Mutagenetix > Incidental Mutation

Incidental Mutation 'R0701:Mcur1'

63027

Institutional Source

Beutler Lab

Gene Symbol

Mcur1

Ensembl Gene

ENSMUSG00000021371

Gene Name

mitochondrial calcium uniporter regulator 1

Synonyms

Ccdc90a, 6230416A05Rik

MMRRC Submission

038884-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0701 (G1)

Quality Score

169

Status

Not validated

Chromosome

Chromosomal Location

43691869-43713667 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43699216 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 267 (Y267C)

Ref Sequence

ENSEMBL: ENSMUSP00000021800 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021800]

AlphaFold

Q9CXD6

Predicted Effect

probably damaging
Transcript: ENSMUST00000021800
AA Change: Y267C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000021800
Gene: ENSMUSG00000021371
AA Change: Y267C

Domain	Start	End	E-Value	Type
low complexity region	48	80	N/A	INTRINSIC
low complexity region	85	125	N/A	INTRINSIC
Pfam:DUF1640	147	339	3.7e-58	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223347

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223353

Meta Mutation Damage Score

0.4690

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 91.3%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a conditional allele activated in cardiomyocytes exhibit postnatal lethality, reduced body size and impaired mitochondrial calcium uptake. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ada	A	G	2: 163,571,995 (GRCm39)	V261A	probably benign	Het
Arhgef10	T	A	8: 15,012,636 (GRCm39)	V320E	probably damaging	Het
Arhgef11	G	T	3: 87,640,766 (GRCm39)	A1308S	probably benign	Het
Bach1	G	A	16: 87,516,877 (GRCm39)	E473K	probably damaging	Het
Bsph1	G	T	7: 13,206,181 (GRCm39)	C72F	probably damaging	Het
C2cd2l	A	G	9: 44,227,499 (GRCm39)	L186P	probably damaging	Het
C9	A	C	15: 6,496,902 (GRCm39)	T200P	probably damaging	Het
Cald1	AAGAGAGAGAGAGAG	AAGAGAGAGAGAG	6: 34,723,108 (GRCm39)		probably null	Het
Chd1	C	A	17: 15,945,693 (GRCm39)	N72K	probably benign	Het
Copg1	T	A	6: 87,871,089 (GRCm39)	Y268*	probably null	Het
Csad	A	G	15: 102,087,571 (GRCm39)	S331P	probably benign	Het
Ddx31	G	T	2: 28,748,789 (GRCm39)	R239L	probably null	Het
Fat1	G	T	8: 45,479,590 (GRCm39)	A2879S	probably benign	Het
Fig4	T	A	10: 41,116,508 (GRCm39)	R628*	probably null	Het
Fmnl3	T	C	15: 99,219,188 (GRCm39)	N778S	probably damaging	Het
Gm10912	T	C	2: 103,896,875 (GRCm39)	S5P	probably benign	Het
Haus3	G	A	5: 34,323,359 (GRCm39)	T417M	probably benign	Het
Herc1	T	G	9: 66,395,232 (GRCm39)	V4189G	probably damaging	Het
Hoxb3	C	A	11: 96,237,074 (GRCm39)	S384*	probably null	Het
Ifnar2	A	G	16: 91,201,117 (GRCm39)	T453A	possibly damaging	Het
Ift140	A	G	17: 25,309,907 (GRCm39)	T1105A	probably benign	Het
Kmt2e	T	C	5: 23,678,581 (GRCm39)	V220A	probably benign	Het
Lrriq1	A	T	10: 103,069,905 (GRCm39)	V37E	probably benign	Het
Lrrn4	G	A	2: 132,712,080 (GRCm39)	T581M	probably benign	Het
Mdn1	T	A	4: 32,699,263 (GRCm39)	D1313E	probably benign	Het
Med13	T	A	11: 86,197,864 (GRCm39)	T736S	probably benign	Het
Mlh3	A	T	12: 85,314,677 (GRCm39)	I503K	probably benign	Het
Nckap5	A	G	1: 125,953,094 (GRCm39)	F1089L	probably benign	Het
Or1e35	A	T	11: 73,797,655 (GRCm39)	I221N	probably damaging	Het
Or4c10	A	G	2: 89,760,545 (GRCm39)	T131A	probably benign	Het
Or4k48	C	T	2: 111,476,136 (GRCm39)	V69I	probably benign	Het
Pdgfd	A	T	9: 6,359,706 (GRCm39)	D259V	probably damaging	Het
Pramel22	C	T	4: 143,383,010 (GRCm39)	E70K	possibly damaging	Het
R3hdm1	A	G	1: 128,109,476 (GRCm39)	Y309C	probably damaging	Het
Rab27b	A	T	18: 70,118,270 (GRCm39)	C216S	probably damaging	Het
Robo2	A	G	16: 73,843,762 (GRCm39)	I151T	probably damaging	Het
Sh2d4a	A	G	8: 68,783,747 (GRCm39)	D227G	probably damaging	Het
Sis	G	T	3: 72,848,378 (GRCm39)	T632K	probably damaging	Het
Smcr8	T	C	11: 60,668,941 (GRCm39)	Y30H	probably damaging	Het
Stap1	T	C	5: 86,242,667 (GRCm39)		probably null	Het
Syt16	G	A	12: 74,281,886 (GRCm39)	V337I	probably benign	Het
Taf1c	A	T	8: 120,326,722 (GRCm39)	I438N	probably damaging	Het
Ttn	A	G	2: 76,728,412 (GRCm39)		probably benign	Het
Unc45b	T	A	11: 82,831,031 (GRCm39)	L797Q	possibly damaging	Het
Usp6nl	A	G	2: 6,419,829 (GRCm39)	E144G	possibly damaging	Het
Wiz	A	T	17: 32,575,415 (GRCm39)	I907N	probably damaging	Het
Zap70	G	A	1: 36,820,258 (GRCm39)	R513Q	probably damaging	Het

Other mutations in Mcur1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02428:Mcur1	APN	13	43,695,203 (GRCm39)	missense	probably damaging	1.00
R0197:Mcur1	UTSW	13	43,699,216 (GRCm39)	missense	probably damaging	1.00
R1085:Mcur1	UTSW	13	43,708,480 (GRCm39)	missense	unknown
R1793:Mcur1	UTSW	13	43,713,491 (GRCm39)	missense	unknown
R2418:Mcur1	UTSW	13	43,703,013 (GRCm39)	missense	possibly damaging	0.91
R2419:Mcur1	UTSW	13	43,703,013 (GRCm39)	missense	possibly damaging	0.91
R2508:Mcur1	UTSW	13	43,697,941 (GRCm39)	missense	probably damaging	1.00
R4535:Mcur1	UTSW	13	43,698,016 (GRCm39)	missense	probably damaging	1.00
R4817:Mcur1	UTSW	13	43,705,147 (GRCm39)	missense	possibly damaging	0.92
R6542:Mcur1	UTSW	13	43,705,134 (GRCm39)	missense	probably damaging	1.00
R7137:Mcur1	UTSW	13	43,697,931 (GRCm39)	critical splice donor site	probably null
R7177:Mcur1	UTSW	13	43,698,012 (GRCm39)	missense	probably damaging	0.98
R7589:Mcur1	UTSW	13	43,705,101 (GRCm39)	missense	probably damaging	1.00
R7679:Mcur1	UTSW	13	43,697,959 (GRCm39)	nonsense	probably null
R7859:Mcur1	UTSW	13	43,713,485 (GRCm39)	nonsense	probably null
R8686:Mcur1	UTSW	13	43,695,193 (GRCm39)	missense	probably damaging	1.00
R9572:Mcur1	UTSW	13	43,713,433 (GRCm39)	missense	probably benign	0.23

Predicted Primers

PCR Primer
(F):5'- ACATCGTCCTGTGACATGCCAGAC -3'
(R):5'- ACCACACCATCAATGCCTTGGTTTC -3'

Sequencing Primer
(F):5'- CATGCCAGACGTTGGTTAAAAAC -3'
(R):5'- agagaacccaaccatcaacac -3'

Posted On

2013-07-30