Mutagenetix > Incidental Mutations

Incidental Mutation 'R5716:Uqcrc1'

451183

Institutional Source

Beutler Lab

Gene Symbol

Uqcrc1

Ensembl Gene

ENSMUSG00000025651

Gene Name

ubiquinol-cytochrome c reductase core protein 1

Synonyms

1110032G10Rik

MMRRC Submission

043187-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.958) question?

Stock #

R5716 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

108936633-108949623 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108947405 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 298 (N298D)

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: N298D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000026743
Gene: ENSMUSG00000025651
AA Change: N298D

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

noncoding transcript
Transcript: ENSMUST00000192918

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193332

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193607

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 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: 97.2%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	T	C	11: 58,421,768	V24A	possibly damaging	Het
Abca14	G	A	7: 120,246,994		probably null	Het
Acad12	A	G	5: 121,609,983	V124A	probably benign	Het
Alg1	A	T	16: 5,239,956	D238V	probably damaging	Het
Bcar3	A	G	3: 122,512,915	E179G	probably damaging	Het
Brf2	A	G	8: 27,126,046	S104P	probably benign	Het
Coq8a	A	T	1: 180,179,260	Y21N	possibly damaging	Het
Cramp1l	A	G	17: 24,974,735	F924L	probably damaging	Het
Dpyd	G	T	3: 118,899,179	C324F	probably damaging	Het
Eif4b	T	C	15: 102,082,059	Y33H	probably benign	Het
Fry	C	T	5: 150,370,221	Q460*	probably null	Het
Fryl	T	C	5: 73,100,465	I665V	probably benign	Het
Gm9573	A	C	17: 35,620,783		probably benign	Het
Gpank1	A	G	17: 35,123,253	K90E	probably damaging	Het
Hexdc	A	G	11: 121,221,562	I482V	probably benign	Het
Hmcn2	G	A	2: 31,336,567	E185K	probably damaging	Het
Hmcn2	A	G	2: 31,458,738	E4922G	possibly damaging	Het
Ino80d	A	T	1: 63,058,697	D679E	probably benign	Het
Kalrn	A	T	16: 33,987,176	C2608S	probably benign	Het
Kars	T	A	8: 112,003,442		probably null	Het
Lcn2	A	G	2: 32,385,813	V211A	possibly damaging	Het
Lsmem1	A	T	12: 40,180,693	V70E	possibly damaging	Het
Med12l	T	C	3: 59,301,377		probably null	Het
Megf11	T	C	9: 64,506,110	F60L	possibly damaging	Het
Neb	T	A	2: 52,210,584	H4438L	probably benign	Het
Nuf2	C	A	1: 169,522,389	V107F	probably benign	Het
Olfr127	A	T	17: 37,903,828	Y94F	probably benign	Het
Olfr1501	C	T	19: 13,838,639	C178Y	probably damaging	Het
Olfr767	T	A	10: 129,079,555	N136I	probably benign	Het
Pabpn1l	A	G	8: 122,620,421	V215A	probably damaging	Het
Pnn	A	G	12: 59,071,872	I414V	probably benign	Het
Rab11fip3	A	G	17: 26,036,664	Y539H	probably damaging	Het
Rassf4	A	G	6: 116,661,867	V13A	probably benign	Het
Sephs1	T	C	2: 4,884,578	F56L	probably benign	Het
Sh3rf3	C	T	10: 59,131,283	P816S	probably benign	Het
Skint10	A	G	4: 112,711,647	L291P	probably damaging	Het
Thsd7a	T	A	6: 12,343,148	I1157L	probably benign	Het
Tmem184c	T	C	8: 77,606,407	H85R	possibly damaging	Het
Tmem94	T	C	11: 115,792,428	V679A	probably benign	Het
Tpcn2	A	C	7: 145,257,813	F566V	possibly damaging	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
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

Predicted Primers

PCR Primer
(F):5'- TTCTGTTTTCCCAGGAGGCC -3'
(R):5'- TCTGTGGCACATATCCTAAGC -3'

Sequencing Primer
(F):5'- AGCCCTGCCATGTGTTG -3'
(R):5'- GTGGCACATATCCTAAGCTCCATAAC -3'

Posted On

2017-01-03