Mutagenetix > Incidental Mutation

Incidental Mutation 'R0445:Mcu'

158492

Institutional Source

Beutler Lab

Gene Symbol

Mcu

Ensembl Gene

ENSMUSG00000009647

Gene Name

mitochondrial calcium uniporter

Synonyms

D130073L02Rik, Ccdc109a, 2010012O16Rik

MMRRC Submission

038646-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0445 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

59282806-59452514 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 59292467 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000020312 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000009791] [ENSMUST00000020312]

AlphaFold

Q3UMR5

Predicted Effect

probably benign
Transcript: ENSMUST00000009791

SMART Domains

Protein: ENSMUSP00000009791
Gene: ENSMUSG00000009647

Domain	Start	End	E-Value	Type
Pfam:DUF607	1	171	3.7e-61	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000020312

SMART Domains

Protein: ENSMUSP00000020312
Gene: ENSMUSG00000009647

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
low complexity region	66	77	N/A	INTRINSIC
Pfam:MCU	114	319	3.5e-78	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.3%

Validation Efficiency

100% (77/77)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a calcium transporter that localizes to the mitochondrial inner membrane. The encoded protein interacts with mitochondrial calcium uptake 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit impaired calcium-induced permeability transition pore opening, decreased body size and weight, decreased exercise endurance and decreased grip strength. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067P10Rik	A	C	17: 48,400,542 (GRCm39)		probably null	Het
A2m	C	T	6: 121,634,914 (GRCm39)	T687I	probably damaging	Het
Acsbg1	A	G	9: 54,523,179 (GRCm39)	S483P	probably damaging	Het
Adam22	T	A	5: 8,230,591 (GRCm39)		probably benign	Het
Aggf1	A	G	13: 95,490,509 (GRCm39)	V595A	possibly damaging	Het
Aplf	A	T	6: 87,640,734 (GRCm39)	L71I	probably damaging	Het
Arid3c	G	T	4: 41,725,172 (GRCm39)	P292T	probably benign	Het
Bltp1	T	C	3: 37,054,214 (GRCm39)	V3111A	probably damaging	Het
Brms1l	T	A	12: 55,908,191 (GRCm39)	Y213*	probably null	Het
C87436	T	A	6: 86,426,832 (GRCm39)	S332T	possibly damaging	Het
Cad	G	A	5: 31,230,053 (GRCm39)	A1454T	probably benign	Het
Cdkn3	T	C	14: 47,004,857 (GRCm39)		probably null	Het
Cnot1	A	G	8: 96,486,836 (GRCm39)	C624R	probably damaging	Het
Cntnap5c	A	T	17: 58,411,738 (GRCm39)	I541F	probably benign	Het
Dennd1b	A	G	1: 139,095,503 (GRCm39)		probably benign	Het
Dscam	A	T	16: 96,573,703 (GRCm39)	I753N	probably damaging	Het
Eef2	C	CN	10: 81,014,604 (GRCm39)		probably null	Het
Epg5	T	A	18: 78,057,399 (GRCm39)	V1826D	possibly damaging	Het
Epha8	T	C	4: 136,659,711 (GRCm39)	Y755C	probably damaging	Het
Esco1	A	T	18: 10,574,989 (GRCm39)	N694K	probably damaging	Het
Fermt3	T	C	19: 6,980,667 (GRCm39)	H300R	probably benign	Het
Galnt5	C	A	2: 57,888,962 (GRCm39)	F187L	probably benign	Het
Gm17067	A	G	7: 42,358,046 (GRCm39)	I152T	probably benign	Het
Gnb3	T	C	6: 124,814,218 (GRCm39)	D154G	possibly damaging	Het
Gpr155	G	A	2: 73,200,488 (GRCm39)		probably benign	Het
Hdac3	A	G	18: 38,076,777 (GRCm39)	I240T	probably damaging	Het
Ifitm1	A	T	7: 140,548,354 (GRCm39)		probably null	Het
Kif1b	A	T	4: 149,272,466 (GRCm39)	L1455Q	probably benign	Het
Krt1	A	C	15: 101,756,056 (GRCm39)	L388R	probably damaging	Het
Lrp1	T	A	10: 127,426,505 (GRCm39)	K635*	probably null	Het
Map3k2	A	G	18: 32,350,263 (GRCm39)	Y371C	probably damaging	Het
Mkrn1	C	T	6: 39,381,788 (GRCm39)	V167I	probably benign	Het
Mrpl9	T	A	3: 94,352,198 (GRCm39)		probably benign	Het
Naip2	T	C	13: 100,298,395 (GRCm39)	Y547C	possibly damaging	Het
Nup88	G	A	11: 70,838,555 (GRCm39)	T487I	probably benign	Het
Oas3	G	A	5: 120,894,210 (GRCm39)	R39C	probably damaging	Het
Obscn	C	T	11: 58,890,161 (GRCm39)	R7457H	unknown	Het
Or13c25	G	A	4: 52,910,849 (GRCm39)	T315M	probably benign	Het
Or2y13	T	A	11: 49,414,784 (GRCm39)	V78E	probably damaging	Het
Paf1	T	C	7: 28,095,113 (GRCm39)	S118P	probably damaging	Het
Parp4	T	A	14: 56,840,205 (GRCm39)		probably null	Het
Pcdh15	A	T	10: 74,178,381 (GRCm39)	Y157F	probably damaging	Het
Pex10	G	A	4: 155,153,531 (GRCm39)		probably null	Het
Phrf1	C	T	7: 140,827,244 (GRCm39)		probably benign	Het
Polr3a	G	T	14: 24,504,989 (GRCm39)	D1090E	probably benign	Het
Ppfia4	A	C	1: 134,255,027 (GRCm39)	L276R	probably benign	Het
Rdh16f1	T	C	10: 127,626,736 (GRCm39)	L263S	probably benign	Het
Ryr3	T	C	2: 112,696,399 (GRCm39)	D967G	probably benign	Het
Shc1	G	T	3: 89,333,844 (GRCm39)	A226S	probably damaging	Het
Slc4a1	A	G	11: 102,245,192 (GRCm39)	V585A	probably benign	Het
Stk38l	T	A	6: 146,677,184 (GRCm39)	S461T	probably benign	Het
Tbkbp1	A	T	11: 97,040,295 (GRCm39)	S40T	probably damaging	Het
Tet1	A	G	10: 62,715,720 (GRCm39)	M25T	probably benign	Het
Themis	A	G	10: 28,658,007 (GRCm39)	R192G	probably damaging	Het
Tmem144	T	C	3: 79,732,661 (GRCm39)	T206A	probably benign	Het
Tmem74b	G	A	2: 151,548,879 (GRCm39)	R202H	probably damaging	Het
Trpm1	T	C	7: 63,894,590 (GRCm39)		probably benign	Het
Vars1	A	G	17: 35,230,785 (GRCm39)	H557R	probably benign	Het
Zbtb12	C	A	17: 35,115,277 (GRCm39)	A354E	possibly damaging	Het
Zfp143	A	T	7: 109,660,324 (GRCm39)		probably benign	Het
Zftraf1	T	C	15: 76,532,457 (GRCm39)	H217R	probably damaging	Het

Other mutations in Mcu

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02673:Mcu	APN	10	59,303,466 (GRCm39)	missense	probably damaging	1.00
IGL03074:Mcu	APN	10	59,303,580 (GRCm39)	missense	probably damaging	0.99
R0201:Mcu	UTSW	10	59,292,499 (GRCm39)	missense	probably damaging	1.00
R1256:Mcu	UTSW	10	59,290,790 (GRCm39)	missense	probably damaging	1.00
R1497:Mcu	UTSW	10	59,284,670 (GRCm39)	missense	probably damaging	1.00
R2322:Mcu	UTSW	10	59,290,766 (GRCm39)	critical splice donor site	probably null
R2404:Mcu	UTSW	10	59,303,526 (GRCm39)	missense	probably damaging	1.00
R4517:Mcu	UTSW	10	59,303,456 (GRCm39)	missense	probably damaging	1.00
R4666:Mcu	UTSW	10	59,292,521 (GRCm39)	missense	probably damaging	1.00
R4821:Mcu	UTSW	10	59,303,511 (GRCm39)	missense	probably damaging	0.99
R5940:Mcu	UTSW	10	59,292,554 (GRCm39)	missense	possibly damaging	0.94
R6949:Mcu	UTSW	10	59,292,566 (GRCm39)	missense	possibly damaging	0.94
R8054:Mcu	UTSW	10	59,290,817 (GRCm39)	missense	probably damaging	1.00
R8701:Mcu	UTSW	10	59,303,475 (GRCm39)	missense	probably damaging	1.00
R8810:Mcu	UTSW	10	59,303,535 (GRCm39)	nonsense	probably null
R8893:Mcu	UTSW	10	59,287,078 (GRCm39)	missense	probably benign	0.41
RF007:Mcu	UTSW	10	59,326,938 (GRCm39)	missense	probably benign	0.00
Z1177:Mcu	UTSW	10	59,292,593 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- ATCAGAAGCTCTCAGGGTCAGCAG -3'
(R):5'- CCTAAGCCATGAAGATGCAGCGAC -3'

Sequencing Primer
(F):5'- CTCAGGGTCAGCAGTAATTCTAGTC -3'
(R):5'- ATGCAGCGACGCTGAAC -3'

Posted On

2014-02-20