Incidental Mutation 'IGL02651:Abcc1'
ID 302142
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Abcc1
Ensembl Gene ENSMUSG00000023088
Gene Name ATP-binding cassette, sub-family C member 1
Synonyms Mdrap, Mrp1, MRP, Abcc1b, Abcc1a
Accession Numbers
Essential gene? Probably non essential (E-score: 0.164) question?
Stock # IGL02651
Quality Score
Status
Chromosome 16
Chromosomal Location 14179317-14292743 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 14283990 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 1202 (C1202S)
Ref Sequence ENSEMBL: ENSMUSP00000097743 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100167] [ENSMUST00000130671] [ENSMUST00000133454] [ENSMUST00000147759]
AlphaFold O35379
Predicted Effect probably benign
Transcript: ENSMUST00000100167
AA Change: C1202S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000097743
Gene: ENSMUSG00000023088
AA Change: C1202S

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
Coding Region Coverage
Validation Efficiency
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf G A 19: 31,909,906 (GRCm39) G233S probably benign Het
Acaca C T 11: 84,136,030 (GRCm39) probably benign Het
Ap3b1 T A 13: 94,613,529 (GRCm39) F676Y probably damaging Het
Arhgef11 C A 3: 87,606,171 (GRCm39) Q309K probably damaging Het
Asgr1 T C 11: 69,947,956 (GRCm39) Y80H possibly damaging Het
Atp13a5 A T 16: 29,152,909 (GRCm39) probably benign Het
Atp2a3 C A 11: 72,866,165 (GRCm39) H262N probably benign Het
Atp8b2 A C 3: 89,861,896 (GRCm39) probably null Het
Btnl2 A G 17: 34,575,196 (GRCm39) M1V probably null Het
Cpsf3 T A 12: 21,343,298 (GRCm39) M121K probably damaging Het
Creb3l3 A G 10: 80,920,668 (GRCm39) I454T probably benign Het
Cyp2d12 A G 15: 82,440,941 (GRCm39) E153G probably damaging Het
Dnah5 A G 15: 28,350,768 (GRCm39) I2597V probably benign Het
Ercc5 C A 1: 44,196,104 (GRCm39) S32R probably damaging Het
Fchsd2 T A 7: 100,926,807 (GRCm39) N656K possibly damaging Het
Fga G A 3: 82,935,841 (GRCm39) E23K probably benign Het
Fn1 T C 1: 71,636,835 (GRCm39) T1925A possibly damaging Het
Fstl5 A T 3: 76,500,841 (GRCm39) E423D probably damaging Het
Glg1 C T 8: 111,887,359 (GRCm39) M465I possibly damaging Het
H2-M10.4 C A 17: 36,771,548 (GRCm39) R210L probably benign Het
Hbb-y T G 7: 103,501,957 (GRCm39) K105Q probably benign Het
Hspg2 A T 4: 137,284,756 (GRCm39) probably benign Het
Ipo11 T C 13: 107,012,114 (GRCm39) Y556C probably damaging Het
Itpr3 A G 17: 27,325,372 (GRCm39) M1322V probably damaging Het
Jhy A G 9: 40,828,631 (GRCm39) L425P probably damaging Het
Krt26 C T 11: 99,224,471 (GRCm39) R349Q probably benign Het
Ms4a6c A T 19: 11,455,669 (GRCm39) E159D possibly damaging Het
Msh6 A T 17: 88,296,943 (GRCm39) L1213F probably damaging Het
Npy1r A C 8: 67,157,675 (GRCm39) R328S possibly damaging Het
Or4a74 A T 2: 89,439,842 (GRCm39) N201K possibly damaging Het
Or5ak20 A C 2: 85,183,394 (GRCm39) L292R probably damaging Het
Pcdhb18 T G 18: 37,624,234 (GRCm39) Y521* probably null Het
Pkhd1l1 A T 15: 44,347,210 (GRCm39) Y192F probably damaging Het
Rdh12 T A 12: 79,268,826 (GRCm39) I301N probably damaging Het
Rptor T C 11: 119,783,438 (GRCm39) V1144A possibly damaging Het
Sap25 T C 5: 137,640,632 (GRCm39) F171L possibly damaging Het
Senp5 A G 16: 31,808,897 (GRCm39) L92P probably benign Het
Sfmbt1 T C 14: 30,537,494 (GRCm39) S736P probably damaging Het
Tacr1 T C 6: 82,469,622 (GRCm39) S169P probably damaging Het
Tbc1d21 A T 9: 58,270,384 (GRCm39) Y130* probably null Het
Tle2 G A 10: 81,422,723 (GRCm39) G428D probably damaging Het
Tmem117 T A 15: 94,992,442 (GRCm39) N367K probably damaging Het
Tmem210 A G 2: 25,179,101 (GRCm39) T130A possibly damaging Het
Ttn T G 2: 76,680,368 (GRCm39) probably benign Het
Ttyh1 T C 7: 4,127,678 (GRCm39) L122P probably damaging Het
Vmn2r60 T C 7: 41,845,010 (GRCm39) F791S probably damaging Het
Vps13d A T 4: 144,891,129 (GRCm39) N575K probably benign Het
Vps8 T C 16: 21,336,086 (GRCm39) V746A probably damaging Het
Wdfy3 A T 5: 102,044,341 (GRCm39) M1888K probably benign Het
Zfp595 T C 13: 67,469,017 (GRCm39) D3G probably benign 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
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
R0894:Abcc1 UTSW 16 14,283,001 (GRCm39) missense possibly damaging 0.64
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
Posted On 2015-04-16