Incidental Mutation 'R5620:Abca3'
ID 439816
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 043160-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5620 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 24570997-24629178 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 24615444 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 845 (T845I)
Ref Sequence ENSEMBL: ENSMUSP00000078544 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039013] [ENSMUST00000079594] [ENSMUST00000117337]
AlphaFold Q8R420
Predicted Effect probably benign
Transcript: ENSMUST00000039013
AA Change: T845I

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000045285
Gene: ENSMUSG00000024130
AA Change: T845I

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: T845I

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000078544
Gene: ENSMUSG00000024130
AA Change: T845I

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
SMART Domains Protein: ENSMUSP00000113538
Gene: ENSMUSG00000024130

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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas A C 15: 102,246,826 (GRCm39) S511A probably benign Het
Acaa2 G A 18: 74,938,945 (GRCm39) A377T possibly damaging Het
Adcy4 C A 14: 56,009,824 (GRCm39) E743* probably null Het
Ahnak T A 19: 8,990,458 (GRCm39) L3914* probably null Het
Akap1 G T 11: 88,736,343 (GRCm39) N106K possibly damaging Het
Arid2 C T 15: 96,270,387 (GRCm39) T1500I probably benign Het
Atp6v0a2 T A 5: 124,783,909 (GRCm39) Y252* probably null Het
C4bp A G 1: 130,581,090 (GRCm39) S140P probably damaging Het
Cald1 A G 6: 34,739,047 (GRCm39) I384M probably damaging Het
Cdk12 A G 11: 98,101,809 (GRCm39) I556V unknown Het
Chmp2a T C 7: 12,766,237 (GRCm39) S174G probably benign Het
Clybl T A 14: 122,548,755 (GRCm39) N52K probably damaging Het
Cyp4a29 C A 4: 115,108,088 (GRCm39) S303R probably benign Het
Dab2 T A 15: 6,447,796 (GRCm39) D59E probably damaging Het
Dag1 C A 9: 108,086,214 (GRCm39) R309L probably damaging Het
Dync1i2 T A 2: 71,088,483 (GRCm39) M505K probably benign Het
Eif2b1 A T 5: 124,717,075 (GRCm39) M1K probably null Het
Epc1 A G 18: 6,448,917 (GRCm39) S577P probably benign Het
Eps8l1 T A 7: 4,463,945 (GRCm39) I23N possibly damaging Het
Etl4 A G 2: 20,535,037 (GRCm39) E164G probably damaging Het
Firrm C A 1: 163,789,613 (GRCm39) G641* probably null Het
Gadl1 A T 9: 115,766,230 (GRCm39) M1L probably benign Het
Gda T C 19: 21,374,908 (GRCm39) D336G probably damaging Het
Grm2 A T 9: 106,527,645 (GRCm39) V413D probably damaging Het
Hnrnpll G T 17: 80,346,051 (GRCm39) N403K probably damaging Het
Ifit1 T A 19: 34,625,238 (GRCm39) F125I probably damaging Het
Igkv5-43 C T 6: 69,800,892 (GRCm39) V2I probably benign Het
Kat5 A C 19: 5,659,507 (GRCm39) Y44* probably null Het
Klc2 A G 19: 5,162,884 (GRCm39) V205A probably damaging Het
Klrb1c T A 6: 128,761,706 (GRCm39) T133S possibly damaging Het
Krt20 A G 11: 99,326,283 (GRCm39) L157P probably damaging Het
Krt26 G T 11: 99,228,597 (GRCm39) T45N possibly damaging Het
Lama2 C T 10: 26,866,876 (GRCm39) D2873N probably damaging Het
Lig1 T A 7: 13,020,532 (GRCm39) C114S possibly damaging Het
Lonp1 G C 17: 56,927,263 (GRCm39) A330G probably benign Het
Maml2 A T 9: 13,608,616 (GRCm39) R21S probably damaging Het
Mrpl35 C T 6: 71,794,720 (GRCm39) V83I probably benign Het
Myo3b A G 2: 70,069,254 (GRCm39) R498G probably benign Het
Nup153 C A 13: 46,837,482 (GRCm39) E1247* probably null Het
Or2t48 A T 11: 58,420,557 (GRCm39) M85K probably damaging Het
Pcdhac2 A G 18: 37,277,257 (GRCm39) N79S probably benign Het
Pcgf6 C T 19: 47,036,406 (GRCm39) G221D probably damaging Het
Phf11b C T 14: 59,558,953 (GRCm39) D260N probably benign Het
Pla2g5 T C 4: 138,531,921 (GRCm39) M28V possibly damaging Het
Prpf8 T C 11: 75,395,927 (GRCm39) S1934P possibly damaging Het
Prr5 A G 15: 84,640,570 (GRCm39) S140G probably benign Het
Prrc2c T C 1: 162,501,098 (GRCm39) D1235G probably damaging Het
Rasgrp2 T C 19: 6,455,031 (GRCm39) S254P probably damaging Het
Rassf8 C T 6: 145,765,907 (GRCm39) probably benign Het
Rgs20 T A 1: 4,982,666 (GRCm39) E167D probably damaging Het
Rmnd1 G T 10: 4,372,159 (GRCm39) A180E probably damaging Het
Rnf103 A G 6: 71,486,992 (GRCm39) D541G probably benign Het
Rpl9 G T 5: 65,546,468 (GRCm39) Q140K probably benign Het
Sfmbt1 T G 14: 30,506,148 (GRCm39) probably null Het
Shank1 C A 7: 43,962,160 (GRCm39) D10E unknown Het
Srrm4 G T 5: 116,587,672 (GRCm39) probably benign Het
Sucla2 T A 14: 73,832,836 (GRCm39) V447E probably damaging Het
Tbc1d1 A G 5: 64,331,055 (GRCm39) D78G probably benign Het
Tcp1 T A 17: 13,138,224 (GRCm39) probably null Het
Tctn3 C A 19: 40,597,361 (GRCm39) E230* probably null Het
Thsd7b G A 1: 130,090,673 (GRCm39) probably null Het
Tmem63a A G 1: 180,797,811 (GRCm39) M621V probably benign Het
Tnxb A T 17: 34,936,504 (GRCm39) K2756* probably null Het
Trpm8 G A 1: 88,287,373 (GRCm39) probably null Het
Txndc16 C A 14: 45,373,335 (GRCm39) V764F possibly damaging Het
Ush2a A T 1: 188,492,020 (GRCm39) D3103V possibly damaging Het
Usp22 A T 11: 61,049,206 (GRCm39) I381N probably damaging Het
Zfp462 T A 4: 55,013,464 (GRCm39) M1810K probably benign Het
Zfp64 T A 2: 168,741,888 (GRCm39) M347L possibly damaging Het
Zfp69 T C 4: 120,787,719 (GRCm39) D532G probably 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
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'- CATGGACATTATTTCTGGCTACC -3'
(R):5'- TGTATGGTCCCAGCTTGAGG -3'

Sequencing Primer
(F):5'- CTAAAGAGGATGTTCTGGAGATGTC -3'
(R):5'- GTGCTCACCCCTGTGTTGAG -3'
Posted On 2016-11-08