Mutagenetix > Incidental Mutations

Incidental Mutation 'R0313:Uqcrc1'

25341

Institutional Source

Beutler Lab

Gene Symbol

Uqcrc1

Ensembl Gene

ENSMUSG00000025651

Gene Name

ubiquinol-cytochrome c reductase core protein 1

Synonyms

1110032G10Rik

MMRRC Submission

038523-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.958) question?

Stock #

R0313 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108936633-108949623 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 108948574 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 114 (R114S)

Ref Sequence

ENSEMBL: ENSMUSP00000141743 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026743] [ENSMUST00000194047] [ENSMUST00000194469] [ENSMUST00000195738]

AlphaFold

Q9CZ13

Predicted Effect

probably benign
Transcript: ENSMUST00000026743
AA Change: R415S

PolyPhen 2 Score 0.438 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000026743
Gene: ENSMUSG00000025651
AA Change: R415S

Domain	Start	End	E-Value	Type
low complexity region	17	37	N/A	INTRINSIC
Pfam:Peptidase_M16	58	205	2.1e-54	PFAM
Pfam:Peptidase_M16_C	210	395	3.4e-34	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000192305

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192918

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193332

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193607

Predicted Effect

probably benign
Transcript: ENSMUST00000194047

SMART Domains

Protein: ENSMUSP00000141435
Gene: ENSMUSG00000025651

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M16	41	188	7.7e-53	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000194469
AA Change: R114S

PolyPhen 2 Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000141743
Gene: ENSMUSG00000025651
AA Change: R114S

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M16_C	1	94	5.4e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195387

Predicted Effect

probably benign
Transcript: ENSMUST00000195738

Meta Mutation Damage Score

0.3289

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.9%
20x: 88.5%

Validation Efficiency

98% (40/41)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg2	A	G	6: 58,672,097	E309G	probably benign	Het
AI314180	A	G	4: 58,811,892	I1411T	probably benign	Het
Ankmy1	C	T	1: 92,886,221	G412D	probably damaging	Het
Cc2d1a	G	A	8: 84,136,969	T542I	probably benign	Het
Cldn18	T	C	9: 99,698,914	I94V	probably benign	Het
Cobll1	G	A	2: 65,095,744	R1195*	probably null	Het
Dnah7b	A	G	1: 46,207,643	T1660A	probably damaging	Het
Dzip3	G	T	16: 48,937,061	Q870K	probably damaging	Het
Ebf4	T	C	2: 130,306,787		probably benign	Het
Esyt2	T	C	12: 116,347,808	L439P	probably damaging	Het
Fbxl17	G	A	17: 63,356,851	R67C	probably damaging	Het
Haspin	A	G	11: 73,136,298	V655A	probably damaging	Het
Kmt2c	T	C	5: 25,344,930	E1351G	probably damaging	Het
Lama2	C	A	10: 26,993,398		probably null	Het
Lcp1	A	G	14: 75,199,433	E73G	probably damaging	Het
Ltv1	C	T	10: 13,182,860		probably null	Het
Mcmdc2	A	G	1: 9,932,141	Y529C	probably damaging	Het
Myo3b	T	A	2: 70,348,959	Y1172*	probably null	Het
Ncf1	T	C	5: 134,229,567	M1V	probably null	Het
Olfr1297	C	T	2: 111,621,600	S158N	possibly damaging	Het
Olfr250	T	C	9: 38,368,304	S243P	probably damaging	Het
Olfr765	A	G	10: 129,046,826	V79A	possibly damaging	Het
Pcif1	A	T	2: 164,884,419	H80L	probably damaging	Het
Pclo	T	C	5: 14,678,873		probably benign	Het
Polr2a	T	C	11: 69,735,080	Y1710C	unknown	Het
Ppp1r37	G	A	7: 19,533,998	T324I	probably damaging	Het
Prmt1	T	C	7: 44,978,748	D176G	probably benign	Het
Scn5a	T	C	9: 119,534,571	D501G	probably damaging	Het
Ska2	A	G	11: 87,117,814	I89M	possibly damaging	Het
Slc39a7	G	A	17: 34,029,544	A375V	probably damaging	Het
Ssrp1	T	A	2: 85,041,554	I374N	probably damaging	Het
Stox2	C	T	8: 47,192,134	G828R	probably damaging	Het
Tcam1	G	A	11: 106,284,078	E120K	probably benign	Het
Usp38	A	T	8: 80,984,442	L988*	probably null	Het
Vmn2r5	T	A	3: 64,503,827	H440L	probably benign	Het
Wdr12	A	T	1: 60,082,579	I271N	possibly damaging	Het
Xylt2	C	T	11: 94,669,894		probably benign	Het

Other mutations in Uqcrc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01309:Uqcrc1	APN	9	108948958	missense	possibly damaging	0.62
IGL02332:Uqcrc1	APN	9	108947869	missense	probably damaging	1.00
IGL02698:Uqcrc1	APN	9	108947943	critical splice donor site	probably null
R0743:Uqcrc1	UTSW	9	108944705	nonsense	probably null
R2027:Uqcrc1	UTSW	9	108947015	missense	probably benign	0.06
R2513:Uqcrc1	UTSW	9	108936768	missense	probably damaging	1.00
R4680:Uqcrc1	UTSW	9	108947861	missense	probably damaging	1.00
R4993:Uqcrc1	UTSW	9	108944810	missense	probably damaging	1.00
R5223:Uqcrc1	UTSW	9	108942156	missense	probably damaging	1.00
R5716:Uqcrc1	UTSW	9	108947405	missense	probably benign
R5941:Uqcrc1	UTSW	9	108947486	unclassified	probably benign
R6274:Uqcrc1	UTSW	9	108942156	missense	probably damaging	1.00
R6598:Uqcrc1	UTSW	9	108947622	missense	possibly damaging	0.93
R7132:Uqcrc1	UTSW	9	108949468	missense	probably damaging	0.98
R7150:Uqcrc1	UTSW	9	108947858	missense	probably benign	0.02
R7524:Uqcrc1	UTSW	9	108936759	missense	possibly damaging	0.48
R8708:Uqcrc1	UTSW	9	108947040	missense	probably damaging	0.97
R8889:Uqcrc1	UTSW	9	108937118	missense	probably damaging	1.00
R8892:Uqcrc1	UTSW	9	108937118	missense	probably damaging	1.00
R8975:Uqcrc1	UTSW	9	108947653	missense	probably damaging	1.00
R9136:Uqcrc1	UTSW	9	108947905	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- AGCACACTACTGTTGTTATTGGCAGG -3'
(R):5'- GGAGCAAATGTCACGCAGCATC -3'

Sequencing Primer
(F):5'- ATTGGCAGGTTATTGTGGAAAC -3'
(R):5'- GGAGCTGTTCCTCTCCCAAAG -3'

Posted On

2013-04-16