Mutagenetix > Incidental Mutation

Incidental Mutation 'R5223:Uqcrc1'

402439

Institutional Source

Beutler Lab

Gene Symbol

Uqcrc1

Ensembl Gene

ENSMUSG00000025651

Gene Name

ubiquinol-cytochrome c reductase core protein 1

Synonyms

1110032G10Rik

MMRRC Submission

042796-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

R5223 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

108765701-108778691 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 108771224 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 95 (H95N)

Ref Sequence

ENSEMBL: ENSMUSP00000026743 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026743] [ENSMUST00000194047] [ENSMUST00000195738]

AlphaFold

Q9CZ13

Predicted Effect

probably damaging
Transcript: ENSMUST00000026743
AA Change: H95N

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

SMART Domains

Protein: ENSMUSP00000026743
Gene: ENSMUSG00000025651
AA Change: H95N

Domain	Start	End	E-Value	Type
low complexity region	17	37	N/A	INTRINSIC
Pfam:Peptidase_M16	58	205	2.1e-54	PFAM
Pfam:Peptidase_M16_C	210	395	3.4e-34	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000192305
AA Change: H12N

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193332

Predicted Effect

probably damaging
Transcript: ENSMUST00000194047
AA Change: H78N

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000141435
Gene: ENSMUSG00000025651
AA Change: H78N

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M16	41	188	7.7e-53	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195387

Predicted Effect

probably benign
Transcript: ENSMUST00000195738
AA Change: N29K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	C	T	11: 119,904,278 (GRCm39)	V273M	possibly damaging	Het
Acin1	CCGC	CC	14: 54,880,398 (GRCm39)		probably null	Het
Acvr1b	T	A	15: 101,091,857 (GRCm39)	C46S	probably damaging	Het
Ahi1	A	T	10: 20,846,818 (GRCm39)	H416L	possibly damaging	Het
Aspm	T	A	1: 139,406,072 (GRCm39)	L1653Q	probably damaging	Het
Cacna1a	G	A	8: 85,313,824 (GRCm39)	V1533M	possibly damaging	Het
Ccdc33	C	T	9: 57,940,267 (GRCm39)	E502K	possibly damaging	Het
Ctnnd1	C	T	2: 84,447,133 (GRCm39)	V371M	probably damaging	Het
Cyp2a12	A	T	7: 26,735,888 (GRCm39)		probably null	Het
Dnai4	T	A	4: 102,906,600 (GRCm39)	S738C	possibly damaging	Het
Ep400	A	G	5: 110,816,496 (GRCm39)	V2675A	probably damaging	Het
Foxh1	T	A	15: 76,552,929 (GRCm39)		probably null	Het
Gad1-ps	G	A	10: 99,281,009 (GRCm39)		noncoding transcript	Het
Gpnmb	C	T	6: 49,033,139 (GRCm39)	T539M	probably benign	Het
Hdac1-ps	A	G	17: 78,799,867 (GRCm39)	E286G	probably benign	Het
Hspa9	A	G	18: 35,085,724 (GRCm39)		probably null	Het
Hspg2	T	C	4: 137,271,225 (GRCm39)	L2454P	probably damaging	Het
Ift140	T	A	17: 25,254,786 (GRCm39)	I422N	probably benign	Het
Igkv6-32	T	C	6: 70,051,207 (GRCm39)	S50G	probably benign	Het
Il23r	T	A	6: 67,463,154 (GRCm39)	Y113F	probably benign	Het
Kcnt1	A	G	2: 25,793,434 (GRCm39)	D636G	probably benign	Het
Klhl41	G	A	2: 69,510,171 (GRCm39)	W569*	probably null	Het
Klra4	T	A	6: 130,039,110 (GRCm39)	D94V	probably damaging	Het
Lca5	T	A	9: 83,280,666 (GRCm39)	H378L	probably benign	Het
Lhx8	T	A	3: 154,027,281 (GRCm39)	T254S	probably damaging	Het
Lrch3	C	T	16: 32,734,767 (GRCm39)	R86W	probably damaging	Het
Lrp2	T	A	2: 69,354,397 (GRCm39)	N477I	probably damaging	Het
Man2a1	T	A	17: 65,019,266 (GRCm39)	I710K	probably benign	Het
Ncor1	A	T	11: 62,229,826 (GRCm39)	Y881N	probably damaging	Het
Nhsl1	T	A	10: 18,402,074 (GRCm39)	V1100E	probably damaging	Het
Oprk1	T	C	1: 5,659,519 (GRCm39)	V83A	probably benign	Het
Or4p8	T	C	2: 88,727,678 (GRCm39)	T88A	probably benign	Het
Or5p62	A	G	7: 107,771,915 (GRCm39)	V12A	probably benign	Het
Or7g35	T	C	9: 19,496,322 (GRCm39)	V163A	probably benign	Het
Pacs1	C	T	19: 5,195,169 (GRCm39)	V472I	probably benign	Het
Pard3b	T	C	1: 62,383,272 (GRCm39)	Y789H	probably damaging	Het
Pcdha2	T	C	18: 37,073,844 (GRCm39)	Y492H	probably damaging	Het
Pcnt	T	C	10: 76,216,106 (GRCm39)	N2261D	probably damaging	Het
Pex5l	A	T	3: 33,012,945 (GRCm39)	S15T	probably damaging	Het
Plekhg4	A	G	8: 106,105,581 (GRCm39)	N682S	probably benign	Het
Poc5	A	T	13: 96,539,463 (GRCm39)	M335L	probably benign	Het
Polr1a	C	T	6: 71,944,891 (GRCm39)	R1316W	possibly damaging	Het
Pp2d1	T	C	17: 53,814,873 (GRCm39)	H617R	probably benign	Het
Pramel24	T	A	4: 143,454,591 (GRCm39)	S296R	probably benign	Het
Prpsap1	T	C	11: 116,378,974 (GRCm39)	K65E	probably benign	Het
Ptgfrn	T	C	3: 100,952,909 (GRCm39)	E775G	probably benign	Het
Ptprc	T	A	1: 138,045,600 (GRCm39)	I87F	probably benign	Het
Rbbp8	C	A	18: 11,854,747 (GRCm39)	A324E	probably benign	Het
Rfx6	G	T	10: 51,554,092 (GRCm39)	G63*	probably null	Het
Rpl37a	T	C	1: 72,751,308 (GRCm39)	M47T	probably benign	Het
Samm50	T	G	15: 84,084,831 (GRCm39)	N187K	probably benign	Het
Skic2	A	G	17: 35,064,142 (GRCm39)		probably null	Het
Slamf9	T	C	1: 172,303,799 (GRCm39)	I48T	possibly damaging	Het
Slc2a12	A	G	10: 22,577,931 (GRCm39)	K576E	probably damaging	Het
Slc4a10	G	A	2: 62,083,710 (GRCm39)	G388S	probably damaging	Het
Smtn	G	T	11: 3,479,530 (GRCm39)	N512K	probably benign	Het
Sntb1	C	G	15: 55,506,191 (GRCm39)	G461R	probably damaging	Het
Sspo	A	G	6: 48,455,258 (GRCm39)	Y3040C	probably damaging	Het
Stat1	T	A	1: 52,183,401 (GRCm39)	V389E	probably damaging	Het
Sult5a1	A	T	8: 123,872,161 (GRCm39)	M227K	probably damaging	Het
Thsd4	T	C	9: 59,964,325 (GRCm39)	D389G	probably damaging	Het
Tnxb	T	C	17: 34,923,052 (GRCm39)	V2545A	possibly damaging	Het
Tpo	T	A	12: 30,142,589 (GRCm39)	I712F	probably damaging	Het
Trim62	T	C	4: 128,803,204 (GRCm39)	V418A	probably damaging	Het
Vmn2r114	ATTT	ATT	17: 23,509,906 (GRCm39)		probably null	Het
Vmn2r66	T	C	7: 84,657,093 (GRCm39)	D104G	probably benign	Het
Wdr26	T	C	1: 181,015,251 (GRCm39)	I371V	probably benign	Het
Zfp273	T	G	13: 67,974,298 (GRCm39)	C475W	probably damaging	Het
Zfp738	G	T	13: 67,821,182 (GRCm39)	T55K	probably damaging	Het
Zmym2	A	G	14: 57,183,971 (GRCm39)	I978V	probably benign	Het

Other mutations in Uqcrc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01309:Uqcrc1	APN	9	108,778,026 (GRCm39)	missense	possibly damaging	0.62
IGL02332:Uqcrc1	APN	9	108,776,937 (GRCm39)	missense	probably damaging	1.00
IGL02698:Uqcrc1	APN	9	108,777,011 (GRCm39)	critical splice donor site	probably null
R0313:Uqcrc1	UTSW	9	108,777,642 (GRCm39)	missense	possibly damaging	0.69
R0743:Uqcrc1	UTSW	9	108,773,773 (GRCm39)	nonsense	probably null
R2027:Uqcrc1	UTSW	9	108,776,083 (GRCm39)	missense	probably benign	0.06
R2513:Uqcrc1	UTSW	9	108,765,836 (GRCm39)	missense	probably damaging	1.00
R4680:Uqcrc1	UTSW	9	108,776,929 (GRCm39)	missense	probably damaging	1.00
R4993:Uqcrc1	UTSW	9	108,773,878 (GRCm39)	missense	probably damaging	1.00
R5716:Uqcrc1	UTSW	9	108,776,473 (GRCm39)	missense	probably benign
R5941:Uqcrc1	UTSW	9	108,776,554 (GRCm39)	unclassified	probably benign
R6274:Uqcrc1	UTSW	9	108,771,224 (GRCm39)	missense	probably damaging	1.00
R6598:Uqcrc1	UTSW	9	108,776,690 (GRCm39)	missense	possibly damaging	0.93
R7132:Uqcrc1	UTSW	9	108,778,536 (GRCm39)	missense	probably damaging	0.98
R7150:Uqcrc1	UTSW	9	108,776,926 (GRCm39)	missense	probably benign	0.02
R7524:Uqcrc1	UTSW	9	108,765,827 (GRCm39)	missense	possibly damaging	0.48
R8708:Uqcrc1	UTSW	9	108,776,108 (GRCm39)	missense	probably damaging	0.97
R8889:Uqcrc1	UTSW	9	108,766,186 (GRCm39)	missense	probably damaging	1.00
R8892:Uqcrc1	UTSW	9	108,766,186 (GRCm39)	missense	probably damaging	1.00
R8975:Uqcrc1	UTSW	9	108,776,721 (GRCm39)	missense	probably damaging	1.00
R9136:Uqcrc1	UTSW	9	108,776,973 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- TGTCCCTCTGATTGTAGGAGTC -3'
(R):5'- AGGGCTCATCAGATAAGCAC -3'

Sequencing Primer
(F):5'- AGTCTTAATGGAGCAGCTCTC -3'
(R):5'- GCACTCACTCACAAGAACTTTTGG -3'

Posted On

2016-07-22