Incidental Mutation 'R0894:Abcc1'
ID 83713
Institutional Source Beutler Lab
Gene Symbol Abcc1
Ensembl Gene ENSMUSG00000023088
Gene Name ATP-binding cassette, sub-family C member 1
Synonyms Mdrap, Mrp1, MRP, Abcc1b, Abcc1a
MMRRC Submission 039057-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.164) question?
Stock # R0894 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 14179317-14292743 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 14283001 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1159 (V1159A)
Ref Sequence ENSEMBL: ENSMUSP00000097743 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100167] [ENSMUST00000130671] [ENSMUST00000133454] [ENSMUST00000147759]
AlphaFold O35379
Predicted Effect possibly damaging
Transcript: ENSMUST00000100167
AA Change: V1159A

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000097743
Gene: ENSMUSG00000023088
AA Change: V1159A

DomainStartEndE-ValueType
transmembrane domain 38 57 N/A INTRINSIC
transmembrane domain 77 94 N/A INTRINSIC
transmembrane domain 104 126 N/A INTRINSIC
transmembrane domain 139 161 N/A INTRINSIC
transmembrane domain 176 198 N/A INTRINSIC
low complexity region 279 290 N/A INTRINSIC
Pfam:ABC_membrane 326 597 7.8e-44 PFAM
AAA 670 845 4.07e-8 SMART
Pfam:ABC_membrane 971 1243 3e-52 PFAM
AAA 1316 1501 5.8e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000130671
SMART Domains Protein: ENSMUSP00000116714
Gene: ENSMUSG00000023088

DomainStartEndE-ValueType
transmembrane domain 38 57 N/A INTRINSIC
transmembrane domain 77 94 N/A INTRINSIC
transmembrane domain 104 126 N/A INTRINSIC
transmembrane domain 139 161 N/A INTRINSIC
transmembrane domain 176 198 N/A INTRINSIC
low complexity region 279 290 N/A INTRINSIC
Pfam:ABC_membrane 326 597 1.6e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000133454
SMART Domains Protein: ENSMUSP00000122656
Gene: ENSMUSG00000023088

DomainStartEndE-ValueType
transmembrane domain 38 57 N/A INTRINSIC
transmembrane domain 77 94 N/A INTRINSIC
transmembrane domain 104 126 N/A INTRINSIC
transmembrane domain 139 161 N/A INTRINSIC
transmembrane domain 176 198 N/A INTRINSIC
low complexity region 279 290 N/A INTRINSIC
Pfam:ABC_membrane 326 597 1.6e-48 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134960
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146032
Predicted Effect probably benign
Transcript: ENSMUST00000147759
SMART Domains Protein: ENSMUSP00000115627
Gene: ENSMUSG00000023088

DomainStartEndE-ValueType
transmembrane domain 38 57 N/A INTRINSIC
transmembrane domain 77 94 N/A INTRINSIC
transmembrane domain 104 126 N/A INTRINSIC
transmembrane domain 139 161 N/A INTRINSIC
transmembrane domain 176 198 N/A INTRINSIC
low complexity region 279 290 N/A INTRINSIC
Pfam:ABC_membrane 326 597 1.6e-48 PFAM
Meta Mutation Damage Score 0.1983 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.0%
  • 10x: 97.7%
  • 20x: 95.8%
Validation Efficiency 97% (102/105)
MGI Phenotype FUNCTION: 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 intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This full transporter is a member of the MRP subfamily which is involved in multi-drug resistance. This protein plays an essential role in the defense against toxic compounds and serves as the major high-affinity transporter of leukotriene C4. The encoded protein may also play an essential role in steroid hormone homeostasis as a transporter for steroid hormones and their metabolites. [provided by RefSeq, Nov 2011]
PHENOTYPE: Mice homozygous for targeted mutations that inactivate the gene have a reduced response to inflammatory stimulus, increased levels of glutathione due to impaired metabolism, and are hypersensitive to the anticancer drug etoposide. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 104 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A G 13: 77,471,726 (GRCm39) S1044G probably benign Het
Aanat A G 11: 116,487,730 (GRCm39) H143R probably benign Het
Abca8a A G 11: 109,941,792 (GRCm39) I1159T probably benign Het
Abcb1a G T 5: 8,724,856 (GRCm39) probably benign Het
Akr1e1 T A 13: 4,645,071 (GRCm39) Q204L probably damaging Het
Alk T C 17: 72,202,930 (GRCm39) Y1135C probably damaging Het
Atad2b C T 12: 5,015,915 (GRCm39) T547I probably damaging Het
Brd10 T C 19: 29,697,974 (GRCm39) probably benign Het
C030005K15Rik A T 10: 97,561,648 (GRCm39) S28T unknown Het
Cdk5rap3 A G 11: 96,799,654 (GRCm39) L387P probably damaging Het
Cfap95 T C 19: 23,630,062 (GRCm39) E10G unknown Het
Cfap96 A G 8: 46,409,497 (GRCm39) F274S probably damaging Het
Clec4f T A 6: 83,629,979 (GRCm39) N193I probably damaging Het
Col4a4 A T 1: 82,507,377 (GRCm39) probably null Het
Cplx4 T G 18: 66,090,116 (GRCm39) D101A possibly damaging Het
Cpne8 A T 15: 90,533,474 (GRCm39) D50E probably damaging Het
Csmd3 G T 15: 47,721,316 (GRCm39) D1542E possibly damaging Het
Ctdp1 A G 18: 80,512,736 (GRCm39) V9A probably benign Het
Ctnnd2 A T 15: 30,332,301 (GRCm39) probably benign Het
Cyp7b1 C T 3: 18,151,674 (GRCm39) A180T probably benign Het
Dcun1d5 C T 9: 7,203,379 (GRCm39) probably benign Het
Dgat1 G T 15: 76,387,199 (GRCm39) L363I possibly damaging Het
Dipk2b T A X: 18,289,791 (GRCm39) I224F possibly damaging Het
Dlg1 T A 16: 31,561,965 (GRCm39) H120Q probably benign Het
Dnah6 T C 6: 73,101,740 (GRCm39) N1928S probably benign Het
Dnai4 T C 4: 102,906,583 (GRCm39) probably benign Het
Dync2h1 A T 9: 7,041,734 (GRCm39) probably benign Het
Ednra T G 8: 78,446,649 (GRCm39) probably benign Het
Efcab6 A T 15: 83,802,493 (GRCm39) C845S probably benign Het
Egln1 A T 8: 125,642,435 (GRCm39) C303S probably damaging Het
Eomes T C 9: 118,311,368 (GRCm39) probably null Het
Epha1 A G 6: 42,340,756 (GRCm39) V568A probably benign Het
Ercc6 T A 14: 32,238,985 (GRCm39) N24K probably benign Het
Esco2 T C 14: 66,064,726 (GRCm39) Q338R probably benign Het
Fbxo46 T C 7: 18,869,654 (GRCm39) V91A probably damaging Het
Fryl A T 5: 73,198,675 (GRCm39) probably benign Het
Gab3 A C X: 74,077,024 (GRCm39) D43E probably damaging Het
Gltpd2 T A 11: 70,410,535 (GRCm39) probably benign Het
Gm17333 G T 16: 77,649,711 (GRCm39) noncoding transcript Het
Gm7353 T C 7: 3,160,570 (GRCm39) noncoding transcript Het
Grik4 T C 9: 42,599,405 (GRCm39) probably benign Het
Gtpbp2 G T 17: 46,476,895 (GRCm39) A358S possibly damaging Het
Hyls1 C T 9: 35,472,528 (GRCm39) C296Y probably damaging Het
Igf2r C T 17: 12,910,988 (GRCm39) M1943I probably benign Het
Iqca1l T C 5: 24,755,731 (GRCm39) probably null Het
Ireb2 T A 9: 54,803,861 (GRCm39) N517K probably damaging Het
Itga10 A G 3: 96,560,976 (GRCm39) S614G possibly damaging Het
Kdm2b A G 5: 123,122,523 (GRCm39) probably null Het
Kif17 T C 4: 138,025,542 (GRCm39) M948T possibly damaging Het
Klhl33 A T 14: 51,129,583 (GRCm39) N347K probably damaging Het
Llph T A 10: 120,064,086 (GRCm39) C67* probably null Het
Lrrn3 T C 12: 41,504,033 (GRCm39) T95A probably damaging Het
Map3k12 C A 15: 102,410,613 (GRCm39) A455S probably damaging Het
Mex3d T C 10: 80,217,376 (GRCm39) T149A probably benign Het
Myo7b A G 18: 32,133,123 (GRCm39) W409R probably damaging Het
Nbea A G 3: 55,916,761 (GRCm39) M833T possibly damaging Het
Ncapg A G 5: 45,837,236 (GRCm39) T436A probably null Het
Nkx1-2 C A 7: 132,201,042 (GRCm39) D72Y probably null Het
Or11g27 T C 14: 50,771,159 (GRCm39) S97P possibly damaging Het
Or2d3b T A 7: 106,514,317 (GRCm39) I304K probably benign Het
Or6c217 T A 10: 129,737,751 (GRCm39) N276I probably damaging Het
Pcdh15 A G 10: 74,460,087 (GRCm39) Y1308C probably damaging Het
Pcnx2 A G 8: 126,613,665 (GRCm39) probably benign Het
Pcsk1 G A 13: 75,246,096 (GRCm39) G158D probably damaging Het
Phkb A T 8: 86,744,070 (GRCm39) D573V probably damaging Het
Pik3r4 A G 9: 105,544,970 (GRCm39) K150E possibly damaging Het
Ppp2r5e C G 12: 75,516,341 (GRCm39) A239P probably damaging Het
Ppp4r4 C T 12: 103,566,754 (GRCm39) A67V probably damaging Het
Prex2 A G 1: 11,252,122 (GRCm39) T1056A probably benign Het
Prkca A T 11: 107,903,518 (GRCm39) Y285N possibly damaging Het
Psd T C 19: 46,301,880 (GRCm39) E903G probably damaging Het
Psg19 T C 7: 18,527,987 (GRCm39) E252G probably benign Het
Psg20 T A 7: 18,414,969 (GRCm39) K306* probably null Het
Pygl T G 12: 70,241,148 (GRCm39) probably benign Het
Rasgrf2 A G 13: 92,130,890 (GRCm39) S724P probably damaging Het
Reck C A 4: 43,922,967 (GRCm39) A414D probably damaging Het
Scn10a C A 9: 119,459,213 (GRCm39) V1150L probably damaging Het
Shc2 A T 10: 79,465,751 (GRCm39) I187N probably damaging Het
Sipa1l3 T A 7: 29,086,716 (GRCm39) K625* probably null Het
Slc44a4 T C 17: 35,147,466 (GRCm39) L583P possibly damaging Het
Slc5a11 G C 7: 122,857,643 (GRCm39) R244P possibly damaging Het
Slfn8 T A 11: 82,894,407 (GRCm39) Q744L probably benign Het
Snx2 G T 18: 53,309,488 (GRCm39) V13L probably benign Het
Spmip5 A T 19: 58,776,015 (GRCm39) L138Q probably damaging Het
Spsb1 C T 4: 149,990,872 (GRCm39) probably null Het
Stfa2l1 A T 16: 35,977,228 (GRCm39) I8L probably benign Het
Svil G T 18: 5,097,494 (GRCm39) R1659L probably damaging Het
Tbccd1 A T 16: 22,640,995 (GRCm39) L461M probably benign Het
Tmem9 A T 1: 135,961,926 (GRCm39) T174S possibly damaging Het
Tnks2 T C 19: 36,867,450 (GRCm39) probably null Het
Tnrc18 C A 5: 142,800,869 (GRCm39) V30L probably benign Het
Tomm7 A G 5: 24,049,025 (GRCm39) F16S probably damaging Het
Ttf2 A G 3: 100,876,865 (GRCm39) probably benign Het
Ubr7 C A 12: 102,735,450 (GRCm39) T303N probably damaging Het
Ushbp1 A T 8: 71,842,868 (GRCm39) probably null Het
Vmn1r177 C A 7: 23,565,475 (GRCm39) V134F probably benign Het
Vmn2r12 A G 5: 109,235,716 (GRCm39) probably null Het
Vmn2r53 T G 7: 12,335,141 (GRCm39) H173P probably benign Het
Yars1 A T 4: 129,090,948 (GRCm39) M119L probably damaging Het
Zcrb1 A T 15: 93,295,038 (GRCm39) probably benign Het
Zfp267 T A 3: 36,218,935 (GRCm39) Y319* probably null Het
Zfp319 C A 8: 96,056,250 (GRCm39) probably benign Het
Zfp783 C G 6: 47,920,320 (GRCm39) noncoding transcript Het
Zfyve26 A G 12: 79,320,372 (GRCm39) I1024T possibly damaging Het
Other mutations in Abcc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Abcc1 APN 16 14,278,847 (GRCm39) missense probably benign 0.34
IGL00094:Abcc1 APN 16 14,288,398 (GRCm39) missense probably null 0.00
IGL00475:Abcc1 APN 16 14,254,437 (GRCm39) missense probably damaging 1.00
IGL00516:Abcc1 APN 16 14,231,176 (GRCm39) nonsense probably null
IGL00765:Abcc1 APN 16 14,229,372 (GRCm39) missense probably damaging 0.99
IGL00792:Abcc1 APN 16 14,228,790 (GRCm39) missense probably benign 0.18
IGL01678:Abcc1 APN 16 14,222,883 (GRCm39) missense probably null 0.96
IGL01683:Abcc1 APN 16 14,214,288 (GRCm39) missense probably damaging 1.00
IGL01955:Abcc1 APN 16 14,228,659 (GRCm39) missense probably damaging 1.00
IGL02048:Abcc1 APN 16 14,229,383 (GRCm39) missense probably damaging 0.98
IGL02345:Abcc1 APN 16 14,214,215 (GRCm39) missense possibly damaging 0.95
IGL02366:Abcc1 APN 16 14,285,843 (GRCm39) splice site probably benign
IGL02431:Abcc1 APN 16 14,237,598 (GRCm39) missense probably damaging 1.00
IGL02480:Abcc1 APN 16 14,221,869 (GRCm39) missense possibly damaging 0.87
IGL02651:Abcc1 APN 16 14,283,990 (GRCm39) missense probably benign 0.00
IGL02902:Abcc1 APN 16 14,240,991 (GRCm39) missense probably damaging 1.00
IGL03101:Abcc1 APN 16 14,207,732 (GRCm39) missense probably damaging 1.00
IGL03230:Abcc1 APN 16 14,275,811 (GRCm39) missense probably benign
IGL03308:Abcc1 APN 16 14,288,475 (GRCm39) missense possibly damaging 0.55
gloom UTSW 16 14,229,480 (GRCm39) missense probably damaging 1.00
loom UTSW 16 14,290,794 (GRCm39) missense probably damaging 0.96
PIT4544001:Abcc1 UTSW 16 14,222,943 (GRCm39) missense probably damaging 1.00
R0310:Abcc1 UTSW 16 14,228,791 (GRCm39) missense probably damaging 0.98
R0594:Abcc1 UTSW 16 14,207,744 (GRCm39) missense probably benign 0.05
R0928:Abcc1 UTSW 16 14,207,849 (GRCm39) critical splice donor site probably null
R1367:Abcc1 UTSW 16 14,261,250 (GRCm39) missense probably damaging 1.00
R1496:Abcc1 UTSW 16 14,266,298 (GRCm39) missense probably damaging 1.00
R1643:Abcc1 UTSW 16 14,231,232 (GRCm39) missense probably damaging 1.00
R1795:Abcc1 UTSW 16 14,283,001 (GRCm39) missense possibly damaging 0.64
R1834:Abcc1 UTSW 16 14,240,981 (GRCm39) missense possibly damaging 0.88
R1847:Abcc1 UTSW 16 14,263,313 (GRCm39) missense probably benign 0.02
R1959:Abcc1 UTSW 16 14,214,257 (GRCm39) missense probably damaging 1.00
R1961:Abcc1 UTSW 16 14,214,257 (GRCm39) missense probably damaging 1.00
R2017:Abcc1 UTSW 16 14,279,068 (GRCm39) missense probably damaging 1.00
R2224:Abcc1 UTSW 16 14,289,932 (GRCm39) missense probably damaging 1.00
R2377:Abcc1 UTSW 16 14,285,787 (GRCm39) missense probably damaging 0.97
R2513:Abcc1 UTSW 16 14,290,873 (GRCm39) splice site probably null
R2876:Abcc1 UTSW 16 14,275,824 (GRCm39) missense probably benign
R3003:Abcc1 UTSW 16 14,254,393 (GRCm39) missense probably damaging 1.00
R3941:Abcc1 UTSW 16 14,214,263 (GRCm39) missense probably benign 0.00
R4119:Abcc1 UTSW 16 14,211,877 (GRCm39) missense probably benign 0.43
R4191:Abcc1 UTSW 16 14,207,728 (GRCm39) missense probably damaging 1.00
R4369:Abcc1 UTSW 16 14,278,857 (GRCm39) missense possibly damaging 0.88
R4428:Abcc1 UTSW 16 14,263,164 (GRCm39) missense probably damaging 0.97
R4589:Abcc1 UTSW 16 14,211,895 (GRCm39) missense probably benign 0.00
R4779:Abcc1 UTSW 16 14,228,635 (GRCm39) missense probably benign 0.35
R5027:Abcc1 UTSW 16 14,221,917 (GRCm39) critical splice donor site probably null
R5275:Abcc1 UTSW 16 14,284,050 (GRCm39) missense probably damaging 1.00
R5418:Abcc1 UTSW 16 14,278,996 (GRCm39) missense probably benign 0.02
R5490:Abcc1 UTSW 16 14,228,781 (GRCm39) missense probably damaging 1.00
R5527:Abcc1 UTSW 16 14,278,842 (GRCm39) missense probably benign 0.18
R5641:Abcc1 UTSW 16 14,289,877 (GRCm39) missense probably benign 0.00
R5642:Abcc1 UTSW 16 14,261,319 (GRCm39) missense probably damaging 1.00
R5875:Abcc1 UTSW 16 14,284,901 (GRCm39) missense possibly damaging 0.94
R5916:Abcc1 UTSW 16 14,283,006 (GRCm39) missense possibly damaging 0.95
R6112:Abcc1 UTSW 16 14,278,780 (GRCm39) missense probably damaging 1.00
R6331:Abcc1 UTSW 16 14,282,920 (GRCm39) missense probably damaging 0.97
R6464:Abcc1 UTSW 16 14,265,354 (GRCm39) missense probably damaging 1.00
R6950:Abcc1 UTSW 16 14,229,480 (GRCm39) missense probably damaging 1.00
R7024:Abcc1 UTSW 16 14,231,247 (GRCm39) critical splice donor site probably null
R7115:Abcc1 UTSW 16 14,255,589 (GRCm39) missense probably benign 0.11
R7187:Abcc1 UTSW 16 14,284,861 (GRCm39) missense probably benign
R7298:Abcc1 UTSW 16 14,214,336 (GRCm39) missense possibly damaging 0.89
R7342:Abcc1 UTSW 16 14,283,033 (GRCm39) missense probably damaging 0.99
R7474:Abcc1 UTSW 16 14,290,850 (GRCm39) missense possibly damaging 0.95
R7488:Abcc1 UTSW 16 14,207,763 (GRCm39) nonsense probably null
R7583:Abcc1 UTSW 16 14,221,902 (GRCm39) missense probably damaging 1.00
R7619:Abcc1 UTSW 16 14,263,283 (GRCm39) missense probably damaging 0.96
R7971:Abcc1 UTSW 16 14,266,443 (GRCm39) missense probably benign
R8048:Abcc1 UTSW 16 14,228,708 (GRCm39) missense probably damaging 1.00
R8138:Abcc1 UTSW 16 14,290,751 (GRCm39) missense probably damaging 0.99
R8159:Abcc1 UTSW 16 14,290,794 (GRCm39) missense probably damaging 0.96
R8319:Abcc1 UTSW 16 14,214,315 (GRCm39) missense probably damaging 1.00
R8859:Abcc1 UTSW 16 14,214,225 (GRCm39) missense probably benign 0.00
R8980:Abcc1 UTSW 16 14,278,961 (GRCm39) missense probably damaging 0.99
R9480:Abcc1 UTSW 16 14,211,889 (GRCm39) missense probably damaging 1.00
R9519:Abcc1 UTSW 16 14,207,681 (GRCm39) missense probably benign
R9653:Abcc1 UTSW 16 14,214,257 (GRCm39) missense probably damaging 1.00
R9708:Abcc1 UTSW 16 14,254,417 (GRCm39) missense probably damaging 1.00
R9725:Abcc1 UTSW 16 14,290,797 (GRCm39) missense possibly damaging 0.52
R9786:Abcc1 UTSW 16 14,222,927 (GRCm39) missense probably damaging 1.00
X0026:Abcc1 UTSW 16 14,277,766 (GRCm39) missense possibly damaging 0.94
Z1088:Abcc1 UTSW 16 14,228,673 (GRCm39) missense probably benign 0.01
Z1177:Abcc1 UTSW 16 14,229,357 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGCCTTGTTGTCTCCACCTAAACAC -3'
(R):5'- GCCACCAAGCTATCTTTCCAGATCC -3'

Sequencing Primer
(F):5'- TTTATAGATGGCACACAGGACAC -3'
(R):5'- ctgcaatttgctaagtaatcaagg -3'
Posted On 2013-11-08