Incidental Mutation 'R4700:Atp7b'
ID 355922
Institutional Source Beutler Lab
Gene Symbol Atp7b
Ensembl Gene ENSMUSG00000006567
Gene Name ATPase, Cu++ transporting, beta polypeptide
Synonyms Atp7a, WND, Wilson protein
MMRRC Submission 041948-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.636) question?
Stock # R4700 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 22482801-22550321 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 22490137 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 1044 (S1044T)
Ref Sequence ENSEMBL: ENSMUSP00000106366 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006742] [ENSMUST00000110738]
AlphaFold Q64446
Predicted Effect probably benign
Transcript: ENSMUST00000006742
AA Change: S1159T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000006742
Gene: ENSMUSG00000006567
AA Change: S1159T

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: S1044T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000106366
Gene: ENSMUSG00000006567
AA Change: S1044T

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 0.1768 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 97% (127/131)
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: 112 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530084C06Rik A G 13: 31,742,795 (GRCm39) probably benign Het
Abca13 A G 11: 9,242,306 (GRCm39) T1390A possibly damaging Het
Abca14 T A 7: 119,911,928 (GRCm39) probably null Het
Abca8a A C 11: 109,961,308 (GRCm39) V538G probably damaging Het
Acy1 C T 9: 106,310,782 (GRCm39) G329R probably benign Het
Adamts17 T C 7: 66,691,636 (GRCm39) C607R probably damaging Het
Adamts20 A T 15: 94,292,503 (GRCm39) C202* probably null Het
Adcy5 A G 16: 35,099,586 (GRCm39) N712S possibly damaging Het
Ahnak A G 19: 8,982,045 (GRCm39) K1110E probably benign Het
Anks6 T A 4: 47,033,127 (GRCm39) H578L possibly damaging Het
Appl1 C A 14: 26,647,928 (GRCm39) L626F probably benign Het
Arl1 A G 10: 88,566,499 (GRCm39) probably benign Het
Atf4 T A 15: 80,141,618 (GRCm39) I336K probably damaging Het
Carm1 A G 9: 21,498,480 (GRCm39) N466S probably benign Het
Cbl A G 9: 44,084,677 (GRCm39) S153P probably damaging Het
Ccdc159 A G 9: 21,839,027 (GRCm39) probably null Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,619,782 (GRCm39) probably benign Het
Cdc7 T C 5: 107,121,707 (GRCm39) F207L probably benign Het
Celsr2 T C 3: 108,304,547 (GRCm39) R2271G probably benign Het
Cep162 T C 9: 87,088,915 (GRCm39) Q989R probably damaging Het
Cep89 A G 7: 35,137,862 (GRCm39) T749A probably benign Het
Clcn5 T C X: 7,032,591 (GRCm39) probably null Het
Clu A T 14: 66,217,313 (GRCm39) Y382F probably benign Het
Cnih4 A G 1: 180,993,808 (GRCm39) probably benign Het
Crb1 A G 1: 139,126,509 (GRCm39) L1340P probably damaging Het
Ddx4 T C 13: 112,750,269 (GRCm39) T421A probably damaging Het
Dennd5a T C 7: 109,520,405 (GRCm39) E484G probably benign Het
Dsg4 G T 18: 20,589,965 (GRCm39) V372L possibly damaging Het
Dyrk2 T C 10: 118,704,191 (GRCm39) D21G probably benign Het
E2f1 C G 2: 154,405,942 (GRCm39) G144R probably damaging Het
Epb41l4a A T 18: 33,935,560 (GRCm39) probably null Het
F10 G T 8: 13,089,621 (GRCm39) V67F possibly damaging Het
Fat3 A G 9: 15,942,469 (GRCm39) I1301T probably damaging Het
Filip1l A G 16: 57,391,058 (GRCm39) T549A probably benign Het
Flt4 C A 11: 49,517,271 (GRCm39) probably benign Het
Fndc1 G A 17: 7,990,312 (GRCm39) T1128I unknown Het
Fos T C 12: 85,522,936 (GRCm39) S283P probably benign Het
Fryl T C 5: 73,222,881 (GRCm39) Y1900C possibly damaging Het
Fsip2 C A 2: 82,817,373 (GRCm39) Q4369K probably benign Het
Gad2 A T 2: 22,563,982 (GRCm39) H395L probably damaging Het
Grm2 T A 9: 106,531,130 (GRCm39) I120F probably benign Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Igsf10 A T 3: 59,227,751 (GRCm39) I1974N probably damaging Het
Il23r T C 6: 67,450,834 (GRCm39) N215S probably damaging Het
Jph1 T A 1: 17,161,928 (GRCm39) M245L possibly damaging Het
Loxl4 G A 19: 42,596,052 (GRCm39) H147Y probably benign Het
Lsg1 A G 16: 30,384,267 (GRCm39) I521T probably damaging Het
Ltc4s C T 11: 50,127,908 (GRCm39) G83R probably damaging Het
Map2 A G 1: 66,449,796 (GRCm39) E173G probably damaging Het
Med29 T A 7: 28,086,352 (GRCm39) D152V possibly damaging Het
Megf8 A G 7: 25,062,940 (GRCm39) D2432G probably damaging Het
Mrpl38 G A 11: 116,025,978 (GRCm39) probably benign Het
Myh7 A G 14: 55,225,778 (GRCm39) I521T possibly damaging Het
Mylk G T 16: 34,742,805 (GRCm39) V1106L probably benign Het
Myo15b A T 11: 115,752,761 (GRCm39) D753V possibly damaging Het
Myo1g T C 11: 6,466,785 (GRCm39) probably null Het
Myrfl A G 10: 116,613,247 (GRCm39) probably null Het
Naip5 A G 13: 100,359,922 (GRCm39) V438A possibly damaging Het
Nav3 A G 10: 109,600,796 (GRCm39) V1277A probably benign Het
Nek10 T A 14: 14,842,841 (GRCm38) V182E possibly damaging Het
Ngly1 T C 14: 16,281,809 (GRCm38) V355A probably benign Het
Nol6 T C 4: 41,118,944 (GRCm39) E683G possibly damaging Het
Obsl1 A T 1: 75,480,085 (GRCm39) V487E probably damaging Het
Oc90 T A 15: 65,753,354 (GRCm39) R322W possibly damaging Het
Or1q1 C A 2: 36,887,515 (GRCm39) A231D probably benign Het
Or4f60 A G 2: 111,902,097 (GRCm39) V277A possibly damaging Het
Or52e4 A T 7: 104,705,483 (GRCm39) H10L possibly damaging Het
Or8b4 A G 9: 37,830,217 (GRCm39) E93G possibly damaging Het
Osbp2 T C 11: 3,662,160 (GRCm39) H231R probably damaging Het
Pate6 A T 9: 35,701,021 (GRCm39) C22S probably damaging Het
Pdzph1 T C 17: 59,281,541 (GRCm39) H247R probably damaging Het
Pidd1 T C 7: 141,022,162 (GRCm39) N209S probably damaging Het
Pknox1 C T 17: 31,822,286 (GRCm39) A351V probably damaging Het
Plxnd1 C A 6: 115,935,576 (GRCm39) V1737F probably damaging Het
Prkdc A T 16: 15,519,976 (GRCm39) K1138M probably damaging Het
Rad54l2 T C 9: 106,631,224 (GRCm39) D21G possibly damaging Het
Recql4 C T 15: 76,592,785 (GRCm39) C302Y probably damaging Het
Scgb2b6 T C 7: 31,318,908 (GRCm39) noncoding transcript Het
Sdc1 A G 12: 8,840,541 (GRCm39) E106G possibly damaging Het
Slc10a5 T G 3: 10,400,360 (GRCm39) Q100P probably damaging Het
Slc10a5 C A 3: 10,400,359 (GRCm39) Q100H probably damaging Het
Slc5a9 A T 4: 111,748,134 (GRCm39) L226Q possibly damaging Het
Slfn1 T C 11: 83,012,475 (GRCm39) V197A probably benign Het
Spire1 T C 18: 67,645,935 (GRCm39) M244V probably benign Het
St3gal3 C T 4: 117,817,232 (GRCm39) V141I probably benign Het
St6galnac4 G T 2: 32,477,172 (GRCm39) probably benign Het
Svep1 T C 4: 58,097,323 (GRCm39) K1407E possibly damaging Het
Tbc1d32 A G 10: 56,100,745 (GRCm39) C78R probably damaging Het
Tcstv5 T C 13: 120,411,378 (GRCm39) Y76C probably benign Het
Tln2 A G 9: 67,253,809 (GRCm39) V754A probably benign Het
Tmeff1 A T 4: 48,636,869 (GRCm39) Y189F possibly damaging Het
Tmem131l C T 3: 83,806,519 (GRCm39) A1433T probably benign Het
Tnfrsf8 T C 4: 145,029,692 (GRCm39) Y36C probably damaging Het
Trp53i11 G T 2: 93,030,245 (GRCm39) R184L probably damaging Het
Trpv1 A T 11: 73,142,110 (GRCm39) M214L possibly damaging Het
Tsnax T A 8: 125,755,533 (GRCm39) S132T probably benign Het
Ttc28 T C 5: 111,424,909 (GRCm39) L1547P probably damaging Het
Ttc3 A G 16: 94,240,100 (GRCm39) probably null Het
Tubal3 T A 13: 3,983,514 (GRCm39) D431E probably damaging Het
Ugt2b36 A T 5: 87,240,301 (GRCm39) probably null Het
Vmn1r23 A T 6: 57,903,190 (GRCm39) I196K probably benign Het
Vmn1r55 A C 7: 5,149,586 (GRCm39) L279R probably damaging Het
Vmn1r55 G T 7: 5,149,587 (GRCm39) L279M probably damaging Het
Vmn2r89 G A 14: 51,694,942 (GRCm39) G474E probably damaging Het
Vps26b T C 9: 26,926,511 (GRCm39) K163E probably damaging Het
Zfp142 A G 1: 74,609,431 (GRCm39) F1352L probably damaging Het
Zfp422 C T 6: 116,603,844 (GRCm39) E52K possibly damaging Het
Zfp423 T A 8: 88,508,338 (GRCm39) probably null Het
Zfp493 T C 13: 67,934,736 (GRCm39) F230L probably damaging Het
Zfp760 T C 17: 21,941,388 (GRCm39) C188R probably benign Het
Zfyve28 G T 5: 34,375,189 (GRCm39) T275K probably damaging Het
Znhit3 T C 11: 84,807,155 (GRCm39) N5D probably benign 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
R1691:Atp7b UTSW 8 22,501,039 (GRCm39) missense possibly damaging 0.90
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
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 PCR Primer
(F):5'- CAGAAAGGGTGACATGGTTTTC -3'
(R):5'- TTCAAGGAGAGTGTCACACAAG -3'

Sequencing Primer
(F):5'- AGGGTGACATGGTTTTCAAAAG -3'
(R):5'- AGGTTATAGTTTTCAGAGCAGTCAG -3'
Posted On 2015-10-21