Mutagenetix > Incidental Mutation

Incidental Mutation 'R8368:Uqcrfs1'

646266

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

067738-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R8368 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30724295-30729299 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 30724799 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 247 (G247V)

Ref Sequence

ENSEMBL: ENSMUSP00000045284 (fasta)

Gene Model

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

AlphaFold

Q9CR68

Predicted Effect

probably damaging
Transcript: ENSMUST00000042834
AA Change: G247V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000045284
Gene: ENSMUSG00000038462
AA Change: G247V

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

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
Arhgap39	A	T	15: 76,619,455 (GRCm39)	S710T	probably damaging	Het
Asb10	A	C	5: 24,744,615 (GRCm39)	I193S	probably benign	Het
C2cd6	A	G	1: 59,133,820 (GRCm39)	L67P	probably benign	Het
Ccdc14	T	C	16: 34,543,742 (GRCm39)	L748P	probably benign	Het
Cers4	T	G	8: 4,565,698 (GRCm39)	V48G	probably benign	Het
Chrna10	T	C	7: 101,764,223 (GRCm39)	T54A	probably benign	Het
Dip2b	T	C	15: 100,052,124 (GRCm39)	S242P	probably benign	Het
Fam151a	A	G	4: 106,604,190 (GRCm39)	T325A	probably benign	Het
Gm21190	A	T	5: 15,729,848 (GRCm39)	S257T	possibly damaging	Het
Gm49368	T	C	7: 127,713,921 (GRCm39)	S909P	probably benign	Het
Gm5150	C	A	3: 16,044,902 (GRCm39)	V108F	probably damaging	Het
Gsdmc2	G	A	15: 63,696,902 (GRCm39)	T423I	probably damaging	Het
Hsf2	T	A	10: 57,388,241 (GRCm39)	C501S	probably damaging	Het
Igf1r	A	G	7: 67,836,796 (GRCm39)	N551D	probably benign	Het
Kctd3	G	A	1: 188,704,404 (GRCm39)	T789I	probably benign	Het
Lad1	A	G	1: 135,759,264 (GRCm39)	E474G	probably damaging	Het
Lfng	G	A	5: 140,598,981 (GRCm39)	E297K	probably damaging	Het
Magi3	A	T	3: 104,002,379 (GRCm39)		probably null	Het
Nrdc	A	G	4: 108,870,895 (GRCm39)	D174G	probably benign	Het
Nrxn3	T	A	12: 90,298,815 (GRCm39)	Y445*	probably null	Het
Otol1	A	G	3: 69,935,199 (GRCm39)	Y397C	probably damaging	Het
Pkd2	G	T	5: 104,607,653 (GRCm39)	E51*	probably null	Het
Rad21l	A	G	2: 151,495,390 (GRCm39)	V431A	probably benign	Het
Rad50	A	G	11: 53,574,155 (GRCm39)	L694S	possibly damaging	Het
Rasal1	A	G	5: 120,809,615 (GRCm39)	S507G	probably damaging	Het
Ros1	T	A	10: 51,940,833 (GRCm39)	D2162V	probably damaging	Het
Samd7	A	T	3: 30,819,574 (GRCm39)	D441V	probably damaging	Het
Senp1	T	C	15: 97,943,255 (GRCm39)	S623G	probably damaging	Het
Shld1	T	C	2: 132,592,433 (GRCm39)	I160T	probably benign	Het
Slc23a3	G	T	1: 75,106,281 (GRCm39)	P313T	probably damaging	Het
Slc66a2	T	C	18: 80,334,873 (GRCm39)	S231P	probably benign	Het
Stab1	T	C	14: 30,870,368 (GRCm39)	D1320G	possibly damaging	Het
Tdpoz7	A	G	3: 93,979,893 (GRCm39)	F20S	probably damaging	Het
Tinf2	T	C	14: 55,917,030 (GRCm39)	T372A	probably damaging	Het
Trim45	A	G	3: 100,830,672 (GRCm39)	T149A	possibly damaging	Het
Trim63	TGAGGAGGAGGAGGAGGAGGAG	TGAGGAGGAGGAGGAGGAG	4: 134,055,017 (GRCm39)		probably benign	Het
Unc13c	C	T	9: 73,838,070 (GRCm39)	S927N	probably benign	Het
Zfp143	A	T	7: 109,682,455 (GRCm39)	N342I	probably 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
R4324:Uqcrfs1	UTSW	13	30,725,141 (GRCm39)	missense	probably benign	0.35
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
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'- GCACCTTTCAAGTCTATGACTG -3'
(R):5'- AAGCTGCAGTCGAAGTGTCC -3'

Sequencing Primer
(F):5'- CTGAATCTAATGATGTTCAACAGTGG -3'
(R):5'- TGCAGTCGAAGTGTCCCAGTTAAG -3'

Posted On

2020-09-02