Mutagenetix > Incidental Mutations

Incidental Mutation 'R7150:Uqcrc1'

554073

Institutional Source

Beutler Lab

Gene Symbol

Uqcrc1

Ensembl Gene

ENSMUSG00000025651

Gene Name

ubiquinol-cytochrome c reductase core protein 1

Synonyms

1110032G10Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R7150 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108936633-108949623 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 108947858 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 377 (M377K)

Ref Sequence

ENSEMBL: ENSMUSP00000026743 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000026743
AA Change: M377K

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000026743
Gene: ENSMUSG00000025651
AA Change: M377K

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

possibly damaging
Transcript: ENSMUST00000194469
AA Change: M76K

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000141743
Gene: ENSMUSG00000025651
AA Change: M76K

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: 99.2%

Validation Efficiency

98% (59/60)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810004N23Rik	T	C	8: 124,862,914	D20G	possibly damaging	Het
5430401F13Rik	T	C	6: 131,552,667	S75P	probably benign	Het
9530003J23Rik	T	C	10: 117,237,742	N62S	probably benign	Het
Acad8	A	T	9: 26,978,454	F315I	probably damaging	Het
Adcy5	A	G	16: 35,298,534	Y1085C	probably damaging	Het
Aldh1a7	T	C	19: 20,716,018	K179R	probably damaging	Het
Arhgap10	C	T	8: 77,250,954	G776R	probably damaging	Het
Arhgap35	A	C	7: 16,562,566	F858C	probably damaging	Het
Ash1l	C	T	3: 89,077,074	R2957W	probably damaging	Het
Atp6ap1l	G	T	13: 90,883,729	A278E	probably damaging	Het
Btn1a1	A	T	13: 23,459,351	D309E	probably damaging	Het
Casd1	C	T	6: 4,624,211	R335C	probably benign	Het
Ceacam3	A	G	7: 17,151,562	Q30R		Het
Cfap20	C	T	8: 95,422,167	C119Y	probably damaging	Het
Cntrl	A	T	2: 35,165,445		probably null	Het
Crot	A	G	5: 8,987,878	V146A	probably damaging	Het
Cx3cl1	A	G	8: 94,779,963	S199G	probably damaging	Het
D5Ertd577e	A	G	5: 95,482,821	I186V	possibly damaging	Het
Ddhd1	A	T	14: 45,657,806	L69Q	probably damaging	Het
Dnah12	T	C	14: 26,861,732	F3195L	probably damaging	Het
Dpy19l3	A	T	7: 35,708,630	D450E	probably benign	Het
Ercc3	A	T	18: 32,257,272	N538I	probably damaging	Het
Fzd1	A	T	5: 4,756,145	V479E	probably benign	Het
Gart	T	C	16: 91,628,463	Y638C	possibly damaging	Het
Gm2381	C	A	7: 42,820,464	V79L	probably benign	Het
Gucy1b1	T	C	3: 82,043,162	Y312C	probably damaging	Het
Hecw1	T	A	13: 14,434,460	M1L	probably benign	Het
Ip6k2	A	G	9: 108,796,731	I99V	unknown	Het
Itgb5	C	T	16: 33,940,643	T616I	probably benign	Het
Kmt2c	A	C	5: 25,300,362	V3316G	possibly damaging	Het
Lama3	C	T	18: 12,468,289	R1008C	probably damaging	Het
Lin54	T	C	5: 100,485,300	D175G	possibly damaging	Het
Lrp2	A	G	2: 69,488,051	S2019P	probably damaging	Het
Lrrc9	A	G	12: 72,466,952	E528G	probably benign	Het
Mto1	A	G	9: 78,457,283	H299R	probably damaging	Het
Myo19	G	A	11: 84,905,613	G684R	probably benign	Het
Olfr297	A	C	7: 86,527,114	D119A	probably damaging	Het
Olfr851	A	T	9: 19,496,849	M34L	probably benign	Het
Pcdh18	C	A	3: 49,754,694	C724F	probably benign	Het
Pcdha3	A	T	18: 36,947,112	K302N	probably benign	Het
Pcdhgb2	T	C	18: 37,692,247	F764L	possibly damaging	Het
Pik3cb	C	A	9: 99,093,090	G246W	probably damaging	Het
Polr2m	A	T	9: 71,483,344	I192N	probably damaging	Het
Polr2m	G	T	9: 71,483,533	T129K	probably benign	Het
Ptpn4	C	T	1: 119,691,745		probably null	Het
Scgb1b19	A	T	7: 33,287,515	K30N	possibly damaging	Het
Shpk	A	G	11: 73,213,489	T155A	probably damaging	Het
Slit3	T	C	11: 35,570,719	Y261H	probably damaging	Het
Sox13	A	G	1: 133,385,505	F438L	possibly damaging	Het
Sphk1	A	T	11: 116,535,081	E61D	probably benign	Het
St18	A	G	1: 6,803,019	D326G	probably damaging	Het
Syde1	G	A	10: 78,586,198	Q566*	probably null	Het
Tacc2	A	G	7: 130,729,077	T254A	probably benign	Het
Tbc1d1	A	G	5: 64,173,484	E2G	probably damaging	Het
Trim5	A	T	7: 104,276,810	N181K	probably damaging	Het
Trpc7	A	T	13: 56,783,696	I730K	probably benign	Het
Vmn2r4	T	C	3: 64,398,477	N508S	probably benign	Het
Vmp1	A	T	11: 86,586,576	S333T	probably benign	Het
Vps50	T	A	6: 3,578,854	M639K	possibly damaging	Het
Zfp874b	A	T	13: 67,474,503	C225*	probably null	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
R7524:Uqcrc1	UTSW	9	108936759	missense	possibly damaging	0.48

Predicted Primers

PCR Primer
(F):5'- GGCTAACAAGCTTTGCCAG -3'
(R):5'- TCCTTTCTAAACATGGCCACAC -3'

Sequencing Primer
(F):5'- AAGCTTTGCCAGAGTTTCCAGAC -3'
(R):5'- TGGCCACACTACAGCTTGAGTC -3'

Posted On

2019-05-15