Mutagenetix > Incidental Mutation

Incidental Mutation 'R5074:Atp7a'

386900

Institutional Source

Beutler Lab

Gene Symbol

Atp7a

Ensembl Gene

ENSMUSG00000033792

Gene Name

ATPase, Cu++ transporting, alpha polypeptide

Synonyms

Menkes protein, MNK, br

MMRRC Submission

042663-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.739) question?

Stock #

R5074 (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: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.2%

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: 115 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	T	3: 124,210,482 (GRCm39)	H143Q	probably benign	Het
Abca3	C	T	17: 24,593,274 (GRCm39)	R224C	probably damaging	Het
Adcy8	A	T	15: 64,659,207 (GRCm39)	W528R	probably damaging	Het
Agbl1	A	G	7: 76,071,665 (GRCm39)	E329G	probably damaging	Het
Agbl5	G	A	5: 31,060,403 (GRCm39)	R141Q	probably damaging	Het
Ampd2	A	T	3: 107,986,549 (GRCm39)	M245K	probably damaging	Het
Apob	G	A	12: 8,055,219 (GRCm39)		probably null	Het
Apool	C	T	X: 111,259,540 (GRCm39)	Q60*	probably null	Het
Aqp1	A	T	6: 55,322,520 (GRCm39)	I172F	probably damaging	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
Cdc25a	T	A	9: 109,713,208 (GRCm39)	C227S	possibly damaging	Het
Ces1a	A	G	8: 93,759,303 (GRCm39)	S278P	possibly damaging	Het
Cfap65	A	T	1: 74,962,137 (GRCm39)	S695T	probably benign	Het
Col13a1	A	G	10: 61,709,797 (GRCm39)		silent	Het
Ctps1	A	T	4: 120,411,170 (GRCm39)	L282Q	probably damaging	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
Dennd3	G	A	15: 73,419,144 (GRCm39)	R645H	probably damaging	Het
Dnaaf5	G	T	5: 139,159,962 (GRCm39)	R620L	probably damaging	Het
Dnah11	A	T	12: 118,046,188 (GRCm39)	L1750*	probably null	Het
Dnah9	A	G	11: 65,740,866 (GRCm39)	F4107L	probably damaging	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
Dst	A	C	1: 34,334,344 (GRCm39)	K4857N	probably damaging	Het
Dysf	A	T	6: 84,114,254 (GRCm39)	K1226M	probably damaging	Het
Enpep	T	A	3: 129,097,404 (GRCm39)	Q409L	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
H2ab3	T	C	X: 119,222,543 (GRCm39)	T84A	probably damaging	Het
Hal	A	T	10: 93,349,904 (GRCm39)	I555F	probably damaging	Het
Hibadh	C	T	6: 52,597,079 (GRCm39)	V122M	possibly damaging	Het
Hsd3b3	T	C	3: 98,649,340 (GRCm39)	T328A	possibly damaging	Het
Ifi44	T	C	3: 151,455,269 (GRCm39)		probably benign	Het
Ifi47	A	G	11: 48,986,361 (GRCm39)	T43A	probably benign	Het
Inf2	A	T	12: 112,578,473 (GRCm39)		probably null	Het
Itga10	C	T	3: 96,559,527 (GRCm39)	Q475*	probably null	Het
Itga6	T	A	2: 71,656,779 (GRCm39)	D344E	probably benign	Het
Kcnmb4	T	C	10: 116,309,102 (GRCm39)	T109A	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
Lrrc66	G	A	5: 73,765,354 (GRCm39)	P563L	probably damaging	Het
Mamdc2	T	C	19: 23,356,160 (GRCm39)	D96G	probably benign	Het
Map3k12	A	T	15: 102,410,267 (GRCm39)		probably null	Het
Mc3r	A	T	2: 172,091,533 (GRCm39)	I252F	possibly damaging	Het
Metrn	C	T	17: 26,015,613 (GRCm39)	G34D	probably damaging	Het
Mipep	A	G	14: 61,046,462 (GRCm39)	E328G	probably benign	Het
Mrtfa	A	G	15: 80,906,627 (GRCm39)	V91A	probably damaging	Het
Muc5b	A	T	7: 141,412,999 (GRCm39)	T1982S	unknown	Het
Myh8	A	T	11: 67,196,742 (GRCm39)	T1792S	possibly damaging	Het
Myo1a	T	C	10: 127,543,288 (GRCm39)		probably null	Het
Myo5a	T	A	9: 75,081,438 (GRCm39)	S1008T	probably benign	Het
Ncald	A	T	15: 37,397,478 (GRCm39)	H67Q	probably damaging	Het
Nudt5	T	A	2: 5,869,198 (GRCm39)	H141Q	probably benign	Het
Numbl	G	A	7: 26,980,415 (GRCm39)	D466N	probably damaging	Het
Nup210	T	A	6: 91,032,309 (GRCm39)	I20F	probably benign	Het
Odad1	T	A	7: 45,578,514 (GRCm39)	M29K	probably benign	Het
Or10ak12	A	C	4: 118,666,057 (GRCm39)	W319G	possibly damaging	Het
Or10p21	T	C	10: 128,847,213 (GRCm39)	Y20H	possibly damaging	Het
Or14c46	A	G	7: 85,918,799 (GRCm39)	I66T	probably damaging	Het
Or51l14	A	T	7: 103,100,617 (GRCm39)	E24D	probably benign	Het
Or52e8b	A	T	7: 104,673,260 (GRCm39)	M309K	probably benign	Het
Or52n2c	A	C	7: 104,574,700 (GRCm39)	N90K	probably benign	Het
Or7h8	A	T	9: 20,123,878 (GRCm39)	I78F	possibly damaging	Het
Or8h10	A	T	2: 86,808,666 (GRCm39)	V158D	possibly damaging	Het
Papolg	G	A	11: 23,817,331 (GRCm39)	T153I	possibly damaging	Het
Pappa	A	G	4: 65,123,365 (GRCm39)	H900R	probably benign	Het
Pcdh17	T	C	14: 84,770,782 (GRCm39)	S1087P	probably benign	Het
Phf11a	T	G	14: 59,521,849 (GRCm39)	L107F	possibly damaging	Het
Phlpp2	A	T	8: 110,652,461 (GRCm39)	I602F	probably damaging	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
Pomt2	A	C	12: 87,180,234 (GRCm39)	C256G	probably damaging	Het
Ppl	A	T	16: 4,906,742 (GRCm39)	S1184R	probably benign	Het
Prkaa1	G	T	15: 5,206,392 (GRCm39)	R416L	possibly damaging	Het
Prkdc	C	A	16: 15,589,912 (GRCm39)	R2592S	probably damaging	Het
Prmt2	C	T	10: 76,058,390 (GRCm39)	V140I	probably damaging	Het
Prodh	A	T	16: 17,895,653 (GRCm39)		probably null	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
Rbm38	C	T	2: 172,863,875 (GRCm39)	P15S	probably benign	Het
Riox2	T	C	16: 59,312,236 (GRCm39)	S458P	possibly damaging	Het
Rnase4	T	C	14: 51,342,702 (GRCm39)	V142A	possibly damaging	Het
Rnf138	A	G	18: 21,159,204 (GRCm39)	N244S	probably benign	Het
Rnf40	T	C	7: 127,196,458 (GRCm39)	L802P	probably damaging	Het
Sfxn4	C	T	19: 60,839,450 (GRCm39)	V203M	probably damaging	Het
Skor2	G	T	18: 76,946,649 (GRCm39)	E124*	probably null	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
Slco4c1	G	A	1: 96,768,953 (GRCm39)	P303L	probably damaging	Het
Slirp	A	G	12: 87,490,784 (GRCm39)	T29A	probably damaging	Het
Snrpd3	G	T	10: 75,355,227 (GRCm39)	C20F	possibly damaging	Het
Spag17	T	A	3: 99,987,434 (GRCm39)	Y1575N	possibly damaging	Het
St8sia4	G	A	1: 95,594,910 (GRCm39)	A26V	probably benign	Het
Stab2	A	T	10: 86,699,422 (GRCm39)	I481N	probably benign	Het
Tenm2	T	A	11: 35,959,208 (GRCm39)	T1114S	probably damaging	Het
Tgm1	A	G	14: 55,947,392 (GRCm39)	V323A	probably damaging	Het
Tmco4	A	G	4: 138,785,433 (GRCm39)	H501R	probably damaging	Het
Tob1	A	T	11: 94,104,567 (GRCm39)	R34S	possibly damaging	Het
Trhr2	C	T	8: 123,084,110 (GRCm39)	V297I	probably benign	Het
Trim30d	A	C	7: 104,137,165 (GRCm39)	V13G	probably damaging	Het
Trpm3	T	C	19: 22,862,713 (GRCm39)	V485A	possibly damaging	Het
Trrap	T	C	5: 144,787,989 (GRCm39)	I3518T	probably damaging	Het
Ttc27	T	C	17: 75,054,750 (GRCm39)	L352P	probably damaging	Het
Ush1g	A	G	11: 115,209,123 (GRCm39)	L357P	possibly damaging	Het
Usp24	A	G	4: 106,277,644 (GRCm39)	H2258R	probably benign	Het
Vcam1	A	G	3: 115,918,037 (GRCm39)	V308A	probably damaging	Het
Vdr	A	G	15: 97,755,459 (GRCm39)	S355P	probably benign	Het
Vldlr	T	C	19: 27,215,677 (GRCm39)	S184P	probably damaging	Het
Xpo4	C	A	14: 57,822,098 (GRCm39)	A1073S	probably benign	Het
Zfand2b	A	G	1: 75,147,634 (GRCm39)	D224G	probably benign	Het
Zfp263	A	G	16: 3,564,704 (GRCm39)	R240G	possibly damaging	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
R5072:Atp7a	UTSW	X	105,153,374 (GRCm39)	missense	probably benign
R5073:Atp7a	UTSW	X	105,153,374 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCATCAGAGGCTCACAGTTTC -3'
(R):5'- TCAACTTACTTGAGAGATGAGCATC -3'

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

Posted On

2016-06-06