Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02883:Uqcc1'

362895

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 #

IGL02883

Quality Score

Status

Chromosome

Chromosomal Location

155688814-155772230 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 155753749 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 42 (Q42L)

Ref Sequence

ENSEMBL: ENSMUSP00000116390 (fasta)

Gene Model

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

AlphaFold

Q9CWU6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000006036
AA Change: Q42L

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000006036
Gene: ENSMUSG00000005882
AA Change: Q42L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000109631

SMART Domains

Protein: ENSMUSP00000105259
Gene: ENSMUSG00000005882

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109632
AA Change: Q42L

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000105260
Gene: ENSMUSG00000005882
AA Change: Q42L

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 benign
Transcript: ENSMUST00000109636
AA Change: Q42L

PolyPhen 2 Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000105264
Gene: ENSMUSG00000005882
AA Change: Q42L

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

possibly damaging
Transcript: ENSMUST00000133726
AA Change: Q42L

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000136933
AA Change: Q42L

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000152766
AA Change: Q36L

PolyPhen 2 Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000122886
Gene: ENSMUSG00000005882
AA Change: Q36L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000142655

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155680

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162749

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162258

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146995

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141501

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152818

Predicted Effect

probably benign
Transcript: ENSMUST00000159238

Predicted Effect

probably benign
Transcript: ENSMUST00000139232

SMART Domains

Protein: ENSMUSP00000123019
Gene: ENSMUSG00000005882

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

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	C	A	19: 3,766,972 (GRCm39)	S186R	possibly damaging	Het
Acap2	A	G	16: 30,915,163 (GRCm39)		probably benign	Het
Cacna1h	G	T	17: 25,599,506 (GRCm39)	R1726S	probably damaging	Het
Cdca2	T	C	14: 67,944,946 (GRCm39)	S133G	probably damaging	Het
Cep295nl	A	T	11: 118,224,735 (GRCm39)	S36R	probably benign	Het
Crispld1	A	G	1: 17,817,013 (GRCm39)	N190S	possibly damaging	Het
Crtam	A	G	9: 40,905,797 (GRCm39)	V44A	probably benign	Het
Crtc1	C	T	8: 70,858,775 (GRCm39)	G112S	probably benign	Het
Cyp17a1	T	C	19: 46,657,790 (GRCm39)	N254S	probably benign	Het
Dmrta1	T	C	4: 89,577,011 (GRCm39)	S156P	probably benign	Het
Eno2	A	C	6: 124,743,172 (GRCm39)	V188G	probably damaging	Het
Fam20a	A	T	11: 109,565,953 (GRCm39)	I427N	probably damaging	Het
Fat2	T	C	11: 55,147,444 (GRCm39)	K3933E	probably benign	Het
Igkv8-30	T	C	6: 70,094,601 (GRCm39)	M1V	probably null	Het
Ist1	G	A	8: 110,410,300 (GRCm39)		probably benign	Het
Kank4	T	C	4: 98,661,690 (GRCm39)	E765G	possibly damaging	Het
Kat14	T	C	2: 144,235,449 (GRCm39)	L92S	probably damaging	Het
Kcnu1	G	A	8: 26,339,855 (GRCm39)	V58I	probably benign	Het
Lrba	T	A	3: 86,261,513 (GRCm39)	V1489E	probably damaging	Het
Lrba	T	A	3: 86,352,720 (GRCm39)	I1956N	probably damaging	Het
Mdn1	G	A	4: 32,763,199 (GRCm39)	V5100I	probably benign	Het
Mkrn2os	C	A	6: 115,563,670 (GRCm39)	G122*	probably null	Het
Nme3	T	C	17: 25,115,880 (GRCm39)	Y78H	probably benign	Het
Pira13	A	G	7: 3,825,179 (GRCm39)	S488P	possibly damaging	Het
Pkd1l2	G	A	8: 117,792,484 (GRCm39)	T436I	probably benign	Het
Ppp2r5c	T	G	12: 110,488,997 (GRCm39)	V56G	possibly damaging	Het
Pramel16	T	C	4: 143,676,418 (GRCm39)	T229A	possibly damaging	Het
Prdm10	G	A	9: 31,238,644 (GRCm39)	V179M	probably damaging	Het
Rab11fip2	A	G	19: 59,895,430 (GRCm39)	V344A	probably damaging	Het
Selp	G	A	1: 163,957,671 (GRCm39)	A267T	probably benign	Het
Sf3a1	T	A	11: 4,129,192 (GRCm39)	W718R	probably damaging	Het
Taar9	T	C	10: 23,985,378 (GRCm39)	N19D	probably benign	Het
Tas2r113	T	G	6: 132,870,382 (GRCm39)	S137A	probably damaging	Het
Traf4	A	T	11: 78,052,447 (GRCm39)	I66N	possibly damaging	Het
Ucp3	A	T	7: 100,129,849 (GRCm39)	T164S	probably benign	Het
Uggt1	A	T	1: 36,216,696 (GRCm39)	N96K	probably benign	Het
Vmn1r128	A	G	7: 21,083,440 (GRCm39)	K48R	probably benign	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
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

2015-12-18