Incidental Mutation 'IGL02902:Abcc1'
ID 363640
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 # IGL02902
Quality Score
Status
Chromosome 16
Chromosomal Location 14179317-14292743 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 14240991 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 516 (L516P)
Ref Sequence ENSEMBL: ENSMUSP00000097743 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100167] [ENSMUST00000130671] [ENSMUST00000133454] [ENSMUST00000147759]
AlphaFold O35379
Predicted Effect probably damaging
Transcript: ENSMUST00000100167
AA Change: L516P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097743
Gene: ENSMUSG00000023088
AA Change: L516P

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 damaging
Transcript: ENSMUST00000130671
AA Change: L516P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000116714
Gene: ENSMUSG00000023088
AA Change: L516P

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 damaging
Transcript: ENSMUST00000133454
AA Change: L516P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000122656
Gene: ENSMUSG00000023088
AA Change: L516P

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 damaging
Transcript: ENSMUST00000147759
AA Change: L516P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115627
Gene: ENSMUSG00000023088
AA Change: L516P

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: ENSMUST00000156089
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810459M11Rik G T 1: 85,974,087 (GRCm39) V135F possibly damaging Het
Aatk T C 11: 119,902,603 (GRCm39) T541A probably benign Het
Actl6a T A 3: 32,776,791 (GRCm39) V350E possibly damaging Het
Afm A G 5: 90,674,222 (GRCm39) K245E possibly damaging Het
Agr3 T C 12: 35,996,915 (GRCm39) V63A probably damaging Het
Arhgef28 A T 13: 98,083,383 (GRCm39) M1162K probably damaging Het
Casq2 T A 3: 101,994,113 (GRCm39) C53* probably null Het
Ccdc181 T C 1: 164,107,470 (GRCm39) V51A probably benign Het
Cd101 A G 3: 100,926,310 (GRCm39) probably benign Het
Csdc2 T C 15: 81,832,801 (GRCm39) V69A probably benign Het
Cyp2c23 A T 19: 44,009,997 (GRCm39) probably benign Het
Dnph1 A G 17: 46,809,427 (GRCm39) probably benign Het
Egf T C 3: 129,474,796 (GRCm39) T1124A probably benign Het
Gpr45 A G 1: 43,072,371 (GRCm39) E338G possibly damaging Het
Grb14 A C 2: 64,768,762 (GRCm39) L98R probably damaging Het
Gucy1a1 T C 3: 82,026,224 (GRCm39) S77G possibly damaging Het
Helb A G 10: 119,925,390 (GRCm39) S996P probably benign Het
Huwe1 A G X: 150,669,762 (GRCm39) E1405G probably damaging Het
Ifi47 T C 11: 48,986,617 (GRCm39) I128T probably benign Het
Ift140 T A 17: 25,309,736 (GRCm39) Y1089N probably damaging Het
Ift56 A C 6: 38,402,097 (GRCm39) S530R probably benign Het
Il1r1 A T 1: 40,341,569 (GRCm39) H324L probably benign Het
Irx1 C T 13: 72,107,974 (GRCm39) R236H probably benign Het
Itpr3 T C 17: 27,323,530 (GRCm39) V1185A probably benign Het
Kif19a T C 11: 114,676,396 (GRCm39) V450A possibly damaging Het
Krtap21-1 G T 16: 89,200,446 (GRCm39) Y65* probably null Het
Ltn1 A T 16: 87,176,693 (GRCm39) N1704K possibly damaging Het
Med1 T C 11: 98,047,335 (GRCm39) probably benign Het
Meis2 T A 2: 115,893,804 (GRCm39) H36L probably damaging Het
Mier2 T C 10: 79,385,456 (GRCm39) N124S probably damaging Het
Mmp20 A G 9: 7,654,171 (GRCm39) probably null Het
Muc4 A G 16: 32,569,212 (GRCm39) T91A possibly damaging Het
Myo3b T A 2: 70,119,745 (GRCm39) V935E probably benign Het
Ndufa7 T C 17: 34,048,632 (GRCm39) probably benign Het
Nipal1 A G 5: 72,825,405 (GRCm39) E366G possibly damaging Het
Nobox A T 6: 43,282,617 (GRCm39) N263K probably benign Het
Notch2 A G 3: 98,018,890 (GRCm39) D684G probably damaging Het
Odr4 C A 1: 150,260,179 (GRCm39) probably null Het
Or2t1 A G 14: 14,328,789 (GRCm38) H226R probably benign Het
Or4c12b T A 2: 89,647,508 (GRCm39) Y273* probably null Het
Or5p69 C A 7: 107,967,336 (GRCm39) T213K probably damaging Het
Or5w13 T C 2: 87,523,344 (GRCm39) N294S probably damaging Het
Or6aa1 T C 7: 86,043,743 (GRCm39) probably benign Het
Plau A C 14: 20,889,965 (GRCm39) D270A possibly damaging Het
Pof1b T C X: 111,558,809 (GRCm39) probably null Het
Pramel23 A G 4: 143,424,913 (GRCm39) C177R probably damaging Het
Prtn3 A T 10: 79,717,767 (GRCm39) probably null Het
Ptges3 T A 10: 127,904,616 (GRCm39) D26E probably benign Het
Pxmp2 T C 5: 110,429,160 (GRCm39) E99G probably benign Het
Rasgef1a A G 6: 118,060,068 (GRCm39) R106G probably benign Het
Rnf208 T C 2: 25,133,774 (GRCm39) V156A probably benign Het
Rps6ka1 A T 4: 133,599,292 (GRCm39) I45N possibly damaging Het
Rps6ka4 C T 19: 6,809,623 (GRCm39) probably null Het
Rsbn1 G T 3: 103,860,972 (GRCm39) C466F possibly damaging Het
Shkbp1 A T 7: 27,042,141 (GRCm39) C605S probably damaging Het
Slc2a10 G A 2: 165,360,142 (GRCm39) D531N probably benign Het
Sox13 A G 1: 133,317,204 (GRCm39) L143P probably damaging Het
Stx2 C T 5: 129,069,285 (GRCm39) R142Q probably damaging Het
Tanc1 T A 2: 59,623,431 (GRCm39) probably benign Het
Tubgcp5 C T 7: 55,456,355 (GRCm39) Q316* probably null Het
Ubc A G 5: 125,463,293 (GRCm39) V678A probably benign Het
Unc5d G A 8: 29,365,634 (GRCm39) T117I probably damaging Het
Vmn2r4 T C 3: 64,314,337 (GRCm39) I126V probably benign Het
Zfp410 T A 12: 84,378,594 (GRCm39) probably null 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
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 2015-12-18