Mutagenetix > Incidental Mutation

Incidental Mutation 'R2263:Uqcrfs1'

243946

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

040263-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R2263 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30724295-30729299 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 30725090 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 150 (S150L)

Ref Sequence

ENSEMBL: ENSMUSP00000045284 (fasta)

Gene Model

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

AlphaFold

Q9CR68

Predicted Effect

probably benign
Transcript: ENSMUST00000042834
AA Change: S150L

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000045284
Gene: ENSMUSG00000038462
AA Change: S150L

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

98% (57/58)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,224,702 (GRCm39)	S472P	probably benign	Het
Armh3	A	G	19: 45,920,788 (GRCm39)		probably null	Het
Arsi	T	C	18: 61,049,737 (GRCm39)	Y207H	probably damaging	Het
Atp2b4	C	T	1: 133,654,271 (GRCm39)	R778Q	probably benign	Het
Bdp1	T	A	13: 100,202,545 (GRCm39)	D693V	probably damaging	Het
Car12	C	A	9: 66,654,913 (GRCm39)	Y114*	probably null	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Col4a1	A	G	8: 11,362,586 (GRCm39)		probably benign	Het
Cryl1	G	T	14: 57,523,865 (GRCm39)	Y232*	probably null	Het
Dnah11	T	A	12: 117,843,760 (GRCm39)	M4362L	probably benign	Het
Dnah11	T	C	12: 117,930,374 (GRCm39)	T3324A	probably damaging	Het
Dnah8	A	G	17: 30,892,809 (GRCm39)	N798S	probably damaging	Het
Dok4	A	T	8: 95,593,140 (GRCm39)	C182S	probably damaging	Het
Ehbp1	A	T	11: 22,045,462 (GRCm39)	N737K	probably benign	Het
Eif2b4	T	C	5: 31,349,918 (GRCm39)		probably benign	Het
Elp1	A	G	4: 56,755,298 (GRCm39)		probably null	Het
Fat4	T	C	3: 38,943,138 (GRCm39)	V677A	possibly damaging	Het
Fbn2	A	G	18: 58,228,248 (GRCm39)		probably benign	Het
Fbxl3	G	T	14: 103,320,648 (GRCm39)	Y314*	probably null	Het
Fgf12	T	A	16: 28,008,363 (GRCm39)	K84*	probably null	Het
Flt3	G	A	5: 147,284,873 (GRCm39)	P748L	probably benign	Het
Folh1	C	T	7: 86,368,973 (GRCm39)	S685N	probably benign	Het
Gpr65	A	T	12: 98,241,494 (GRCm39)	N49I	probably damaging	Het
Hdac7	A	G	15: 97,708,732 (GRCm39)		probably null	Het
Heatr5a	A	T	12: 51,962,933 (GRCm39)	V989E	probably damaging	Het
Kif12	A	G	4: 63,087,758 (GRCm39)	S242P	probably benign	Het
Ltbp3	G	A	19: 5,804,050 (GRCm39)	R854Q	probably benign	Het
Mia3	A	G	1: 183,115,647 (GRCm39)	Y295H	probably benign	Het
Nell1	C	T	7: 50,210,569 (GRCm39)	T494I	possibly damaging	Het
Nmur2	A	T	11: 55,920,387 (GRCm39)	V286E	probably damaging	Het
Or1ad6	G	A	11: 50,860,696 (GRCm39)	V284I	possibly damaging	Het
Or1e1	T	A	11: 73,245,131 (GRCm39)	L184Q	possibly damaging	Het
Or51t4	T	C	7: 102,598,464 (GRCm39)	F254S	probably damaging	Het
Pcdh1	A	T	18: 38,331,710 (GRCm39)	L431H	probably benign	Het
Pramel31	A	G	4: 144,090,111 (GRCm39)	I384V	probably benign	Het
Prex1	A	T	2: 166,430,988 (GRCm39)		probably benign	Het
Prim1	T	A	10: 127,851,132 (GRCm39)	D5E	probably benign	Het
Rubcnl	A	T	14: 75,278,260 (GRCm39)	N348I	possibly damaging	Het
Shisa9	G	T	16: 11,802,631 (GRCm39)	A63S	possibly damaging	Het
Shpk	G	A	11: 73,097,319 (GRCm39)		probably benign	Het
Slx4ip	T	C	2: 136,885,935 (GRCm39)	I85T	probably damaging	Het
Sptbn4	T	A	7: 27,133,782 (GRCm39)	D77V	probably damaging	Het
Strn3	A	T	12: 51,690,006 (GRCm39)		probably null	Het
Synrg	T	C	11: 83,867,978 (GRCm39)	M61T	possibly damaging	Het
Tekt4	T	A	17: 25,695,485 (GRCm39)	S439R	possibly damaging	Het
Ticam1	A	T	17: 56,578,888 (GRCm39)	V69E	possibly damaging	Het
Trpv1	C	T	11: 73,132,508 (GRCm39)	A374V	probably damaging	Het
Ubqln3	A	T	7: 103,790,842 (GRCm39)	L416*	probably null	Het
Utp15	T	C	13: 98,394,433 (GRCm39)	N153S	probably benign	Het
Vmn2r63	G	T	7: 42,578,031 (GRCm39)	T169N	probably benign	Het
Vps13b	T	A	15: 35,646,327 (GRCm39)	V1477E	probably benign	Het
Wdr87-ps	T	C	7: 29,231,987 (GRCm39)		noncoding transcript	Het
Xpo1	T	A	11: 23,234,634 (GRCm39)		probably null	Het
Xpo5	A	G	17: 46,541,269 (GRCm39)	I769V	probably benign	Het
Zc3h14	A	T	12: 98,724,773 (GRCm39)	H252L	probably benign	Het
Zfp410	G	T	12: 84,369,794 (GRCm39)		probably null	Het
Zfp521	T	C	18: 13,979,297 (GRCm39)	E372G	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
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'- CGTTTGCAATGGGTACACAAC -3'
(R):5'- ACTATCGTCGTGCTGAAGTTC -3'

Sequencing Primer
(F):5'- AAGATGAGTACAGACACCTATCAG -3'
(R):5'- CGTGCTGAAGTTCTTGATAGCAC -3'

Posted On

2014-10-16