Mutagenetix > Incidental Mutation

Incidental Mutation 'R1579:Uqcc1'

171268

Institutional Source

Beutler Lab

Gene Symbol

Uqcc1

Ensembl Gene

ENSMUSG00000005882

Gene Name

ubiquinol-cytochrome c reductase complex assembly factor 1

Synonyms

mbFZb, 2410003P15Rik, 2310079L17Rik, Uqcc, Cbp3, Bfzp, 3110038N19Rik

MMRRC Submission

039616-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.910) question?

Stock #

R1579 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

155688814-155772230 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 155763641 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 5 (Q5*)

Ref Sequence

ENSEMBL: ENSMUSP00000122886 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006036] [ENSMUST00000109631] [ENSMUST00000109632] [ENSMUST00000109636] [ENSMUST00000133726] [ENSMUST00000136933] [ENSMUST00000151078] [ENSMUST00000152766] [ENSMUST00000159238] [ENSMUST00000142655]

AlphaFold

Q9CWU6

Predicted Effect

probably null
Transcript: ENSMUST00000006036
AA Change: Q11*

SMART Domains

Protein: ENSMUSP00000006036
Gene: ENSMUSG00000005882
AA Change: Q11*

Domain	Start	End	E-Value	Type
Pfam:Ubiq_cyt_C_chap	105	191	8.1e-22	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000109631
AA Change: Q11*

SMART Domains

Protein: ENSMUSP00000105259
Gene: ENSMUSG00000005882
AA Change: Q11*

Domain	Start	End	E-Value	Type
Pfam:Ubiq_cyt_C_chap	63	203	2.1e-45	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000109632
AA Change: Q11*

SMART Domains

Protein: ENSMUSP00000105260
Gene: ENSMUSG00000005882
AA Change: Q11*

Domain	Start	End	E-Value	Type
Pfam:Ubiq_cyt_C_chap	131	191	4.3e-19	PFAM
Pfam:Ubiq_cyt_C_chap	188	245	2.9e-14	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000109636
AA Change: Q11*

SMART Domains

Protein: ENSMUSP00000105264
Gene: ENSMUSG00000005882
AA Change: Q11*

Domain	Start	End	E-Value	Type
Pfam:Ubiq_cyt_C_chap	131	271	6.7e-45	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123790

Predicted Effect

probably null
Transcript: ENSMUST00000133726
AA Change: Q11*

Predicted Effect

probably null
Transcript: ENSMUST00000136933
AA Change: Q11*

Predicted Effect

probably null
Transcript: ENSMUST00000151078
AA Change: Q11*

Predicted Effect

probably null
Transcript: ENSMUST00000139232
AA Change: Q9*

SMART Domains

Protein: ENSMUSP00000123019
Gene: ENSMUSG00000005882
AA Change: Q9*

Domain	Start	End	E-Value	Type
Pfam:Ubiq_cyt_C_chap	98	238	2e-45	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000152766
AA Change: Q5*

SMART Domains

Protein: ENSMUSP00000122886
Gene: ENSMUSG00000005882
AA Change: Q5*

Domain	Start	End	E-Value	Type
Pfam:Ubiq_cyt_C_chap	98	238	3.4e-45	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162749

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146995

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152818

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155680

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141501

Predicted Effect

probably benign
Transcript: ENSMUST00000159238

Predicted Effect

probably benign
Transcript: ENSMUST00000142655

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane protein that is structurally similar to the mouse basic fibroblast growth factor repressed ZIC-binding protein. In mouse this protein may be involved in fibroblast growth factor regulated growth control. In humans, polymorphisms in this gene are associated with variation in human height and osteoarthritis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700037C18Rik	T	C	16: 3,724,039 (GRCm39)	R162G	probably benign	Het
Adamtsl4	T	A	3: 95,592,807 (GRCm39)		probably benign	Het
Adgrv1	A	T	13: 81,711,898 (GRCm39)	L306H	probably damaging	Het
Aknad1	T	A	3: 108,659,452 (GRCm39)	Y155*	probably null	Het
Aldh6a1	C	T	12: 84,488,622 (GRCm39)	R88H	possibly damaging	Het
Apc2	G	C	10: 80,147,179 (GRCm39)	K715N	probably damaging	Het
Arhgap45	G	A	10: 79,864,811 (GRCm39)	V798M	probably damaging	Het
Calcrl	T	C	2: 84,163,881 (GRCm39)	T437A	probably benign	Het
Cdan1	A	G	2: 120,561,220 (GRCm39)	F183L	probably damaging	Het
Chmp7	C	T	14: 69,956,899 (GRCm39)	M336I	probably benign	Het
Cntnap4	A	G	8: 113,608,462 (GRCm39)	E1294G	possibly damaging	Het
Crybg3	C	A	16: 59,350,561 (GRCm39)	G2607V	probably damaging	Het
Dhx29	G	T	13: 113,072,132 (GRCm39)		probably null	Het
Dmrtb1	T	A	4: 107,541,322 (GRCm39)	H13L	probably damaging	Het
Echdc2	A	G	4: 108,031,006 (GRCm39)	M162V	probably benign	Het
Entpd8	A	G	2: 24,974,986 (GRCm39)	D439G	possibly damaging	Het
Fastkd2	C	G	1: 63,785,046 (GRCm39)	H477Q	probably null	Het
Fbrs	A	G	7: 127,084,529 (GRCm39)	E517G	probably damaging	Het
Gchfr	A	G	2: 119,002,502 (GRCm39)	T71A	possibly damaging	Het
Hecw1	A	T	13: 14,552,492 (GRCm39)	C35S	probably damaging	Het
Izumo1r	C	T	9: 14,813,098 (GRCm39)	R58H	probably benign	Het
Kif13a	T	C	13: 46,906,332 (GRCm39)	E537G	possibly damaging	Het
Kif13b	G	A	14: 65,019,790 (GRCm39)		probably null	Het
Kremen1	CGGG	CGGGGGG	11: 5,151,791 (GRCm39)		probably benign	Het
Lnpk	A	T	2: 74,378,340 (GRCm39)	D140E	probably damaging	Het
Ltbp1	A	G	17: 75,559,362 (GRCm39)	M284V	probably benign	Het
Me3	A	T	7: 89,495,050 (GRCm39)	T323S	possibly damaging	Het
Mtus1	A	G	8: 41,535,895 (GRCm39)	V607A	probably damaging	Het
Myh14	A	T	7: 44,305,118 (GRCm39)		probably null	Het
Myo1h	T	A	5: 114,485,496 (GRCm39)	C545*	probably null	Het
Nbn	T	A	4: 15,964,289 (GRCm39)	D121E	probably damaging	Het
Nox4	A	G	7: 87,019,231 (GRCm39)	Y408C	probably damaging	Het
Nup214	C	T	2: 31,924,478 (GRCm39)	S1669F	probably damaging	Het
Or10q1b	A	G	19: 13,682,566 (GRCm39)	D125G	probably damaging	Het
Or52d3	T	A	7: 104,229,268 (GRCm39)	Y138*	probably null	Het
Or5w20	G	A	2: 87,727,286 (GRCm39)	A248T	probably benign	Het
Osbpl5	T	C	7: 143,262,939 (GRCm39)	T150A	possibly damaging	Het
Pgap3	C	A	11: 98,280,879 (GRCm39)	M265I	probably benign	Het
Pirb	A	T	7: 3,720,637 (GRCm39)	L287Q	probably benign	Het
Pkd2l2	A	T	18: 34,560,446 (GRCm39)	N351I	possibly damaging	Het
Prkdc	T	A	16: 15,493,192 (GRCm39)	Y700N	probably benign	Het
Pzp	A	G	6: 128,500,931 (GRCm39)		probably null	Het
Rfwd3	C	T	8: 112,014,874 (GRCm39)	R326Q	probably damaging	Het
Rptor	A	T	11: 119,786,827 (GRCm39)	Q1264L	probably benign	Het
Scnn1a	T	C	6: 125,299,103 (GRCm39)	F61S	probably damaging	Het
Tenm2	C	A	11: 35,997,610 (GRCm39)	W825C	probably damaging	Het
Tex264	A	T	9: 106,559,116 (GRCm39)	I70N	possibly damaging	Het
Tns2	G	T	15: 102,019,645 (GRCm39)	D504Y	probably damaging	Het
Trappc14	T	C	5: 138,260,128 (GRCm39)	I338V	probably benign	Het
Trpc2	T	A	7: 101,733,447 (GRCm39)	F132Y	probably damaging	Het
Trpm4	A	G	7: 44,958,021 (GRCm39)	F816S	probably damaging	Het
Usp36	G	T	11: 118,175,771 (GRCm39)	T130N	probably damaging	Het
Vav1	A	G	17: 57,604,252 (GRCm39)	M165V	probably benign	Het
Vmn1r64	A	T	7: 5,886,803 (GRCm39)	F247I	probably damaging	Het
Vmn2r26	G	C	6: 124,016,706 (GRCm39)	R390P	probably benign	Het
Vmn2r57	G	T	7: 41,049,548 (GRCm39)	H734N	probably benign	Het
Wfdc16	G	T	2: 164,477,843 (GRCm39)	H69N	possibly damaging	Het
Zfp316	C	T	5: 143,239,317 (GRCm39)	E901K	probably damaging	Het
Zfp334	T	C	2: 165,223,719 (GRCm39)	E108G	probably damaging	Het
Zfp407	T	C	18: 84,227,763 (GRCm39)	S1949G	probably benign	Het
Zfp408	A	G	2: 91,476,473 (GRCm39)	L227P	probably benign	Het
Zfp560	T	C	9: 20,259,287 (GRCm39)	H525R	possibly damaging	Het
Zfp609	G	A	9: 65,611,754 (GRCm39)	A403V	possibly damaging	Het

Other mutations in Uqcc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01950:Uqcc1	APN	2	155,700,058 (GRCm39)	missense	probably damaging	1.00
IGL02883:Uqcc1	APN	2	155,753,749 (GRCm39)	missense	possibly damaging	0.93
R0433:Uqcc1	UTSW	2	155,752,288 (GRCm39)	missense	probably damaging	1.00
R1506:Uqcc1	UTSW	2	155,753,738 (GRCm39)	missense	probably damaging	0.98
R4801:Uqcc1	UTSW	2	155,700,026 (GRCm39)	splice site	probably benign
R5049:Uqcc1	UTSW	2	155,752,341 (GRCm39)	missense	probably damaging	1.00
R6042:Uqcc1	UTSW	2	155,763,564 (GRCm39)	missense	possibly damaging	0.48
R6526:Uqcc1	UTSW	2	155,693,343 (GRCm39)	missense	probably damaging	1.00
R7331:Uqcc1	UTSW	2	155,753,731 (GRCm39)	missense	probably benign
R7548:Uqcc1	UTSW	2	155,751,309 (GRCm39)	missense	probably damaging	1.00
R7721:Uqcc1	UTSW	2	155,700,066 (GRCm39)	missense	probably benign	0.13
R7780:Uqcc1	UTSW	2	155,752,073 (GRCm39)	splice site	probably null
R8723:Uqcc1	UTSW	2	155,729,100 (GRCm39)	nonsense	probably null
R9104:Uqcc1	UTSW	2	155,743,217 (GRCm39)	critical splice donor site	probably null
R9366:Uqcc1	UTSW	2	155,771,995 (GRCm39)	unclassified	probably benign
R9412:Uqcc1	UTSW	2	155,693,329 (GRCm39)	missense	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- GAGTTAGAAGCAACACCCTGGACAC -3'
(R):5'- AGGAACTCTTGCTAGGAGCCAGAC -3'

Sequencing Primer
(F):5'- gttcacaactgcctgtaactc -3'
(R):5'- gccagacttgaaggctaaatatg -3'

Posted On

2014-04-13