Incidental Mutation 'IGL02548:Abcc6'
ID297941
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Abcc6
Ensembl Gene ENSMUSG00000030834
Gene NameATP-binding cassette, sub-family C (CFTR/MRP), member 6
SynonymsMrp6, DCC, Dyscalc1
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.800) question?
Stock #IGL02548
Quality Score
Status
Chromosome7
Chromosomal Location45967555-46030302 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 46005262 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Valine at position 545 (A545V)
Ref Sequence ENSEMBL: ENSMUSP00000002850 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002850]
Predicted Effect probably damaging
Transcript: ENSMUST00000002850
AA Change: A545V

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000002850
Gene: ENSMUSG00000030834
AA Change: A545V

DomainStartEndE-ValueType
transmembrane domain 44 61 N/A INTRINSIC
transmembrane domain 81 100 N/A INTRINSIC
transmembrane domain 110 129 N/A INTRINSIC
transmembrane domain 142 161 N/A INTRINSIC
transmembrane domain 171 193 N/A INTRINSIC
Pfam:ABC_membrane 309 580 3.5e-29 PFAM
AAA 653 828 1.19e-9 SMART
low complexity region 871 885 N/A INTRINSIC
Pfam:ABC_membrane 942 1211 2.5e-32 PFAM
AAA 1286 1473 1.71e-10 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211780
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: The 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 protein is a member of the MRP subfamily which is involved in multi-drug resistance. The specific function of this protein is unknown; however, a similar rat protein has been identified as the major canalicular bile salt export pump of liver. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display patchy mineralization which may include the capsule surrounding the sinuses of vibrissae, medium sized arteries, skin, retina, kidney, and interscapular brown fat. Strain differences at this locus may lead to altered susceptibility to cardiac calcinosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam29 A T 8: 55,872,867 L184* probably null Het
Ap1g1 C T 8: 109,849,622 A432V probably damaging Het
Atrn C T 2: 130,972,282 T716I probably damaging Het
B020004J07Rik T A 4: 101,835,573 Y410F probably damaging Het
Bahd1 C A 2: 118,917,045 Q382K possibly damaging Het
Barhl2 A G 5: 106,455,525 V256A probably benign Het
Camta2 A G 11: 70,670,685 F1113L probably damaging Het
Cdh23 G T 10: 60,650,122 T38K probably benign Het
Cmtm3 T C 8: 104,344,805 L111P probably damaging Het
Col27a1 T C 4: 63,318,255 probably benign Het
Cyp2c29 G A 19: 39,290,847 G96D possibly damaging Het
Flt1 C A 5: 147,639,248 R650L probably benign Het
Fpr1 T A 17: 17,876,653 E358V probably benign Het
Ggnbp2 A T 11: 84,862,286 N42K possibly damaging Het
Gldc T C 19: 30,099,899 T958A probably benign Het
Gm3573 A G 14: 42,187,495 probably null Het
Hspbp1 T C 7: 4,681,841 probably benign Het
Jhy G T 9: 40,917,175 Y478* probably null Het
Kiz A G 2: 146,870,770 E118G probably damaging Het
Klhdc1 A G 12: 69,253,718 Y144C probably benign Het
Lamc3 A T 2: 31,920,662 Y848F probably benign Het
Mixl1 T C 1: 180,694,704 E204G probably benign Het
Muc2 T A 7: 141,751,857 C202S probably damaging Het
Nfatc1 T C 18: 80,697,898 S282G probably damaging Het
Olfr1465 T C 19: 13,313,938 M116V probably damaging Het
Olfr175-ps1 C A 16: 58,824,328 C127F probably benign Het
Olfr531 T A 7: 140,400,662 Y128F probably damaging Het
Orc2 A T 1: 58,466,122 probably benign Het
Pcdhb10 T C 18: 37,412,690 I273T probably benign Het
Pdzph1 G A 17: 58,973,391 T632I probably benign Het
Phf1 A G 17: 26,935,626 Y225C probably damaging Het
Prcp T C 7: 92,901,174 F60L probably damaging Het
Psg21 C T 7: 18,655,036 V44I possibly damaging Het
Ptgdr C T 14: 44,858,614 V214M probably damaging Het
Pth1r G A 9: 110,727,680 R181W probably damaging Het
Ralgapb A G 2: 158,444,665 I343M probably damaging Het
Retreg1 C T 15: 25,895,118 Q128* probably null Het
Rrbp1 T C 2: 143,949,759 probably benign Het
Skint5 T A 4: 113,731,076 M726L unknown Het
Slc6a18 T C 13: 73,669,995 Y301C probably damaging Het
Slc8a3 G A 12: 81,204,156 probably benign Het
Tacr3 C A 3: 134,829,471 Q67K probably damaging Het
Tfrc A T 16: 32,624,822 K534* probably null Het
Timp3 T A 10: 86,338,451 M67K probably benign Het
Tmem120a C T 5: 135,736,774 E179K probably damaging Het
Tomm40l G A 1: 171,221,647 probably benign Het
Tubal3 A G 13: 3,930,554 R89G probably benign Het
Wdr35 A T 12: 9,024,297 N976I probably benign Het
Zfp292 T C 4: 34,805,416 T2543A probably damaging Het
Zfp976 T A 7: 42,612,529 H628L unknown Het
Zmynd8 A G 2: 165,833,405 V301A probably damaging Het
Other mutations in Abcc6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01589:Abcc6 APN 7 46002672 splice site probably benign
IGL01731:Abcc6 APN 7 46002610 missense possibly damaging 0.71
IGL01743:Abcc6 APN 7 45996814 missense probably benign 0.02
IGL01757:Abcc6 APN 7 45990281 splice site probably benign
IGL01895:Abcc6 APN 7 46029058 missense possibly damaging 0.88
IGL01942:Abcc6 APN 7 45986573 missense possibly damaging 0.89
IGL02251:Abcc6 APN 7 45977416 missense probably damaging 1.00
IGL02277:Abcc6 APN 7 46001061 missense probably benign 0.00
IGL03063:Abcc6 APN 7 46016432 missense probably benign
IGL03092:Abcc6 APN 7 45986470 missense probably damaging 1.00
IGL03251:Abcc6 APN 7 45982237 unclassified probably benign
R0057:Abcc6 UTSW 7 46020143 missense probably benign 0.03
R0944:Abcc6 UTSW 7 46015505 missense possibly damaging 0.81
R1019:Abcc6 UTSW 7 46014107 missense possibly damaging 0.77
R1183:Abcc6 UTSW 7 45985253 missense probably damaging 0.99
R1543:Abcc6 UTSW 7 46016504 missense probably benign 0.01
R1550:Abcc6 UTSW 7 46005244 missense probably benign 0.25
R1725:Abcc6 UTSW 7 45992357 missense possibly damaging 0.76
R1907:Abcc6 UTSW 7 46014169 missense probably benign 0.04
R1908:Abcc6 UTSW 7 46020134 splice site probably null
R1909:Abcc6 UTSW 7 46020134 splice site probably null
R2138:Abcc6 UTSW 7 45981051 missense probably damaging 1.00
R2145:Abcc6 UTSW 7 45998741 missense probably benign 0.01
R2402:Abcc6 UTSW 7 46015575 missense probably benign 0.04
R3983:Abcc6 UTSW 7 45995289 missense probably benign
R4013:Abcc6 UTSW 7 46018680 missense probably benign 0.01
R4051:Abcc6 UTSW 7 45986563 missense probably damaging 1.00
R4052:Abcc6 UTSW 7 45986563 missense probably damaging 1.00
R4208:Abcc6 UTSW 7 45986563 missense probably damaging 1.00
R4362:Abcc6 UTSW 7 45998832 splice site probably benign
R4385:Abcc6 UTSW 7 45995328 missense possibly damaging 0.93
R4399:Abcc6 UTSW 7 46002607 missense probably benign
R4479:Abcc6 UTSW 7 46005239 missense possibly damaging 0.60
R4480:Abcc6 UTSW 7 46005239 missense possibly damaging 0.60
R4780:Abcc6 UTSW 7 45996691 missense probably benign
R4791:Abcc6 UTSW 7 45982160 missense probably benign 0.00
R4895:Abcc6 UTSW 7 45980990 missense possibly damaging 0.95
R4898:Abcc6 UTSW 7 45989687 missense probably damaging 0.96
R4905:Abcc6 UTSW 7 45995225 missense probably benign
R4941:Abcc6 UTSW 7 46012523 missense probably benign 0.00
R5040:Abcc6 UTSW 7 46020154 missense probably benign 0.04
R5128:Abcc6 UTSW 7 45989646 missense probably benign 0.00
R5284:Abcc6 UTSW 7 45981059 missense probably benign 0.05
R5328:Abcc6 UTSW 7 45992311 missense probably benign 0.01
R5459:Abcc6 UTSW 7 45982183 missense probably benign 0.00
R5543:Abcc6 UTSW 7 45989536 critical splice donor site probably null
R6178:Abcc6 UTSW 7 46029044 missense probably benign
R6228:Abcc6 UTSW 7 46030256 missense probably benign 0.02
R6532:Abcc6 UTSW 7 45977379 missense probably damaging 1.00
R6605:Abcc6 UTSW 7 45981057 missense probably damaging 1.00
R7000:Abcc6 UTSW 7 46005522 missense possibly damaging 0.60
R7067:Abcc6 UTSW 7 46018690 missense probably benign
R7553:Abcc6 UTSW 7 45999121 missense probably damaging 1.00
R7597:Abcc6 UTSW 7 45995237 missense probably damaging 1.00
R7718:Abcc6 UTSW 7 45977392 missense possibly damaging 0.91
R7781:Abcc6 UTSW 7 46005606 missense probably damaging 1.00
R7798:Abcc6 UTSW 7 45976853 nonsense probably null
X0065:Abcc6 UTSW 7 46020197 missense probably damaging 0.99
Posted On2015-04-16