.00
IGL01986:Abca3 APN 17 24,627,088 (GRCm39) missense probably damaging 1.00
IGL02049:Abca3 APN 17 24,595,704 (GRCm39) nonsense probably null
IGL02186:Abca3 APN 17 24,596,714 (GRCm39) missense possibly damaging 0.95
IGL02794:Abca3 APN 17 24,621,385 (GRCm39) missense probably benign 0.05
IGL02962:Abca3 APN 17 24,619,383 (GRCm39) missense probably damaging 1.00
IGL02963:Abca3 APN 17 24,603,503 (GRCm39) missense probably damaging 1.00
IGL03118:Abca3 APN 17 24,619,424 (GRCm39) missense probably benign 0.17
IGL03144:Abca3 APN 17 24,600,938 (GRCm39) missense probably benign 0.37
R0028:Abca3 UTSW 17 24,596,698 (GRCm39) missense probably benign 0.39
R0278:Abca3 UTSW 17 24,600,894 (GRCm39) missense probably benign 0.09
R0570:Abca3 UTSW 17 24,593,373 (GRCm39) missense probably benign
R0825:Abca3 UTSW 17 24,619,551 (GRCm39) missense probably damaging 1.00
R1164:Abca3 UTSW 17 24,621,305 (GRCm39) missense probably damaging 1.00
R1348:Abca3 UTSW 17 24,593,212 (GRCm39) splice site probably null
R1661:Abca3 UTSW 17 24,596,816 (GRCm39) missense probably damaging 0.99
R1665:Abca3 UTSW 17 24,596,816 (GRCm39) missense probably damaging 0.99
R1754:Abca3 UTSW 17 24,596,753 (GRCm39) missense probably benign 0.00
R1828:Abca3 UTSW 17 24,585,171 (GRCm39) missense probably benign 0.34
R1834:Abca3 UTSW 17 24,595,666 (GRCm39) missense probably benign 0.00
R1996:Abca3 UTSW 17 24,606,506 (GRCm39) missense probably damaging 1.00
R2032:Abca3 UTSW 17 24,585,056 (GRCm39) splice site probably benign
R2100:Abca3 UTSW 17 24,627,183 (GRCm39) missense probably damaging 0.99
R2154:Abca3 UTSW 17 24,596,693 (GRCm39) missense probably damaging 1.00
R2240:Abca3 UTSW 17 24,595,417 (GRCm39) missense probably damaging 0.98
R2281:Abca3 UTSW 17 24,595,700 (GRCm39) missense possibly damaging 0.88
R2994:Abca3 UTSW 17 24,603,538 (GRCm39) missense probably damaging 1.00
R4091:Abca3 UTSW 17 24,616,456 (GRCm39) missense probably damaging 1.00
R4294:Abca3 UTSW 17 24,619,543 (GRCm39) missense possibly damaging 0.96
R4496:Abca3 UTSW 17 24,602,947 (GRCm39) missense possibly damaging 0.93
R4633:Abca3 UTSW 17 24,606,503 (GRCm39) missense probably null 1.00
R4866:Abca3 UTSW 17 24,593,274 (GRCm39) missense probably damaging 0.97
R5022:Abca3 UTSW 17 24,593,274 (GRCm39) missense probably damaging 0.97
R5023:Abca3 UTSW 17 24,593,274 (GRCm39) missense probably damaging 0.97
R5072:Abca3 UTSW 17 24,593,274 (GRCm39) missense probably damaging 0.97
R5073:Abca3 UTSW 17 24,593,274 (GRCm39) missense probably damaging 0.97
R5074:Abca3 UTSW 17 24,593,274 (GRCm39) missense probably damaging 0.97
R5123:Abca3 UTSW 17 24,603,434 (GRCm39) missense possibly damaging 0.95
R5157:Abca3 UTSW 17 24,627,096 (GRCm39) missense probably damaging 1.00
R5183:Abca3 UTSW 17 24,593,427 (GRCm39) missense probably benign 0.39
R5269:Abca3 UTSW 17 24,595,717 (GRCm39) missense possibly damaging 0.95
R5566:Abca3 UTSW 17 24,602,901 (GRCm39) missense probably benign
R5579:Abca3 UTSW 17 24,595,703 (GRCm39) missense probably damaging 0.97
R5620:Abca3 UTSW 17 24,615,444 (GRCm39) missense probably benign 0.05
R5755:Abca3 UTSW 17 24,617,428 (GRCm39) missense probably damaging 1.00
R5954:Abca3 UTSW 17 24,616,390 (GRCm39) missense probably benign 0.00
R6041:Abca3 UTSW 17 24,595,354 (GRCm39) missense probably damaging 0.99
R6187:Abca3 UTSW 17 24,627,141 (GRCm39) missense possibly damaging 0.88
R6253:Abca3 UTSW 17 24,616,526 (GRCm39) missense probably benign 0.01
R6375:Abca3 UTSW 17 24,606,536 (GRCm39) missense possibly damaging 0.96
R6487:Abca3 UTSW 17 24,616,446 (GRCm39) missense possibly damaging 0.81
R6616:Abca3 UTSW 17 24,603,509 (GRCm39) missense probably damaging 1.00
R6632:Abca3 UTSW 17 24,603,444 (GRCm39) missense probably benign
R6781:Abca3 UTSW 17 24,593,380 (GRCm39) missense possibly damaging 0.95
R6918:Abca3 UTSW 17 24,627,632 (GRCm39) missense probably damaging 1.00
R6962:Abca3 UTSW 17 24,583,700 (GRCm39) missense probably benign 0.39
R7163:Abca3 UTSW 17 24,583,916 (GRCm39) missense probably benign
R7199:Abca3 UTSW 17 24,596,681 (GRCm39) missense probably damaging 1.00
R7287:Abca3 UTSW 17 24,604,861 (GRCm39) missense possibly damaging 0.91
R7303:Abca3 UTSW 17 24,617,495 (GRCm39) missense possibly damaging 0.83
R7338:Abca3 UTSW 17 24,595,717 (GRCm39) missense possibly damaging 0.95
R7430:Abca3 UTSW 17 24,583,932 (GRCm39) critical splice donor site probably null
R7437:Abca3 UTSW 17 24,619,472 (GRCm39) missense probably damaging 0.99
R7776:Abca3 UTSW 17 24,605,250 (GRCm39) missense possibly damaging 0.77
R7805:Abca3 UTSW 17 24,624,128 (GRCm39) critical splice donor site probably null
R7811:Abca3 UTSW 17 24,616,362 (GRCm39) missense probably benign 0.00
R7848:Abca3 UTSW 17 24,603,506 (GRCm39) missense probably damaging 1.00
R7859:Abca3 UTSW 17 24,603,500 (GRCm39) missense probably damaging 1.00
R7877:Abca3 UTSW 17 24,602,997 (GRCm39) nonsense probably null
R7893:Abca3 UTSW 17 24,604,440 (GRCm39) missense probably damaging 1.00
R7910:Abca3 UTSW 17 24,604,827 (GRCm39) missense probably benign 0.09
R7911:Abca3 UTSW 17 24,617,478 (GRCm39) missense probably damaging 1.00
R7964:Abca3 UTSW 17 24,621,410 (GRCm39) missense probably benign 0.26
R8016:Abca3 UTSW 17 24,583,926 (GRCm39) missense probably benign 0.06
R8028:Abca3 UTSW 17 24,626,671 (GRCm39) missense probably benign 0.02
R8150:Abca3 UTSW 17 24,615,522 (GRCm39) missense probably benign 0.08
R8298:Abca3 UTSW 17 24,604,375 (GRCm39) missense probably damaging 1.00
R8444:Abca3 UTSW 17 24,602,959 (GRCm39) missense probably damaging 0.98
R8505:Abca3 UTSW 17 24,593,471 (GRCm39) missense probably damaging 0.97
R8547:Abca3 UTSW 17 24,616,474 (GRCm39) missense probably benign 0.00
R8699:Abca3 UTSW 17 24,627,199 (GRCm39) missense probably benign 0.01
R8903:Abca3 UTSW 17 24,602,959 (GRCm39) missense probably damaging 0.98
R9046:Abca3 UTSW 17 24,617,477 (GRCm39) missense probably damaging 1.00
R9136:Abca3 UTSW 17 24,596,807 (GRCm39) missense probably benign 0.01
R9236:Abca3 UTSW 17 24,626,712 (GRCm39) missense probably benign 0.16
R9331:Abca3 UTSW 17 24,616,324 (GRCm39) missense probably benign 0.00
R9585:Abca3 UTSW 17 24,619,486 (GRCm39) missense probably benign 0.12
R9602:Abca3 UTSW 17 24,617,378 (GRCm39) missense probably benign 0.35
R9714:Abca3 UTSW 17 24,595,702 (GRCm39) missense probably benign 0.44
X0018:Abca3 UTSW 17 24,615,454 (GRCm39) missense possibly damaging 0.63
Z1177:Abca3 UTSW 17 24,627,210 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- GCCTAGAAGAGAATGCTGCCCTTG -3'
(R):5'- ACTAGATGGTCTTCCCTGTTGGTCC -3'

Sequencing Primer
(F):5'- CTTGTTCATGCAGGACGC -3'
(R):5'- TCACCAGAAGTAGTAGACTGGG -3'
Posted On 2014-04-13