Mutagenetix > Incidental Mutation

Incidental Mutation 'R8348:Ubc'

645355

Institutional Source

Beutler Lab

Gene Symbol

Ubc

Ensembl Gene

ENSMUSG00000008348

Gene Name

ubiquitin C

Synonyms

2700054O04Rik

MMRRC Submission

067732-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8348 (G1)

Quality Score

91.0077

Status

Not validated

Chromosome

Chromosomal Location

125463029-125467081 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 125465095 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 77 (M77I)

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 benign
Transcript: ENSMUST00000108707
AA Change: M77I

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000104347
Gene: ENSMUSG00000008348
AA Change: M77I

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

probably damaging
Transcript: ENSMUST00000136312
AA Change: M77I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000114180
Gene: ENSMUSG00000008348
AA Change: M77I

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

probably damaging
Transcript: ENSMUST00000156249
AA Change: M77I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000115578
Gene: ENSMUSG00000008348
AA Change: M77I

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: 99.9%
10x: 99.7%
20x: 99.1%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933430I17Rik	T	C	4: 62,461,022 (GRCm39)		probably null	Het
Adamts6	T	A	13: 104,616,027 (GRCm39)	C1030S	probably damaging	Het
Adamtsl3	C	A	7: 82,253,007 (GRCm39)	T1527K	possibly damaging	Het
Akap9	G	A	5: 3,998,897 (GRCm39)		probably null	Het
Ankle2	C	A	5: 110,389,909 (GRCm39)	P457T	possibly damaging	Het
Ankrd7	A	G	6: 18,868,007 (GRCm39)	N91S	probably damaging	Het
Ascc3	C	A	10: 50,494,173 (GRCm39)	Q203K	probably benign	Het
Baz2b	A	T	2: 59,742,137 (GRCm39)	D61E		Het
Bmpr1a	T	A	14: 34,136,759 (GRCm39)	K477N	probably benign	Het
Cacna1d	T	C	14: 29,824,364 (GRCm39)	I1040V	probably damaging	Het
Castor2	T	C	5: 134,166,955 (GRCm39)	F304L	possibly damaging	Het
Cdkn2a	C	A	4: 89,200,291 (GRCm39)	V20L	possibly damaging	Het
Chd5	A	G	4: 152,445,173 (GRCm39)	S385G	probably damaging	Het
Cntrob	A	G	11: 69,190,679 (GRCm39)	F46L	unknown	Het
Cth	T	C	3: 157,630,657 (GRCm39)	D4G	probably benign	Het
Cyld	C	T	8: 89,456,197 (GRCm39)	H416Y	probably damaging	Het
Dennd6a	C	A	14: 26,328,098 (GRCm39)	H264Q	possibly damaging	Het
Dnah1	T	C	14: 31,015,682 (GRCm39)	Y1672C	probably damaging	Het
Dnah8	A	G	17: 30,892,814 (GRCm39)	I800V	probably benign	Het
Esrp2	A	G	8: 106,858,853 (GRCm39)	Y595H	probably damaging	Het
F12	T	A	13: 55,566,301 (GRCm39)	Y497F	probably benign	Het
Fggy	A	G	4: 95,732,427 (GRCm39)	T473A	probably benign	Het
Garre1	A	T	7: 33,984,569 (GRCm39)	L18Q	probably damaging	Het
Gm21103	C	A	14: 17,482,861 (GRCm39)	R180L	probably benign	Het
Gstt2	C	A	10: 75,668,526 (GRCm39)	R107L	probably damaging	Het
Hectd4	A	T	5: 121,358,319 (GRCm39)		probably benign	Het
Helb	A	G	10: 119,938,791 (GRCm39)	F561S	probably damaging	Het
Ints2	T	C	11: 86,146,249 (GRCm39)	T120A	probably benign	Het
Kdm5d	G	A	Y: 914,056 (GRCm39)	R331H	probably benign	Het
Krt6b	A	G	15: 101,586,455 (GRCm39)	Y345H	probably damaging	Het
Limch1	A	G	5: 67,159,825 (GRCm39)	K418E	probably damaging	Het
Lrrc37	T	A	11: 103,511,726 (GRCm39)	T81S	unknown	Het
Med17	C	T	9: 15,173,735 (GRCm39)		probably null	Het
Met	A	T	6: 17,571,799 (GRCm39)	I1373F	probably benign	Het
Naip6	T	A	13: 100,436,894 (GRCm39)	Q543L	possibly damaging	Het
Nat9	T	C	11: 115,075,902 (GRCm39)	T40A	probably damaging	Het
Ogdh	A	G	11: 6,292,619 (GRCm39)	N455S	probably damaging	Het
Or52k2	C	A	7: 102,254,207 (GRCm39)	F215L	probably benign	Het
Pde4a	T	C	9: 21,117,534 (GRCm39)	F599L	probably benign	Het
Pga5	T	C	19: 10,649,173 (GRCm39)	Y249C	probably damaging	Het
Plekha8	A	T	6: 54,607,539 (GRCm39)	K382M	probably damaging	Het
Plekhd1	A	T	12: 80,753,149 (GRCm39)	E119V	probably damaging	Het
Pnp	A	T	14: 51,185,356 (GRCm39)	H20L	probably benign	Het
Polq	A	T	16: 36,837,559 (GRCm39)		probably null	Het
Psma3	T	G	12: 71,035,250 (GRCm39)	I177R	probably damaging	Het
Ptpn3	A	G	4: 57,240,784 (GRCm39)		probably null	Het
Ptprt	A	T	2: 161,400,806 (GRCm39)	L1077Q	probably damaging	Het
Rbm47	A	T	5: 66,184,573 (GRCm39)	M10K	possibly damaging	Het
Rere	A	G	4: 150,703,653 (GRCm39)	D186G	probably damaging	Het
Rpl24	T	C	16: 55,787,453 (GRCm39)	S38P	probably damaging	Het
Slco1a1	A	T	6: 141,885,787 (GRCm39)	F79L	possibly damaging	Het
Sorl1	T	A	9: 41,903,041 (GRCm39)	D1551V	probably benign	Het
Sos1	C	A	17: 80,741,548 (GRCm39)	M412I	probably benign	Het
Spast	G	A	17: 74,666,293 (GRCm39)	V209I	probably benign	Het
Spindoc	G	T	19: 7,335,769 (GRCm39)	Q340K	possibly damaging	Het
Tlr6	T	C	5: 65,111,185 (GRCm39)	Y574C	probably damaging	Het
Tnrc6a	A	G	7: 122,791,346 (GRCm39)	N1748S	possibly damaging	Het
Trbv13-2	A	T	6: 41,098,474 (GRCm39)	K16N	probably benign	Het
Triobp	C	T	15: 78,878,326 (GRCm39)	H1750Y	possibly damaging	Het
Usp24	A	G	4: 106,225,933 (GRCm39)	D659G	possibly damaging	Het
Vmn2r88	T	A	14: 51,656,253 (GRCm39)	C821S	probably damaging	Het
Whamm	T	A	7: 81,224,295 (GRCm39)	V197D	probably damaging	Het
Zfp777	A	G	6: 48,006,101 (GRCm39)	F431S	probably damaging	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
R7764:Ubc	UTSW	5	125,465,133 (GRCm39)	missense	possibly damaging	0.78
R8097:Ubc	UTSW	5	125,466,982 (GRCm39)	start gained	probably benign
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'- AGATCTGCATCCCACCTCTGAG -3'
(R):5'- AGCCCAGTGACACCATTGAG -3'

Sequencing Primer
(F):5'- ATCCCACCTCTGAGGCGAAG -3'
(R):5'- CAGTGACACCATTGAGAATGTC -3'

Posted On

2020-09-02