Incidental Mutation 'R1691:Atp7b'
ID 191791
Institutional Source Beutler Lab
Gene Symbol Atp7b
Ensembl Gene ENSMUSG00000006567
Gene Name ATPase, Cu++ transporting, beta polypeptide
Synonyms Atp7a, WND, Wilson protein
MMRRC Submission 039724-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.636) question?
Stock # R1691 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 22482801-22550321 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 22501039 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 955 (Y955H)
Ref Sequence ENSEMBL: ENSMUSP00000006742 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006742] [ENSMUST00000110738]
AlphaFold Q64446
Predicted Effect possibly damaging
Transcript: ENSMUST00000006742
AA Change: Y955H

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000006742
Gene: ENSMUSG00000006567
AA Change: Y955H

DomainStartEndE-ValueType
Pfam:HMA 71 132 8.8e-14 PFAM
Pfam:HMA 156 217 6.6e-13 PFAM
Pfam:HMA 271 329 7.4e-13 PFAM
Pfam:HMA 364 425 1.1e-10 PFAM
Pfam:HMA 493 554 2.3e-14 PFAM
Pfam:HMA 569 630 3.1e-15 PFAM
transmembrane domain 656 675 N/A INTRINSIC
Pfam:E1-E2_ATPase 770 1018 3.3e-60 PFAM
Pfam:Hydrolase 1023 1276 1.3e-67 PFAM
Pfam:HAD 1026 1273 4.6e-10 PFAM
Pfam:Hydrolase_3 1243 1308 5.1e-7 PFAM
transmembrane domain 1322 1344 N/A INTRINSIC
low complexity region 1353 1370 N/A INTRINSIC
low complexity region 1418 1437 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110738
AA Change: Y840H

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000106366
Gene: ENSMUSG00000006567
AA Change: Y840H

DomainStartEndE-ValueType
Pfam:HMA 59 120 1.2e-13 PFAM
Pfam:HMA 144 205 9.7e-12 PFAM
PDB:2AW0|A 259 314 6e-6 PDB
Pfam:HMA 378 439 1.6e-13 PFAM
Pfam:HMA 454 515 1.5e-15 PFAM
transmembrane domain 541 560 N/A INTRINSIC
Pfam:E1-E2_ATPase 656 904 4.6e-50 PFAM
Pfam:Hydrolase 908 1161 6.6e-76 PFAM
Pfam:HAD 911 1158 1.5e-15 PFAM
Pfam:Hydrolase_3 1128 1193 8.5e-7 PFAM
transmembrane domain 1207 1229 N/A INTRINSIC
low complexity region 1238 1255 N/A INTRINSIC
low complexity region 1303 1322 N/A INTRINSIC
Meta Mutation Damage Score 0.1356 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the P-type cation transport ATPase family and encodes a protein with several membrane-spanning domains, an ATPase consensus sequence, a hinge domain, a phosphorylation site, and at least 2 putative copper-binding sites. This protein functions as a monomer, exporting copper out of the cells, such as the efflux of hepatic copper into the bile. Alternate transcriptional splice variants, encoding different isoforms with distinct cellular localizations, have been characterized. Mutations in this gene have been associated with Wilson disease (WD). [provided by RefSeq, Jul 2008]
PHENOTYPE: Targeted disruption of the mouse gene results in copper accumulation in various organs, primarily the liver, kidney and brain, and a form of liver cirrhosis that resembles Wilson disease in humans and the 'toxic milk' phenotype in mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl3 T C 7: 82,148,814 (GRCm39) S283P probably damaging Het
Adck2 T A 6: 39,551,902 (GRCm39) L223* probably null Het
Ank T C 15: 27,591,030 (GRCm39) W390R probably damaging Het
Ano5 T C 7: 51,240,327 (GRCm39) Y752H probably damaging Het
Apcs T A 1: 172,722,160 (GRCm39) D62V probably damaging Het
Atad5 A G 11: 79,986,358 (GRCm39) T482A probably benign Het
Ccdc13 A T 9: 121,654,134 (GRCm39) probably null Het
Ccdc157 G A 11: 4,099,030 (GRCm39) P159S probably benign Het
Cdhr3 C T 12: 33,132,246 (GRCm39) V126M probably damaging Het
Cdr1 T C X: 60,227,780 (GRCm39) D462G possibly damaging Het
Cisd1 A G 10: 71,180,559 (GRCm39) V9A probably benign Het
Col19a1 T C 1: 24,576,022 (GRCm39) R107G unknown Het
Col1a2 C A 6: 4,536,038 (GRCm39) H972Q unknown Het
Col3a1 T A 1: 45,387,776 (GRCm39) probably benign Het
Dbnl A G 11: 5,747,174 (GRCm39) S235G probably null Het
Dock4 T A 12: 40,775,754 (GRCm39) S566T probably benign Het
Efcab6 T C 15: 83,817,407 (GRCm39) D722G probably benign Het
Esyt1 T C 10: 128,361,403 (GRCm39) Q97R probably benign Het
Fat2 G A 11: 55,202,678 (GRCm39) T132I probably damaging Het
Fgd2 C T 17: 29,597,918 (GRCm39) Q618* probably null Het
Flnc T A 6: 29,441,213 (GRCm39) V389E probably benign Het
Garnl3 A T 2: 32,887,675 (GRCm39) Y778* probably null Het
Gpaa1 A T 15: 76,216,416 (GRCm39) Y45F probably damaging Het
Grid1 A T 14: 35,174,286 (GRCm39) I643F probably damaging Het
Gsdmc2 T C 15: 63,705,314 (GRCm39) D133G probably damaging Het
Hp T C 8: 110,302,204 (GRCm39) D248G probably benign Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Ifna13 T C 4: 88,562,291 (GRCm39) D111G probably benign Het
Il9r T A 11: 32,141,829 (GRCm39) Q309L possibly damaging Het
Insyn2a C T 7: 134,520,015 (GRCm39) A172T probably damaging Het
Ints1 A T 5: 139,754,687 (GRCm39) D617E probably damaging Het
Kcnj12 A T 11: 60,961,103 (GRCm39) N467I possibly damaging Het
Kmt2e T A 5: 23,669,847 (GRCm39) D111E probably damaging Het
Lama4 A G 10: 38,956,559 (GRCm39) K1161E probably benign Het
Lamc1 C T 1: 153,122,995 (GRCm39) D732N probably benign Het
Larp1 A G 11: 57,938,874 (GRCm39) T517A probably benign Het
Lrp12 A G 15: 39,735,661 (GRCm39) I757T probably damaging Het
Max T C 12: 77,000,046 (GRCm39) D23G possibly damaging Het
Nars1 A T 18: 64,649,485 (GRCm39) probably null Het
Nipsnap3a G A 4: 52,994,185 (GRCm39) D91N probably null Het
Nphp3 A G 9: 103,880,010 (GRCm39) T11A probably benign Het
Nr2c2 C A 6: 92,133,673 (GRCm39) T226K probably damaging Het
Nrxn1 A G 17: 90,469,717 (GRCm39) I1288T probably damaging Het
Nt5c1b C T 12: 10,425,537 (GRCm39) T360I possibly damaging Het
Ofcc1 C T 13: 40,362,305 (GRCm39) G206R probably benign Het
Or10a3b A G 7: 108,444,348 (GRCm39) Y290H possibly damaging Het
Or13a21 A T 7: 139,998,855 (GRCm39) L277Q probably damaging Het
Or4e1 A T 14: 52,701,288 (GRCm39) H59Q possibly damaging Het
Or4k37 G A 2: 111,159,198 (GRCm39) V145I probably benign Het
Or6d14 A G 6: 116,533,538 (GRCm39) T51A probably benign Het
Or9i1b C T 19: 13,896,783 (GRCm39) T133I probably benign Het
Pcsk1 A G 13: 75,280,344 (GRCm39) D723G possibly damaging Het
Phrf1 C A 7: 140,841,787 (GRCm39) Y715* probably null Het
Pigm T C 1: 172,204,354 (GRCm39) V30A probably benign Het
Pkd1l2 A T 8: 117,783,158 (GRCm39) F721I possibly damaging Het
Pla2g15 A G 8: 106,881,581 (GRCm39) D70G possibly damaging Het
Prl7d1 A T 13: 27,893,365 (GRCm39) I182N probably damaging Het
Prss23 T C 7: 89,159,922 (GRCm39) K49R probably benign Het
Rps6 A T 4: 86,775,046 (GRCm39) D19E probably benign Het
Slco6d1 A T 1: 98,435,292 (GRCm39) H669L probably benign Het
Svil G T 18: 5,056,336 (GRCm39) C490F probably benign Het
Tom1 T C 8: 75,778,227 (GRCm39) I103T probably damaging Het
Trim10 T A 17: 37,187,791 (GRCm39) Y336N probably damaging Het
Trim43c G T 9: 88,722,752 (GRCm39) V133F probably damaging Het
Tvp23a A G 16: 10,246,551 (GRCm39) L78P possibly damaging Het
Ugt2b38 T A 5: 87,571,991 (GRCm39) I14L probably benign Het
Unc5a A C 13: 55,150,737 (GRCm39) M520L probably damaging Het
Vmn1r174 T A 7: 23,453,337 (GRCm39) M1K probably null Het
Vmn2r58 C T 7: 41,486,913 (GRCm39) G661R possibly damaging Het
Vps41 A C 13: 19,025,413 (GRCm39) D471A probably damaging Het
Zbtb14 C A 17: 69,695,497 (GRCm39) F398L probably damaging Het
Zfp462 T A 4: 55,013,489 (GRCm39) F1818L possibly damaging Het
Zp3 G A 5: 136,009,135 (GRCm39) E50K possibly damaging Het
Other mutations in Atp7b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00932:Atp7b APN 8 22,501,114 (GRCm39) missense possibly damaging 0.91
IGL00981:Atp7b APN 8 22,517,543 (GRCm39) splice site probably null
IGL01600:Atp7b APN 8 22,517,541 (GRCm39) splice site probably null
IGL01713:Atp7b APN 8 22,518,589 (GRCm39) missense probably damaging 1.00
IGL01778:Atp7b APN 8 22,484,844 (GRCm39) missense probably benign 0.42
IGL01926:Atp7b APN 8 22,501,797 (GRCm39) missense probably damaging 0.98
IGL02312:Atp7b APN 8 22,484,786 (GRCm39) missense probably damaging 0.99
IGL02562:Atp7b APN 8 22,518,101 (GRCm39) missense probably benign
IGL02573:Atp7b APN 8 22,512,486 (GRCm39) missense probably benign 0.00
IGL02603:Atp7b APN 8 22,484,792 (GRCm39) missense possibly damaging 0.88
IGL02622:Atp7b APN 8 22,518,454 (GRCm39) missense possibly damaging 0.69
IGL02721:Atp7b APN 8 22,512,493 (GRCm39) missense probably benign 0.00
IGL03145:Atp7b APN 8 22,508,159 (GRCm39) missense probably damaging 1.00
daffodil UTSW 8 22,488,282 (GRCm39) missense probably damaging 1.00
menace UTSW 8 22,512,381 (GRCm39) missense probably damaging 0.97
PIT4131001:Atp7b UTSW 8 22,484,672 (GRCm39) missense probably damaging 1.00
R0023:Atp7b UTSW 8 22,501,089 (GRCm39) missense probably damaging 1.00
R0046:Atp7b UTSW 8 22,550,011 (GRCm39) missense probably benign 0.00
R0128:Atp7b UTSW 8 22,518,188 (GRCm39) missense possibly damaging 0.47
R0130:Atp7b UTSW 8 22,518,188 (GRCm39) missense possibly damaging 0.47
R0325:Atp7b UTSW 8 22,518,467 (GRCm39) missense probably benign 0.22
R0412:Atp7b UTSW 8 22,485,675 (GRCm39) splice site probably null
R0856:Atp7b UTSW 8 22,487,647 (GRCm39) missense probably damaging 1.00
R0906:Atp7b UTSW 8 22,517,842 (GRCm39) missense probably benign
R0989:Atp7b UTSW 8 22,518,710 (GRCm39) missense possibly damaging 0.51
R1377:Atp7b UTSW 8 22,501,801 (GRCm39) missense probably benign 0.17
R1517:Atp7b UTSW 8 22,487,374 (GRCm39) missense probably damaging 1.00
R1521:Atp7b UTSW 8 22,517,689 (GRCm39) missense probably damaging 0.96
R1529:Atp7b UTSW 8 22,518,740 (GRCm39) missense possibly damaging 0.87
R1743:Atp7b UTSW 8 22,496,403 (GRCm39) missense probably damaging 1.00
R1815:Atp7b UTSW 8 22,501,667 (GRCm39) missense possibly damaging 0.80
R2008:Atp7b UTSW 8 22,517,996 (GRCm39) missense probably damaging 1.00
R2133:Atp7b UTSW 8 22,501,093 (GRCm39) missense probably damaging 1.00
R2155:Atp7b UTSW 8 22,503,600 (GRCm39) missense possibly damaging 0.69
R2182:Atp7b UTSW 8 22,504,563 (GRCm39) missense probably damaging 0.99
R2256:Atp7b UTSW 8 22,488,282 (GRCm39) missense probably damaging 1.00
R2257:Atp7b UTSW 8 22,488,282 (GRCm39) missense probably damaging 1.00
R2274:Atp7b UTSW 8 22,510,848 (GRCm39) missense probably benign 0.20
R2475:Atp7b UTSW 8 22,484,792 (GRCm39) missense possibly damaging 0.88
R2906:Atp7b UTSW 8 22,501,570 (GRCm39) missense probably damaging 1.00
R2907:Atp7b UTSW 8 22,501,570 (GRCm39) missense probably damaging 1.00
R3421:Atp7b UTSW 8 22,518,686 (GRCm39) missense probably damaging 1.00
R3422:Atp7b UTSW 8 22,518,686 (GRCm39) missense probably damaging 1.00
R3688:Atp7b UTSW 8 22,494,246 (GRCm39) missense probably damaging 1.00
R3945:Atp7b UTSW 8 22,510,880 (GRCm39) missense probably benign 0.02
R4235:Atp7b UTSW 8 22,501,039 (GRCm39) missense possibly damaging 0.90
R4700:Atp7b UTSW 8 22,490,137 (GRCm39) missense probably benign 0.00
R4701:Atp7b UTSW 8 22,490,137 (GRCm39) missense probably benign 0.00
R4877:Atp7b UTSW 8 22,518,617 (GRCm39) missense probably damaging 0.98
R4962:Atp7b UTSW 8 22,510,901 (GRCm39) missense probably damaging 1.00
R5009:Atp7b UTSW 8 22,517,714 (GRCm39) missense possibly damaging 0.88
R5016:Atp7b UTSW 8 22,505,885 (GRCm39) splice site probably null
R5038:Atp7b UTSW 8 22,518,472 (GRCm39) missense possibly damaging 0.67
R5438:Atp7b UTSW 8 22,504,570 (GRCm39) missense probably benign
R5467:Atp7b UTSW 8 22,501,570 (GRCm39) missense probably damaging 1.00
R5468:Atp7b UTSW 8 22,549,986 (GRCm39) critical splice donor site probably null
R5512:Atp7b UTSW 8 22,502,755 (GRCm39) missense probably benign 0.20
R5563:Atp7b UTSW 8 22,518,730 (GRCm39) missense possibly damaging 0.82
R5751:Atp7b UTSW 8 22,508,144 (GRCm39) missense probably damaging 1.00
R5773:Atp7b UTSW 8 22,517,879 (GRCm39) missense probably benign
R5941:Atp7b UTSW 8 22,487,512 (GRCm39) missense probably damaging 0.98
R6227:Atp7b UTSW 8 22,510,841 (GRCm39) missense possibly damaging 0.63
R6265:Atp7b UTSW 8 22,505,943 (GRCm39) nonsense probably null
R6290:Atp7b UTSW 8 22,510,836 (GRCm39) missense probably damaging 1.00
R6368:Atp7b UTSW 8 22,510,771 (GRCm39) splice site probably null
R6647:Atp7b UTSW 8 22,518,494 (GRCm39) missense probably damaging 1.00
R6788:Atp7b UTSW 8 22,494,391 (GRCm39) missense probably benign 0.37
R6830:Atp7b UTSW 8 22,512,381 (GRCm39) missense probably damaging 0.97
R6886:Atp7b UTSW 8 22,518,706 (GRCm39) missense probably benign 0.01
R6928:Atp7b UTSW 8 22,484,828 (GRCm39) missense probably benign
R6965:Atp7b UTSW 8 22,518,101 (GRCm39) missense probably benign
R7203:Atp7b UTSW 8 22,487,351 (GRCm39) missense probably damaging 1.00
R7222:Atp7b UTSW 8 22,512,394 (GRCm39) nonsense probably null
R7344:Atp7b UTSW 8 22,487,515 (GRCm39) missense probably damaging 1.00
R7384:Atp7b UTSW 8 22,512,331 (GRCm39) missense probably benign 0.01
R7449:Atp7b UTSW 8 22,501,865 (GRCm39) missense probably damaging 0.98
R7451:Atp7b UTSW 8 22,504,700 (GRCm39) nonsense probably null
R7607:Atp7b UTSW 8 22,501,522 (GRCm39) missense probably damaging 1.00
R8140:Atp7b UTSW 8 22,518,576 (GRCm39) missense probably damaging 1.00
R8160:Atp7b UTSW 8 22,487,575 (GRCm39) missense probably damaging 0.98
R8349:Atp7b UTSW 8 22,503,556 (GRCm39) missense probably damaging 1.00
R8421:Atp7b UTSW 8 22,518,487 (GRCm39) missense probably benign 0.01
R8449:Atp7b UTSW 8 22,503,556 (GRCm39) missense probably damaging 1.00
R8749:Atp7b UTSW 8 22,518,334 (GRCm39) missense probably damaging 0.96
R8989:Atp7b UTSW 8 22,510,911 (GRCm39) missense probably benign 0.06
R9210:Atp7b UTSW 8 22,487,406 (GRCm39) missense probably damaging 1.00
R9353:Atp7b UTSW 8 22,517,890 (GRCm39) missense possibly damaging 0.78
R9462:Atp7b UTSW 8 22,490,160 (GRCm39) missense probably damaging 0.99
R9485:Atp7b UTSW 8 22,502,778 (GRCm39) missense probably damaging 0.99
Z1176:Atp7b UTSW 8 22,518,730 (GRCm39) missense probably benign 0.07
Z1177:Atp7b UTSW 8 22,484,893 (GRCm39) missense probably benign
Predicted Primers
Posted On 2014-05-14