Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01926:Atp7b'

180290

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Atp7b

Ensembl Gene

ENSMUSG00000006567

Gene Name

ATPase, Cu++ transporting, beta polypeptide

Synonyms

Atp7a, WND, Wilson protein

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.602) question?

Stock #

IGL01926

Quality Score

Status

Chromosome

Chromosomal Location

22482801-22550321 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 22501797 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 740 (D740E)

Ref Sequence

ENSEMBL: ENSMUSP00000106366 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006742] [ENSMUST00000110738]

AlphaFold

Q64446

Predicted Effect

possibly damaging
Transcript: ENSMUST00000006742
AA Change: D855E

PolyPhen 2 Score 0.643 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000006742
Gene: ENSMUSG00000006567
AA Change: D855E

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: D740E

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000106366
Gene: ENSMUSG00000006567
AA Change: D740E

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

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	C	T	11: 110,026,155 (GRCm39)		probably benign	Het
Ano1	C	T	7: 144,164,612 (GRCm39)	V671M	possibly damaging	Het
Atf7ip2	G	T	16: 10,059,749 (GRCm39)	D430Y	probably damaging	Het
Bbs1	A	C	19: 4,952,891 (GRCm39)	S191A	probably benign	Het
Capn5	C	T	7: 97,777,679 (GRCm39)		probably null	Het
Cyp2c40	A	G	19: 39,791,099 (GRCm39)	I244T	probably benign	Het
Dsg1a	G	T	18: 20,466,641 (GRCm39)	D504Y	possibly damaging	Het
Eif3a	T	C	19: 60,758,399 (GRCm39)	D793G	unknown	Het
Exoc4	C	A	6: 33,839,077 (GRCm39)	D704E	probably damaging	Het
Fmo5	A	C	3: 97,544,797 (GRCm39)	T109P	probably damaging	Het
Ggt5	A	G	10: 75,439,935 (GRCm39)	I179V	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Irs1	G	T	1: 82,267,680 (GRCm39)	R179S	probably damaging	Het
Jmy	A	T	13: 93,596,294 (GRCm39)	V445E	probably damaging	Het
Jup	C	A	11: 100,274,412 (GRCm39)	V93F	probably benign	Het
Krt20	T	C	11: 99,328,652 (GRCm39)	Y91C	probably damaging	Het
Mug2	T	A	6: 122,013,063 (GRCm39)		probably benign	Het
Mybpc3	C	T	2: 90,965,752 (GRCm39)	T1188I	possibly damaging	Het
Myt1	T	C	2: 181,463,790 (GRCm39)	L1032P	probably benign	Het
Naip6	A	T	13: 100,436,704 (GRCm39)	N606K	probably damaging	Het
Nfrkb	A	T	9: 31,325,475 (GRCm39)	M973L	probably benign	Het
Or5aq6	C	T	2: 86,923,318 (GRCm39)	C141Y	probably damaging	Het
Or5b120	A	T	19: 13,480,105 (GRCm39)	T133S	possibly damaging	Het
Parp8	T	C	13: 116,998,838 (GRCm39)		probably benign	Het
Plekha5	T	A	6: 140,471,642 (GRCm39)	M131K	probably benign	Het
Pomt1	T	A	2: 32,133,484 (GRCm39)	S207T	probably benign	Het
Prlr	T	A	15: 10,314,306 (GRCm39)	M1K	probably null	Het
Prr15	A	G	6: 54,306,490 (GRCm39)	K83E	probably damaging	Het
Rnf4	A	G	5: 34,504,123 (GRCm39)	N5S	probably benign	Het
Sel1l3	T	A	5: 53,357,485 (GRCm39)	H169L	probably benign	Het
Slc24a5	A	G	2: 124,910,823 (GRCm39)	I85V	probably benign	Het
Tmc2	T	C	2: 130,102,160 (GRCm39)	I775T	possibly damaging	Het
Trnau1ap	A	T	4: 132,046,873 (GRCm39)	F141L	probably benign	Het
Zscan4d	A	G	7: 10,898,921 (GRCm39)	C119R	probably damaging	Het
Zswim9	A	T	7: 12,994,248 (GRCm39)	V636D	possibly damaging	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
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
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

Posted On

2014-05-07