Incidental Mutation 'R6265:Atp7b'
ID 506952
Institutional Source Beutler Lab
Gene Symbol Atp7b
Ensembl Gene ENSMUSG00000006567
Gene Name ATPase, Cu++ transporting, beta polypeptide
Synonyms Atp7a, WND, Wilson protein
MMRRC Submission 044438-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.636) question?
Stock # R6265 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 22482801-22550321 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 22505943 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 520 (Q520*)
Ref Sequence ENSEMBL: ENSMUSP00000106366 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006742] [ENSMUST00000110738]
AlphaFold Q64446
Predicted Effect probably null
Transcript: ENSMUST00000006742
AA Change: Q635*
SMART Domains Protein: ENSMUSP00000006742
Gene: ENSMUSG00000006567
AA Change: Q635*

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 null
Transcript: ENSMUST00000110738
AA Change: Q520*
SMART Domains Protein: ENSMUSP00000106366
Gene: ENSMUSG00000006567
AA Change: Q520*

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
Validation Efficiency 100% (65/65)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013G24Rik C T 4: 137,181,986 (GRCm39) P47L probably damaging Het
Acot1 T C 12: 84,063,687 (GRCm39) I265T probably benign Het
Amotl1 T C 9: 14,482,951 (GRCm39) D587G possibly damaging Het
Anks1b T G 10: 90,777,362 (GRCm39) D1117E probably damaging Het
Art4 T G 6: 136,831,886 (GRCm39) N85T probably damaging Het
Asb3 C A 11: 31,035,143 (GRCm39) Q462K probably benign Het
Atcay C T 10: 81,049,114 (GRCm39) E163K possibly damaging Het
Atp6v0e T C 17: 26,895,507 (GRCm39) V20A possibly damaging Het
Baat A T 4: 49,502,836 (GRCm39) D95E possibly damaging Het
Cars2 TCCCC TCCC 8: 11,579,599 (GRCm39) probably null Het
Ccdc24 G A 4: 117,728,374 (GRCm39) Q47* probably null Het
Cep170b C A 12: 112,710,993 (GRCm39) Q1488K probably damaging Het
Cldn24 A C 8: 48,275,374 (GRCm39) D66A probably benign Het
Cln5 C A 14: 103,310,663 (GRCm39) T110K probably damaging Het
Clvs2 C A 10: 33,404,511 (GRCm39) S235I possibly damaging Het
Col5a3 C T 9: 20,705,060 (GRCm39) G730R unknown Het
Crim1 C T 17: 78,677,514 (GRCm39) P905L probably benign Het
Cxxc4 T C 3: 133,963,824 (GRCm39) V356A probably benign Het
Dctn6 G T 8: 34,562,057 (GRCm39) N93K probably damaging Het
Dnah9 G A 11: 66,058,920 (GRCm39) A125V probably benign Het
Dnhd1 T C 7: 105,342,577 (GRCm39) I1307T probably benign Het
Dpy19l1 T A 9: 24,343,667 (GRCm39) I493F possibly damaging Het
Ebf2 A G 14: 67,661,509 (GRCm39) I546V probably benign Het
Fbll1 T C 11: 35,688,636 (GRCm39) E209G probably damaging Het
Foxj2 G A 6: 122,805,133 (GRCm39) A2T probably damaging Het
Foxs1 A T 2: 152,774,098 (GRCm39) C318* probably null Het
Gorab T C 1: 163,214,199 (GRCm39) T244A possibly damaging Het
Gtsf1l C A 2: 162,929,583 (GRCm39) probably benign Het
Herc1 T C 9: 66,279,298 (GRCm39) S69P probably benign Het
Hpca C T 4: 129,012,445 (GRCm39) W30* probably null Het
Ing3 C A 6: 21,953,813 (GRCm39) Q85K probably damaging Het
Klhdc8b T C 9: 108,325,624 (GRCm39) E264G probably damaging Het
Lair1 T A 7: 4,058,826 (GRCm39) probably benign Het
Lama1 T C 17: 68,057,650 (GRCm39) Y575H probably damaging Het
Lamtor2 C A 3: 88,458,020 (GRCm39) G29* probably null Het
Loxhd1 A T 18: 77,449,426 (GRCm39) D341V probably damaging Het
Lrp2 T A 2: 69,296,684 (GRCm39) D3290V probably damaging Het
Matn2 A T 15: 34,399,301 (GRCm39) D396V probably damaging Het
Me3 T A 7: 89,498,951 (GRCm39) D510E probably benign Het
Melk A G 4: 44,318,109 (GRCm39) Y170C probably damaging Het
Mgat2 T C 12: 69,231,567 (GRCm39) V47A probably benign Het
Mindy4 T C 6: 55,278,049 (GRCm39) I631T probably damaging Het
Myo5b T A 18: 74,710,511 (GRCm39) probably null Het
Myo7b A T 18: 32,131,203 (GRCm39) D521E probably damaging Het
Nlrp9b T A 7: 19,796,608 (GRCm39) F986I probably benign Het
Or8k39 A G 2: 86,563,299 (GRCm39) L219P probably damaging Het
Patj A G 4: 98,357,804 (GRCm39) D690G probably benign Het
Pias2 T C 18: 77,184,954 (GRCm39) S5P probably damaging Het
Reep4 A T 14: 70,785,143 (GRCm39) S150C probably damaging Het
Slc25a21 T C 12: 57,243,685 (GRCm39) R14G probably benign Het
Slc6a6 G C 6: 91,731,896 (GRCm39) R575T probably damaging Het
Speg T A 1: 75,383,323 (GRCm39) Y886* probably null Het
Tas2r103 A C 6: 133,013,494 (GRCm39) F191V probably damaging Het
Tbc1d19 A G 5: 53,995,266 (GRCm39) D145G probably benign Het
Tex47 T A 5: 7,355,461 (GRCm39) I214N probably damaging Het
Tnnt3 A T 7: 142,055,382 (GRCm39) D3V probably damaging Het
Trdv2-1 T G 14: 54,183,842 (GRCm39) S24A probably benign Het
Ubr4 A G 4: 139,179,951 (GRCm39) D3377G possibly damaging Het
Ugt3a1 A T 15: 9,361,665 (GRCm39) D147V probably damaging Het
Usp9y A T Y: 1,446,843 (GRCm39) D103E probably benign Homo
Vmn1r168 A G 7: 23,240,961 (GRCm39) I273V probably benign Het
Vmn2r61 T C 7: 41,915,915 (GRCm39) I176T probably benign Het
Vmn2r8 T A 5: 108,956,463 (GRCm39) D53V probably benign Het
Zbtb8os A T 4: 129,229,775 (GRCm39) probably benign Het
Zfp551 C T 7: 12,149,339 (GRCm39) R690Q 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
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
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'- TTCTACAGACAGCGTACCCC -3'
(R):5'- TGCCACAAAGAAGTCACGAG -3'

Sequencing Primer
(F):5'- TTAAAGGCAACCCAGGAAGCTG -3'
(R):5'- TCACGAGAGGAAAGCCGTAG -3'
Posted On 2018-03-15