Incidental Mutation 'R7303:Abca3'
ID 567130
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 045364-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7303 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 24570997-24629178 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 24617495 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 1064 (L1064R)
Ref Sequence ENSEMBL: ENSMUSP00000045285 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039013] [ENSMUST00000079594] [ENSMUST00000117337]
AlphaFold Q8R420
Predicted Effect possibly damaging
Transcript: ENSMUST00000039013
AA Change: L1064R

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000045285
Gene: ENSMUSG00000024130
AA Change: L1064R

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 possibly damaging
Transcript: ENSMUST00000079594
AA Change: L1064R

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000078544
Gene: ENSMUSG00000024130
AA Change: L1064R

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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
Abca7 A T 10: 79,850,822 (GRCm39) D2051V probably benign Het
Abcb5 T A 12: 118,875,295 (GRCm39) I626F probably damaging Het
Abcg5 A G 17: 84,977,774 (GRCm39) S333P probably damaging Het
Abl2 T C 1: 156,468,820 (GRCm39) S695P probably benign Het
Aen C T 7: 78,552,204 (GRCm39) P55S possibly damaging Het
Afg3l1 G T 8: 124,228,008 (GRCm39) A598S probably damaging Het
Aldh16a1 A T 7: 44,797,328 (GRCm39) L160Q probably damaging Het
Ang A T 14: 51,338,973 (GRCm39) H38L probably benign Het
Ankar A T 1: 72,698,192 (GRCm39) I954N probably benign Het
Aox1 A T 1: 58,373,924 (GRCm39) K862* probably null Het
Brme1 G C 8: 84,887,862 (GRCm39) G71A probably benign Het
Cad T C 5: 31,217,557 (GRCm39) probably null Het
Cc2d2b A T 19: 40,797,438 (GRCm39) Y740F unknown Het
Ccdc182 T C 11: 88,185,042 (GRCm39) Y41H probably benign Het
Chd9 A G 8: 91,778,532 (GRCm39) R2848G unknown Het
Chrna6 A T 8: 27,897,019 (GRCm39) L286* probably null Het
Cimap1d G A 10: 79,478,525 (GRCm39) P80S probably benign Het
Cracr2b A G 7: 141,043,115 (GRCm39) probably benign Het
Fam184b C T 5: 45,699,568 (GRCm39) probably null Het
Flnc T C 6: 29,460,849 (GRCm39) S2647P probably benign Het
Ftsj3 T C 11: 106,145,506 (GRCm39) D76G probably damaging Het
Fxyd1 T A 7: 30,753,743 (GRCm39) M17L probably benign Het
Golim4 G A 3: 75,785,360 (GRCm39) S677L probably damaging Het
Gpr149 A G 3: 62,502,491 (GRCm39) V455A possibly damaging Het
H2-Q1 C A 17: 35,540,312 (GRCm39) S132R probably benign Het
H2-Q7 A G 17: 35,659,037 (GRCm39) I163V probably benign Het
Herc1 A T 9: 66,358,098 (GRCm39) D2393V possibly damaging Het
Hmgb2 A G 8: 57,965,762 (GRCm39) K44E possibly damaging Het
Itgad A G 7: 127,789,351 (GRCm39) D605G probably benign Het
Kbtbd12 G T 6: 88,591,094 (GRCm39) F16L unknown Het
Klhl23 T C 2: 69,655,045 (GRCm39) I305T probably benign Het
Lrguk A T 6: 34,006,411 (GRCm39) N7I probably benign Het
Lrp5 A G 19: 3,641,774 (GRCm39) L1396P probably damaging Het
Mapkapk5 T C 5: 121,678,637 (GRCm39) E13G probably benign Het
Mark3 T C 12: 111,621,970 (GRCm39) V704A probably damaging Het
Mast2 A G 4: 116,165,508 (GRCm39) S1303P possibly damaging Het
Mcm2 T C 6: 88,864,928 (GRCm39) D516G probably damaging Het
Mon2 A T 10: 122,874,364 (GRCm39) probably null Het
Mrc2 T A 11: 105,216,629 (GRCm39) N139K probably damaging Het
Myh14 C T 7: 44,261,125 (GRCm39) E1789K probably damaging Het
Myh7b T A 2: 155,460,660 (GRCm39) L271Q probably damaging Het
Oog2 A T 4: 143,921,912 (GRCm39) H274L probably benign Het
Oosp1 A C 19: 11,645,774 (GRCm39) S121R probably benign Het
Or13a28 T C 7: 140,218,267 (GRCm39) S218P probably damaging Het
Or8k3b A G 2: 86,521,166 (GRCm39) V51A probably benign Het
Pepd T C 7: 34,721,197 (GRCm39) probably null Het
Pik3c2a A C 7: 116,005,178 (GRCm39) S363R probably benign Het
Polr2b T C 5: 77,468,868 (GRCm39) Y215H probably benign Het
Ppcdc A T 9: 57,321,958 (GRCm39) V194E probably benign Het
Rabgap1l A C 1: 160,509,667 (GRCm39) I470S probably benign Het
Scgb1b3 G A 7: 31,075,383 (GRCm39) A78T probably benign Het
Slc9a5 T A 8: 106,083,345 (GRCm39) L368Q probably damaging Het
Spef2 T A 15: 9,647,576 (GRCm39) I944F possibly damaging Het
Syne1 T A 10: 5,206,805 (GRCm39) H3461L probably benign Het
Tas2r134 A G 2: 51,518,145 (GRCm39) Y208C probably benign Het
Tasor A G 14: 27,193,809 (GRCm39) E1003G probably damaging Het
Tm9sf3 G A 19: 41,227,198 (GRCm39) S291F probably damaging Het
Tra2a G A 6: 49,227,921 (GRCm39) T69I unknown Het
Ube2q1 T A 3: 89,683,898 (GRCm39) L171Q possibly damaging Het
Ufd1 A G 16: 18,636,715 (GRCm39) T78A probably damaging Het
Vmn1r13 T C 6: 57,187,587 (GRCm39) S249P probably damaging Het
Wdr91 G A 6: 34,861,258 (GRCm39) S648L probably benign Het
Zfp51 T A 17: 21,684,058 (GRCm39) N224K 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
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
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'- TCCATAGGTGACCTAGAGGAG -3'
(R):5'- GCTGAAGTGACCTTGGCTAAG -3'

Sequencing Primer
(F):5'- CATAGGTGACCTAGAGGAGTTCCTG -3'
(R):5'- AGCAGCAGCATCTAAGAATAATTAC -3'
Posted On 2019-06-26