Mutagenetix > Incidental Mutation

Incidental Mutation 'R6274:Uqcrc1'

507531

Institutional Source

Beutler Lab

Gene Symbol

Uqcrc1

Ensembl Gene

ENSMUSG00000025651

Gene Name

ubiquinol-cytochrome c reductase core protein 1

Synonyms

1110032G10Rik

MMRRC Submission

044444-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

R6274 (G1)

Quality Score

225.009

Status

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: 99.9%
3x: 99.6%
10x: 97.9%
20x: 94.1%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank3	G	A	10: 69,838,395 (GRCm39)	R1566K	possibly damaging	Het
Ano1	A	T	7: 144,172,600 (GRCm39)	S528T	probably benign	Het
Araf	G	T	X: 20,726,339 (GRCm39)	R601L	probably damaging	Homo
Bcl2l10	T	C	9: 75,258,354 (GRCm39)	I172T	possibly damaging	Het
Bpifb3	A	T	2: 153,771,243 (GRCm39)	N385I	possibly damaging	Het
Bsnd	A	G	4: 106,343,832 (GRCm39)	V158A	probably damaging	Het
Cacna1s	A	G	1: 136,016,783 (GRCm39)	N481S	probably benign	Het
Cdk5rap1	A	G	2: 154,210,161 (GRCm39)	V138A	probably damaging	Het
Cep290	A	G	10: 100,366,069 (GRCm39)	E1099G	probably damaging	Het
Cers1	T	A	8: 70,783,727 (GRCm39)	L225Q	probably damaging	Het
Cfb	T	C	17: 35,081,069 (GRCm39)	Q7R	probably benign	Het
Clk4	A	G	11: 51,162,748 (GRCm39)	S98G	possibly damaging	Het
Clock	A	G	5: 76,385,000 (GRCm39)	S406P	probably benign	Het
Csmd3	T	C	15: 47,484,833 (GRCm39)	I3178V	probably benign	Het
Dock10	A	G	1: 80,516,540 (GRCm39)	S1397P	probably damaging	Het
Fer1l4	A	G	2: 155,871,188 (GRCm39)	L1421P	probably damaging	Het
Fetub	C	T	16: 22,751,081 (GRCm39)	R143C	probably damaging	Het
Greb1	G	T	12: 16,785,152 (GRCm39)	T91K	probably damaging	Het
Grid2ip	G	A	5: 143,366,184 (GRCm39)	S379N	probably damaging	Het
Gucy1b2	A	T	14: 62,653,388 (GRCm39)	C336S	probably damaging	Het
Hdac1	A	G	4: 129,412,902 (GRCm39)	C261R	probably damaging	Het
Htt	T	C	5: 35,009,431 (GRCm39)	S1471P	possibly damaging	Het
Ice1	A	G	13: 70,742,958 (GRCm39)	V2134A	probably damaging	Het
Ikzf1	C	T	11: 11,718,961 (GRCm39)	Q310*	probably null	Het
Il3ra	G	A	14: 14,350,180 (GRCm38)	V112I	probably benign	Het
Kif21b	A	G	1: 136,077,156 (GRCm39)	I393V	possibly damaging	Het
Krt74	T	C	15: 101,671,872 (GRCm39)		noncoding transcript	Het
Krtap29-1	T	C	11: 99,869,809 (GRCm39)	N24S	probably null	Het
Mmut	T	C	17: 41,267,136 (GRCm39)	V570A	probably benign	Het
Myh7	T	C	14: 55,216,943 (GRCm39)	D1138G	probably damaging	Het
Nktr	T	C	9: 121,560,631 (GRCm39)	I125T	probably damaging	Het
Nlrp2	A	T	7: 5,320,554 (GRCm39)	L861Q	probably damaging	Het
Notch3	C	A	17: 32,366,264 (GRCm39)	R990L	probably benign	Het
Nrap	T	C	19: 56,350,153 (GRCm39)	D655G	probably benign	Het
Or10ak8	A	T	4: 118,774,427 (GRCm39)	V79E	probably benign	Het
Or5b99	G	A	19: 12,977,234 (GRCm39)	V295I	probably damaging	Het
Osbpl11	T	A	16: 33,047,426 (GRCm39)	I463N	probably damaging	Het
Pcsk6	A	T	7: 65,683,592 (GRCm39)	R749W	probably damaging	Het
Plaat5	C	T	19: 7,614,831 (GRCm39)	T231I	probably damaging	Het
Plxnb1	T	C	9: 108,941,209 (GRCm39)		probably null	Het
Polr1a	T	A	6: 71,931,874 (GRCm39)		probably null	Het
Ppm1g	T	C	5: 31,363,750 (GRCm39)	I153V	probably damaging	Het
Ppp1r12a	T	C	10: 108,096,751 (GRCm39)	S191P	probably benign	Het
Prodh	T	C	16: 17,898,922 (GRCm39)	K178E	possibly damaging	Het
Rilpl2	A	G	5: 124,607,911 (GRCm39)	V103A	possibly damaging	Het
Sap18b	C	T	8: 96,552,169 (GRCm39)	H60Y	probably benign	Het
Sclt1	A	G	3: 41,583,951 (GRCm39)		probably null	Het
Serpinb1a	G	T	13: 33,026,849 (GRCm39)	H364Q	probably damaging	Het
Sez6l	G	A	5: 112,623,231 (GRCm39)	Q107*	probably null	Het
Sipa1l2	C	T	8: 126,196,611 (GRCm39)	V708I	probably damaging	Het
Tbc1d2	C	T	4: 46,629,912 (GRCm39)	G252R	probably benign	Het
Uaca	T	A	9: 60,757,573 (GRCm39)		probably null	Het
Usp9y	C	T	Y: 1,316,735 (GRCm39)	R1938H	probably damaging	Homo
Wnk4	C	T	11: 101,156,257 (GRCm39)	R42W	probably damaging	Het
Zfp326	T	A	5: 106,053,846 (GRCm39)	L242Q	probably damaging	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
R5223:Uqcrc1	UTSW	9	108,771,224 (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
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'- CAGGGCTCATCAGATAAGCAC -3'

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

Posted On

2018-03-15