Mutagenetix > Incidental Mutations

Incidental Mutation 'R0743:Uqcrc1'

70787

Institutional Source

Beutler Lab

Gene Symbol

Uqcrc1

Ensembl Gene

ENSMUSG00000025651

Gene Name

ubiquinol-cytochrome c reductase core protein 1

Synonyms

1110032G10Rik

MMRRC Submission

038924-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R0743 (G1)

Quality Score

197

Status

Not validated

Chromosome

Chromosomal Location

108936633-108949623 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 108944705 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 22 (Q22*)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026743] [ENSMUST00000194047] [ENSMUST00000194469] [ENSMUST00000195738]

AlphaFold

Q9CZ13

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026743
AA Change: A148V

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000026743
Gene: ENSMUSG00000025651
AA Change: A148V

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

probably null
Transcript: ENSMUST00000192305
AA Change: Q22*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192918

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193332

Predicted Effect

possibly damaging
Transcript: ENSMUST00000194047
AA Change: A131V

PolyPhen 2 Score 0.748 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000141435
Gene: ENSMUSG00000025651
AA Change: A131V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000194469

SMART Domains

Protein: ENSMUSP00000141743
Gene: ENSMUSG00000025651

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M16_C	1	94	5.4e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195387

Predicted Effect

probably benign
Transcript: ENSMUST00000195738

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 96.7%
20x: 92.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	A	T	14: 118,553,288	I844N	possibly damaging	Het
Bend7	A	T	2: 4,744,244	K57N	probably damaging	Het
Cacna2d4	C	T	6: 119,307,286	R745W	probably damaging	Het
Csmd2	A	T	4: 128,113,676	T149S	probably benign	Het
Cyp2a12	T	C	7: 27,032,542	I236T	probably benign	Het
Dnase1l2	A	G	17: 24,441,880	V170A	possibly damaging	Het
Dnm2	T	A	9: 21,500,265	Y597N	probably damaging	Het
Epsti1	A	T	14: 77,931,275	R117S	probably damaging	Het
Gabarapl2	A	T	8: 111,942,505	I32F	probably damaging	Het
Glrb	T	A	3: 80,879,680	I59F	probably damaging	Het
Gm13089	A	T	4: 143,698,564	I103N	probably damaging	Het
Gm17689	T	C	9: 36,581,301	S103G	probably benign	Het
Gosr1	A	G	11: 76,730,146	I239T	probably benign	Het
Kif5b	G	T	18: 6,209,192	R857S	probably damaging	Het
Kmt5a	C	A	5: 124,447,219	N44K	probably damaging	Het
Ksr1	A	T	11: 79,021,503	H675Q	possibly damaging	Het
Maats1	A	G	16: 38,335,634	F76L	possibly damaging	Het
Mep1b	A	G	18: 21,080,458	D68G	possibly damaging	Het
Nebl	A	C	2: 17,411,118	S327A	probably benign	Het
Nfat5	G	A	8: 107,368,066	E962K	probably damaging	Het
Nfatc4	A	C	14: 55,826,644	D126A	probably damaging	Het
Nmt2	A	T	2: 3,314,785	R271*	probably null	Het
Nol7	G	A	13: 43,400,615	V133I	probably benign	Het
Npepps	A	G	11: 97,206,058		probably benign	Het
Nphp3	GCATCATCATCATCATC	GCATCATCATCATC	9: 104,022,768		probably benign	Het
Olfr1100	G	A	2: 86,978,499	T99I	probably benign	Het
Olfr376	A	T	11: 73,374,889	I47F	probably benign	Het
Olfr610	C	T	7: 103,506,862	W28*	probably null	Het
Olfr798	T	A	10: 129,625,843	T73S	probably benign	Het
Ovgp1	T	A	3: 105,974,932	L37H	probably damaging	Het
Padi3	G	T	4: 140,786,429	A646D	probably benign	Het
Pamr1	A	G	2: 102,609,907	E142G	probably damaging	Het
Papolg	A	T	11: 23,870,818		probably null	Het
Pfkl	C	T	10: 77,995,243		probably null	Het
Plrg1	T	C	3: 83,059,917	S132P	probably benign	Het
Prr14l	C	A	5: 32,831,194	C319F	possibly damaging	Het
Prtn3	T	A	10: 79,879,677	M1K	probably null	Het
Ptpn22	T	C	3: 103,902,171	F700S	probably damaging	Het
Ptprz1	C	T	6: 23,044,367	Q1273*	probably null	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Ryr2	T	C	13: 11,554,529	D4963G	probably damaging	Het
Sec16a	G	A	2: 26,419,722	L2091F	possibly damaging	Het
Senp6	C	T	9: 80,093,589	R27C	probably damaging	Het
Shcbp1	T	A	8: 4,764,906	M191L	probably benign	Het
Sirt4	T	C	5: 115,482,955	K53E	probably benign	Het
Slc10a2	A	G	8: 5,089,132	S271P	probably damaging	Het
Slc35b2	T	A	17: 45,566,825	F293I	probably damaging	Het
Slc38a10	C	T	11: 120,140,643	V103M	probably damaging	Het
St5	A	G	7: 109,557,345	L66P	probably damaging	Het
Stab2	T	A	10: 86,887,895	I1479F	probably damaging	Het
Synpo2	A	G	3: 123,112,706	V987A	probably benign	Het
Syt9	A	G	7: 107,436,561	I262V	probably damaging	Het
Taf2	GCTTCTTCTTCTTCTTCTT	GCTTCTTCTTCTTCTT	15: 55,016,461		probably benign	Het
Tmem39a	A	T	16: 38,585,402	I200F	probably damaging	Het
Ttn	G	A	2: 76,749,269	T23760M	probably damaging	Het
Wdtc1	A	G	4: 133,300,661	W377R	probably damaging	Het
Zfp454	A	G	11: 50,873,937	S223P	probably benign	Het

Other mutations in Uqcrc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01309:Uqcrc1	APN	9	108948958	missense	possibly damaging	0.62
IGL02332:Uqcrc1	APN	9	108947869	missense	probably damaging	1.00
IGL02698:Uqcrc1	APN	9	108947943	critical splice donor site	probably null
R0313:Uqcrc1	UTSW	9	108948574	missense	possibly damaging	0.69
R2027:Uqcrc1	UTSW	9	108947015	missense	probably benign	0.06
R2513:Uqcrc1	UTSW	9	108936768	missense	probably damaging	1.00
R4680:Uqcrc1	UTSW	9	108947861	missense	probably damaging	1.00
R4993:Uqcrc1	UTSW	9	108944810	missense	probably damaging	1.00
R5223:Uqcrc1	UTSW	9	108942156	missense	probably damaging	1.00
R5716:Uqcrc1	UTSW	9	108947405	missense	probably benign
R5941:Uqcrc1	UTSW	9	108947486	unclassified	probably benign
R6274:Uqcrc1	UTSW	9	108942156	missense	probably damaging	1.00
R6598:Uqcrc1	UTSW	9	108947622	missense	possibly damaging	0.93
R7132:Uqcrc1	UTSW	9	108949468	missense	probably damaging	0.98
R7150:Uqcrc1	UTSW	9	108947858	missense	probably benign	0.02
R7524:Uqcrc1	UTSW	9	108936759	missense	possibly damaging	0.48
R8708:Uqcrc1	UTSW	9	108947040	missense	probably damaging	0.97
R8889:Uqcrc1	UTSW	9	108937118	missense	probably damaging	1.00
R8892:Uqcrc1	UTSW	9	108937118	missense	probably damaging	1.00
R8975:Uqcrc1	UTSW	9	108947653	missense	probably damaging	1.00
R9136:Uqcrc1	UTSW	9	108947905	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- CACCGACATTATCTCTACTGGCACC -3'
(R):5'- TGATGGGGACATGCACACTTCAC -3'

Sequencing Primer
(F):5'- gtctgttccttctttgtgcc -3'
(R):5'- CTGACGTTCTCACTGGGC -3'

Posted On

2013-09-30