Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01950:Uqcc1'

181297

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Uqcc1

Ensembl Gene

ENSMUSG00000005882

Gene Name

ubiquinol-cytochrome c reductase complex assembly factor 1

Synonyms

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.910) question?

Stock #

IGL01950

Quality Score

Status

Chromosome

Chromosomal Location

155688814-155772230 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 155700058 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 172 (Y172H)

Ref Sequence

ENSEMBL: ENSMUSP00000122886 (fasta)

Gene Model

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

AlphaFold

Q9CWU6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000006036
AA Change: Y125H

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000006036
Gene: ENSMUSG00000005882
AA Change: Y125H

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109631
AA Change: Y137H

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000105259
Gene: ENSMUSG00000005882
AA Change: Y137H

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

Predicted Effect

probably benign
Transcript: ENSMUST00000109632

SMART Domains

Protein: ENSMUSP00000105260
Gene: ENSMUSG00000005882

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 damaging
Transcript: ENSMUST00000109636
AA Change: Y205H

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000105264
Gene: ENSMUSG00000005882
AA Change: Y205H

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 benign
Transcript: ENSMUST00000133726

Predicted Effect

probably benign
Transcript: ENSMUST00000136933

Predicted Effect

probably damaging
Transcript: ENSMUST00000152766
AA Change: Y172H

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

SMART Domains

Protein: ENSMUSP00000122886
Gene: ENSMUSG00000005882
AA Change: Y172H

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

Predicted Effect

unknown
Transcript: ENSMUST00000139232
AA Change: Y171H

SMART Domains

Protein: ENSMUSP00000123019
Gene: ENSMUSG00000005882
AA Change: Y171H

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152818

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141501

Predicted Effect

probably benign
Transcript: ENSMUST00000151078

Coding Region Coverage

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adm	G	A	7: 110,228,107 (GRCm39)	R96H	probably damaging	Het
Aebp1	C	T	11: 5,819,108 (GRCm39)	T198I	probably benign	Het
Arid3b	A	T	9: 57,702,257 (GRCm39)	I500N	probably damaging	Het
Clec1b	T	A	6: 129,377,043 (GRCm39)	W29R	probably damaging	Het
Cyp2e1	T	C	7: 140,344,874 (GRCm39)		probably null	Het
Dnah5	A	G	15: 28,290,435 (GRCm39)	E1275G	probably null	Het
Dnajc13	A	T	9: 104,067,631 (GRCm39)	I1171N	possibly damaging	Het
Dpf3	T	G	12: 83,371,723 (GRCm39)	T171P	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Hk1	T	C	10: 62,151,173 (GRCm39)	D57G	probably damaging	Het
Kcnc2	T	G	10: 112,297,980 (GRCm39)		probably benign	Het
Kcnj11	A	T	7: 45,748,573 (GRCm39)	F250Y	probably damaging	Het
Kirrel3	C	T	9: 34,939,625 (GRCm39)		probably benign	Het
Lmbrd1	T	C	1: 24,750,683 (GRCm39)		probably null	Het
Mga	T	C	2: 119,772,135 (GRCm39)	V1665A	possibly damaging	Het
Ms4a3	G	T	19: 11,610,199 (GRCm39)	A121E	probably damaging	Het
Nfix	T	C	8: 85,440,415 (GRCm39)	*392W	probably null	Het
Noxred1	C	T	12: 87,268,190 (GRCm39)	V314M	probably damaging	Het
Or2t47	A	T	11: 58,442,560 (GRCm39)	C168*	probably null	Het
Or51aa5	T	A	7: 103,167,472 (GRCm39)	T40S	probably benign	Het
Phospho1	A	G	11: 95,719,548 (GRCm39)		probably benign	Het
Prr5	G	A	15: 84,650,550 (GRCm39)	A237T	probably benign	Het
Rev3l	C	T	10: 39,697,153 (GRCm39)	T550M	probably damaging	Het
Sbf2	A	G	7: 109,965,032 (GRCm39)	F955L	probably benign	Het
Slc38a9	C	T	13: 112,831,787 (GRCm39)	T179M	probably damaging	Het
Trpv5	T	G	6: 41,652,912 (GRCm39)	D87A	probably benign	Het
Tubgcp5	A	G	7: 55,455,836 (GRCm39)	Q288R	possibly damaging	Het
Vmn2r23	T	C	6: 123,718,845 (GRCm39)	F733L	possibly damaging	Het
Vmn2r71	A	G	7: 85,264,827 (GRCm39)	Y53C	probably damaging	Het
Vwa5a	T	A	9: 38,638,266 (GRCm39)	M263K	probably damaging	Het
Zfp503	C	A	14: 22,036,488 (GRCm39)	A143S	probably benign	Het
Zfp958	T	C	8: 4,678,917 (GRCm39)	L314P	probably damaging	Het

Other mutations in Uqcc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R1579:Uqcc1	UTSW	2	155,763,641 (GRCm39)	nonsense	probably null
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

Posted On

2014-05-07