Mutagenetix > Incidental Mutations

Incidental Mutation 'R6598:Uqcrc1'

525057

Institutional Source

Beutler Lab

Gene Symbol

Uqcrc1

Ensembl Gene

ENSMUSG00000025651

Gene Name

ubiquinol-cytochrome c reductase core protein 1

Synonyms

1110032G10Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R6598 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108936633-108949623 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 108947622 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 30 (V30F)

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: V331F

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000026743
Gene: ENSMUSG00000025651
AA Change: V331F

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: V30F

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000141743
Gene: ENSMUSG00000025651
AA Change: V30F

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.1%

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy4	A	T	14: 55,770,045	S943T	probably benign	Het
Adgrv1	T	G	13: 81,506,179	E2911A	probably damaging	Het
Ankrd28	A	G	14: 31,708,939	F819S	probably damaging	Het
Cald1	G	A	6: 34,746,640		probably null	Het
Casc4	A	T	2: 121,933,485	E247D	probably damaging	Het
Casc4	G	A	2: 121,933,486	E383K	probably damaging	Het
Clca2	G	T	3: 145,086,485	Y338*	probably null	Het
Cmya5	C	T	13: 93,089,808	G2924D	probably benign	Het
Col6a4	A	T	9: 106,000,412	L2122Q	probably damaging	Het
Dapk1	T	C	13: 60,761,347	F1258S	probably benign	Het
Ddx39	T	C	8: 83,722,927	V387A	probably benign	Het
Dscam	A	G	16: 96,819,784	C575R	probably damaging	Het
Dyrk4	C	T	6: 126,876,326	V632M	probably benign	Het
Eml2	G	A	7: 19,201,163	V432I	probably damaging	Het
Ermp1	A	G	19: 29,632,502	S111P	possibly damaging	Het
Fbxo40	A	T	16: 36,969,014	L578Q	probably damaging	Het
Frem1	A	T	4: 83,013,828	F212Y	probably damaging	Het
Icos	T	G	1: 60,994,697	I162S	possibly damaging	Het
Kcnj8	G	T	6: 142,570,233	N49K	probably damaging	Het
Ldhb	A	T	6: 142,490,600	M281K	possibly damaging	Het
Med17	T	C	9: 15,271,700	K350E	probably benign	Het
Mpo	A	T	11: 87,799,972	N412I	probably benign	Het
Mrps24	A	T	11: 5,704,713	D80E	probably benign	Het
Myo5c	A	G	9: 75,246,234	D134G	probably damaging	Het
Ndufs1	T	C	1: 63,164,950	Q140R	probably null	Het
Nsd1	T	C	13: 55,293,702	V1662A	possibly damaging	Het
Olfr1115	C	T	2: 87,252,756	T273I	probably damaging	Het
Olfr470	G	A	7: 107,845,263	L157F	probably benign	Het
Olfr794	C	A	10: 129,571,369	T238N	probably damaging	Het
Polq	G	A	16: 37,061,631	A1386T	probably benign	Het
Ppil1	C	A	17: 29,261,878	V24F	probably benign	Het
Prim1	G	T	10: 128,020,180	V165L	possibly damaging	Het
Slc12a2	G	A	18: 57,898,073	V317I	probably benign	Het
Tbpl1	A	G	10: 22,707,849	V103A	probably damaging	Het
Tmprss11c	C	T	5: 86,289,233	E10K	probably benign	Het
Unc80	T	G	1: 66,468,540		probably null	Het
Vmn1r88	T	C	7: 13,178,223	Y169H	probably damaging	Het
Zan	A	T	5: 137,406,364		probably benign	Het
Zc3h13	A	G	14: 75,332,183	D1490G	probably damaging	Het
Zer1	T	A	2: 30,113,274	S44C	probably damaging	Het
Zfp106	T	A	2: 120,535,060	K289*	probably null	Het
Zfp618	A	G	4: 63,089,399	Y155C	probably damaging	Het
Zfp979	A	G	4: 147,613,766	L162P	probably damaging	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
R0313:Uqcrc1	UTSW	9	108948574	missense	possibly damaging	0.69
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
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'- CTATGACTGCACTTACGGTGGTG -3'
(R):5'- GCGCATCCTAAAGCAAGTGG -3'

Sequencing Primer
(F):5'- CACTTACGGTGGTGGAGTGGTAAG -3'
(R):5'- TTGAAGTGACGCTCAGTGTCCC -3'

Posted On

2018-06-22