Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01309:Uqcrc1'

73582

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: 0.968) question?

Stock #

IGL01309

Quality Score

Status

Chromosome

Chromosomal Location

108936633-108949623 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 108948958 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 441 (L441Q)

Ref Sequence

ENSEMBL: ENSMUSP00000026743 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026740] [ENSMUST00000026743] [ENSMUST00000112070] [ENSMUST00000194047] [ENSMUST00000194469] [ENSMUST00000195738]

AlphaFold

Q9CZ13

Predicted Effect

probably benign
Transcript: ENSMUST00000026740

SMART Domains

Protein: ENSMUSP00000026740
Gene: ENSMUSG00000025650

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
VWA	37	217	1.56e-51	SMART
FN3	233	319	1.41e-10	SMART
FN3	325	405	6.54e-6	SMART
FN3	416	494	6.91e-5	SMART
FN3	509	585	1.24e-6	SMART
FN3	599	675	2.01e-6	SMART
FN3	687	763	7.45e-10	SMART
FN3	774	854	6.01e-5	SMART
FN3	865	944	7.23e-8	SMART
FN3	955	1038	2.16e-6	SMART
Pfam:VWA	1055	1227	2.3e-22	PFAM
Pfam:Collagen	1244	1311	2.4e-8	PFAM
Pfam:Collagen	1294	1355	4.1e-10	PFAM
low complexity region	1397	1414	N/A	INTRINSIC
Pfam:Collagen	1447	1504	1.3e-9	PFAM
Pfam:Collagen	1487	1547	5e-8	PFAM
low complexity region	1572	1595	N/A	INTRINSIC
low complexity region	1604	1632	N/A	INTRINSIC
Pfam:Collagen	1646	1714	2.8e-10	PFAM
Pfam:Collagen	1713	1775	1.9e-10	PFAM
low complexity region	1776	1794	N/A	INTRINSIC
low complexity region	1803	1833	N/A	INTRINSIC
Pfam:Collagen	1875	1935	1.5e-8	PFAM
Pfam:Collagen	1969	2033	2.4e-9	PFAM
Pfam:Collagen	2025	2092	9.1e-10	PFAM
Pfam:Collagen	2089	2158	1.3e-10	PFAM
Pfam:Collagen	2147	2209	1.6e-9	PFAM
Pfam:Collagen	2245	2312	1.4e-8	PFAM
Pfam:Collagen	2313	2365	2.5e-8	PFAM
Pfam:Collagen	2364	2423	7.3e-10	PFAM
Pfam:Collagen	2398	2457	1.5e-9	PFAM
Pfam:Collagen	2456	2515	8.4e-11	PFAM
Pfam:Collagen	2516	2572	1.9e-9	PFAM
Pfam:Collagen	2560	2630	7.2e-9	PFAM
Pfam:Collagen	2605	2682	6e-9	PFAM
Pfam:Collagen	2659	2722	2e-8	PFAM
low complexity region	2745	2775	N/A	INTRINSIC
Pfam:Kunitz_BPTI	2878	2932	3.2e-19	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026743
AA Change: L441Q

PolyPhen 2 Score 0.618 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000026743
Gene: ENSMUSG00000025651
AA Change: L441Q

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: ENSMUST00000112070

SMART Domains

Protein: ENSMUSP00000107701
Gene: ENSMUSG00000025650

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
VWA	37	217	1.56e-51	SMART
FN3	233	319	1.41e-10	SMART
FN3	325	405	6.54e-6	SMART
FN3	416	494	6.91e-5	SMART
FN3	509	585	1.24e-6	SMART
FN3	599	675	2.01e-6	SMART
FN3	687	763	7.45e-10	SMART
FN3	774	854	6.01e-5	SMART
FN3	865	944	7.23e-8	SMART
FN3	955	1038	2.16e-6	SMART
Pfam:VWA	1055	1230	2.2e-19	PFAM
Pfam:Collagen	1244	1311	2.5e-8	PFAM
Pfam:Collagen	1294	1355	4.2e-10	PFAM
low complexity region	1397	1414	N/A	INTRINSIC
Pfam:Collagen	1447	1504	1.3e-9	PFAM
Pfam:Collagen	1487	1547	5.1e-8	PFAM
low complexity region	1572	1595	N/A	INTRINSIC
low complexity region	1604	1632	N/A	INTRINSIC
Pfam:Collagen	1646	1714	2.9e-10	PFAM
Pfam:Collagen	1713	1775	1.9e-10	PFAM
low complexity region	1776	1794	N/A	INTRINSIC
low complexity region	1803	1833	N/A	INTRINSIC
Pfam:Collagen	1875	1935	1.5e-8	PFAM
Pfam:Collagen	1969	2033	2.5e-9	PFAM
Pfam:Collagen	2025	2092	9.4e-10	PFAM
Pfam:Collagen	2089	2158	1.3e-10	PFAM
Pfam:Collagen	2147	2209	1.6e-9	PFAM
Pfam:Collagen	2195	2266	7.7e-7	PFAM
Pfam:Collagen	2245	2312	1.4e-8	PFAM
Pfam:Collagen	2313	2365	2.6e-8	PFAM
Pfam:Collagen	2364	2423	7.6e-10	PFAM
Pfam:Collagen	2398	2457	1.5e-9	PFAM
Pfam:Collagen	2456	2515	8.7e-11	PFAM
Pfam:Collagen	2516	2572	2e-9	PFAM
Pfam:Collagen	2560	2630	7.4e-9	PFAM
Pfam:Collagen	2605	2682	6.2e-9	PFAM
Pfam:Collagen	2659	2722	2.1e-8	PFAM
Pfam:Collagen	2719	2778	1.6e-7	PFAM
Pfam:Kunitz_BPTI	2878	2932	1.1e-19	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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610318N02Rik	A	G	16: 17,113,546	V275A	possibly damaging	Het
Adamts2	A	G	11: 50,803,701	D1105G	probably benign	Het
Adgrb3	T	A	1: 25,112,271	M195L	possibly damaging	Het
Adrm1	A	G	2: 180,175,963		probably benign	Het
Atg13	T	A	2: 91,678,831	I457F	possibly damaging	Het
BC034090	T	C	1: 155,226,384	N45D	probably damaging	Het
C3	C	T	17: 57,209,652		probably benign	Het
Cacna1a	G	A	8: 84,523,028	G221D	probably damaging	Het
Calr	A	G	8: 84,846,706		probably null	Het
Chd3	C	T	11: 69,357,731	V825I	probably damaging	Het
Chdh	T	G	14: 30,035,804		probably benign	Het
Ckap5	T	C	2: 91,570,184	V627A	probably damaging	Het
Commd3	A	G	2: 18,672,478	E5G	probably benign	Het
Ddi1	T	C	9: 6,265,773	R199G	probably damaging	Het
Dennd4c	A	G	4: 86,805,487		probably benign	Het
Dok7	G	A	5: 35,079,568	G293D	possibly damaging	Het
Epm2aip1	T	C	9: 111,273,528	V523A	probably benign	Het
Fam171b	C	T	2: 83,879,447	Q488*	probably null	Het
Gabbr1	G	A	17: 37,048,607		probably null	Het
Gm5965	T	G	16: 88,778,331	S131A	possibly damaging	Het
Gpcpd1	T	C	2: 132,550,324	D235G	probably damaging	Het
Grip1	A	T	10: 119,931,302	K111*	probably null	Het
Itih4	G	T	14: 30,891,749	D308Y	probably damaging	Het
Kcnj6	A	G	16: 94,832,455	Y266H	probably damaging	Het
Lrrc41	T	C	4: 116,096,466	L783P	probably damaging	Het
Map4k5	T	C	12: 69,841,963	D298G	probably benign	Het
Mapkbp1	T	C	2: 120,018,942	F712L	probably damaging	Het
Mcoln2	T	C	3: 146,163,527		probably benign	Het
Megf11	T	A	9: 64,681,416	S532R	probably benign	Het
Mkx	T	C	18: 6,937,192	D284G	probably benign	Het
Mmp16	A	G	4: 18,116,185	I596M	probably damaging	Het
Msto1	C	A	3: 88,913,686	R34L	probably benign	Het
Mtmr9	A	G	14: 63,526,805	L491P	probably damaging	Het
Olfr1196	T	G	2: 88,700,966	Y121S	probably damaging	Het
Olfr12	T	C	1: 92,620,335	M143T	probably damaging	Het
Olfr917	T	A	9: 38,664,993	I284L	probably benign	Het
Otor	T	C	2: 143,078,612	V38A	possibly damaging	Het
Pcdhb12	G	T	18: 37,436,154	D118Y	probably damaging	Het
Prelp	T	C	1: 133,914,807	H200R	probably benign	Het
Prmt5	T	C	14: 54,509,877	Y481C	probably damaging	Het
Psg23	T	G	7: 18,614,540	D114A	probably damaging	Het
Ptger4	A	T	15: 5,242,758	Y127N	probably damaging	Het
Rabgap1l	C	A	1: 160,700,798	V385L	probably benign	Het
Rergl	T	A	6: 139,493,258	K191*	probably null	Het
Sart3	A	G	5: 113,759,250	F252S	probably damaging	Het
Sbno1	A	T	5: 124,381,706	S1169T	probably benign	Het
Serpinb8	C	T	1: 107,604,718	T180M	probably damaging	Het
Sipa1l1	G	A	12: 82,387,696	E747K	probably benign	Het
Sptb	T	A	12: 76,587,463	D2158V	probably benign	Het
Sycp2	T	G	2: 178,358,111	D1024A	probably benign	Het
Tbr1	T	G	2: 61,806,067	N262K	possibly damaging	Het
Tnrc6a	A	T	7: 123,171,494	I836F	probably benign	Het
Ttn	T	C	2: 76,938,747	E2823G	probably damaging	Het
Vmn1r180	T	C	7: 23,952,999	F196L	probably damaging	Het
Vmn2r111	T	C	17: 22,569,016	I451M	possibly damaging	Het
Zcchc7	A	T	4: 44,926,060	H353L	probably damaging	Het

Other mutations in Uqcrc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R9136:Uqcrc1	UTSW	9	108947905	missense	possibly damaging	0.94

Posted On

2013-10-07