Incidental Mutation 'R4877:Atp7b'
ID 374991
Institutional Source Beutler Lab
Gene Symbol Atp7b
Ensembl Gene ENSMUSG00000006567
Gene Name ATPase, Cu++ transporting, beta polypeptide
Synonyms Atp7a, WND, Wilson protein
MMRRC Submission 042486-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.636) question?
Stock # R4877 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 22482801-22550321 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 22518617 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 74 (I74F)
Ref Sequence ENSEMBL: ENSMUSP00000006742 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006742] [ENSMUST00000110738]
AlphaFold Q64446
Predicted Effect probably damaging
Transcript: ENSMUST00000006742
AA Change: I74F

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000006742
Gene: ENSMUSG00000006567
AA Change: I74F

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 possibly damaging
Transcript: ENSMUST00000110738
AA Change: I62F

PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000106366
Gene: ENSMUSG00000006567
AA Change: I62F

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 0.5329 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.8%
Validation Efficiency 100% (76/76)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 A G 11: 94,258,421 (GRCm39) Y475H probably damaging Het
Adamts12 G T 15: 11,327,787 (GRCm39) G1388V probably damaging Het
Anks6 C T 4: 47,030,795 (GRCm39) G601S probably damaging Het
Arhgap26 T C 18: 39,429,982 (GRCm39) probably null Het
Bod1l A G 5: 41,977,337 (GRCm39) Y1326H probably benign Het
Card11 T C 5: 140,871,632 (GRCm39) S690G probably damaging Het
Cbx3 A G 6: 51,459,540 (GRCm39) E169G possibly damaging Het
Cd28 A T 1: 60,808,861 (GRCm39) M192L possibly damaging Het
Chd6 T C 2: 160,871,219 (GRCm39) probably benign Het
Cyp2c69 C T 19: 39,866,056 (GRCm39) C179Y probably damaging Het
Cyp7b1 A T 3: 18,151,457 (GRCm39) V252E probably damaging Het
Dcp2 G T 18: 44,550,659 (GRCm39) G378C probably benign Het
Dip2b A T 15: 100,058,410 (GRCm39) I196L possibly damaging Het
Erbin G A 13: 103,987,346 (GRCm39) P405S probably damaging Het
Etv1 A G 12: 38,881,292 (GRCm39) probably null Het
F830104G03Rik T G 3: 56,797,917 (GRCm39) K33T unknown Het
Fbln2 C A 6: 91,210,477 (GRCm39) H140Q probably damaging Het
Fxr1 A G 3: 34,101,847 (GRCm39) T109A probably damaging Het
Gm10110 T C 14: 90,134,785 (GRCm39) noncoding transcript Het
Gm9949 C T 18: 62,317,140 (GRCm39) probably benign Het
Grin2d A G 7: 45,504,039 (GRCm39) L604P probably damaging Het
Gstcd A T 3: 132,711,314 (GRCm39) probably benign Het
Ifna16 A G 4: 88,594,681 (GRCm39) V138A probably benign Het
Itpr2 T A 6: 146,226,703 (GRCm39) N1314I probably damaging Het
Kitl T C 10: 99,916,728 (GRCm39) V177A probably damaging Het
L3mbtl1 A T 2: 162,790,488 (GRCm39) Q185L probably damaging Het
Lhx9 T A 1: 138,766,092 (GRCm39) N232I probably benign Het
Lnx1 T C 5: 74,788,784 (GRCm39) R111G probably benign Het
Lrrc41 A G 4: 115,936,602 (GRCm39) I72M probably damaging Het
Lrriq1 T A 10: 103,069,899 (GRCm39) D39V possibly damaging Het
Lyrm7 A G 11: 54,731,936 (GRCm39) probably benign Het
Lyst T A 13: 13,857,734 (GRCm39) Y2508N probably damaging Het
Masp2 A T 4: 148,687,328 (GRCm39) Y70F probably benign Het
Mc4r T C 18: 66,992,409 (GRCm39) I235V probably benign Het
Med12l G A 3: 59,152,214 (GRCm39) V1000M probably damaging Het
Morc2b T C 17: 33,357,712 (GRCm39) H20R probably benign Het
Ms4a1 A T 19: 11,231,857 (GRCm39) S173T probably damaging Het
Myh13 A C 11: 67,228,477 (GRCm39) D339A probably damaging Het
Nars1 A T 18: 64,633,643 (GRCm39) Y542* probably null Het
Nectin2 G A 7: 19,451,645 (GRCm39) T463I possibly damaging Het
Nrg4 A G 9: 55,166,679 (GRCm39) F64L probably benign Het
Nrxn1 T A 17: 91,395,605 (GRCm39) I184F probably benign Het
Nxph2 C T 2: 23,289,846 (GRCm39) P66L probably benign Het
Or10ag2 C T 2: 87,248,907 (GRCm39) Q170* probably null Het
Or2v1 C A 11: 49,025,608 (GRCm39) F196L probably damaging Het
Pard3 A T 8: 128,115,018 (GRCm39) T579S probably damaging Het
Patj A G 4: 98,457,295 (GRCm39) I48V possibly damaging Het
Paxbp1 T C 16: 90,841,199 (GRCm39) probably benign Het
Pou2f3 A T 9: 43,050,618 (GRCm39) N235K possibly damaging Het
Ppp2r2c A G 5: 37,026,214 (GRCm39) D17G probably damaging Het
Rgs8 A G 1: 153,568,633 (GRCm39) probably benign Het
Rnd3 A G 2: 51,038,762 (GRCm39) V42A probably damaging Het
Rp1l1 A G 14: 64,263,620 (GRCm39) R247G probably benign Het
Sec31b A T 19: 44,524,172 (GRCm39) V156D probably damaging Het
Slc22a2 T A 17: 12,833,702 (GRCm39) Y461N possibly damaging Het
Spag6l T C 16: 16,599,622 (GRCm39) K280R possibly damaging Het
Spata31d1a A G 13: 59,850,337 (GRCm39) L597P probably damaging Het
Srr G T 11: 74,798,606 (GRCm39) probably benign Het
Sry C G Y: 2,662,864 (GRCm39) Q265H unknown Het
Tgif1 A C 17: 71,156,700 (GRCm39) probably null Het
Tle3 A T 9: 61,280,781 (GRCm39) probably benign Het
Tubgcp4 A G 2: 121,020,343 (GRCm39) T439A probably benign Het
Twist1 C T 12: 34,008,350 (GRCm39) T125M probably damaging Het
Unc13a T A 8: 72,111,260 (GRCm39) D317V possibly damaging Het
Vmn1r227 T A 17: 20,955,407 (GRCm39) noncoding transcript Het
Vps72 G T 3: 95,025,498 (GRCm39) probably benign Het
Zfp184 T C 13: 22,144,498 (GRCm39) S735P possibly damaging Het
Zfp42 A T 8: 43,748,725 (GRCm39) C259S possibly damaging Het
Zmiz2 A G 11: 6,353,251 (GRCm39) H678R probably 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
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
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
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'- CCCATATCCTCAATCTGAAGGC -3'
(R):5'- ATGACTTTTCCTCAGCCCGAAG -3'

Sequencing Primer
(F):5'- CAAATCTGCTGCAGGTTCATGACAG -3'
(R):5'- CAGGGCAAGTGTAAAATTGCTAC -3'
Posted On 2016-03-17