Mutagenetix > Incidental Mutation

Incidental Mutation 'R0240:Atp7a'

65901

Institutional Source

Beutler Lab

Gene Symbol

Atp7a

Ensembl Gene

ENSMUSG00000033792

Gene Name

ATPase, Cu++ transporting, alpha polypeptide

Synonyms

Menkes protein, MNK, br

MMRRC Submission

038478-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.739) question?

Stock #

R0240 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

105070882-105168532 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 105153447 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 1117 (N1117K)

Ref Sequence

ENSEMBL: ENSMUSP00000058840 (fasta)

Gene Model

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

AlphaFold

Q64430

Predicted Effect

probably damaging
Transcript: ENSMUST00000055941
AA Change: N1117K

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

SMART Domains

Protein: ENSMUSP00000058840
Gene: ENSMUSG00000033792
AA Change: N1117K

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

possibly damaging
Transcript: ENSMUST00000113557
AA Change: N1116K

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000109186
Gene: ENSMUSG00000033792
AA Change: N1116K

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

Coding Region Coverage

1x: 98.7%
3x: 97.3%
10x: 91.2%
20x: 69.9%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsf3	T	C	8: 123,506,920 (GRCm39)	L71P	probably damaging	Het
Adamts2	A	T	11: 50,666,201 (GRCm39)	D399V	probably damaging	Het
Adck2	T	A	6: 39,560,752 (GRCm39)	V380E	probably benign	Het
Ankrd27	T	A	7: 35,318,864 (GRCm39)	L585Q	probably damaging	Het
Cacna1d	T	A	14: 29,818,926 (GRCm39)	M1210L	probably benign	Het
Cotl1	C	T	8: 120,567,063 (GRCm39)	W26*	probably null	Het
Csmd3	T	C	15: 47,492,635 (GRCm39)	T3000A	probably benign	Het
Ddhd2	A	T	8: 26,229,617 (GRCm39)		probably null	Het
Dnah8	T	C	17: 30,984,653 (GRCm39)	I3117T	probably damaging	Het
Dnm3	G	T	1: 162,181,194 (GRCm39)	Q162K	probably benign	Het
Dpy19l2	G	T	9: 24,569,876 (GRCm39)	A359D	probably damaging	Het
Eif4g3	A	G	4: 137,897,873 (GRCm39)	K1025R	probably damaging	Het
Eml2	C	A	7: 18,918,797 (GRCm39)	Y82*	probably null	Het
Eml6	A	G	11: 29,742,367 (GRCm39)	V1057A	possibly damaging	Het
Espl1	T	C	15: 102,220,976 (GRCm39)	S911P	probably benign	Het
Flrt1	A	T	19: 7,074,475 (GRCm39)		probably benign	Het
G3bp1	G	A	11: 55,382,854 (GRCm39)	G139D	probably damaging	Het
Galc	A	T	12: 98,218,293 (GRCm39)	H186Q	probably damaging	Het
Ganab	A	G	19: 8,890,177 (GRCm39)	D702G	possibly damaging	Het
Hdac10	T	C	15: 89,010,085 (GRCm39)	E291G	possibly damaging	Het
Hectd3	T	G	4: 116,859,810 (GRCm39)	V749G	probably damaging	Het
Kcnh1	T	A	1: 192,187,648 (GRCm39)	I703N	probably benign	Het
Kcnma1	G	A	14: 23,544,647 (GRCm39)	T505I	probably damaging	Het
Kctd11	A	G	11: 69,770,640 (GRCm39)	C133R	probably damaging	Het
Lama3	A	T	18: 12,672,880 (GRCm39)		probably null	Het
Lamb3	T	C	1: 193,017,335 (GRCm39)	L842P	probably damaging	Het
Lipk	G	A	19: 34,024,210 (GRCm39)	R336H	probably benign	Het
Lrrc24	T	A	15: 76,607,409 (GRCm39)	D58V	probably damaging	Het
Milr1	G	A	11: 106,645,722 (GRCm39)	W88*	probably null	Het
Mmp10	A	G	9: 7,506,544 (GRCm39)	D340G	probably damaging	Het
Mybpc1	T	A	10: 88,391,600 (GRCm39)	Y285F	possibly damaging	Het
Ncoa3	A	G	2: 165,896,320 (GRCm39)	T408A	probably benign	Het
Nefm	T	A	14: 68,358,583 (GRCm39)	K484*	probably null	Het
Nfasc	A	G	1: 132,529,721 (GRCm39)	S814P	probably damaging	Het
Nlrp4a	T	C	7: 26,161,941 (GRCm39)	V863A	probably benign	Het
Nos1	C	T	5: 118,005,948 (GRCm39)	P223S	probably benign	Het
Or13c7	T	A	4: 43,854,512 (GRCm39)	S68T	probably damaging	Het
Or4c108	A	T	2: 88,803,740 (GRCm39)	L165Q	probably damaging	Het
Or5an6	A	T	19: 12,372,327 (GRCm39)	E233D	probably benign	Het
Or8k41	A	G	2: 86,313,730 (GRCm39)	S119P	possibly damaging	Het
Otog	C	A	7: 45,913,456 (GRCm39)		probably null	Het
Pacs1	A	T	19: 5,206,402 (GRCm39)	I261N	possibly damaging	Het
Pbx1	G	A	1: 168,031,051 (GRCm39)	T189I	possibly damaging	Het
Pcnx1	T	C	12: 81,993,792 (GRCm39)	I908T	possibly damaging	Het
Pdxdc1	A	T	16: 13,697,309 (GRCm39)	W124R	probably damaging	Het
Phex	C	A	X: 155,969,214 (GRCm39)	D587Y	probably damaging	Het
Plcb3	A	T	19: 6,940,363 (GRCm39)	D435E	probably benign	Het
Plce1	A	C	19: 38,717,330 (GRCm39)	K1373T	probably damaging	Het
Prkcd	G	A	14: 30,324,045 (GRCm39)	A311V	probably damaging	Het
Ptpn3	A	T	4: 57,232,374 (GRCm39)	S421T	probably benign	Het
Ptprs	T	C	17: 56,743,087 (GRCm39)		probably null	Het
Qrich1	A	G	9: 108,411,333 (GRCm39)	D286G	probably damaging	Het
Rcc1	C	A	4: 132,060,226 (GRCm39)	G393V	probably damaging	Het
Reln	T	C	5: 22,311,043 (GRCm39)	N290S	probably benign	Het
Rhpn1	C	T	15: 75,585,971 (GRCm39)	T628I	probably benign	Het
Rnf224	T	C	2: 25,126,219 (GRCm39)	T45A	probably damaging	Het
Rpa1	A	G	11: 75,219,513 (GRCm39)	V137A	probably benign	Het
Rps6ka1	C	A	4: 133,575,842 (GRCm39)	Q693H	probably benign	Het
Scn2a	G	T	2: 65,566,118 (GRCm39)	V1381F	probably benign	Het
Scp2	T	A	4: 107,955,275 (GRCm39)	H112L	probably benign	Het
Sdk1	T	C	5: 141,984,502 (GRCm39)	W696R	probably damaging	Het
Slc26a7	C	A	4: 14,532,651 (GRCm39)	V408F	probably damaging	Het
Slc28a2	T	A	2: 122,285,008 (GRCm39)	I332N	probably benign	Het
Slc45a4	T	A	15: 73,453,755 (GRCm39)	E674D	probably benign	Het
Smpd3	T	C	8: 106,991,788 (GRCm39)	E255G	probably damaging	Het
Snx29	C	T	16: 11,478,417 (GRCm39)	R658W	probably damaging	Het
Sppl2a	A	T	2: 126,762,256 (GRCm39)	M275K	probably benign	Het
Stac	T	C	9: 111,464,089 (GRCm39)	N59S	probably damaging	Het
Stk25	A	T	1: 93,554,782 (GRCm39)	L131Q	probably damaging	Het
Thbs1	C	A	2: 117,944,874 (GRCm39)	N229K	probably damaging	Het
Tmx2	A	T	2: 84,506,186 (GRCm39)	H89Q	probably damaging	Het
Trappc3l	A	T	10: 33,974,928 (GRCm39)	R119*	probably null	Het
Ublcp1	G	T	11: 44,349,104 (GRCm39)	Y243*	probably null	Het
Usp24	C	A	4: 106,271,601 (GRCm39)	C2158*	probably null	Het
Usp34	A	T	11: 23,383,206 (GRCm39)	K2088N	probably damaging	Het
Vmn1r53	G	C	6: 90,200,925 (GRCm39)	S133C	probably damaging	Het
Vmn2r52	A	G	7: 9,893,327 (GRCm39)	V604A	probably damaging	Het
Vmn2r93	A	G	17: 18,525,061 (GRCm39)	K240E	probably benign	Het
Wdr13	T	G	X: 7,994,284 (GRCm39)	D242A	probably damaging	Het
Wwp1	C	T	4: 19,641,734 (GRCm39)		probably null	Het
Zan	G	A	5: 137,396,624 (GRCm39)	H4311Y	unknown	Het
Zc3h12c	C	A	9: 52,055,383 (GRCm39)	R123L	possibly damaging	Het
Zfp318	C	T	17: 46,707,739 (GRCm39)	P266S	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
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
R5074:Atp7a	UTSW	X	105,153,374 (GRCm39)	missense	probably benign

Predicted Primers

Posted On

2013-08-19