Mutagenetix > Incidental Mutation

Incidental Mutation 'R5072:Atp7a'

388929

Institutional Source

Beutler Lab

Gene Symbol

Atp7a

Ensembl Gene

ENSMUSG00000033792

Gene Name

ATPase, Cu++ transporting, alpha polypeptide

Synonyms

Menkes protein, MNK, br

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.734) question?

Stock #

R5072 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

105070882-105168532 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 105153374 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1092 (D1092G)

Ref Sequence

ENSEMBL: ENSMUSP00000109186 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055941] [ENSMUST00000113557]

AlphaFold

Q64430

Predicted Effect

probably benign
Transcript: ENSMUST00000055941
AA Change: D1093G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000058840
Gene: ENSMUSG00000033792
AA Change: D1093G

Domain	Start	End	E-Value	Type
Pfam:HMA	11	72	1.8e-16	PFAM
Pfam:HMA	174	235	3.2e-14	PFAM
Pfam:HMA	280	342	1.5e-15	PFAM
low complexity region	348	362	N/A	INTRINSIC
Pfam:HMA	380	441	1.2e-17	PFAM
Pfam:HMA	484	544	6.7e-14	PFAM
Pfam:HMA	559	620	7.3e-15	PFAM
transmembrane domain	644	666	N/A	INTRINSIC
low complexity region	698	713	N/A	INTRINSIC
Pfam:E1-E2_ATPase	777	1025	1.4e-62	PFAM
Pfam:Hydrolase	1030	1305	1.4e-66	PFAM
Pfam:HAD	1033	1302	3.3e-12	PFAM
Pfam:Hydrolase_3	1273	1337	6.2e-7	PFAM
transmembrane domain	1351	1373	N/A	INTRINSIC
transmembrane domain	1377	1399	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113557
AA Change: D1092G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000109186
Gene: ENSMUSG00000033792
AA Change: D1092G

Domain	Start	End	E-Value	Type
Pfam:HMA	11	72	2.7e-14	PFAM
Pfam:HMA	174	235	2e-13	PFAM
Pfam:HMA	280	344	2.4e-14	PFAM
low complexity region	348	362	N/A	INTRINSIC
Pfam:HMA	380	441	5.1e-16	PFAM
Pfam:HMA	482	543	1.9e-12	PFAM
Pfam:HMA	558	619	1.8e-14	PFAM
transmembrane domain	643	665	N/A	INTRINSIC
low complexity region	697	712	N/A	INTRINSIC
Pfam:E1-E2_ATPase	777	1025	2.2e-51	PFAM
Pfam:Hydrolase	1029	1304	3.9e-76	PFAM
Pfam:HAD	1032	1301	4.5e-14	PFAM
Pfam:Hydrolase_3	1272	1336	2.1e-6	PFAM
transmembrane domain	1350	1372	N/A	INTRINSIC
transmembrane domain	1376	1398	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134363

Meta Mutation Damage Score

0.0746

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 95.9%
20x: 90.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane protein that functions in copper transport across membranes. This protein is localized to the trans Golgi network, where it is predicted to supply copper to copper-dependent enzymes in the secretory pathway. It relocalizes to the plasma membrane under conditions of elevated extracellular copper, and functions in the efflux of copper from cells. Mutations in this gene are associated with Menkes disease, X-linked distal spinal muscular atrophy, and occipital horn syndrome. Alternatively-spliced transcript variants have been observed. [provided by RefSeq, Aug 2013]
PHENOTYPE: Mutations in this gene affect copper metabolism and, depending on the allele, result in abnormal pigmentation, vibrissae, hair, and skeleton. Behavior may be abnormal and defects of collagen and elastin fibers are reported. Some alleles are hemizygous lethal. [provided by MGI curators]

Allele List at MGI

All alleles(88) : Targeted, other(2) Gene trapped(48) Spontaneous(23) Chemically induced(9) Radiation induced(8)

Other mutations in this stock

Total: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	A	T	13: 61,001,414 (GRCm39)	H104Q	probably benign	Het
4933405L10Rik	A	G	8: 106,436,201 (GRCm39)	T158A	possibly damaging	Het
A1cf	T	C	19: 31,895,385 (GRCm39)	M156T	probably benign	Het
Abca15	A	G	7: 120,006,198 (GRCm39)	Y1620C	probably damaging	Het
Abca3	C	T	17: 24,593,274 (GRCm39)	R224C	probably damaging	Het
Ablim1	A	G	19: 57,062,285 (GRCm39)		probably null	Het
Acox2	A	T	14: 8,241,374 (GRCm38)	Y579*	probably null	Het
Adnp	A	T	2: 168,024,921 (GRCm39)	S791R	probably damaging	Het
Agbl1	A	G	7: 76,071,665 (GRCm39)	E329G	probably damaging	Het
Alx3	G	T	3: 107,512,109 (GRCm39)	S249I	possibly damaging	Het
Apob	A	G	12: 8,058,714 (GRCm39)	T2366A	probably benign	Het
Apool	C	T	X: 111,259,540 (GRCm39)	Q60*	probably null	Het
Arid4a	T	C	12: 71,091,853 (GRCm39)	V213A	probably benign	Het
Bpifa5	A	T	2: 154,007,892 (GRCm39)	E178V	probably damaging	Het
Car4	G	A	11: 84,854,193 (GRCm39)	E47K	probably benign	Het
Catsper1	T	C	19: 5,390,074 (GRCm39)		probably null	Het
Ccdc63	T	A	5: 122,259,118 (GRCm39)	Q260L	probably benign	Het
Ccdc83	A	T	7: 89,899,737 (GRCm39)	F45Y	probably damaging	Het
Cct8l1	G	A	5: 25,721,881 (GRCm39)	V199I	probably benign	Het
Cdc23	C	A	18: 34,784,742 (GRCm39)	V7L	unknown	Het
Ces5a	C	T	8: 94,261,296 (GRCm39)	V44M	probably damaging	Het
Cltc	A	G	11: 86,608,794 (GRCm39)	I741T	possibly damaging	Het
Cnst	C	A	1: 179,450,451 (GRCm39)	D638E	possibly damaging	Het
Col13a1	A	G	10: 61,709,797 (GRCm39)		silent	Het
Cyp2a22	A	T	7: 26,631,906 (GRCm39)	F450Y	probably benign	Het
Cyp2d10	C	T	15: 82,287,954 (GRCm39)	R383H	probably benign	Het
Cyp4a29	A	G	4: 115,104,860 (GRCm39)	T123A	probably benign	Het
Ddx20	A	G	3: 105,590,191 (GRCm39)		probably null	Het
Dnaja3	A	T	16: 4,514,289 (GRCm39)	T274S	probably damaging	Het
Dot1l	A	G	10: 80,620,480 (GRCm39)	D514G	possibly damaging	Het
Dysf	A	T	6: 84,114,254 (GRCm39)	K1226M	probably damaging	Het
Epha4	T	C	1: 77,421,639 (GRCm39)	Y281C	probably damaging	Het
Fbxo42	T	C	4: 140,926,256 (GRCm39)	W313R	probably damaging	Het
Fign	A	T	2: 63,810,037 (GRCm39)	L411*	probably null	Het
Flt1	C	A	5: 147,620,749 (GRCm39)	A132S	probably benign	Het
Fryl	G	A	5: 73,232,110 (GRCm39)	P1550L	probably damaging	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,266,820 (GRCm39)		probably benign	Het
Gprasp2	C	T	X: 134,743,346 (GRCm39)	T235I	possibly damaging	Het
Gtf2ird1	G	T	5: 134,419,787 (GRCm39)		probably null	Het
H2ab3	T	C	X: 119,222,543 (GRCm39)	T84A	probably damaging	Het
H2ac20	C	T	3: 96,128,099 (GRCm39)		probably benign	Het
Hal	A	T	10: 93,349,904 (GRCm39)	I555F	probably damaging	Het
Hdac6	A	G	X: 7,811,036 (GRCm39)	F104L	probably damaging	Homo
Hspg2	T	C	4: 137,267,541 (GRCm39)	S2050P	probably damaging	Het
Irgc	T	C	7: 24,132,196 (GRCm39)	D207G	probably benign	Het
Kif19a	G	A	11: 114,658,053 (GRCm39)	M37I	probably benign	Het
Kiss1r	C	A	10: 79,754,596 (GRCm39)	S30*	probably null	Het
Krtap1-4	C	G	11: 99,474,442 (GRCm39)		probably benign	Het
Lrrfip2	A	G	9: 111,028,872 (GRCm39)	E365G	probably damaging	Het
Ly75	A	G	2: 60,206,307 (GRCm39)	Y121H	probably damaging	Het
Man2a1	G	A	17: 64,966,074 (GRCm39)		probably null	Het
Mllt10	C	A	2: 18,114,685 (GRCm39)	H52N	possibly damaging	Het
Mrtfa	A	G	15: 80,906,627 (GRCm39)	V91A	probably damaging	Het
Myo1a	T	C	10: 127,543,288 (GRCm39)		probably null	Het
Myo3b	C	A	2: 69,925,593 (GRCm39)	T20K	possibly damaging	Het
Nipsnap2	A	T	5: 129,816,644 (GRCm39)	K62N	probably damaging	Het
Nr1i3	C	T	1: 171,044,382 (GRCm39)	T169I	probably benign	Het
Numbl	G	A	7: 26,980,415 (GRCm39)	D466N	probably damaging	Het
Oprm1	A	G	10: 6,782,550 (GRCm39)	S398G	probably benign	Het
Or14c46	A	G	7: 85,918,799 (GRCm39)	I66T	probably damaging	Het
Or51k1	T	A	7: 103,661,325 (GRCm39)	R195W	probably damaging	Het
Or6k2	A	T	1: 173,986,527 (GRCm39)	I63F	probably damaging	Het
Or8h10	A	T	2: 86,808,666 (GRCm39)	V158D	possibly damaging	Het
Pebp1	G	T	5: 117,421,475 (GRCm39)	D156E	probably benign	Het
Pik3c2g	T	A	6: 139,665,873 (GRCm39)	C65S	probably null	Het
Pilra	A	G	5: 137,833,674 (GRCm39)	F131L	probably damaging	Het
Pitrm1	T	C	13: 6,603,226 (GRCm39)	F91S	probably damaging	Het
Ppl	A	T	16: 4,906,742 (GRCm39)	S1184R	probably benign	Het
Prmt2	C	T	10: 76,058,390 (GRCm39)	V140I	probably damaging	Het
Psg29	T	A	7: 16,945,763 (GRCm39)	D444E	probably damaging	Het
Ptgs1	A	T	2: 36,141,272 (GRCm39)	N573I	probably damaging	Het
Pygb	C	T	2: 150,643,498 (GRCm39)	T95M	probably damaging	Het
Rassf9	A	G	10: 102,381,766 (GRCm39)	K383E	probably damaging	Het
Rfk	T	A	19: 17,375,963 (GRCm39)	F86I	possibly damaging	Het
Rims2	T	C	15: 39,325,986 (GRCm39)	F773L	probably benign	Het
Sdcbp	A	G	4: 6,393,019 (GRCm39)	I218V	probably benign	Het
Slc4a2	G	A	5: 24,643,760 (GRCm39)	S855N	probably benign	Het
Slc8a2	T	C	7: 15,884,508 (GRCm39)	L626P	possibly damaging	Het
Snrpd3	G	T	10: 75,355,227 (GRCm39)	C20F	possibly damaging	Het
Spen	A	T	4: 141,249,613 (GRCm39)	S58R	unknown	Het
St3gal2	T	C	8: 111,684,350 (GRCm39)	C3R	possibly damaging	Het
Stab2	A	T	10: 86,699,422 (GRCm39)	I481N	probably benign	Het
Stat5b	T	C	11: 100,699,361 (GRCm39)		probably null	Het
Tmco3	G	T	8: 13,342,860 (GRCm39)	E199*	probably null	Het
Tmem26	A	G	10: 68,611,178 (GRCm39)	T216A	probably damaging	Het
Ttn	A	G	2: 76,550,822 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,602,709 (GRCm39)		probably null	Het
Ttn	C	T	2: 76,576,746 (GRCm39)	V24716I	probably damaging	Het
Uba5	T	C	9: 103,931,626 (GRCm39)	E202G	probably damaging	Het
Ufl1	A	G	4: 25,254,780 (GRCm39)	Y559H	probably benign	Het
Utrn	A	T	10: 12,259,948 (GRCm39)		probably null	Het
Vmn2r111	C	A	17: 22,767,022 (GRCm39)	C825F	probably damaging	Het
Vmn2r113	T	A	17: 23,177,329 (GRCm39)	C704*	probably null	Het
Vmn2r56	A	G	7: 12,427,983 (GRCm39)	I761T	probably benign	Het
Vmn2r98	C	T	17: 19,286,306 (GRCm39)	T268I	probably benign	Het
Zfp263	A	G	16: 3,564,704 (GRCm39)	R240G	possibly damaging	Het
Zfp473	T	A	7: 44,381,943 (GRCm39)	I797F	probably damaging	Het
Zfp68	A	T	5: 138,604,579 (GRCm39)	D543E	probably benign	Het

Other mutations in Atp7a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01505:Atp7a	APN	X	105,153,436 (GRCm39)	missense	probably damaging	0.97
IGL02023:Atp7a	APN	X	105,138,588 (GRCm39)	missense	probably damaging	0.99
IGL02597:Atp7a	APN	X	105,113,494 (GRCm39)	missense	probably benign	0.44
IGL03285:Atp7a	APN	X	105,153,381 (GRCm39)	missense	probably benign
brown	UTSW	X	105,132,097 (GRCm39)	missense	probably damaging	1.00
Golden	UTSW	X	0 ()	unclassified
Silver	UTSW	X	0 ()	unclassified
Tigrou	UTSW	X	105,132,012 (GRCm39)	missense	probably benign	0.04
Tigrou-like	UTSW	X	105,148,856 (GRCm39)	missense	probably damaging	1.00
Ups	UTSW	X	105,132,097 (GRCm39)	missense	probably damaging	1.00
R0240:Atp7a	UTSW	X	105,153,447 (GRCm39)	missense	probably damaging	1.00
R0240:Atp7a	UTSW	X	105,153,447 (GRCm39)	missense	probably damaging	1.00
R3434:Atp7a	UTSW	X	105,138,463 (GRCm39)	missense	probably benign	0.00
R3435:Atp7a	UTSW	X	105,138,463 (GRCm39)	missense	probably benign	0.00
R3756:Atp7a	UTSW	X	105,145,449 (GRCm39)	splice site	probably null
R4911:Atp7a	UTSW	X	105,163,980 (GRCm39)	missense	probably damaging	0.99
R5073:Atp7a	UTSW	X	105,153,374 (GRCm39)	missense	probably benign
R5074:Atp7a	UTSW	X	105,153,374 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GATCATCAGAGGCTCACAGTTTC -3'
(R):5'- CAACTTACTTGAGAGATGAGCATC -3'

Sequencing Primer
(F):5'- GAGGCTCACAGTTTCATTTTTCATG -3'
(R):5'- ACTTGAGAGATGAGCATCAATAATC -3'

Posted On

2016-06-06