Mutagenetix > Incidental Mutation

Incidental Mutation 'R0142:Uqcrfs1'

22402

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

038427-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R0142 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

30724295-30729299 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30724925 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 205 (V205A)

Ref Sequence

ENSEMBL: ENSMUSP00000045284 (fasta)

Gene Model

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

AlphaFold

Q9CR68

Predicted Effect

probably benign
Transcript: ENSMUST00000042834
AA Change: V205A

PolyPhen 2 Score 0.256 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000045284
Gene: ENSMUSG00000038462
AA Change: V205A

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

Meta Mutation Damage Score

0.2320

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.0%
20x: 87.6%

Validation Efficiency

92% (61/66)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	G	11: 110,079,467 (GRCm39)	D1229A	probably damaging	Het
Abhd8	A	C	8: 71,914,506 (GRCm39)	F41V	probably damaging	Het
Ago4	T	G	4: 126,410,725 (GRCm39)	E222A	probably benign	Het
Ap3b2	T	C	7: 81,122,828 (GRCm39)	I470V	probably damaging	Het
Bcl9l	C	T	9: 44,418,409 (GRCm39)	T749M	probably benign	Het
Bicc1	T	C	10: 70,761,200 (GRCm39)	K937E	probably damaging	Het
Bmi1	G	A	2: 18,688,095 (GRCm39)		probably null	Het
Boc	A	C	16: 44,310,604 (GRCm39)	I772S	probably damaging	Het
Brd10	A	G	19: 29,695,654 (GRCm39)	S1347P	possibly damaging	Het
C2	T	A	17: 35,092,504 (GRCm39)	I178F	possibly damaging	Het
Cacna1c	G	T	6: 118,580,843 (GRCm39)	A1416E	probably damaging	Het
Chst10	A	G	1: 38,910,810 (GRCm39)	L118P	probably damaging	Het
Crybg1	G	A	10: 43,875,059 (GRCm39)	T683I	possibly damaging	Het
Cul5	C	T	9: 53,546,350 (GRCm39)	V314I	probably damaging	Het
Dnajc17	C	A	2: 119,010,415 (GRCm39)	R211I	probably benign	Het
Emilin1	A	G	5: 31,071,264 (GRCm39)	T16A	probably benign	Het
Ercc6l2	A	C	13: 64,020,320 (GRCm39)		probably benign	Het
Fsd2	T	A	7: 81,209,683 (GRCm39)	D53V	probably damaging	Het
Galnt13	A	G	2: 54,988,615 (GRCm39)	D479G	probably damaging	Het
Grk3	A	T	5: 113,062,919 (GRCm39)	W643R	probably damaging	Het
Hdgf	G	A	3: 87,820,416 (GRCm39)	A4T	possibly damaging	Het
Hnrnpr	T	A	4: 136,054,593 (GRCm39)	V182E	probably damaging	Het
Ipo13	A	C	4: 117,762,766 (GRCm39)	L279R	probably damaging	Het
Itga9	C	A	9: 118,465,654 (GRCm39)	N169K	probably damaging	Het
Jph3	A	G	8: 122,480,110 (GRCm39)	T263A	possibly damaging	Het
Jph4	G	T	14: 55,345,783 (GRCm39)	Q625K	probably benign	Het
Kctd3	A	C	1: 188,728,595 (GRCm39)		probably null	Het
Kif26b	A	T	1: 178,742,954 (GRCm39)	S570C	probably damaging	Het
Klhl5	G	A	5: 65,300,693 (GRCm39)	W164*	probably null	Het
Lacc1	A	T	14: 77,268,239 (GRCm39)	H357Q	probably benign	Het
Lama2	A	G	10: 27,063,841 (GRCm39)	I1316T	probably benign	Het
Lcp2	C	T	11: 34,032,418 (GRCm39)	P332L	probably damaging	Het
Map3k6	A	T	4: 132,978,257 (GRCm39)	H1033L	probably benign	Het
Mfsd2b	A	G	12: 4,916,234 (GRCm39)	V252A	probably benign	Het
Myo16	T	A	8: 10,619,790 (GRCm39)	I1447N	probably benign	Het
Myo19	G	A	11: 84,785,429 (GRCm39)	R224H	probably damaging	Het
Myo5a	C	T	9: 75,067,856 (GRCm39)	H637Y	probably benign	Het
Nek10	C	T	14: 14,861,560 (GRCm38)	R539C	possibly damaging	Het
Nfix	A	T	8: 85,448,315 (GRCm39)	V404E	probably damaging	Het
Nr1i2	T	C	16: 38,073,368 (GRCm39)	R203G	probably benign	Het
Nup210l	G	A	3: 90,079,420 (GRCm39)	G968D	probably damaging	Het
Or10q1	A	T	19: 13,726,619 (GRCm39)	I50F	probably benign	Het
Or2ag15	G	T	7: 106,340,972 (GRCm39)	H56Q	probably benign	Het
Or8b37	A	T	9: 37,959,406 (GRCm39)	H296L	probably benign	Het
Phlpp2	C	T	8: 110,634,145 (GRCm39)	R242W	probably damaging	Het
Plcz1	A	G	6: 139,953,423 (GRCm39)	F398S	probably damaging	Het
Ppfibp2	C	A	7: 107,343,384 (GRCm39)	P808T	probably damaging	Het
Srpk2	T	C	5: 23,732,928 (GRCm39)	K239E	probably damaging	Het
Svep1	A	G	4: 58,118,232 (GRCm39)	V830A	probably benign	Het
Tesc	A	T	5: 118,194,635 (GRCm39)	I149F	possibly damaging	Het
Thsd7a	A	G	6: 12,418,334 (GRCm39)	W632R	probably damaging	Het
Tmprss9	A	G	10: 80,730,212 (GRCm39)	D704G	possibly damaging	Het
Tob1	T	C	11: 94,105,423 (GRCm39)	Y320H	probably damaging	Het
Trpm3	G	T	19: 22,965,280 (GRCm39)	D1582Y	probably damaging	Het
Ttc28	A	G	5: 111,425,323 (GRCm39)	K1716R	probably benign	Het
Usp29	G	A	7: 6,965,334 (GRCm39)	M392I	probably benign	Het
Uspl1	A	T	5: 149,125,159 (GRCm39)	Y22F	possibly damaging	Het
Virma	C	A	4: 11,548,783 (GRCm39)	N1780K	probably benign	Het
Vmn1r56	C	T	7: 5,199,372 (GRCm39)	A82T	probably benign	Het
Vmn2r5	A	T	3: 64,400,009 (GRCm39)	C553S	probably damaging	Het
Vwce	A	T	19: 10,641,976 (GRCm39)	R901W	probably damaging	Het
Wdpcp	C	A	11: 21,807,444 (GRCm39)		probably null	Het
Zfp423	A	T	8: 88,506,968 (GRCm39)	C1000*	probably null	Het
Zscan20	A	G	4: 128,479,630 (GRCm39)	F954L	probably benign	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
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
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'- ACTCTTCTGAGGGGACCTGAAGAC -3'
(R):5'- ATGAGTGCTTCTGCTGACGTACTG -3'

Sequencing Primer
(F):5'- TGAACTCGTAGGCAGGCAC -3'
(R):5'- GGCCATGTCGAAGATCGAG -3'

Posted On

2013-04-16