Incidental Mutation 'R0278:Abca3'
ID 24498
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 038500-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0278 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 24570997-24629178 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 24600894 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 436 (D436G)
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: D436G

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000045285
Gene: ENSMUSG00000024130
AA Change: D436G

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: D436G

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000078544
Gene: ENSMUSG00000024130
AA Change: D436G

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 unknown
Transcript: ENSMUST00000117337
AA Change: D436G
SMART Domains Protein: ENSMUSP00000113538
Gene: ENSMUSG00000024130
AA Change: D436G

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: ENSMUST00000136295
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148557
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149233
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 95.4%
  • 20x: 90.7%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,328,215 (GRCm39) S3429R probably damaging Het
Acacb C A 5: 114,371,320 (GRCm39) Y1816* probably null Het
Acer3 T C 7: 97,910,804 (GRCm39) Y86C probably damaging Het
Adgre1 A G 17: 57,754,872 (GRCm39) I657V probably benign Het
Akap1 A G 11: 88,736,020 (GRCm39) V214A probably benign Het
Ankrd42 T C 7: 92,280,865 (GRCm39) R22G possibly damaging Het
Apc2 C T 10: 80,148,647 (GRCm39) P1234S possibly damaging Het
Atp13a4 A G 16: 29,273,652 (GRCm39) I441T probably damaging Het
Cenpu G A 8: 47,031,344 (GRCm39) A242T probably damaging Het
Col6a6 A T 9: 105,644,487 (GRCm39) V1267E possibly damaging Het
Crhr2 T C 6: 55,094,516 (GRCm39) T58A probably benign Het
Ddx6 T G 9: 44,542,722 (GRCm39) C385G probably damaging Het
Dnah7a A T 1: 53,543,305 (GRCm39) N2288K probably benign Het
Egfl8 A T 17: 34,833,342 (GRCm39) probably null Het
Elmo2 A T 2: 165,139,287 (GRCm39) I420N probably damaging Het
Elovl4 A G 9: 83,665,248 (GRCm39) F113L probably benign Het
Fancd2 T A 6: 113,525,409 (GRCm39) probably null Het
Fbxl13 A G 5: 21,728,908 (GRCm39) V456A probably benign Het
Fgfr2 A T 7: 129,863,592 (GRCm39) probably null Het
Fkbpl A T 17: 34,864,384 (GRCm39) R51* probably null Het
Fn3krp G A 11: 121,312,406 (GRCm39) V40M probably damaging Het
Fnip1 A G 11: 54,380,169 (GRCm39) probably null Het
Gm15446 A T 5: 110,091,281 (GRCm39) Q511L probably benign Het
Gm7334 A G 17: 51,006,289 (GRCm39) K192E probably damaging Het
H2-Q10 A T 17: 35,784,204 (GRCm39) T282S possibly damaging Het
Hspa9 A G 18: 35,073,963 (GRCm39) V482A possibly damaging Het
Ica1l A T 1: 60,053,155 (GRCm39) S128T probably benign Het
Il7r A T 15: 9,516,423 (GRCm39) I126K probably damaging Het
Kcnj8 T C 6: 142,516,074 (GRCm39) E11G probably benign Het
Klkb1 A C 8: 45,725,446 (GRCm39) F498V probably benign Het
Lama1 A G 17: 68,117,178 (GRCm39) E2491G probably null Het
Lhfpl2 T C 13: 94,310,943 (GRCm39) V71A probably benign Het
Lin9 T C 1: 180,493,488 (GRCm39) I198T probably damaging Het
Lrrc7 T A 3: 157,885,432 (GRCm39) M431L possibly damaging Het
Nmt2 A G 2: 3,326,424 (GRCm39) T519A probably benign Het
Or10w1 C A 19: 13,632,128 (GRCm39) L112I probably damaging Het
Or10w1 T A 19: 13,632,129 (GRCm39) L112H probably damaging Het
Or1d2 T C 11: 74,256,028 (GRCm39) F178L probably damaging Het
Or4a74 G T 2: 89,440,108 (GRCm39) L113M probably damaging Het
Or4a74 A T 2: 89,440,107 (GRCm39) L113Q probably damaging Het
Or5al7 A T 2: 85,992,923 (GRCm39) Y123* probably null Het
Or7h8 G T 9: 20,124,182 (GRCm39) C179F probably damaging Het
Parp4 A G 14: 56,844,980 (GRCm39) R624G probably damaging Het
Pex16 C T 2: 92,211,401 (GRCm39) P325S probably damaging Het
Pik3ca T C 3: 32,493,902 (GRCm39) M288T possibly damaging Het
Pla2g5 C T 4: 138,527,967 (GRCm39) D100N probably benign Het
Prss43 T A 9: 110,656,430 (GRCm39) M39K probably benign Het
Psd4 T C 2: 24,284,450 (GRCm39) S105P probably damaging Het
Ptprz1 T A 6: 23,000,816 (GRCm39) S969T probably benign Het
Rad23b T A 4: 55,383,575 (GRCm39) probably null Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rpl10l A G 12: 66,331,130 (GRCm39) M1T probably null Het
Sec16a A G 2: 26,318,328 (GRCm39) S1588P probably damaging Het
Sh3rf1 A T 8: 61,827,052 (GRCm39) H602L probably damaging Het
Sparcl1 A T 5: 104,236,263 (GRCm39) S497T probably benign Het
Spata13 A G 14: 60,929,537 (GRCm39) Y365C probably benign Het
Trim5 T C 7: 103,928,882 (GRCm39) N20D probably benign Het
Vmn1r201 G T 13: 22,659,194 (GRCm39) W136L probably damaging Het
Vmn2r112 A G 17: 22,821,987 (GRCm39) I222V probably benign Het
Vmn2r56 A T 7: 12,449,644 (GRCm39) V198D probably damaging Het
Wapl A G 14: 34,414,569 (GRCm39) D477G possibly damaging Het
Zfp202 C A 9: 40,119,778 (GRCm39) H194N probably benign Het
Zfp212 C T 6: 47,903,453 (GRCm39) R13W 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
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
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'- TGGGGAATGGGATATAGCACAATTGGTA -3'
(R):5'- GCATCAGCACTCACCATAAGGAAGAA -3'

Sequencing Primer
(F):5'- gctggagccaaaaggattac -3'
(R):5'- TCACCATAAGGAAGAAGTGCC -3'
Posted On 2013-04-16