Mutagenetix > Incidental Mutation

Incidental Mutation 'R5940:Mcu'

462508

Institutional Source

Beutler Lab

Gene Symbol

Mcu

Ensembl Gene

ENSMUSG00000009647

Gene Name

mitochondrial calcium uniporter

Synonyms

D130073L02Rik, Ccdc109a, 2010012O16Rik

MMRRC Submission

044132-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5940 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

59282806-59452514 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 59292554 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 42 (I42F)

Ref Sequence

ENSEMBL: ENSMUSP00000009791 (fasta)

Gene Model

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

AlphaFold

Q3UMR5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000009791
AA Change: I42F

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000009791
Gene: ENSMUSG00000009647
AA Change: I42F

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020312
AA Change: I191F

PolyPhen 2 Score 0.744 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000020312
Gene: ENSMUSG00000009647
AA Change: I191F

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

0.1329

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.0%

Validation Efficiency

96% (88/92)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	C	14: 32,384,645 (GRCm39)	Y440C	possibly damaging	Het
Aasdh	G	T	5: 77,030,745 (GRCm39)	S618R	probably benign	Het
Alpk1	T	G	3: 127,464,595 (GRCm39)	T1228P	probably benign	Het
Ank3	T	C	10: 69,756,316 (GRCm39)	V850A	probably benign	Het
Apeh	A	T	9: 107,969,098 (GRCm39)		probably null	Het
Ash1l	C	T	3: 88,891,343 (GRCm39)	T1074I	probably damaging	Het
C3	G	A	17: 57,517,244 (GRCm39)	S1297F	possibly damaging	Het
Cchcr1	G	A	17: 35,835,890 (GRCm39)	R284Q	probably damaging	Het
Cd93	A	T	2: 148,284,152 (GRCm39)	I398N	probably benign	Het
Cdcp3	A	T	7: 130,839,992 (GRCm39)	D638V	probably damaging	Het
Chrd	G	T	16: 20,553,336 (GRCm39)	R226L	probably null	Het
Clvs1	A	T	4: 9,449,443 (GRCm39)	N344I	possibly damaging	Het
Cyp4v3	A	T	8: 45,774,821 (GRCm39)	I111N	probably damaging	Het
Cysltr2	T	A	14: 73,267,389 (GRCm39)	Y107F	probably damaging	Het
Cysltr2	T	C	14: 73,266,931 (GRCm39)	K260E	probably benign	Het
Czib	A	G	4: 107,750,485 (GRCm39)		probably benign	Het
Defb47	A	T	14: 63,238,359 (GRCm39)	E28D	probably benign	Het
Dnajc30	T	A	5: 135,093,413 (GRCm39)	Y103*	probably null	Het
Drap1	T	C	19: 5,473,028 (GRCm39)	T160A	probably benign	Het
Dsp	A	G	13: 38,380,002 (GRCm39)	E2249G	possibly damaging	Het
E2f8	T	A	7: 48,520,825 (GRCm39)	I499F	probably benign	Het
Ebf1	T	A	11: 44,512,048 (GRCm39)	Y116N	probably damaging	Het
Ecrg4	C	T	1: 43,776,401 (GRCm39)	R41*	probably null	Het
Ect2	C	A	3: 27,169,614 (GRCm39)	E746D	probably benign	Het
Enpep	T	A	3: 129,106,227 (GRCm39)	Y333F	probably damaging	Het
Fat4	T	C	3: 38,943,798 (GRCm39)	V897A	probably benign	Het
Gja3	T	A	14: 57,273,317 (GRCm39)	S352C	probably damaging	Het
Gpr153	C	A	4: 152,367,832 (GRCm39)	P561Q	probably benign	Het
Hlcs	T	C	16: 93,935,571 (GRCm39)	M574V	probably damaging	Het
Hmcn1	A	G	1: 150,532,973 (GRCm39)	V3070A	probably benign	Het
Hsd3b2	G	T	3: 98,619,287 (GRCm39)	N219K	probably benign	Het
Htra3	T	C	5: 35,810,324 (GRCm39)	I453V	possibly damaging	Het
Klrc1	A	T	6: 129,651,898 (GRCm39)	M220K	possibly damaging	Het
Kntc1	T	G	5: 123,924,258 (GRCm39)	I1048S	probably benign	Het
Lrrc37	T	C	11: 103,504,712 (GRCm39)	S243G	probably benign	Het
Macf1	T	A	4: 123,326,674 (GRCm39)	D2822V	probably damaging	Het
Mkln1	T	A	6: 31,466,307 (GRCm39)	D521E	probably damaging	Het
Ms4a13	T	C	19: 11,170,330 (GRCm39)	N5D	possibly damaging	Het
Msh3	T	G	13: 92,386,351 (GRCm39)	N838T	probably damaging	Het
Msl2	T	A	9: 100,978,290 (GRCm39)	C221*	probably null	Het
Ncapd2	A	G	6: 125,145,832 (GRCm39)	S1310P	probably benign	Het
Ncoa6	A	T	2: 155,257,785 (GRCm39)	M586K	probably damaging	Het
Ndel1	C	T	11: 68,713,397 (GRCm39)		probably benign	Het
Ndst4	T	C	3: 125,355,068 (GRCm39)		probably benign	Het
Nes	T	G	3: 87,883,259 (GRCm39)	V506G	probably damaging	Het
Nrg1	T	C	8: 32,339,372 (GRCm39)	K200E	probably damaging	Het
Nt5c1b	A	G	12: 10,425,515 (GRCm39)	K295E	probably damaging	Het
Or4f54	G	A	2: 111,122,729 (GRCm39)	V39M	possibly damaging	Het
Or5b123	T	A	19: 13,596,517 (GRCm39)		probably null	Het
Or6s1	T	A	14: 51,308,179 (GRCm39)	I224L	probably damaging	Het
Or8b4	C	T	9: 37,830,733 (GRCm39)	T260I	probably damaging	Het
Or8g51	G	T	9: 38,609,007 (GRCm39)	Y218*	probably null	Het
Or8k38	A	T	2: 86,488,394 (GRCm39)	M136K	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pde1a	A	G	2: 79,718,183 (GRCm39)		probably null	Het
Pds5a	A	G	5: 65,801,328 (GRCm39)		probably benign	Het
Plbd1	A	T	6: 136,590,719 (GRCm39)		probably benign	Het
Plod2	T	A	9: 92,473,450 (GRCm39)	V292E	probably benign	Het
Polg	A	G	7: 79,103,819 (GRCm39)	V879A	possibly damaging	Het
Ppargc1a	C	T	5: 51,631,253 (GRCm39)	A459T	probably damaging	Het
Prorp	T	A	12: 55,351,659 (GRCm39)	W323R	probably damaging	Het
Psip1	T	C	4: 83,394,559 (GRCm39)	E83G	probably damaging	Het
Rhbdf1	T	C	11: 32,159,847 (GRCm39)	D843G	probably benign	Het
Rnpepl1	G	T	1: 92,845,434 (GRCm39)	C451F	probably damaging	Het
Rrp1	T	C	10: 78,241,249 (GRCm39)	D206G	probably damaging	Het
Setbp1	A	T	18: 78,798,703 (GRCm39)	D1492E	probably damaging	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Slc16a6	C	T	11: 109,364,022 (GRCm39)		probably benign	Homo
Slc7a6os	A	G	8: 106,937,437 (GRCm39)	S37P	probably damaging	Het
Tenm4	T	A	7: 96,495,102 (GRCm39)	S1140T	probably damaging	Het
Thoc6	C	A	17: 23,889,315 (GRCm39)	R115L	probably benign	Het
Tmem63c	C	T	12: 87,121,946 (GRCm39)	H385Y	probably benign	Het
Trpm8	G	T	1: 88,279,137 (GRCm39)	E649*	probably null	Het
Usf1	A	G	1: 171,245,347 (GRCm39)	E253G	possibly damaging	Het
Vps13d	T	C	4: 144,801,545 (GRCm39)	T443A	probably benign	Het
Wdr86	T	C	5: 24,927,660 (GRCm39)	Y93C	probably damaging	Het
Zfp597	A	T	16: 3,683,685 (GRCm39)	I357N	probably damaging	Het
Zfp709	A	G	8: 72,644,064 (GRCm39)	I497V	possibly damaging	Het
Zxdc	T	C	6: 90,347,307 (GRCm39)	S223P	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
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
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'- TGACTGAGTGGTCCCAGTTG -3'
(R):5'- TACTTATGTCGGTGCCCAGG -3'

Sequencing Primer
(F):5'- GTCCCAGTTGTATTGAAGTGAGACAC -3'
(R):5'- GGACAACCTGTGGAAGTCACTTC -3'

Posted On

2017-02-28