Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02698:Uqcrc1'

304047

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Uqcrc1

Ensembl Gene

ENSMUSG00000025651

Gene Name

ubiquinol-cytochrome c reductase core protein 1

Synonyms

1110032G10Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

IGL02698

Quality Score

Status

Chromosome

Chromosomal Location

108765701-108778691 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 108777011 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000141743 (fasta)

Gene Model

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

AlphaFold

Q9CZ13

Predicted Effect

probably null
Transcript: ENSMUST00000026743

SMART Domains

Protein: ENSMUSP00000026743
Gene: ENSMUSG00000025651

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 null
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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arpp21	T	A	9: 112,014,812 (GRCm39)		probably benign	Het
Car8	A	T	4: 8,185,598 (GRCm39)	I186N	probably benign	Het
Ccdc174	G	A	6: 91,867,834 (GRCm39)	S183N	probably benign	Het
Ccdc66	T	A	14: 27,212,749 (GRCm39)	K525*	probably null	Het
Cebpz	A	G	17: 79,243,003 (GRCm39)	V217A	probably benign	Het
Cfap36	C	A	11: 29,197,014 (GRCm39)		probably null	Het
Cpne4	T	C	9: 104,909,984 (GRCm39)	V527A	probably damaging	Het
Crh	T	G	3: 19,748,354 (GRCm39)	D96A	possibly damaging	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Dcp1a	A	T	14: 30,227,499 (GRCm39)		probably benign	Het
Ddhd1	A	T	14: 45,842,663 (GRCm39)		probably benign	Het
Dis3l2	C	T	1: 86,976,551 (GRCm39)		probably benign	Het
Dop1a	T	C	9: 86,406,412 (GRCm39)		probably benign	Het
Etv3	A	G	3: 87,443,885 (GRCm39)	T490A	possibly damaging	Het
Fastkd2	A	G	1: 63,787,158 (GRCm39)	T531A	probably benign	Het
Fat1	C	T	8: 45,476,201 (GRCm39)	A1749V	probably benign	Het
Fgfr1	T	A	8: 26,063,624 (GRCm39)	L761*	probably null	Het
Gcc2	A	G	10: 58,107,112 (GRCm39)	K683E	possibly damaging	Het
Gm5117	C	T	8: 32,229,767 (GRCm39)		noncoding transcript	Het
Hif1a	T	C	12: 73,977,545 (GRCm39)		probably null	Het
Inha	A	G	1: 75,486,527 (GRCm39)	E274G	probably damaging	Het
Itih2	G	T	2: 10,135,312 (GRCm39)	P26H	probably damaging	Het
Kif23	G	A	9: 61,832,283 (GRCm39)	T620I	possibly damaging	Het
Klhl30	T	C	1: 91,281,429 (GRCm39)	F10S	probably damaging	Het
Kmt2b	T	C	7: 30,278,118 (GRCm39)		probably benign	Het
Lmf2	A	C	15: 89,238,357 (GRCm39)	L174R	probably damaging	Het
Med13l	T	C	5: 118,900,894 (GRCm39)	L2216P	probably damaging	Het
Mmp1b	T	A	9: 7,384,877 (GRCm39)	L257F	probably damaging	Het
Net1	A	G	13: 3,937,569 (GRCm39)		probably null	Het
Nfasc	A	G	1: 132,562,475 (GRCm39)	V100A	probably benign	Het
Nr4a2	A	G	2: 56,998,172 (GRCm39)	F535S	probably damaging	Het
Ntn4	G	T	10: 93,480,521 (GRCm39)	A45S	probably benign	Het
Or2y1c	T	A	11: 49,361,690 (GRCm39)	F237L	probably benign	Het
Or4a27	T	A	2: 88,559,815 (GRCm39)	I43F	probably damaging	Het
Or52a20	T	C	7: 103,366,485 (GRCm39)	V228A	probably damaging	Het
Or5w17	T	A	2: 87,584,188 (GRCm39)	K50*	probably null	Het
Or8c9	A	G	9: 38,241,506 (GRCm39)	T208A	probably benign	Het
Pappa	A	T	4: 65,099,257 (GRCm39)	E592V	probably damaging	Het
Pate10	T	C	9: 35,652,416 (GRCm39)		probably benign	Het
Pi4ka	A	T	16: 17,109,032 (GRCm39)	I1630N	probably damaging	Het
Ptprb	A	G	10: 116,199,185 (GRCm39)	D1997G	probably benign	Het
Rc3h2	A	T	2: 37,295,312 (GRCm39)	S235T	probably damaging	Het
S1pr1	T	A	3: 115,505,746 (GRCm39)	K283*	probably null	Het
Scn5a	T	A	9: 119,350,163 (GRCm39)	T904S	probably damaging	Het
Sema6d	T	C	2: 124,495,643 (GRCm39)	L30P	possibly damaging	Het
Slc26a7	A	C	4: 14,593,867 (GRCm39)	S83A	possibly damaging	Het
Slco1a6	C	A	6: 142,048,737 (GRCm39)	G348*	probably null	Het
Srgap3	C	T	6: 112,723,889 (GRCm39)	V524I	probably damaging	Het
Stxbp3-ps	A	T	19: 9,535,688 (GRCm39)		noncoding transcript	Het
Sv2b	C	T	7: 74,790,726 (GRCm39)		probably null	Het
Sympk	T	C	7: 18,779,559 (GRCm39)	I663T	probably benign	Het
Ttn	C	A	2: 76,775,115 (GRCm39)	V1976L	probably damaging	Het
Vmn2r111	T	C	17: 22,790,226 (GRCm39)	Y260C	probably damaging	Het

Other mutations in Uqcrc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01309:Uqcrc1	APN	9	108,778,026 (GRCm39)	missense	possibly damaging	0.62
IGL02332:Uqcrc1	APN	9	108,776,937 (GRCm39)	missense	probably damaging	1.00
R0313:Uqcrc1	UTSW	9	108,777,642 (GRCm39)	missense	possibly damaging	0.69
R0743:Uqcrc1	UTSW	9	108,773,773 (GRCm39)	nonsense	probably null
R2027:Uqcrc1	UTSW	9	108,776,083 (GRCm39)	missense	probably benign	0.06
R2513:Uqcrc1	UTSW	9	108,765,836 (GRCm39)	missense	probably damaging	1.00
R4680:Uqcrc1	UTSW	9	108,776,929 (GRCm39)	missense	probably damaging	1.00
R4993:Uqcrc1	UTSW	9	108,773,878 (GRCm39)	missense	probably damaging	1.00
R5223:Uqcrc1	UTSW	9	108,771,224 (GRCm39)	missense	probably damaging	1.00
R5716:Uqcrc1	UTSW	9	108,776,473 (GRCm39)	missense	probably benign
R5941:Uqcrc1	UTSW	9	108,776,554 (GRCm39)	unclassified	probably benign
R6274:Uqcrc1	UTSW	9	108,771,224 (GRCm39)	missense	probably damaging	1.00
R6598:Uqcrc1	UTSW	9	108,776,690 (GRCm39)	missense	possibly damaging	0.93
R7132:Uqcrc1	UTSW	9	108,778,536 (GRCm39)	missense	probably damaging	0.98
R7150:Uqcrc1	UTSW	9	108,776,926 (GRCm39)	missense	probably benign	0.02
R7524:Uqcrc1	UTSW	9	108,765,827 (GRCm39)	missense	possibly damaging	0.48
R8708:Uqcrc1	UTSW	9	108,776,108 (GRCm39)	missense	probably damaging	0.97
R8889:Uqcrc1	UTSW	9	108,766,186 (GRCm39)	missense	probably damaging	1.00
R8892:Uqcrc1	UTSW	9	108,766,186 (GRCm39)	missense	probably damaging	1.00
R8975:Uqcrc1	UTSW	9	108,776,721 (GRCm39)	missense	probably damaging	1.00
R9136:Uqcrc1	UTSW	9	108,776,973 (GRCm39)	missense	possibly damaging	0.94

Posted On

2015-04-16