Incidental Mutation 'R6918:Abca3'
ID 539465
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 045005-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6918 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 24570997-24629178 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 24627632 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamine at position 1359 (K1359Q)
Ref Sequence ENSEMBL: ENSMUSP00000113538 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039013] [ENSMUST00000079594] [ENSMUST00000117337]
AlphaFold Q8R420
Predicted Effect probably damaging
Transcript: ENSMUST00000039013
AA Change: K1614Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000045285
Gene: ENSMUSG00000024130
AA Change: K1614Q

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 damaging
Transcript: ENSMUST00000079594
AA Change: K1614Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078544
Gene: ENSMUSG00000024130
AA Change: K1614Q

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 damaging
Transcript: ENSMUST00000117337
AA Change: K1359Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113538
Gene: ENSMUSG00000024130
AA Change: K1359Q

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
Meta Mutation Damage Score 0.1449 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency 100% (48/48)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace T C 11: 105,863,769 (GRCm39) Y406H probably damaging Het
Acsl6 A G 11: 54,232,582 (GRCm39) probably null Het
Alms1 T A 6: 85,599,643 (GRCm39) Y1959N possibly damaging Het
Chrna7 T A 7: 62,809,299 (GRCm39) I76F probably benign Het
Cuedc1 C T 11: 88,077,899 (GRCm39) T296I probably benign Het
Ddc A G 11: 11,769,307 (GRCm39) V409A probably damaging Het
Dhx8 T A 11: 101,629,247 (GRCm39) Y212* probably null Het
Dnah6 T A 6: 73,158,738 (GRCm39) K622* probably null Het
Dscaml1 A G 9: 45,341,805 (GRCm39) H72R probably benign Het
Dyrk1b A G 7: 27,885,350 (GRCm39) D396G probably damaging Het
Gstm2 A G 3: 107,892,557 (GRCm39) probably null Het
Hsd3b1 A G 3: 98,760,425 (GRCm39) Y189H probably damaging Het
Kif1c G A 11: 70,597,813 (GRCm39) E356K probably damaging Het
Kirrel2 A C 7: 30,150,239 (GRCm39) C17G probably damaging Het
Klhl12 A G 1: 134,403,584 (GRCm39) H259R possibly damaging Het
Krt1 A G 15: 101,758,612 (GRCm39) V184A probably damaging Het
Lmod2 A T 6: 24,603,594 (GRCm39) N190Y probably benign Het
Lrp2 A C 2: 69,319,649 (GRCm39) V1958G probably damaging Het
Ly6h T C 15: 75,437,507 (GRCm39) S37G probably damaging Het
Man2a2 A T 7: 80,002,940 (GRCm39) H1056Q possibly damaging Het
Misp3 T G 8: 84,738,313 (GRCm39) M1L probably benign Het
Mixl1 T A 1: 180,522,243 (GRCm39) I213F probably benign Het
Morc3 T C 16: 93,650,023 (GRCm39) I268T probably benign Het
Mtx2 C T 2: 74,706,697 (GRCm39) T224I probably damaging Het
Or8c15 G A 9: 38,120,948 (GRCm39) V198M possibly damaging Het
Oscp1 A C 4: 125,970,571 (GRCm39) D120A possibly damaging Het
Parp1 G A 1: 180,416,235 (GRCm39) V545I possibly damaging Het
Pipox A G 11: 77,772,380 (GRCm39) I330T probably damaging Het
Pkp2 A G 16: 16,090,082 (GRCm39) Y790C probably damaging Het
Pomt1 T A 2: 32,142,873 (GRCm39) probably null Het
Pp2d1 G A 17: 53,822,487 (GRCm39) T193M probably damaging Het
Prkra G T 2: 76,460,797 (GRCm39) H300Q probably damaging Het
Ror2 T G 13: 53,265,487 (GRCm39) N523T probably damaging Het
Rp1 A T 1: 4,069,831 (GRCm39) D1355E unknown Het
Rsph4a T C 10: 33,781,272 (GRCm39) Y41H probably benign Het
Scn1a T A 2: 66,162,557 (GRCm39) I230F probably damaging Het
Taar7e T A 10: 23,913,513 (GRCm39) M1K probably null Het
Tex15 T G 8: 34,063,212 (GRCm39) L1155V probably benign Het
Tmprss3 T C 17: 31,407,331 (GRCm39) K321E probably benign Het
Trappc14 A G 5: 138,258,926 (GRCm39) V211A probably benign Het
Tsc2 A T 17: 24,832,203 (GRCm39) C728S probably damaging Het
Ube2e3 A T 2: 78,750,383 (GRCm39) K203M probably damaging Het
Unc50 A T 1: 37,477,783 (GRCm39) T222S probably damaging Het
Vmn1r236 A T 17: 21,507,878 (GRCm39) H332L probably benign Het
Vmn2r7 G A 3: 64,598,760 (GRCm39) T599I probably benign Het
Zfp334 A T 2: 165,223,799 (GRCm39) D81E possibly damaging Het
Zfp710 A G 7: 79,731,788 (GRCm39) I322V possibly damaging 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
R1557:Abca3 UTSW 17 24,618,954 (GRCm39) missense possibly damaging 0.46
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
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'- TCAGAAATGGCCTGGTCTGG -3'
(R):5'- ATCTTCTAGGATGCTGCCTGC -3'

Sequencing Primer
(F):5'- CTGCACAAGACTTTGTCATTCAGGG -3'
(R):5'- CTGCCTGCAGAGAAGAGAGC -3'
Posted On 2018-11-06