Mutagenetix > Incidental Mutation

Incidental Mutation 'R5838:Uqcc2'

501592

Institutional Source

Beutler Lab

Gene Symbol

Uqcc2

Ensembl Gene

ENSMUSG00000024208

Gene Name

ubiquinol-cytochrome c reductase complex assembly factor 2

Synonyms

Mnf1, Cbp6, 2900010M23Rik

MMRRC Submission

044058-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.747) question?

Stock #

R5838 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

27341639-27352865 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 27344860 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 62 (K62*)

Ref Sequence

ENSEMBL: ENSMUSP00000113777 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025045] [ENSMUST00000049308] [ENSMUST00000118613] [ENSMUST00000119227]

AlphaFold

Q9CQY6

Predicted Effect

probably null
Transcript: ENSMUST00000025045
AA Change: K71*

Predicted Effect

probably benign
Transcript: ENSMUST00000049308

SMART Domains

Protein: ENSMUSP00000038150
Gene: ENSMUSG00000042644

Domain	Start	End	E-Value	Type
MIR	113	167	7.75e-6	SMART
MIR	174	224	1.16e-4	SMART
MIR	232	288	1.21e-7	SMART
MIR	295	402	9.38e-14	SMART
Pfam:RYDR_ITPR	473	670	7.8e-64	PFAM
low complexity region	881	889	N/A	INTRINSIC
Pfam:RYDR_ITPR	1175	1333	5.8e-16	PFAM
low complexity region	1549	1567	N/A	INTRINSIC
low complexity region	1831	1851	N/A	INTRINSIC
Pfam:RIH_assoc	1863	1973	2.6e-34	PFAM
transmembrane domain	2203	2225	N/A	INTRINSIC
Pfam:Ion_trans	2235	2527	8.1e-20	PFAM
coiled coil region	2631	2660	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000118613
AA Change: K32*

Predicted Effect

probably null
Transcript: ENSMUST00000119227
AA Change: K62*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145148

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nucleoid protein localized to the mitochondria inner membrane. The encoded protein affects regulation of insulin secretion, mitochondrial ATP production, and myogenesis through modulation of mitochondrial respiratory chain activity. [provided by RefSeq, Oct 2012]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace	G	A	11: 105,863,706 (GRCm39)	V385I	probably benign	Het
Apmap	T	C	2: 150,427,777 (GRCm39)	Y315C	probably damaging	Het
Arhgef12	G	A	9: 42,916,904 (GRCm39)	T414I	probably damaging	Het
Cd200r1	C	A	16: 44,586,397 (GRCm39)	A9D	possibly damaging	Het
Cdkal1	T	C	13: 29,875,669 (GRCm39)	D183G	probably benign	Het
Clk1	C	A	1: 58,451,819 (GRCm39)	C432F	probably damaging	Het
Col27a1	G	T	4: 63,143,765 (GRCm39)	L484F	probably damaging	Het
Col7a1	A	G	9: 108,807,211 (GRCm39)	E2480G	unknown	Het
Dnah5	A	G	15: 28,290,341 (GRCm39)	I1244V	probably benign	Het
Dock3	G	T	9: 106,772,687 (GRCm39)	P522Q	possibly damaging	Het
Drc1	T	A	5: 30,523,857 (GRCm39)		probably null	Het
Epas1	C	T	17: 87,131,114 (GRCm39)	T298I	possibly damaging	Het
Epha1	A	T	6: 42,338,580 (GRCm39)	I699N	probably damaging	Het
Ephb3	T	C	16: 21,040,437 (GRCm39)	S558P	probably damaging	Het
Epn1	T	A	7: 5,100,165 (GRCm39)	L426*	probably null	Het
Fam234b	T	C	6: 135,202,265 (GRCm39)	V329A	probably benign	Het
Fasn	G	T	11: 120,706,950 (GRCm39)	R901S	probably damaging	Het
Fbln2	T	C	6: 91,248,830 (GRCm39)	M1165T	possibly damaging	Het
Fer1l4	T	C	2: 155,893,913 (GRCm39)	R103G	probably benign	Het
G6pd2	T	A	5: 61,966,568 (GRCm39)	D114E	probably benign	Het
Galnt10	A	G	11: 57,671,882 (GRCm39)	K391E	probably damaging	Het
Gpr150	C	A	13: 76,204,045 (GRCm39)	C300F	probably benign	Het
Hhipl2	A	G	1: 183,204,479 (GRCm39)	T151A	probably damaging	Het
Hmcn2	C	A	2: 31,347,819 (GRCm39)	L4822M	probably damaging	Het
Ifi207	T	A	1: 173,559,953 (GRCm39)	Q173L	unknown	Het
Inca1	T	C	11: 70,580,707 (GRCm39)	E86G	probably damaging	Het
Iqca1	A	G	1: 90,072,667 (GRCm39)	L71P	probably benign	Het
Kank2	G	T	9: 21,706,689 (GRCm39)	Q110K	probably damaging	Het
Katnip	A	T	7: 125,466,827 (GRCm39)	M1361L	possibly damaging	Het
Kif13b	A	T	14: 64,975,004 (GRCm39)	M407L	probably damaging	Het
Kif5a	A	C	10: 127,081,310 (GRCm39)	I208S	probably damaging	Het
Kmt2c	T	C	5: 25,489,469 (GRCm39)	K4490R	probably damaging	Het
Ltbp2	C	T	12: 84,835,875 (GRCm39)	R1352H	probably benign	Het
Macf1	T	C	4: 123,345,947 (GRCm39)	Q2061R	possibly damaging	Het
Marcks	A	G	10: 37,012,163 (GRCm39)	S291P	probably benign	Het
Mccc1	A	G	3: 36,039,231 (GRCm39)	V254A	possibly damaging	Het
Mdn1	C	T	4: 32,754,547 (GRCm39)	R4683W	probably damaging	Het
Mon2	A	G	10: 122,846,397 (GRCm39)		probably null	Het
Ndrg4	A	T	8: 96,433,421 (GRCm39)	H134L	probably damaging	Het
Nek7	C	A	1: 138,462,101 (GRCm39)		probably null	Het
Nlrc3	C	T	16: 3,771,859 (GRCm39)	S151N	probably damaging	Het
Nsl1	C	A	1: 190,802,310 (GRCm39)	A146E	probably benign	Het
Or10a3n	A	T	7: 108,493,292 (GRCm39)	F107L	probably benign	Het
Or2y1e	A	C	11: 49,218,760 (GRCm39)	N174T	probably damaging	Het
Or52ac1	A	G	7: 104,246,104 (GRCm39)	Y95H	probably benign	Het
Or5b120	T	A	19: 13,479,922 (GRCm39)	Y72N	probably damaging	Het
Or6c210	A	T	10: 129,495,907 (GRCm39)	R77S	probably benign	Het
Pde4d	A	C	13: 109,876,976 (GRCm39)	S41R	probably damaging	Het
Phlpp1	T	A	1: 106,274,862 (GRCm39)	L875*	probably null	Het
Pkd1	T	A	17: 24,799,186 (GRCm39)	S2802T	possibly damaging	Het
Polr3b	A	G	10: 84,510,454 (GRCm39)	T500A	probably benign	Het
Ppp2r2c	T	C	5: 37,097,531 (GRCm39)	V239A	probably benign	Het
Pramel11	A	G	4: 143,623,490 (GRCm39)	V228A	probably benign	Het
Reln	T	A	5: 22,104,111 (GRCm39)	I3287F	probably damaging	Het
Scube2	T	C	7: 109,407,651 (GRCm39)	D763G	probably damaging	Het
Setd5	T	C	6: 113,096,396 (GRCm39)	V534A	probably benign	Het
Slc10a4	T	A	5: 73,169,373 (GRCm39)	C333S	probably benign	Het
Slc15a1	G	A	14: 121,722,283 (GRCm39)	A206V	probably damaging	Het
Snx14	A	G	9: 88,273,829 (GRCm39)	L654P	probably damaging	Het
Sowahc	G	A	10: 59,059,012 (GRCm39)	A383T	possibly damaging	Het
Taf1b	A	G	12: 24,550,448 (GRCm39)	D11G	possibly damaging	Het
Tap1	C	T	17: 34,412,279 (GRCm39)	Q164*	probably null	Het
Tbcel	T	A	9: 42,327,168 (GRCm39)	R430W	probably damaging	Het
Trappc11	A	T	8: 47,965,594 (GRCm39)		probably null	Het
Trim15	T	C	17: 37,173,732 (GRCm39)	I259V	probably damaging	Het
Trpt1	T	C	19: 6,975,668 (GRCm39)	S141P	probably damaging	Het
Tsc2	T	A	17: 24,832,190 (GRCm39)	Q732L	probably benign	Het
Tstd3	C	A	4: 21,759,622 (GRCm39)		probably null	Het
Unc13d	T	C	11: 115,955,451 (GRCm39)	K914R	possibly damaging	Het
Unk	A	G	11: 115,940,157 (GRCm39)	E170G	probably damaging	Het
Vim	A	G	2: 13,585,001 (GRCm39)	D394G	probably damaging	Het
Wdr47	G	A	3: 108,532,052 (GRCm39)		probably null	Het

Other mutations in Uqcc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4817:Uqcc2	UTSW	17	27,344,133 (GRCm39)	missense	probably benign	0.42
R9608:Uqcc2	UTSW	17	27,341,709 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CTTTAAAGGCCTCTGCTGGG -3'
(R):5'- CTTTTCATCCCTGGAGGTGAC -3'

Sequencing Primer
(F):5'- TCTCAAAGTGGCAACCAC -3'
(R):5'- TTTCTCAAGAGCTACAGGGGG -3'

Posted On

2017-12-01