Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02673:Mcu'

302996

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mcu

Ensembl Gene

ENSMUSG00000009647

Gene Name

mitochondrial calcium uniporter

Synonyms

D130073L02Rik, Ccdc109a, 2010012O16Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02673

Quality Score

Status

Chromosome

Chromosomal Location

59282806-59452514 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 59303466 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 124 (V124F)

Ref Sequence

ENSEMBL: ENSMUSP00000020312 (fasta)

Gene Model

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

AlphaFold

Q3UMR5

Predicted Effect

probably damaging
Transcript: ENSMUST00000020312
AA Change: V124F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000020312
Gene: ENSMUSG00000009647
AA Change: V124F

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

Coding Region Coverage

Validation Efficiency

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930012K11Rik	T	A	14: 70,395,056 (GRCm39)	T33S	probably benign	Het
Abca4	T	C	3: 121,897,150 (GRCm39)	Y610H	probably damaging	Het
Agl	A	T	3: 116,575,248 (GRCm39)	C630S	probably benign	Het
Alkbh6	G	T	7: 30,013,536 (GRCm39)	G202C	probably damaging	Het
Ascc3	A	T	10: 50,536,769 (GRCm39)	M701L	probably benign	Het
Bpgm	T	A	6: 34,464,769 (GRCm39)	L162Q	probably damaging	Het
Ccdc150	A	G	1: 54,368,149 (GRCm39)	T592A	probably benign	Het
Chpf2	G	A	5: 24,796,302 (GRCm39)	R416Q	probably benign	Het
Col14a1	G	A	15: 55,282,178 (GRCm39)	G813E	unknown	Het
Col18a1	C	T	10: 76,894,997 (GRCm39)	G983D	probably damaging	Het
Col5a1	C	T	2: 27,864,727 (GRCm39)	A737V	unknown	Het
Cyp2a22	T	G	7: 26,637,525 (GRCm39)	K157Q	probably benign	Het
Dhx57	A	G	17: 80,574,974 (GRCm39)	V668A	probably damaging	Het
Eps8l1	T	A	7: 4,481,731 (GRCm39)	V743E	probably damaging	Het
Fnbp4	C	T	2: 90,593,816 (GRCm39)	T557M	probably benign	Het
Fzd5	C	T	1: 64,774,265 (GRCm39)	E499K	possibly damaging	Het
Gm57858	A	C	3: 36,100,848 (GRCm39)		probably benign	Het
Il1r2	A	G	1: 40,154,323 (GRCm39)	Y230C	probably damaging	Het
Insrr	A	C	3: 87,720,368 (GRCm39)	E1002A	possibly damaging	Het
Kdm4a	C	T	4: 118,025,769 (GRCm39)	D146N	probably benign	Het
Kidins220	G	A	12: 25,044,991 (GRCm39)	V262M	probably damaging	Het
Kif26b	C	T	1: 178,649,170 (GRCm39)	P430L	probably damaging	Het
Mamdc4	T	C	2: 25,460,066 (GRCm39)	S62G	probably benign	Het
Mlf1	A	G	3: 67,301,280 (GRCm39)	M98V	probably benign	Het
Mogs	T	C	6: 83,095,199 (GRCm39)	V672A	probably damaging	Het
Ntrk3	T	C	7: 77,900,512 (GRCm39)	D609G	probably damaging	Het
Or1n1	C	T	2: 36,750,188 (GRCm39)	M57I	probably benign	Het
Pdlim5	T	A	3: 142,058,548 (GRCm39)	E65D	probably damaging	Het
Peg3	T	C	7: 6,713,413 (GRCm39)	N603S	probably damaging	Het
Pkd1	A	G	17: 24,790,257 (GRCm39)	Y980C	probably benign	Het
Rack1	A	G	11: 48,691,357 (GRCm39)	T23A	probably benign	Het
Rad50	A	T	11: 53,579,067 (GRCm39)	I497K	probably benign	Het
Sin3a	C	A	9: 57,014,725 (GRCm39)	Q649K	probably damaging	Het
Sirt6	A	G	10: 81,461,671 (GRCm39)	F46L	probably damaging	Het
Slc40a1	A	T	1: 45,957,576 (GRCm39)	I136N	possibly damaging	Het
Sspo	G	A	6: 48,452,794 (GRCm39)	R2834H	probably damaging	Het
Sspo	G	T	6: 48,475,709 (GRCm39)		probably null	Het
Sycp2	T	A	2: 178,036,004 (GRCm39)	T228S	possibly damaging	Het
Uhrf2	T	A	19: 30,070,207 (GRCm39)	N785K	probably damaging	Het
Vmn2r58	T	A	7: 41,514,082 (GRCm39)	Y187F	possibly damaging	Het
Vmn2r80	A	G	10: 79,005,318 (GRCm39)	I318M	probably benign	Het
Vps13c	T	C	9: 67,785,380 (GRCm39)	L249P	probably damaging	Het
Zw10	T	A	9: 48,988,893 (GRCm39)		probably null	Het

Other mutations in Mcu

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R0445:Mcu	UTSW	10	59,292,467 (GRCm39)	splice site	probably benign
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

Posted On

2015-04-16