Incidental Mutation 'R1661:Abca3'
ID 186789
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 039697-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1661 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 24570997-24629178 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 24596816 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Glutamic Acid at position 423 (G423E)
Ref Sequence ENSEMBL: ENSMUSP00000078544 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039013] [ENSMUST00000079594] [ENSMUST00000117337]
AlphaFold Q8R420
Predicted Effect probably damaging
Transcript: ENSMUST00000039013
AA Change: G423E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000045285
Gene: ENSMUSG00000024130
AA Change: G423E

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: G423E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000078544
Gene: ENSMUSG00000024130
AA Change: G423E

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: G423E
SMART Domains Protein: ENSMUSP00000113538
Gene: ENSMUSG00000024130
AA Change: G423E

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
Meta Mutation Damage Score 0.1609 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 92.9%
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox3 A T 5: 35,760,371 (GRCm39) H429L probably damaging Het
Adamts9 G T 6: 92,857,604 (GRCm39) Q895K possibly damaging Het
Ajm1 T C 2: 25,469,167 (GRCm39) D248G possibly damaging Het
Amotl2 T A 9: 102,607,295 (GRCm39) I701N probably damaging Het
Angel2 T C 1: 190,669,664 (GRCm39) Y115H probably damaging Het
Appbp2 T C 11: 85,100,936 (GRCm39) probably null Het
Arhgap33 A C 7: 30,231,748 (GRCm39) C113W probably damaging Het
Asprv1 A G 6: 86,605,718 (GRCm39) N188S probably damaging Het
Atp8a2 T C 14: 60,097,635 (GRCm39) I798V possibly damaging Het
Caml C A 13: 55,779,784 (GRCm39) L286I probably benign Het
Ccdc125 A G 13: 100,830,081 (GRCm39) I284V probably benign Het
Cep89 A G 7: 35,117,105 (GRCm39) T236A possibly damaging Het
Cfap61 T C 2: 145,877,239 (GRCm39) probably null Het
Cog2 T C 8: 125,269,629 (GRCm39) F390L probably benign Het
Creg2 C T 1: 39,662,372 (GRCm39) W253* probably null Het
Cttnbp2 A T 6: 18,434,982 (GRCm39) I292K probably benign Het
Ddb1 A T 19: 10,606,444 (GRCm39) Y1114F probably benign Het
Dnah6 T C 6: 73,101,761 (GRCm39) E1921G probably benign Het
Dync1h1 T C 12: 110,622,791 (GRCm39) F3494L probably damaging Het
F7 A G 8: 13,085,209 (GRCm39) I412V probably benign Het
Fam222b A G 11: 78,045,987 (GRCm39) Y388C probably damaging Het
Fam227a G A 15: 79,504,878 (GRCm39) probably null Het
Fbxo32 A C 15: 58,054,865 (GRCm39) V156G probably damaging Het
Fem1b C T 9: 62,704,556 (GRCm39) V235I probably damaging Het
Fnip2 A G 3: 79,422,456 (GRCm39) F108S probably benign Het
Fras1 A T 5: 96,746,768 (GRCm39) S613C probably damaging Het
Garin1a G C 6: 29,285,937 (GRCm39) R132P probably damaging Het
Gm7276 C A 18: 77,273,266 (GRCm39) probably benign Het
Gnb4 A C 3: 32,644,188 (GRCm39) L152* probably null Het
Hsd17b4 G A 18: 50,293,282 (GRCm39) E274K probably benign Het
Htr4 T C 18: 62,545,305 (GRCm39) I30T probably damaging Het
Ighmbp2 A G 19: 3,317,246 (GRCm39) L542P probably damaging Het
Ikzf2 T A 1: 69,577,973 (GRCm39) Y512F probably damaging Het
Itpr1 A G 6: 108,459,858 (GRCm39) N2051D probably benign Het
Kif1c C T 11: 70,619,223 (GRCm39) L953F probably damaging Het
Klhl22 C A 16: 17,594,352 (GRCm39) D160E probably benign Het
Kpna6 T A 4: 129,551,264 (GRCm39) R80S probably benign Het
Lclat1 A G 17: 73,494,999 (GRCm39) E142G probably damaging Het
Lrig3 T C 10: 125,833,570 (GRCm39) Y349H probably benign Het
Lsmem1 GTACATACATACATACATACATACATACA GTACATACATACATACATACATACATACATACA 12: 40,235,260 (GRCm39) probably null Het
Map1b T A 13: 99,568,437 (GRCm39) N1428I unknown Het
Map3k19 T A 1: 127,745,393 (GRCm39) T1354S possibly damaging Het
Med13l T A 5: 118,887,813 (GRCm39) W1696R probably damaging Het
Megf8 A G 7: 25,063,272 (GRCm39) T2543A probably damaging Het
Mfn1 T G 3: 32,588,471 (GRCm39) V66G probably benign Het
Muc15 C T 2: 110,564,243 (GRCm39) Q260* probably null Het
Nfkb1 T C 3: 135,300,718 (GRCm39) H616R probably damaging Het
Nnmt A G 9: 48,516,174 (GRCm39) S29P probably benign Het
Nrde2 A T 12: 100,116,119 (GRCm39) S122T probably benign Het
Or10a2 T C 7: 106,673,481 (GRCm39) S149P probably damaging Het
Or4g16 T C 2: 111,137,116 (GRCm39) C189R probably damaging Het
Or7g33 C T 9: 19,448,624 (GRCm39) V201I probably benign Het
Pced1b A G 15: 97,282,594 (GRCm39) H211R probably benign Het
Pcsk5 A T 19: 17,424,938 (GRCm39) S1622T probably damaging Het
Pde10a A G 17: 9,117,702 (GRCm39) D26G probably damaging Het
Phf11a A T 14: 59,518,237 (GRCm39) L170H probably damaging Het
Ppil6 A G 10: 41,390,176 (GRCm39) D307G probably benign Het
Ppp6r2 A G 15: 89,137,254 (GRCm39) D6G possibly damaging Het
Psmd12 A T 11: 107,382,732 (GRCm39) K212N probably damaging Het
Rc3h1 T A 1: 160,786,993 (GRCm39) V796E probably benign Het
Rgl1 T C 1: 152,409,326 (GRCm39) Y503C probably damaging Het
Ryr1 A T 7: 28,801,163 (GRCm39) I860N probably damaging Het
Saal1 A T 7: 46,342,224 (GRCm39) N406K possibly damaging Het
Sh3pxd2a A T 19: 47,266,759 (GRCm39) Y277N probably damaging Het
Slitrk1 A T 14: 109,149,359 (GRCm39) Y451N probably damaging Het
Smad1 T C 8: 80,098,658 (GRCm39) E52G probably damaging Het
Smarcd1 A T 15: 99,605,519 (GRCm39) probably null Het
Smc3 A G 19: 53,613,496 (GRCm39) D403G probably benign Het
Srd5a2 A T 17: 74,328,476 (GRCm39) W201R probably damaging Het
Syt2 C A 1: 134,675,358 (GRCm39) A403D probably damaging Het
Tasor2 C T 13: 3,623,860 (GRCm39) S2030N possibly damaging Het
Tax1bp1 T A 6: 52,713,897 (GRCm39) S225R probably benign Het
Thap3 C T 4: 152,070,161 (GRCm39) V78M probably damaging Het
Thoc5 A G 11: 4,869,792 (GRCm39) K446R probably benign Het
Timmdc1 A C 16: 38,331,079 (GRCm39) probably null Het
Tmem126b G T 7: 90,125,179 (GRCm39) A2E probably damaging Het
Trim9 T A 12: 70,301,887 (GRCm39) R584W probably damaging Het
Vmn1r25 A T 6: 57,955,446 (GRCm39) I281N probably damaging Het
Wdr59 A G 8: 112,205,994 (GRCm39) F553S probably damaging Het
Wnt5a T C 14: 28,240,300 (GRCm39) M150T probably benign Het
Zfp53 A G 17: 21,729,766 (GRCm39) T600A 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
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'- AAGCTGAAGTTCCCCACTGCTG -3'
(R):5'- CTCCTGAAGTGAGGCTAACTGCTG -3'

Sequencing Primer
(F):5'- CGAGTCTCATGGCAAGTTTATC -3'
(R):5'- GCTAACTGCTGGGAACACTTC -3'
Posted On 2014-05-09