Incidental Mutation 'R3941:Abcc1'
ID 307468
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 040923-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.164) question?
Stock # R3941 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 14179317-14292743 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 14214263 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 193 (T193S)
Ref Sequence ENSEMBL: ENSMUSP00000115763 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100167] [ENSMUST00000130671] [ENSMUST00000133454] [ENSMUST00000134776] [ENSMUST00000144676] [ENSMUST00000147759] [ENSMUST00000154748]
AlphaFold O35379
Predicted Effect probably benign
Transcript: ENSMUST00000100167
AA Change: T180S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000097743
Gene: ENSMUSG00000023088
AA Change: T180S

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
AA Change: T180S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000116714
Gene: ENSMUSG00000023088
AA Change: T180S

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
AA Change: T180S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000122656
Gene: ENSMUSG00000023088
AA Change: T180S

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: ENSMUST00000134776
SMART Domains Protein: ENSMUSP00000120933
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 131 153 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144074
Predicted Effect probably benign
Transcript: ENSMUST00000144676
SMART Domains Protein: ENSMUSP00000116726
Gene: ENSMUSG00000023088

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
transmembrane domain 63 80 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000147759
AA Change: T180S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000115627
Gene: ENSMUSG00000023088
AA Change: T180S

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: ENSMUST00000154748
AA Change: T193S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000115763
Gene: ENSMUSG00000023088
AA Change: T193S

DomainStartEndE-ValueType
transmembrane domain 36 58 N/A INTRINSIC
transmembrane domain 78 100 N/A INTRINSIC
transmembrane domain 115 137 N/A INTRINSIC
transmembrane domain 144 166 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency 98% (55/56)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap11a A T 2: 113,667,242 (GRCm39) L435Q probably damaging Het
Bin1 T C 18: 32,539,211 (GRCm39) V48A probably damaging Het
Brinp3 C A 1: 146,627,599 (GRCm39) D277E probably damaging Het
Btn1a1 T G 13: 23,643,434 (GRCm39) R338S probably benign Het
Cacnb4 C A 2: 52,359,501 (GRCm39) R169L probably damaging Het
Ccdc80 A G 16: 44,916,455 (GRCm39) T404A probably benign Het
Cd2ap G C 17: 43,119,690 (GRCm39) H488D probably damaging Het
Cdon A G 9: 35,375,467 (GRCm39) T498A probably benign Het
Cngb3 A G 4: 19,396,786 (GRCm39) N380D probably benign Het
Col6a5 G A 9: 105,817,033 (GRCm39) S426F unknown Het
Cr2 A T 1: 194,848,122 (GRCm39) H345Q probably damaging Het
Cttnbp2 T A 6: 18,427,452 (GRCm39) K743M probably benign Het
Depdc1b T C 13: 108,505,370 (GRCm39) S245P probably damaging Het
Dync2h1 G A 9: 7,124,825 (GRCm39) H2016Y probably benign Het
Eif2s3y G T Y: 1,012,079 (GRCm39) R98L probably benign Het
Eml6 C T 11: 29,753,167 (GRCm39) G915S probably damaging Het
Fcgr1 A G 3: 96,193,349 (GRCm39) L216P probably benign Het
Fpr-rs3 T C 17: 20,845,111 (GRCm39) N10S probably benign Het
Frem3 T C 8: 81,341,649 (GRCm39) I1314T possibly damaging Het
Gabrr3 A G 16: 59,253,864 (GRCm39) N194D probably damaging Het
Hey1 A G 3: 8,729,638 (GRCm39) L273P probably damaging Het
Irf6 A G 1: 192,850,857 (GRCm39) K365E probably benign Het
Kit A G 5: 75,769,978 (GRCm39) D130G probably benign Het
Lrp1 G A 10: 127,389,265 (GRCm39) A3217V probably damaging Het
Mei4 C T 9: 81,809,336 (GRCm39) R140C probably benign Het
Mir100hg T C 9: 41,501,570 (GRCm39) L143P probably damaging Het
Mpo A T 11: 87,688,175 (GRCm39) K278M probably benign Het
Mprip T C 11: 59,622,328 (GRCm39) probably benign Het
Mug2 G C 6: 122,040,522 (GRCm39) G691R probably benign Het
Neto2 G A 8: 86,400,747 (GRCm39) T16I probably damaging Het
Nipal4 C T 11: 46,041,473 (GRCm39) V241M probably damaging Het
Nlrp2 A T 7: 5,330,551 (GRCm39) L615* probably null Het
Pcdh1 A G 18: 38,332,511 (GRCm39) V164A probably benign Het
Phc2 T C 4: 128,641,037 (GRCm39) probably null Het
Plekhg3 A G 12: 76,620,133 (GRCm39) E623G probably damaging Het
Psors1c2 G T 17: 35,844,825 (GRCm39) G29* probably null Het
Slc25a54 A T 3: 109,019,479 (GRCm39) D361V probably damaging Het
Slc39a12 A T 2: 14,400,992 (GRCm39) H123L possibly damaging Het
Sorl1 T C 9: 41,900,764 (GRCm39) probably null Het
Strn A T 17: 78,965,369 (GRCm39) I641N probably damaging Het
Tapbp A G 17: 34,139,457 (GRCm39) E151G possibly damaging Het
Ticrr T C 7: 79,343,445 (GRCm39) probably benign Het
Tnfrsf21 G A 17: 43,348,901 (GRCm39) C171Y probably damaging Het
Ttyh1 T A 7: 4,132,317 (GRCm39) L155H probably damaging Het
Utrn T A 10: 12,587,329 (GRCm39) probably null Het
Vmn1r175 A G 7: 23,508,393 (GRCm39) V78A probably benign Het
Vmn1r73 T C 7: 11,490,682 (GRCm39) Y167H probably damaging Het
Washc1 T C 17: 66,425,123 (GRCm39) S376P probably damaging Het
Wnt10a T A 1: 74,842,656 (GRCm39) probably null Het
Xrcc4 A G 13: 90,219,752 (GRCm39) V16A probably benign Het
Zeb1 T C 18: 5,767,799 (GRCm39) V770A probably benign Het
Zfp410 A G 12: 84,385,527 (GRCm39) N90S probably 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
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
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'- ATGACATCTCATGCCATTTTGG -3'
(R):5'- GCAATGTGAGTCTGCATTGG -3'

Sequencing Primer
(F):5'- GGGCCCCCACCACTGAAC -3'
(R):5'- GGGGCTCAGAACAAGTACCC -3'
Posted On 2015-04-17