Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00481:Uqcrfs1'

5947

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Uqcrfs1

Ensembl Gene

ENSMUSG00000038462

Gene Name

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

Synonyms

4430402G14Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

IGL00481

Quality Score

Status

Chromosome

Chromosomal Location

30724295-30729299 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 30724908 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 211 (V211F)

Ref Sequence

ENSEMBL: ENSMUSP00000045284 (fasta)

Gene Model

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

AlphaFold

Q9CR68

Predicted Effect

probably benign
Transcript: ENSMUST00000042834
AA Change: V211F

PolyPhen 2 Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000045284
Gene: ENSMUSG00000038462
AA Change: V211F

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

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,240,969 (GRCm39)	L944P	probably damaging	Het
Akap13	A	G	7: 75,373,643 (GRCm39)	S1885G	probably damaging	Het
Aqp3	A	G	4: 41,093,632 (GRCm39)	Y261H	probably damaging	Het
Arap2	A	T	5: 62,793,305 (GRCm39)	N1380K	probably damaging	Het
Barx2	T	C	9: 31,758,141 (GRCm39)	I266V	unknown	Het
BC034090	C	T	1: 155,108,267 (GRCm39)	R360H	probably benign	Het
Bmal2	T	A	6: 146,711,164 (GRCm39)	M56K	probably benign	Het
Ccnb2	T	C	9: 70,326,189 (GRCm39)	K52E	probably damaging	Het
Ccp110	G	A	7: 118,329,220 (GRCm39)	V868I	possibly damaging	Het
Cfap300	T	C	9: 8,042,432 (GRCm39)	Y57C	probably damaging	Het
Cyld	G	T	8: 89,433,918 (GRCm39)	V236F	probably damaging	Het
Dst	T	C	1: 34,208,410 (GRCm39)		probably benign	Het
Ehmt1	G	T	2: 24,728,830 (GRCm39)	A637E	possibly damaging	Het
Erlin1	G	T	19: 44,057,758 (GRCm39)	Y22*	probably null	Het
Ezh1	A	T	11: 101,090,128 (GRCm39)	M539K	possibly damaging	Het
Fancc	A	T	13: 63,548,059 (GRCm39)	I80N	probably damaging	Het
Fat1	G	A	8: 45,503,977 (GRCm39)	S4447N	probably benign	Het
Fem1al	A	G	11: 29,774,755 (GRCm39)	L234P	probably damaging	Het
Fhip2a	A	G	19: 57,369,777 (GRCm39)	E440G	probably benign	Het
Frem3	A	G	8: 81,395,439 (GRCm39)	Q1822R	possibly damaging	Het
Iqgap1	C	T	7: 80,409,592 (GRCm39)	V248I	probably benign	Het
Itch	T	C	2: 155,054,943 (GRCm39)	I749T	probably damaging	Het
Kcna10	T	A	3: 107,102,830 (GRCm39)	M487K	probably benign	Het
Krt87	A	T	15: 101,386,092 (GRCm39)	L223Q	probably benign	Het
Mtmr2	T	C	9: 13,697,212 (GRCm39)	I84T	probably benign	Het
Myocd	G	A	11: 65,077,980 (GRCm39)	T477M	probably damaging	Het
Nfic	A	T	10: 81,244,054 (GRCm39)	V240E	possibly damaging	Het
Or4d2	A	G	11: 87,784,447 (GRCm39)	I101T	possibly damaging	Het
Prkdc	A	T	16: 15,608,330 (GRCm39)	Y3044F	probably benign	Het
Prkg1	A	G	19: 30,549,022 (GRCm39)	I636T	probably benign	Het
Ptpru	A	G	4: 131,535,546 (GRCm39)	V477A	probably benign	Het
Rab7b	T	A	1: 131,626,329 (GRCm39)	M119K	possibly damaging	Het
Sec61a1	T	C	6: 88,483,922 (GRCm39)		probably benign	Het
Sectm1b	A	G	11: 120,946,799 (GRCm39)	V32A	probably benign	Het
Shroom2	A	G	X: 151,406,219 (GRCm39)	S1034P	probably benign	Het
Sipa1l3	A	T	7: 29,085,533 (GRCm39)	I688N	probably damaging	Het
Slc24a1	T	C	9: 64,835,301 (GRCm39)	Y942C	probably damaging	Het
Smg1	C	T	7: 117,810,017 (GRCm39)	R139K	possibly damaging	Het
Stt3b	G	A	9: 115,080,915 (GRCm39)	T574I	probably benign	Het
Thoc2	A	G	X: 40,968,768 (GRCm39)	I76T	possibly damaging	Het
Tpm3	C	T	3: 89,995,024 (GRCm39)	T180M	probably damaging	Het
Usp47	A	G	7: 111,673,990 (GRCm39)	S418G	probably benign	Het
Usp5	T	C	6: 124,806,316 (GRCm39)	T15A	probably benign	Het
Vps13c	T	C	9: 67,768,147 (GRCm39)	L122P	probably damaging	Het
Zfp677	A	T	17: 21,617,930 (GRCm39)	E329V	probably benign	Het
Zfyve16	A	T	13: 92,653,046 (GRCm39)	N846K	possibly damaging	Het
Zp1	G	T	19: 10,896,141 (GRCm39)	P195T	probably damaging	Het

Other mutations in Uqcrfs1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2012-04-20