Incidental Mutation 'R8699:Abca3'
ID 668961
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 068553-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8699 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 24570997-24629178 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 24627199 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 1555 (D1555G)
Ref Sequence ENSEMBL: ENSMUSP00000045285 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039013] [ENSMUST00000079594] [ENSMUST00000117337]
AlphaFold Q8R420
Predicted Effect probably benign
Transcript: ENSMUST00000039013
AA Change: D1555G

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000045285
Gene: ENSMUSG00000024130
AA Change: D1555G

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: D1555G

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000078544
Gene: ENSMUSG00000024130
AA Change: D1555G

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
AA Change: D1300G

PolyPhen 2 Score 0.214 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000113538
Gene: ENSMUSG00000024130
AA Change: D1300G

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: 100.0%
  • 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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933430I17Rik T C 4: 62,450,515 (GRCm39) W30R probably damaging Het
Anapc1 T C 2: 128,483,373 (GRCm39) T1241A probably damaging Het
Ano5 G A 7: 51,243,519 (GRCm39) V881I probably benign Het
Appl1 G A 14: 26,662,212 (GRCm39) S490L probably benign Het
Asxl3 A G 18: 22,567,664 (GRCm39) T81A probably benign Het
Bclaf1 T C 10: 20,209,184 (GRCm39) S754P possibly damaging Het
Bicra G T 7: 15,723,113 (GRCm39) Q135K probably benign Het
Cad T C 5: 31,233,605 (GRCm39) V1951A possibly damaging Het
Cadm3 T A 1: 173,168,683 (GRCm39) Y295F probably damaging Het
Ccnt1 A G 15: 98,462,995 (GRCm39) I59T probably damaging Het
Ccr6 C T 17: 8,475,398 (GRCm39) T201M probably benign Het
Cd5 A G 19: 10,702,556 (GRCm39) F209S possibly damaging Het
Cep126 A C 9: 8,087,362 (GRCm39) D1017E probably damaging Het
Cfap298 T C 16: 90,727,945 (GRCm39) K82E probably benign Het
Cntnap4 A T 8: 113,484,228 (GRCm39) D427V probably damaging Het
Col4a4 T A 1: 82,433,455 (GRCm39) N1496I unknown Het
Crybg3 A G 16: 59,375,291 (GRCm39) Y274H probably damaging Het
Cubn C A 2: 13,388,770 (GRCm39) S1479I probably damaging Het
Diras2 A T 13: 52,662,143 (GRCm39) C55S probably damaging Het
Dleu7 G A 14: 62,530,279 (GRCm39) R41C probably benign Het
Dync2i1 T C 12: 116,171,321 (GRCm39) T972A probably benign Het
Efcab3 A G 11: 104,672,072 (GRCm39) T1464A probably benign Het
Exo5 A G 4: 120,779,193 (GRCm39) I224T probably damaging Het
Fcho1 T C 8: 72,162,277 (GRCm39) I774V possibly damaging Het
Gclm T G 3: 122,059,972 (GRCm39) S251A possibly damaging Het
Gm13889 T C 2: 93,787,327 (GRCm39) Q49R unknown Het
Gm35315 T A 5: 110,228,392 (GRCm39) H18L probably benign Het
Gm9949 G A 18: 62,317,043 (GRCm39) G65R unknown Het
Gpr153 C T 4: 152,363,558 (GRCm39) probably benign Het
Gria4 C A 9: 4,424,347 (GRCm39) K839N probably damaging Het
Gria4 T G 9: 4,424,351 (GRCm39) Y838S probably damaging Het
Hrh3 A G 2: 179,743,149 (GRCm39) W160R probably damaging Het
Htr4 G A 18: 62,570,763 (GRCm39) A273T probably damaging Het
Lig3 G T 11: 82,685,376 (GRCm39) C599F probably damaging Het
Lrp1b A T 2: 41,172,207 (GRCm39) V1594E Het
Map3k10 A T 7: 27,367,780 (GRCm39) V286D probably damaging Het
Map4k4 T A 1: 40,015,910 (GRCm39) V117E unknown Het
Mdga1 C T 17: 30,061,348 (GRCm39) V548M possibly damaging Het
Mms22l A T 4: 24,507,363 (GRCm39) L248F possibly damaging Het
Ncaph T C 2: 126,963,096 (GRCm39) D379G possibly damaging Het
Neb A G 2: 52,037,246 (GRCm39) V7064A probably benign Het
Neb G A 2: 52,102,563 (GRCm39) T4570M probably benign Het
Npy5r G T 8: 67,134,274 (GRCm39) T173K probably damaging Het
Or52a33 A T 7: 103,288,822 (GRCm39) I175N probably damaging Het
Or5b94 A G 19: 12,652,246 (GRCm39) M226V probably benign Het
Or5b97 A T 19: 12,878,828 (GRCm39) F105L possibly damaging Het
Or5g25 A T 2: 85,478,330 (GRCm39) C112S possibly damaging Het
Or8u10 A T 2: 85,915,518 (GRCm39) I201N probably damaging Het
Oxsm A G 14: 16,242,631 (GRCm38) I46T possibly damaging Het
Pcdha1 A T 18: 37,064,076 (GRCm39) I247F probably benign Het
Pcdhgb6 A T 18: 37,875,975 (GRCm39) I228L probably benign Het
Peg10 T TCCA 6: 4,756,451 (GRCm39) probably benign Het
Ppp1r9a A G 6: 5,115,474 (GRCm39) S866G probably benign Het
Ppp6r3 T A 19: 3,546,587 (GRCm39) S304C probably damaging Het
Pramel11 A T 4: 143,623,762 (GRCm39) N137K probably benign Het
Ptprd A T 4: 75,959,629 (GRCm39) F279I probably benign Het
Repin1 G T 6: 48,574,279 (GRCm39) E403* probably null Het
Rest G A 5: 77,429,389 (GRCm39) G603R probably benign Het
Rgs17 A T 10: 5,868,194 (GRCm39) L9M probably benign Het
Rtp1 A G 16: 23,250,133 (GRCm39) Y166C probably damaging Het
Sec24b C A 3: 129,798,653 (GRCm39) R572I probably damaging Het
Setd1a G T 7: 127,385,774 (GRCm39) R827L possibly damaging Het
Sh3tc1 T C 5: 35,859,235 (GRCm39) Y1091C probably damaging Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Stat4 T A 1: 52,111,096 (GRCm39) M181K probably benign Het
Stk16 A G 1: 75,188,682 (GRCm39) E67G probably benign Het
Supv3l1 A G 10: 62,268,234 (GRCm39) V537A possibly damaging Het
Tmc8 A G 11: 117,674,361 (GRCm39) E101G possibly damaging Het
Tmem106a A T 11: 101,473,120 (GRCm39) probably benign Het
Tpr T A 1: 150,293,772 (GRCm39) I922N probably damaging Het
Uaca G T 9: 60,778,347 (GRCm39) L911F probably damaging Het
Ubn1 A T 16: 4,881,567 (GRCm39) I200L possibly damaging Het
Ush2a A G 1: 188,643,574 (GRCm39) D4312G probably damaging Het
Virma A T 4: 11,528,678 (GRCm39) Y1255F probably benign Het
Vmn1r170 C T 7: 23,306,080 (GRCm39) Q161* probably null Het
Vmn1r175 G T 7: 23,508,234 (GRCm39) A131D probably benign Het
Vmn1r52 T A 6: 90,155,742 (GRCm39) N15K probably benign Het
Wdr46 T A 17: 34,167,826 (GRCm39) I513N probably damaging Het
Zfp788 A G 7: 41,297,840 (GRCm39) N159D 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
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
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'- TGACTGGGAGCAAGAGTATTTG -3'
(R):5'- ACCAGGCCATTTCTGATTCC -3'

Sequencing Primer
(F):5'- GTATTAATTACTGACCTTGCCTCCTG -3'
(R):5'- TGATTCCCCGTGCTGAGAGTAAC -3'
Posted On 2021-04-30