Mutagenetix > Incidental Mutation

Incidental Mutation 'R3945:Atp7b'

307654

Institutional Source

Beutler Lab

Gene Symbol

Atp7b

Ensembl Gene

ENSMUSG00000006567

Gene Name

ATPase, Cu++ transporting, beta polypeptide

Synonyms

Atp7a, WND, Wilson protein

MMRRC Submission

040926-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.636) question?

Stock #

R3945 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

22482801-22550321 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 22510880 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 422 (E422G)

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: E537G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000006742
Gene: ENSMUSG00000006567
AA Change: E537G

Domain	Start	End	E-Value	Type
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: E422G

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000106366
Gene: ENSMUSG00000006567
AA Change: E422G

Domain	Start	End	E-Value	Type
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

0.1032

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

100% (54/54)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	T	C	15: 81,949,601 (GRCm39)	L1166P	probably damaging	Het
Actn4	T	C	7: 28,611,661 (GRCm39)		probably null	Het
Adamts17	A	T	7: 66,770,687 (GRCm39)	E905V	probably benign	Het
Adck5	A	G	15: 76,479,400 (GRCm39)	N485S	probably damaging	Het
Agr3	C	A	12: 35,997,512 (GRCm39)		probably benign	Het
Ankrd12	G	A	17: 66,283,098 (GRCm39)	T1921I	probably damaging	Het
Ascl2	T	C	7: 142,521,708 (GRCm39)	S247G	probably benign	Het
Bltp2	T	C	11: 78,180,790 (GRCm39)	I2229T	probably damaging	Het
C630050I24Rik	C	T	8: 107,845,894 (GRCm39)	R15*	probably null	Het
Cabin1	T	G	10: 75,581,093 (GRCm39)	Q411P	probably damaging	Het
Chrne	T	C	11: 70,507,869 (GRCm39)	I277V	possibly damaging	Het
Coch	A	G	12: 51,648,595 (GRCm39)		probably null	Het
Corin	A	G	5: 72,515,767 (GRCm39)	V429A	probably damaging	Het
Cpa3	A	T	3: 20,279,281 (GRCm39)	N219K	probably damaging	Het
Creb3l1	T	C	2: 91,821,556 (GRCm39)	E273G	probably damaging	Het
Csmd1	A	C	8: 15,960,619 (GRCm39)		probably null	Het
Ddx59	A	G	1: 136,362,356 (GRCm39)	D527G	probably damaging	Het
Defa25	G	A	8: 21,574,506 (GRCm39)	V17I	probably null	Het
Efs	A	G	14: 55,158,108 (GRCm39)		probably benign	Het
Ern2	A	G	7: 121,775,753 (GRCm39)	M447T	probably benign	Het
Fgfr2	C	T	7: 129,779,485 (GRCm39)	E596K	possibly damaging	Het
Filip1	T	C	9: 79,725,649 (GRCm39)	K990R	probably benign	Het
Ipo8	T	A	6: 148,719,615 (GRCm39)	Q110L	probably damaging	Het
Kank4	T	A	4: 98,659,517 (GRCm39)	I854F	probably damaging	Het
Mst1	G	A	9: 107,962,052 (GRCm39)	C681Y	probably damaging	Het
Nr2c2	C	T	6: 92,140,119 (GRCm39)	R464W	probably damaging	Het
Or1s2	A	G	19: 13,758,786 (GRCm39)	E270G	probably benign	Het
Or4f4b	C	T	2: 111,314,032 (GRCm39)	Q86*	probably null	Het
Pde11a	T	C	2: 75,906,275 (GRCm39)		probably benign	Het
Ptprq	A	G	10: 107,522,253 (GRCm39)		probably benign	Het
Rcbtb1	G	A	14: 59,462,225 (GRCm39)		probably null	Het
Rpl37	G	A	15: 5,147,176 (GRCm39)	R72H	probably benign	Het
Samd9l	A	T	6: 3,377,029 (GRCm39)	S77R	possibly damaging	Het
Sin3b	A	G	8: 73,460,067 (GRCm39)	D218G	possibly damaging	Het
Slc22a23	A	G	13: 34,367,109 (GRCm39)	I633T	probably damaging	Het
Spen	T	C	4: 141,204,664 (GRCm39)	D1321G	unknown	Het
Ssh2	T	C	11: 77,345,494 (GRCm39)	S1160P	possibly damaging	Het
Synrg	T	A	11: 83,914,232 (GRCm39)	D952E	probably damaging	Het
Tigd3	A	G	19: 5,942,461 (GRCm39)	F223S	probably damaging	Het
Trim66	G	A	7: 109,071,475 (GRCm39)	T608I	possibly damaging	Het
Trmt13	A	G	3: 116,375,167 (GRCm39)	F447S	probably damaging	Het
Trpc2	T	C	7: 101,737,486 (GRCm39)	I800T	possibly damaging	Het
Ugt3a1	A	T	15: 9,370,184 (GRCm39)	I443F	possibly damaging	Het
Vamp2	C	A	11: 68,980,000 (GRCm39)	P24Q	unknown	Het
Vmn1r113	A	G	7: 20,521,637 (GRCm39)	Y143C	probably benign	Het
Vmn1r14	T	A	6: 57,211,254 (GRCm39)	N277K	probably benign	Het
Vmn1r181	T	A	7: 23,683,577 (GRCm39)	V14E	probably damaging	Het
Wdfy4	A	T	14: 32,688,352 (GRCm39)	I3086N	probably damaging	Het
Zfp988	A	C	4: 147,417,242 (GRCm39)	K559Q	probably benign	Het

Other mutations in Atp7b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

PCR Primer
(F):5'- CCACAGACTGTCTTCTCTAGAG -3'
(R):5'- CACCCAGCCCATTTTGAGAG -3'

Sequencing Primer
(F):5'- ACAGACTGTCTTCTCTAGAGCAGTG -3'
(R):5'- ACCCAGCCCATTTTGAGAGTATTG -3'

Posted On

2015-04-17