Mutagenetix > Incidental Mutation

Incidental Mutation 'R5751:Atp7b'

446009

Institutional Source

Beutler Lab

Gene Symbol

Atp7b

Ensembl Gene

ENSMUSG00000006567

Gene Name

ATPase, Cu++ transporting, beta polypeptide

Synonyms

Atp7a, WND, Wilson protein

MMRRC Submission

043201-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.636) question?

Stock #

R5751 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

22482801-22550321 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 22508144 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 599 (V599A)

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: V599A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000006742
Gene: ENSMUSG00000006567
AA Change: V599A

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 damaging
Transcript: ENSMUST00000110738
AA Change: V484A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106366
Gene: ENSMUSG00000006567
AA Change: V484A

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

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	A	G	5: 114,368,893 (GRCm39)	T1704A	possibly damaging	Het
Adam6a	T	A	12: 113,508,447 (GRCm39)	D273E	possibly damaging	Het
Adgrv1	T	A	13: 81,670,355 (GRCm39)	L1610F	probably damaging	Het
Ago2	C	T	15: 73,000,172 (GRCm39)		probably null	Het
Apob	T	A	12: 8,062,619 (GRCm39)	Y87*	probably null	Het
Aqp7	G	A	4: 41,035,510 (GRCm39)	T115I	probably benign	Het
Dnah1	T	A	14: 31,032,863 (GRCm39)	I391F	probably benign	Het
Emc2	A	G	15: 43,360,453 (GRCm39)		probably null	Het
Gbp9	G	T	5: 105,229,124 (GRCm39)	Q508K	probably benign	Het
Grpel1	C	T	5: 36,626,811 (GRCm39)	T31M	probably benign	Het
Gtf3c4	C	T	2: 28,717,511 (GRCm39)	A790T	probably damaging	Het
Hmcn1	A	G	1: 150,449,305 (GRCm39)	C115R	probably damaging	Het
Ik	G	A	18: 36,886,566 (GRCm39)	R346H	probably benign	Het
Ldc1	A	C	4: 130,114,234 (GRCm39)	V61G	probably benign	Het
Lhx3	A	G	2: 26,091,173 (GRCm39)	S379P	probably benign	Het
Mocs1	A	G	17: 49,756,766 (GRCm39)		probably null	Het
Mycbp2	C	A	14: 103,385,986 (GRCm39)	V3457F	probably damaging	Het
Or14j7	A	T	17: 38,234,861 (GRCm39)	I135L	probably benign	Het
Or4a2	A	T	2: 89,248,031 (GRCm39)	I242N	probably damaging	Het
Or5an6	G	A	19: 12,371,780 (GRCm39)	R51K	probably benign	Het
Orc5	C	T	5: 22,704,969 (GRCm39)		probably null	Het
Phf20	T	C	2: 156,109,261 (GRCm39)	S203P	probably benign	Het
Pkd1l1	T	C	11: 8,817,204 (GRCm39)	S1815G	possibly damaging	Het
Pnpla7	T	C	2: 24,871,790 (GRCm39)	V11A	probably damaging	Het
Ranbp2	T	C	10: 58,300,086 (GRCm39)		probably null	Het
Ranbp3l	A	G	15: 9,063,169 (GRCm39)	D326G	probably damaging	Het
Rsph4a	C	T	10: 33,781,789 (GRCm39)	A213V	probably damaging	Het
Sema3b	A	G	9: 107,476,913 (GRCm39)	S570P	probably benign	Het
Spata31d1b	T	A	13: 59,866,787 (GRCm39)	C1312S	probably benign	Het
Sphkap	G	T	1: 83,253,618 (GRCm39)	T1377K	probably benign	Het
Stk32a	A	T	18: 43,438,085 (GRCm39)	R195W	possibly damaging	Het
Tacr2	T	C	10: 62,088,769 (GRCm39)	I58T	probably damaging	Het
Tmem200c	A	T	17: 69,147,547 (GRCm39)	K43N	probably damaging	Het
Tnik	T	C	3: 28,648,241 (GRCm39)	M431T	probably benign	Het
Uckl1	A	G	2: 181,216,245 (GRCm39)	S167P	possibly damaging	Het
Vmn2r90	A	G	17: 17,954,128 (GRCm39)	Y764C	probably damaging	Het
Zan	C	T	5: 137,408,423 (GRCm39)		probably null	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
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
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'- AAGCAGCTGACCTTACGACC -3'
(R):5'- CACTGGGATTGGCATCTGTG -3'

Sequencing Primer
(F):5'- TCCACGGCTTACAGAGGACTTC -3'
(R):5'- CATCTGTGGATGGGGAAGTAGC -3'

Posted On

2016-11-21