Mutagenetix > Incidental Mutation

Incidental Mutation 'R7764:Ubc'

598116

Institutional Source

Beutler Lab

Gene Symbol

Ubc

Ensembl Gene

ENSMUSG00000008348

Gene Name

ubiquitin C

Synonyms

2700054O04Rik

MMRRC Submission

045820-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7764 (G1)

Quality Score

105.008

Status

Not validated

Chromosome

Chromosomal Location

125463029-125467081 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 125465133 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 65 (S65P)

Ref Sequence

ENSEMBL: ENSMUSP00000114180 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100700] [ENSMUST00000108707] [ENSMUST00000136312] [ENSMUST00000156249]

AlphaFold

P0CG50

PDB Structure

Crystal structure of human AMSH-LP DUB domain in complex with Lys63-linked ubiquitin dimer [X-RAY DIFFRACTION]
Crystal structure of the mouse RAP80 UIMs in complex with Lys63-linked di-ubiquitin [X-RAY DIFFRACTION]
Crystal structure of the mouse TAB2-NZF in complex with Lys63-linked di-ubiquitin [X-RAY DIFFRACTION]
Crystal structure of the mouse TAB3-NZF in complex with Lys63-linked di-ubiquitin [X-RAY DIFFRACTION]
Crystal structure of GFP-Wrnip1 UBZ domain fusion protein in complex with ubiquitin [X-RAY DIFFRACTION]
Crystal structure of CYLD USP domain (C596A) in complex with Lys63-linked diubiquitin [X-RAY DIFFRACTION]
The crystal structure of the DUB domain of AMSH orthologue, Sst2 from S. pombe, in complex with lysine 63-linked diubiquitin [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000100700

SMART Domains

Protein: ENSMUSP00000098265
Gene: ENSMUSG00000072612

Domain	Start	End	E-Value	Type
low complexity region	34	71	N/A	INTRINSIC
low complexity region	79	95	N/A	INTRINSIC
low complexity region	125	144	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000108707
AA Change: S65P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104347
Gene: ENSMUSG00000008348
AA Change: S65P

Domain	Start	End	E-Value	Type
UBQ	1	72	2.14e-36	SMART
UBQ	77	148	2.14e-36	SMART
UBQ	153	201	1.42e-9	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000136312
AA Change: S65P

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000114180
Gene: ENSMUSG00000008348
AA Change: S65P

Domain	Start	End	E-Value	Type
UBQ	1	72	2.14e-36	SMART
UBQ	77	148	2.14e-36	SMART
UBQ	153	224	2.14e-36	SMART
UBQ	229	300	2.14e-36	SMART
UBQ	305	376	2.14e-36	SMART
UBQ	381	452	2.14e-36	SMART
UBQ	457	528	2.14e-36	SMART
UBQ	533	604	2.14e-36	SMART
UBQ	609	680	2.14e-36	SMART
PDB:4MDK\|H	684	711	9e-6	PDB

Predicted Effect

possibly damaging
Transcript: ENSMUST00000156249
AA Change: S65P

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000115578
Gene: ENSMUSG00000008348
AA Change: S65P

Domain	Start	End	E-Value	Type
UBQ	1	72	2.14e-36	SMART
UBQ	77	148	2.14e-36	SMART
UBQ	153	224	2.14e-36	SMART
UBQ	229	300	2.14e-36	SMART
UBQ	305	376	2.14e-36	SMART
UBQ	381	452	2.14e-36	SMART
UBQ	457	528	2.14e-36	SMART
UBQ	533	604	2.14e-36	SMART
UBQ	609	680	2.14e-36	SMART
PDB:4MDK\|H	684	711	9e-6	PDB

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene represents a ubiquitin gene, ubiquitin C. The encoded protein is a polyubiquitin precursor. Conjugation of ubiquitin monomers or polymers can lead to various effects within a cell, depending on the residues to which ubiquitin is conjugated. Ubiquitination has been associated with protein degradation, DNA repair, cell cycle regulation, kinase modification, endocytosis, and regulation of other cell signaling pathways. [provided by RefSeq, Aug 2010]
PHENOTYPE: Homozygous null embryos die between E 12.5 and E14.5 most likely due to a severe defect in liver cell proliferation. Mutant MEFs exhibit reduced growth rates, premature senescence, increased apoptosis and delayed cell-cycle progression, and are hypersensitive to proteasome inhibitors and heat shock. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf3	T	G	16: 20,368,040 (GRCm39)	L93V	probably benign	Het
Adss2	A	C	1: 177,591,827 (GRCm39)	M452R	probably damaging	Het
Aldh3b1	T	A	19: 3,971,563 (GRCm39)	K102*	probably null	Het
Ccdc162	A	T	10: 41,566,109 (GRCm39)	V78D	possibly damaging	Het
Ccr3	T	C	9: 123,829,451 (GRCm39)	V262A	probably benign	Het
Cdk13	A	T	13: 17,895,890 (GRCm39)		probably null	Het
Cdyl	A	T	13: 36,000,126 (GRCm39)	T136S	possibly damaging	Het
Chd2	T	C	7: 73,121,567 (GRCm39)	D1015G	probably null	Het
Cntn2	C	A	1: 132,450,101 (GRCm39)	A598S	probably benign	Het
Cxxc4	G	T	3: 133,945,856 (GRCm39)	G146C	unknown	Het
Dnah2	G	A	11: 69,348,984 (GRCm39)	T2501I	probably benign	Het
Dock8	T	A	19: 25,074,899 (GRCm39)	I471N	probably benign	Het
Eaf2	A	G	16: 36,645,045 (GRCm39)	V59A	probably damaging	Het
Egflam	T	A	15: 7,347,736 (GRCm39)	I65F	probably damaging	Het
Exoc3l	A	G	8: 106,017,333 (GRCm39)	V577A	possibly damaging	Het
Folh1	A	T	7: 86,412,126 (GRCm39)	M215K	probably benign	Het
Fosb	T	C	7: 19,038,971 (GRCm39)	D271G	possibly damaging	Het
Frmd4b	A	G	6: 97,272,891 (GRCm39)	Y834H	probably damaging	Het
Fsip2	T	C	2: 82,811,252 (GRCm39)	S2524P	possibly damaging	Het
Gbp3	A	G	3: 142,271,024 (GRCm39)	T143A	probably benign	Het
Grk2	A	T	19: 4,337,391 (GRCm39)	L632Q	probably damaging	Het
Hars1	A	T	18: 36,903,237 (GRCm39)	D364E	probably damaging	Het
Hsd17b4	G	T	18: 50,279,482 (GRCm39)	G154*	probably null	Het
Kif5c	T	C	2: 49,617,973 (GRCm39)		probably null	Het
Kif5c	T	C	2: 49,639,339 (GRCm39)	L800P	probably damaging	Het
Krt19	T	C	11: 100,032,218 (GRCm39)	N282S	probably benign	Het
Med23	T	G	10: 24,785,818 (GRCm39)		probably null	Het
Meltf	A	G	16: 31,699,085 (GRCm39)	Q65R	probably benign	Het
Mms22l	T	C	4: 24,598,842 (GRCm39)	S1106P	probably damaging	Het
Mprip	A	G	11: 59,655,242 (GRCm39)	T733A	probably damaging	Het
Mul1	G	A	4: 138,162,080 (GRCm39)	G4S	possibly damaging	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Mylk	G	T	16: 34,742,553 (GRCm39)	V1022L	probably benign	Het
Ncald	G	T	15: 37,397,454 (GRCm39)	N75K	probably damaging	Het
Nfib	A	G	4: 82,238,731 (GRCm39)	S492P	possibly damaging	Het
Notch2	A	T	3: 98,050,304 (GRCm39)	I1860F	probably damaging	Het
Or9i14	A	G	19: 13,792,111 (GRCm39)	I281T	probably benign	Het
Oxr1	T	C	15: 41,683,263 (GRCm39)	S298P	probably benign	Het
Pcnt	T	C	10: 76,190,082 (GRCm39)	D2818G	probably benign	Het
Pmpcb	G	A	5: 21,948,450 (GRCm39)	A244T	probably damaging	Het
Poln	A	G	5: 34,274,151 (GRCm39)		probably null	Het
Polr1a	G	A	6: 71,930,054 (GRCm39)	V914M	probably damaging	Het
Rab15	A	C	12: 76,851,215 (GRCm39)		probably null	Het
Rasgrf1	G	T	9: 89,876,747 (GRCm39)	S704I	possibly damaging	Het
Rsf1	GGCGGCGG	GGCGGCGGGCGCGGCGG	7: 97,229,134 (GRCm39)		probably benign	Het
Sart1	C	A	19: 5,438,613 (GRCm39)	G15W	probably damaging	Het
Scrib	T	C	15: 75,919,242 (GRCm39)	*1666W	probably null	Het
Setd1b	G	C	5: 123,284,622 (GRCm39)	R184P	unknown	Het
Sfxn2	A	T	19: 46,574,179 (GRCm39)	N123I	probably damaging	Het
Slc22a3	A	G	17: 12,677,383 (GRCm39)	W262R	probably damaging	Het
Slc38a10	A	G	11: 119,995,905 (GRCm39)	L1064P	probably damaging	Het
Sorcs2	A	T	5: 36,181,416 (GRCm39)	S1077R	possibly damaging	Het
Them7	G	T	2: 105,128,171 (GRCm39)	E51*	probably null	Het
Ubqln3	A	T	7: 103,790,443 (GRCm39)	M549K	possibly damaging	Het
Vmn1r222	A	G	13: 23,416,529 (GRCm39)	L228P	probably damaging	Het
Vmn2r60	A	G	7: 41,844,535 (GRCm39)	T633A	probably damaging	Het
Zfp382	T	C	7: 29,832,700 (GRCm39)	V117A	probably benign	Het
Zic1	C	T	9: 91,247,745 (GRCm39)		probably benign	Het
Zmym4	A	T	4: 126,819,409 (GRCm39)	F165I	probably benign	Het

Other mutations in Ubc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02225:Ubc	APN	5	125,463,197 (GRCm39)	missense	probably benign	0.08
IGL02430:Ubc	APN	5	125,464,634 (GRCm39)	missense	probably damaging	1.00
IGL02830:Ubc	APN	5	125,464,377 (GRCm39)	missense	probably damaging	0.97
IGL02866:Ubc	APN	5	125,464,486 (GRCm39)	missense	probably benign
IGL02902:Ubc	APN	5	125,463,293 (GRCm39)	missense	probably benign	0.15
IGL02927:Ubc	APN	5	125,463,201 (GRCm39)	missense	probably benign	0.01
IGL03027:Ubc	APN	5	125,464,565 (GRCm39)	missense	probably damaging	1.00
IGL03066:Ubc	APN	5	125,465,327 (GRCm39)	splice site	probably benign
R4940:Ubc	UTSW	5	125,463,293 (GRCm39)	missense	probably benign	0.15
R5509:Ubc	UTSW	5	125,464,339 (GRCm39)	missense	probably benign	0.30
R6318:Ubc	UTSW	5	125,465,324 (GRCm39)	start codon destroyed	probably null	0.99
R6339:Ubc	UTSW	5	125,464,406 (GRCm39)	missense	probably damaging	0.99
R7033:Ubc	UTSW	5	125,465,238 (GRCm39)	missense	probably damaging	1.00
R8097:Ubc	UTSW	5	125,466,982 (GRCm39)	start gained	probably benign
R8348:Ubc	UTSW	5	125,465,095 (GRCm39)	missense	probably damaging	1.00
R9418:Ubc	UTSW	5	125,464,466 (GRCm39)	missense	probably damaging	1.00
R9621:Ubc	UTSW	5	125,464,511 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGCCTGCAAAGATCAGCCTC -3'
(R):5'- GTCATTCCTGACCTGTGAATTG -3'

Sequencing Primer
(F):5'- CTCTGCTGGTCAGGGGG -3'
(R):5'- TTTGTGACAGACGATGCAGATC -3'

Posted On

2019-11-26