Mutagenetix > Incidental Mutation

Incidental Mutation 'R5073:Atp7a'

389034

Institutional Source

Beutler Lab

Gene Symbol

Atp7a

Ensembl Gene

ENSMUSG00000033792

Gene Name

ATPase, Cu++ transporting, alpha polypeptide

Synonyms

Menkes protein, MNK, br

MMRRC Submission

042662-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.739) question?

Stock #

R5073 (G1)

Quality Score

222

Status

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: 98.4%
10x: 96.5%
20x: 92.6%

Validation Efficiency

100% (113/113)

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: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	C	T	17: 24,593,274 (GRCm39)	R224C	probably damaging	Het
Adcy8	A	T	15: 64,659,207 (GRCm39)	W528R	probably damaging	Het
Agbl5	G	A	5: 31,060,403 (GRCm39)	R141Q	probably damaging	Het
Ahnak	T	A	19: 8,980,595 (GRCm39)	H626Q	probably benign	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
Bcas3	A	G	11: 85,261,958 (GRCm39)	Y110C	probably damaging	Het
Brpf1	T	C	6: 113,287,215 (GRCm39)	S148P	probably damaging	Het
Capn3	A	G	2: 120,322,301 (GRCm39)	H339R	probably damaging	Het
Ccdc141	A	T	2: 76,954,722 (GRCm39)		probably null	Het
Ccl2	A	G	11: 81,927,984 (GRCm39)		probably benign	Het
Cct8l1	G	A	5: 25,721,881 (GRCm39)	V199I	probably benign	Het
Cdc23	C	A	18: 34,784,742 (GRCm39)	V7L	unknown	Het
Cit	T	A	5: 116,084,902 (GRCm39)	M811K	probably benign	Het
Crim1	T	C	17: 78,588,776 (GRCm39)	C284R	possibly damaging	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
Dbndd2	A	G	2: 164,332,224 (GRCm39)		probably benign	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
Eef1akmt1	A	G	14: 57,803,464 (GRCm39)	L30P	probably damaging	Het
Elavl1	A	G	8: 4,351,741 (GRCm39)	M125T	possibly damaging	Het
Eml4	C	A	17: 83,771,006 (GRCm39)	S723R	probably damaging	Het
Fgf15	A	C	7: 144,450,576 (GRCm39)	Y54S	possibly 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
H2ab3	T	C	X: 119,222,543 (GRCm39)	T84A	probably damaging	Het
Hal	A	T	10: 93,349,904 (GRCm39)	I555F	probably damaging	Het
Hdac6	A	G	X: 7,811,036 (GRCm39)	F104L	probably damaging	Het
Hibadh	C	T	6: 52,597,079 (GRCm39)	V122M	possibly damaging	Het
Hmga1b	C	T	11: 120,654,012 (GRCm39)	Q100*	probably null	Het
Hydin	A	G	8: 111,265,105 (GRCm39)	N2763D	probably benign	Het
Ifi47	A	G	11: 48,986,361 (GRCm39)	T43A	probably benign	Het
Ifnlr1	A	G	4: 135,432,457 (GRCm39)	T298A	probably benign	Het
Impdh2	G	A	9: 108,440,535 (GRCm39)		probably null	Het
Insr	A	G	8: 3,209,475 (GRCm39)	F1203L	probably damaging	Het
Kcnq4	A	G	4: 120,574,714 (GRCm39)	S117P	probably damaging	Het
Kif19a	G	A	11: 114,658,053 (GRCm39)	M37I	probably benign	Het
Kif1a	T	C	1: 92,950,227 (GRCm39)	H1400R	probably damaging	Het
Kiss1r	C	A	10: 79,754,596 (GRCm39)	S30*	probably null	Het
Krt222	T	A	11: 99,134,796 (GRCm39)		probably benign	Het
Lekr1	A	T	3: 65,727,215 (GRCm39)		noncoding transcript	Het
Ltn1	A	G	16: 87,224,628 (GRCm39)	V32A	probably damaging	Het
Marchf1	T	A	8: 66,839,020 (GRCm39)	W21R	probably benign	Het
Marchf5	A	G	19: 37,188,207 (GRCm39)	N58S	possibly damaging	Het
Mast4	G	A	13: 102,875,391 (GRCm39)	Q1158*	probably null	Het
Mib2	C	G	4: 155,741,233 (GRCm39)	A535P	probably damaging	Het
Mrtfa	A	G	15: 80,906,627 (GRCm39)	V91A	probably damaging	Het
Msc	C	T	1: 14,824,537 (GRCm39)	V178M	probably benign	Het
Muc4	C	A	16: 32,754,529 (GRCm38)	H1468N	probably benign	Het
Muc5b	A	T	7: 141,412,999 (GRCm39)	T1982S	unknown	Het
Mvk	A	T	5: 114,591,013 (GRCm39)		probably benign	Het
Myo1a	T	C	10: 127,543,288 (GRCm39)		probably null	Het
Myo6	T	G	9: 80,195,290 (GRCm39)	S887A	probably benign	Het
Myo7a	G	A	7: 97,722,425 (GRCm39)	Q1167*	probably null	Het
Ncald	A	T	15: 37,397,478 (GRCm39)	H67Q	probably damaging	Het
Nmnat1	C	A	4: 149,553,595 (GRCm39)	M172I	probably benign	Het
Nudt1	G	T	5: 140,317,662 (GRCm39)		probably null	Het
Nudt5	T	A	2: 5,869,198 (GRCm39)	H141Q	probably benign	Het
Or1m1	T	C	9: 18,666,118 (GRCm39)	E271G	possibly damaging	Het
Or4e1	T	A	14: 52,701,032 (GRCm39)	M118L	probably damaging	Het
Or8h10	A	T	2: 86,808,666 (GRCm39)	V158D	possibly damaging	Het
Parp14	A	T	16: 35,655,077 (GRCm39)	I1798K	probably damaging	Het
Pcdhga7	A	G	18: 37,849,025 (GRCm39)	D344G	probably damaging	Het
Pck1	A	G	2: 172,998,770 (GRCm39)	T343A	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
Ppl	A	T	16: 4,906,742 (GRCm39)	S1184R	probably benign	Het
Prmt2	C	T	10: 76,058,390 (GRCm39)	V140I	probably damaging	Het
Prpf38b	A	G	3: 108,818,484 (GRCm39)	F92S	probably damaging	Het
Psmc3	A	G	2: 90,884,915 (GRCm39)		probably benign	Het
Ptgs1	A	T	2: 36,141,272 (GRCm39)	N573I	probably damaging	Het
Rgs9	C	A	11: 109,118,157 (GRCm39)	A332S	probably benign	Het
Rptor	T	C	11: 119,787,305 (GRCm39)	I1290T	possibly damaging	Het
Slc38a7	C	A	8: 96,568,278 (GRCm39)	R369L	probably damaging	Het
Slc4a2	G	A	5: 24,643,760 (GRCm39)	S855N	probably benign	Het
Slco2a1	G	T	9: 102,923,925 (GRCm39)	L46F	probably damaging	Het
Snrpd3	G	T	10: 75,355,227 (GRCm39)	C20F	possibly damaging	Het
Stab2	A	T	10: 86,699,422 (GRCm39)	I481N	probably benign	Het
Tbc1d9	A	G	8: 83,960,176 (GRCm39)	E143G	probably damaging	Het
Tenm2	T	A	11: 35,959,208 (GRCm39)	T1114S	probably damaging	Het
Tg	A	C	15: 66,607,101 (GRCm39)	M213L	probably benign	Het
Tnc	A	G	4: 63,938,648 (GRCm39)	C64R	probably damaging	Het
Tpd52l1	A	G	10: 31,233,916 (GRCm39)	L79S	probably damaging	Het
Tpp2	C	A	1: 43,993,896 (GRCm39)	S260R	possibly damaging	Het
Tppp2	G	A	14: 52,157,912 (GRCm39)	R119Q	probably benign	Het
Tshz2	A	T	2: 169,804,493 (GRCm39)		probably benign	Het
Tuba8	T	C	6: 121,199,862 (GRCm39)	V182A	probably damaging	Het
Ufl1	A	G	4: 25,254,780 (GRCm39)	Y559H	probably benign	Het
Usp53	A	T	3: 122,727,595 (GRCm39)	S996T	probably benign	Het
Vcam1	A	G	3: 115,918,037 (GRCm39)	V308A	probably damaging	Het
Wdr17	T	A	8: 55,143,271 (GRCm39)		probably null	Het
Wdr6	G	A	9: 108,451,565 (GRCm39)	H773Y	probably damaging	Het
Wnk4	T	G	11: 101,152,014 (GRCm39)	F173V	probably damaging	Het
Xrcc5	T	C	1: 72,378,188 (GRCm39)	Y395H	probably damaging	Het
Zcwpw1	T	A	5: 137,793,781 (GRCm39)	M1K	probably null	Het
Zfp263	A	G	16: 3,564,704 (GRCm39)	R240G	possibly damaging	Het
Zfp652	A	G	11: 95,640,890 (GRCm39)	I272V	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
R5074: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