Mutagenetix > Incidental Mutation

Incidental Mutation 'R9366:Uqcc1'

708953

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.910) question?

Stock #

R9366 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

155688814-155772230 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to A at 155771995 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000125200 (fasta)

Gene Model

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

AlphaFold

Q9CWU6

Predicted Effect

probably benign
Transcript: ENSMUST00000006036

SMART Domains

Protein: ENSMUSP00000006036
Gene: ENSMUSG00000005882

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

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 benign
Transcript: ENSMUST00000109636

SMART Domains

Protein: ENSMUSP00000105264
Gene: ENSMUSG00000005882

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

Predicted Effect

probably benign
Transcript: ENSMUST00000133726

Predicted Effect

probably benign
Transcript: ENSMUST00000136933

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: ENSMUST00000142655

Predicted Effect

probably benign
Transcript: ENSMUST00000151078

Predicted Effect

probably benign
Transcript: ENSMUST00000152766

SMART Domains

Protein: ENSMUSP00000122886
Gene: ENSMUSG00000005882

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

Predicted Effect

probably benign
Transcript: ENSMUST00000159238

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd8	C	T	8: 71,914,328 (GRCm39)	R100Q	probably benign	Het
Acp5	C	T	9: 22,039,224 (GRCm39)	C163Y	probably damaging	Het
Ankrd17	C	T	5: 90,416,508 (GRCm39)	R1108Q	probably damaging	Het
Atp2b4	C	A	1: 133,642,920 (GRCm39)	G1062C	probably damaging	Het
Bicral	A	T	17: 47,117,558 (GRCm39)	M788K	possibly damaging	Het
C1s2	C	A	6: 124,602,694 (GRCm39)	A506S	probably benign	Het
Capn9	C	G	8: 125,332,280 (GRCm39)	T417S	probably benign	Het
Cd109	T	G	9: 78,622,275 (GRCm39)	S1422A	probably benign	Het
Cd207	G	T	6: 83,648,779 (GRCm39)	N294K	probably damaging	Het
Cdc42bpa	A	G	1: 179,921,675 (GRCm39)	E605G	probably damaging	Het
Cdhr1	C	A	14: 36,811,463 (GRCm39)	G216V	possibly damaging	Het
Ckap2	A	T	8: 22,658,988 (GRCm39)	M585K	possibly damaging	Het
Clp1	G	T	2: 84,556,473 (GRCm39)	S2R	probably benign	Het
Cngb3	G	T	4: 19,395,983 (GRCm39)	V342F	probably benign	Het
Col18a1	T	C	10: 76,932,258 (GRCm39)	D65G	unknown	Het
Col3a1	C	T	1: 45,380,391 (GRCm39)	P972S	unknown	Het
Cxcr5	C	T	9: 44,424,730 (GRCm39)	C309Y	possibly damaging	Het
Cyp2t4	G	A	7: 26,854,717 (GRCm39)	V66M	possibly damaging	Het
Dcc	A	T	18: 71,708,281 (GRCm39)	N478K	probably damaging	Het
Emb	G	T	13: 117,357,096 (GRCm39)		probably benign	Het
Emsy	A	T	7: 98,290,860 (GRCm39)	N101K	probably benign	Het
Epb41l5	A	G	1: 119,548,448 (GRCm39)	Y137H	probably damaging	Het
Etfdh	C	T	3: 79,519,271 (GRCm39)	G354D	probably benign	Het
Fa2h	A	T	8: 112,076,006 (GRCm39)	Y206N	probably benign	Het
Gabrr2	T	C	4: 33,085,771 (GRCm39)	V217A		Het
Gimap4	A	G	6: 48,668,037 (GRCm39)	K264R	probably benign	Het
Gpr31b	C	A	17: 13,270,375 (GRCm39)	D265Y	probably damaging	Het
Irx4	A	G	13: 73,417,025 (GRCm39)	T474A	probably benign	Het
Kif21a	T	C	15: 90,843,951 (GRCm39)	E1096G	probably damaging	Het
Letm2	A	T	8: 26,084,165 (GRCm39)	V22E	probably damaging	Het
Lrrc45	A	G	11: 120,611,552 (GRCm39)	E642G	probably damaging	Het
Mark1	A	T	1: 184,653,792 (GRCm39)	V170E	probably damaging	Het
Mbd6	G	A	10: 127,122,304 (GRCm39)	Q175*	probably null	Het
Mrc1	T	A	2: 14,321,709 (GRCm39)	D1067E	probably damaging	Het
Muc5b	A	G	7: 141,417,041 (GRCm39)	H3329R	probably benign	Het
Myh1	A	T	11: 67,110,114 (GRCm39)	D1434V	probably damaging	Het
Myo5a	T	A	9: 75,124,800 (GRCm39)	L1785Q	probably damaging	Het
Myrfl	A	G	10: 116,670,358 (GRCm39)	I295T	possibly damaging	Het
Nav3	C	A	10: 109,659,364 (GRCm39)	R751L	probably damaging	Het
Neb	T	C	2: 52,172,699 (GRCm39)	K1536R	probably benign	Het
Nynrin	T	G	14: 56,100,587 (GRCm39)	S126A	probably damaging	Het
Or13p3	A	T	4: 118,566,831 (GRCm39)	T76S	probably damaging	Het
Or5m8	A	G	2: 85,822,731 (GRCm39)	D190G	possibly damaging	Het
Or6c69c	A	T	10: 129,911,067 (GRCm39)	K263*	probably null	Het
Parp14	A	C	16: 35,659,630 (GRCm39)		probably null	Het
Phldb1	G	T	9: 44,622,546 (GRCm39)	L36M	possibly damaging	Het
Pin1	C	A	9: 20,566,841 (GRCm39)	T81N	probably damaging	Het
Pkhd1l1	T	C	15: 44,410,308 (GRCm39)	I2605T	probably benign	Het
Plcb3	A	G	19: 6,937,658 (GRCm39)		probably null	Het
Proser3	G	A	7: 30,248,478 (GRCm39)	S72L	probably damaging	Het
Pum2	T	A	12: 8,783,344 (GRCm39)	S598T	probably benign	Het
Pwp1	T	A	10: 85,717,870 (GRCm39)	N269K	probably damaging	Het
Qsox1	A	G	1: 155,665,162 (GRCm39)	S260P	probably benign	Het
Ric3	A	G	7: 108,653,644 (GRCm39)	L149P	probably damaging	Het
Rif1	A	G	2: 52,010,356 (GRCm39)	T707A		Het
Rnf213	A	C	11: 119,327,057 (GRCm39)	R1682S		Het
Rpgrip1l	G	T	8: 91,996,809 (GRCm39)	Y690*	probably null	Het
Slc29a2	A	G	19: 5,074,609 (GRCm39)	T34A	probably damaging	Het
Slc6a1	A	G	6: 114,280,974 (GRCm39)	N176S	possibly damaging	Het
Slco1b2	T	A	6: 141,602,552 (GRCm39)	Y168*	probably null	Het
Snca	C	A	6: 60,792,675 (GRCm39)	A78S	probably benign	Het
Snrnp200	T	A	2: 127,058,010 (GRCm39)	D257E	probably benign	Het
Srebf2	T	C	15: 82,083,837 (GRCm39)	V959A	probably benign	Het
Stk3	A	C	15: 35,072,634 (GRCm39)	I209S	probably damaging	Het
Thsd7a	A	T	6: 12,555,480 (GRCm39)	C135S		Het
Tlnrd1	G	T	7: 83,531,582 (GRCm39)	A283E	probably benign	Het
Tomm70a	A	T	16: 56,970,259 (GRCm39)	K546*	probably null	Het
Trak1	C	T	9: 121,301,578 (GRCm39)	T778I	probably damaging	Het
Trappc9	T	C	15: 72,808,937 (GRCm39)	I709V	probably benign	Het
Trgc3	A	G	13: 19,446,825 (GRCm39)	T115A	probably benign	Het
Trp53rkb	T	C	2: 166,637,700 (GRCm39)	S219P	possibly damaging	Het
Ubqlnl	G	C	7: 103,798,592 (GRCm39)	L302V	possibly damaging	Het
Vps13a	G	A	19: 16,672,894 (GRCm39)	R1293W	probably damaging	Het
Vps9d1	G	T	8: 123,974,486 (GRCm39)	S267*	probably null	Het
Vwa5b1	A	T	4: 138,318,229 (GRCm39)	I546N	probably damaging	Het
Zbtb8b	A	T	4: 129,326,151 (GRCm39)	M338K	probably benign	Het
Zfp652	C	T	11: 95,643,833 (GRCm39)	R344*	probably null	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
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
R9412:Uqcc1	UTSW	2	155,693,329 (GRCm39)	missense	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- AGGTGCTTCAGTTTCCCTGG -3'
(R):5'- GAAGAACGTGAGCCCTTGTGAC -3'

Sequencing Primer
(F):5'- GACCACGCAAAGGAGCTACAG -3'
(R):5'- GCCCTTGTGACGCGCAG -3'

Posted On

2022-04-18