Mutagenetix > Incidental Mutation

Incidental Mutation 'R4324:Uqcrfs1'

323974

Institutional Source

Beutler Lab

Gene Symbol

Uqcrfs1

Ensembl Gene

ENSMUSG00000038462

Gene Name

ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1

Synonyms

4430402G14Rik

MMRRC Submission

041095-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R4324 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

30724295-30729299 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30725141 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 133 (V133A)

Ref Sequence

ENSEMBL: ENSMUSP00000045284 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042834]

AlphaFold

Q9CR68

Predicted Effect

probably benign
Transcript: ENSMUST00000042834
AA Change: V133A

PolyPhen 2 Score 0.347 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000045284
Gene: ENSMUSG00000038462
AA Change: V133A

Domain	Start	End	E-Value	Type
Pfam:Ubiq-Cytc-red_N	2	77	6.4e-30	PFAM
Pfam:UCR_TM	80	145	1.3e-33	PFAM
Pfam:Rieske	176	268	5.6e-12	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mutant mice harboring a 3' UTR insertion that reduces expression specifically in skin acquire dark patches in the dorsal brown coat at 4-7 months of age. In heterozygotes, the dark patches eventually fill the entire dorsal region; in homozygotes, the dark patches eventually turn grey. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afp	A	G	5: 90,655,764 (GRCm39)	D583G	probably benign	Het
Alg9	T	G	9: 50,716,643 (GRCm39)	H22Q	probably damaging	Het
Aqp6	G	A	15: 99,499,291 (GRCm39)	M1I	probably null	Het
Arhgef10	T	A	8: 14,990,335 (GRCm39)	I270N	possibly damaging	Het
Asb13	G	T	13: 3,695,012 (GRCm39)	R160L	possibly damaging	Het
Atg10	T	A	13: 91,189,085 (GRCm39)	D75V	probably damaging	Het
Atxn7l2	A	T	3: 108,113,148 (GRCm39)	D218E	probably damaging	Het
Ccdc191	A	G	16: 43,767,872 (GRCm39)	E624G	probably damaging	Het
Cdan1	T	C	2: 120,555,460 (GRCm39)	I760M	probably damaging	Het
Cdk14	T	A	5: 5,086,532 (GRCm39)	K263*	probably null	Het
Cdk5rap2	A	T	4: 70,271,851 (GRCm39)	I287N	probably damaging	Het
Cdkn2aip	A	T	8: 48,165,208 (GRCm39)	S168R	probably benign	Het
Dnah17	C	T	11: 117,985,039 (GRCm39)	V1555M	probably benign	Het
Dsel	T	C	1: 111,789,123 (GRCm39)	T471A	probably damaging	Het
Dzank1	T	C	2: 144,330,618 (GRCm39)	E478G	possibly damaging	Het
Enc1	T	C	13: 97,382,405 (GRCm39)	F305S	probably benign	Het
Epn1	T	A	7: 5,100,210 (GRCm39)	M441K	probably benign	Het
Fbxw24	C	T	9: 109,434,013 (GRCm39)		probably null	Het
Gad1	G	A	2: 70,420,174 (GRCm39)	D353N	probably damaging	Het
Ggcx	A	G	6: 72,405,803 (GRCm39)	S545G	probably benign	Het
H2-K2	C	T	17: 34,219,014 (GRCm39)	V30M	possibly damaging	Het
Hipk3	C	A	2: 104,276,916 (GRCm39)	V388L	probably damaging	Het
Krt82	T	A	15: 101,450,182 (GRCm39)	M505L	probably benign	Het
Man2a1	A	G	17: 64,973,788 (GRCm39)	I355V	probably benign	Het
Or5p53	C	T	7: 107,532,900 (GRCm39)	P58S	probably damaging	Het
Pcbp3	G	A	10: 76,599,177 (GRCm39)	R109*	probably null	Het
Pcgf1	T	C	6: 83,056,938 (GRCm39)		probably null	Het
Plekhm2	A	T	4: 141,359,168 (GRCm39)	V533E	possibly damaging	Het
Prss3	T	G	6: 41,350,779 (GRCm39)	D237A	probably benign	Het
Rnf125	G	A	18: 21,110,817 (GRCm39)	R25K	probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Shc4	T	A	2: 125,520,670 (GRCm39)	M260L	probably benign	Het
Spag6l	T	C	16: 16,605,099 (GRCm39)	Y151C	probably benign	Het
Stac3	C	T	10: 127,339,118 (GRCm39)	P76S	probably damaging	Het
Trpc7	T	C	13: 57,035,169 (GRCm39)	I255V	probably damaging	Het
Ttn	T	C	2: 76,738,923 (GRCm39)	E3872G	probably benign	Het
Vmn2r52	T	A	7: 9,904,940 (GRCm39)	T300S	possibly damaging	Het
Wipi1	A	T	11: 109,494,662 (GRCm39)	I57N	possibly damaging	Het

Other mutations in Uqcrfs1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00481:Uqcrfs1	APN	13	30,724,908 (GRCm39)	missense	probably benign	0.14
IGL01318:Uqcrfs1	APN	13	30,724,904 (GRCm39)	missense	probably benign	0.15
IGL01603:Uqcrfs1	APN	13	30,725,181 (GRCm39)	missense	probably benign
IGL02016:Uqcrfs1	APN	13	30,729,097 (GRCm39)	missense	probably benign
IGL02740:Uqcrfs1	APN	13	30,725,006 (GRCm39)	missense	probably damaging	1.00
R0142:Uqcrfs1	UTSW	13	30,724,925 (GRCm39)	missense	probably benign	0.26
R0266:Uqcrfs1	UTSW	13	30,725,146 (GRCm39)	missense	probably benign	0.17
R1457:Uqcrfs1	UTSW	13	30,724,890 (GRCm39)	missense	probably damaging	1.00
R1469:Uqcrfs1	UTSW	13	30,724,784 (GRCm39)	missense	probably damaging	1.00
R1469:Uqcrfs1	UTSW	13	30,724,784 (GRCm39)	missense	probably damaging	1.00
R2079:Uqcrfs1	UTSW	13	30,725,291 (GRCm39)	missense	probably benign	0.19
R2134:Uqcrfs1	UTSW	13	30,724,787 (GRCm39)	missense	probably benign	0.22
R2262:Uqcrfs1	UTSW	13	30,725,090 (GRCm39)	missense	probably benign	0.01
R2263:Uqcrfs1	UTSW	13	30,725,090 (GRCm39)	missense	probably benign	0.01
R4963:Uqcrfs1	UTSW	13	30,724,746 (GRCm39)	missense	probably damaging	1.00
R5783:Uqcrfs1	UTSW	13	30,729,187 (GRCm39)	missense	probably damaging	1.00
R8280:Uqcrfs1	UTSW	13	30,729,071 (GRCm39)	missense	probably benign	0.01
R8368:Uqcrfs1	UTSW	13	30,724,799 (GRCm39)	missense	probably damaging	1.00
R9260:Uqcrfs1	UTSW	13	30,725,108 (GRCm39)	missense	probably damaging	0.97
R9261:Uqcrfs1	UTSW	13	30,724,794 (GRCm39)	missense	probably damaging	0.99
R9511:Uqcrfs1	UTSW	13	30,729,037 (GRCm39)	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- GCAGCTTCCTGGTCAATCTC -3'
(R):5'- AATGTGTACCCTTTTCAAGACATCC -3'

Sequencing Primer
(F):5'- GGTCAATCTCCTTCTTGGTTCTATGG -3'
(R):5'- CAGTTCCTGCTTCTGTCCG -3'

Posted On

2015-06-24