Mutagenetix > Incidental Mutations

Incidental Mutation 'R9136:Uqcrc1'

694031

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: 0.963) question?

Stock #

R9136 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

108936633-108949623 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108947905 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 393 (N393D)

Ref Sequence

ENSEMBL: ENSMUSP00000026743 (fasta)

Gene Model

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

AlphaFold

Q9CZ13

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026743
AA Change: N393D

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000026743
Gene: ENSMUSG00000025651
AA Change: N393D

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: N92D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000141743
Gene: ENSMUSG00000025651
AA Change: N92D

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: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008L16Rik	C	T	12: 55,303,942	P12L	probably benign	Het
Abca3	A	G	17: 24,377,833	Q420R	probably benign	Het
Abcb9	T	C	5: 124,090,113	T22A	possibly damaging	Het
Acsl5	A	T	19: 55,277,968	K109N	probably benign	Het
Agpat3	T	C	10: 78,285,059	N95S	probably damaging	Het
Akna	C	T	4: 63,392,155	D451N	probably damaging	Het
Ankrd17	A	T	5: 90,244,419	D1797E	probably damaging	Het
Ano2	A	G	6: 125,982,999	N691S	probably damaging	Het
Ccdc63	G	A	5: 122,121,083	R251W	probably damaging	Het
Cd70	T	C	17: 57,146,152	T171A	possibly damaging	Het
Cenpf	A	T	1: 189,671,155	S382T	probably benign	Het
Ddx19b	G	T	8: 111,008,274	D487E	probably benign	Het
Dlgap4	G	A	2: 156,746,155	E640K	possibly damaging	Het
Dtnbp1	A	T	13: 44,931,070	F198Y	possibly damaging	Het
Epha10	T	C	4: 124,902,634	Y379H		Het
Eral1	A	G	11: 78,074,134	I411T		Het
Exd1	C	T	2: 119,528,904	G193E	probably damaging	Het
Fat3	C	A	9: 15,922,442	A105S		Het
Fbp2	C	T	13: 62,855,026	V71M	possibly damaging	Het
Gm10801	C	CGTA	2: 98,663,807		probably null	Het
Gm11273	A	C	13: 21,501,417	M1R	probably null	Het
Gm13762	T	A	2: 88,973,769	M41L	probably benign	Het
Gm15448	A	T	7: 3,823,286	I236N		Het
Grm5	G	A	7: 88,040,046	V542I	possibly damaging	Het
Hdc	C	T	2: 126,597,866		probably null	Het
Hspe1	G	T	1: 55,089,155	K36N	probably damaging	Het
Hypk	T	A	2: 121,457,155	L17*	probably null	Het
Il18rap	C	T	1: 40,543,017	T366M	probably benign	Het
Immt	C	T	6: 71,874,419	T588I	probably damaging	Het
Kat2b	T	A	17: 53,629,336	S179T	probably benign	Het
Krtap19-5	C	T	16: 88,896,358	G22D	unknown	Het
Lipk	A	G	19: 34,022,430	D153G	probably damaging	Het
Lnpep	A	G	17: 17,529,828	V1000A	probably benign	Het
Map3k7cl	T	C	16: 87,594,339	L117P	probably damaging	Het
Meikin	A	G	11: 54,394,638	E167G	possibly damaging	Het
Miox	A	G	15: 89,336,537	Y215C	probably damaging	Het
Mthfd1	T	G	12: 76,303,875	M677R	probably damaging	Het
Ncoa7	G	A	10: 30,691,632	S350L	probably benign	Het
Nox4	G	A	7: 87,376,240	R525Q	probably benign	Het
Nrg3	A	T	14: 38,397,305	N403K	possibly damaging	Het
Nup210	T	C	6: 91,043,848	T955A	possibly damaging	Het
Odf2l	C	A	3: 145,145,937	T82K		Het
Olfr1118	A	G	2: 87,308,875	I49V	possibly damaging	Het
Olfr1132	A	G	2: 87,634,997	V250A	probably benign	Het
Olfr24	T	C	9: 18,754,879	Y252C	probably damaging	Het
Pcm1	C	T	8: 41,279,788	S694L	probably benign	Het
Pex11b	T	C	3: 96,643,943	L248P	probably damaging	Het
Ppp3cb	T	C	14: 20,531,799	I49M	probably benign	Het
Prr14l	A	C	5: 32,828,736	C1138W		Het
Psg22	T	A	7: 18,726,886	I480K	probably damaging	Het
Rgs21	A	C	1: 144,536,915	F57C		Het
Rngtt	T	A	4: 33,404,218	D468E	probably damaging	Het
Rorb	A	T	19: 18,957,322	V313E	probably damaging	Het
Sdk2	A	G	11: 113,806,377	F1736S	probably damaging	Het
Sertad2	A	T	11: 20,648,425	E207V	probably benign	Het
Slitrk1	T	C	14: 108,911,549	I577V		Het
Sos2	C	A	12: 69,586,672	E1143D	possibly damaging	Het
Spen	T	C	4: 141,522,312	D55G	unknown	Het
Stoml1	C	A	9: 58,260,953	Q316K	possibly damaging	Het
Synpo2l	C	T	14: 20,665,789	A243T	probably damaging	Het
Tenm4	A	T	7: 96,823,918	I974F	possibly damaging	Het
Trp53bp1	T	A	2: 121,236,611	I545F	possibly damaging	Het
Unc13a	T	C	8: 71,652,350	D756G	possibly damaging	Het
Vcl	T	A	14: 21,007,276	D505E	probably benign	Het
Wdr11	A	G	7: 129,603,092	H207R		Het
Zc3h7b	A	G	15: 81,769,111	D72G	probably damaging	Het
Zfp507	A	T	7: 35,776,458	D813E	probably damaging	Het
Zfp704	T	C	3: 9,444,264	S374G	probably benign	Het
Zfp97	G	A	17: 17,144,953	C238Y	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
R8975:Uqcrc1	UTSW	9	108947653	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCTTCCTGCAAGGCCAGTG -3'
(R):5'- TTGCACCTGAAGCTCCAAAC -3'

Sequencing Primer
(F):5'- AAGGCCAGTGGTGAGTCTC -3'
(R):5'- TTGATAAGTAGACCAAGCTGGCCTC -3'

Posted On

2022-01-20