Mutagenetix > Incidental Mutations

Incidental Mutation 'R8975:Uqcrc1'

683390

Institutional Source

Beutler Lab

Gene Symbol

Uqcrc1

Ensembl Gene

ENSMUSG00000025651

Gene Name

ubiquinol-cytochrome c reductase core protein 1

Synonyms

1110032G10Rik

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.958) question?

Stock #

R8975 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

108936633-108949623 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108947653 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 341 (F341S)

Ref Sequence

ENSEMBL: ENSMUSP00000026743 (fasta)

Gene Model

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

AlphaFold

Q9CZ13

Predicted Effect

probably damaging
Transcript: ENSMUST00000026743
AA Change: F341S

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

SMART Domains

Protein: ENSMUSP00000026743
Gene: ENSMUSG00000025651
AA Change: F341S

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 benign
Transcript: ENSMUST00000192305

Predicted Effect

probably benign
Transcript: ENSMUST00000194047

SMART Domains

Protein: ENSMUSP00000141435
Gene: ENSMUSG00000025651

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000194469
AA Change: F40S

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

SMART Domains

Protein: ENSMUSP00000141743
Gene: ENSMUSG00000025651
AA Change: F40S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000195738

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001P01Rik	A	T	11: 97,772,746	Y93N	probably damaging	Het
1700018F24Rik	A	G	5: 145,043,382	D47G	probably damaging	Het
4921507P07Rik	C	T	6: 50,584,411	R176H	probably damaging	Het
4930550C14Rik	A	T	9: 53,422,958	K167M	possibly damaging	Het
Abhd16b	A	G	2: 181,494,013	N236S	probably benign	Het
Ahnak	T	G	19: 9,012,737	V3795G	probably damaging	Het
Atg2b	A	T	12: 105,636,466	M1606K	probably damaging	Het
Bmt2	A	T	6: 13,630,612	I187K	probably damaging	Het
Cep250	C	T	2: 155,970,122	A446V	unknown	Het
Cep290	A	G	10: 100,513,920	N610D	possibly damaging	Het
Ctps	C	T	4: 120,549,546	D338N	probably benign	Het
Ctsz	A	T	2: 174,433,628	I118N	probably benign	Het
Depdc1b	A	G	13: 108,388,560	E483G	probably null	Het
Dhh	T	C	15: 98,898,095	S60G	probably damaging	Het
Dpy19l1	T	C	9: 24,447,806	K162R	probably damaging	Het
Dynap	T	C	18: 70,242,022	T41A	possibly damaging	Het
Dyrk4	T	C	6: 126,894,820	N162D	probably benign	Het
Eml5	T	A	12: 98,810,570	T1429S	probably damaging	Het
Fbn2	C	T	18: 58,153,856	G244R	probably damaging	Het
Fer1l5	A	G	1: 36,417,816	D1625G	probably benign	Het
Frmd4b	G	A	6: 97,306,516	T484M	possibly damaging	Het
Gm11487	A	G	4: 73,401,930	L204P	probably damaging	Het
Gm11639	A	G	11: 105,063,589	K5090E	probably benign	Het
Hhat	T	C	1: 192,748,942	E33G	probably damaging	Het
Ifngr1	A	G	10: 19,609,612	D453G	probably damaging	Het
Itpr3	T	A	17: 27,116,654	I2246N	possibly damaging	Het
Larp4b	T	G	13: 9,145,501	I212S	probably damaging	Het
Lilra5	T	C	7: 4,238,637	V145A	probably benign	Het
Map1lc3a	A	G	2: 155,277,006	K30R	possibly damaging	Het
Mapk8ip1	A	G	2: 92,384,821	Y652H	probably damaging	Het
Med23	A	G	10: 24,904,436	E994G	probably benign	Het
Mep1b	A	T	18: 21,075,657	D30V	probably benign	Het
Mki67	T	C	7: 135,698,400	D1635G	probably benign	Het
Mki67	C	A	7: 135,695,635	A2557S	possibly damaging	Het
Mup3	A	T	4: 62,085,235	D132E	probably benign	Het
Myo15b	A	T	11: 115,890,954	T2830S	unknown	Het
Myocd	T	A	11: 65,178,461	H979L	probably damaging	Het
Nvl	A	T	1: 181,130,436	N260K	probably benign	Het
Olfr463	T	A	11: 87,893,819	Y35F	probably damaging	Het
Olfr47	T	A	6: 43,236,122	H171Q	probably benign	Het
Olfr715b	T	A	7: 107,106,457	T135S	probably benign	Het
Pdha2	C	A	3: 141,211,888		probably benign	Het
Peg10	GC	GCTCC	6: 4,756,452		probably benign	Het
Phtf2	A	C	5: 20,764,251	V687G	probably damaging	Het
Plagl2	C	T	2: 153,232,426	G185D	possibly damaging	Het
Ppp1r3e	A	G	14: 54,876,489	V242A	probably benign	Het
Proser3	A	G	7: 30,540,033	S549P	possibly damaging	Het
Prrc2c	A	G	1: 162,706,061	V995A	unknown	Het
Ptpn13	A	G	5: 103,501,400	H223R	probably benign	Het
Rbm33	TCCACCACCACCACCACCACC	TCCACCACCACCACCACC	5: 28,361,993		probably benign	Het
Rsf1	CG	CGTCGGCGGGG	7: 97,579,908		probably benign	Het
Scn11a	T	C	9: 119,758,499	E1393G	probably damaging	Het
Sipa1l1	T	A	12: 82,432,838	S1432T	possibly damaging	Het
Slc10a5	G	C	3: 10,334,610	A330G	probably benign	Het
Slc2a5	A	C	4: 150,139,813	N293H	probably damaging	Het
Sptbn1	T	C	11: 30,123,869	E1400G	possibly damaging	Het
Stk33	T	A	7: 109,336,073	I171F	probably damaging	Het
Syne1	G	A	10: 5,211,945	H5450Y	probably benign	Het
Tpra1	A	T	6: 88,911,744	M303L	probably benign	Het
Ubr3	T	C	2: 69,922,307	S303P	probably damaging	Het
Vmn1r223	T	C	13: 23,250,078	S281P	possibly damaging	Het
Vmn1r32	C	A	6: 66,553,205	A196S	probably benign	Het
Zfp644	G	T	5: 106,637,601	T360N	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
R0743:Uqcrc1	UTSW	9	108944705	nonsense	probably null
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
R9136:Uqcrc1	UTSW	9	108947905	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- TGACTGCACTTACGGTGGTG -3'
(R):5'- AGGCGCATCCTAAAGCAAGTG -3'

Sequencing Primer
(F):5'- CACTTACGGTGGTGGAGTGGTAAG -3'
(R):5'- CATCCTAAAGCAAGTGGGAGG -3'

Posted On

2021-10-11