Mutagenetix > Incidental Mutation

Incidental Mutation 'R6318:Ubc'

510273

Institutional Source

Beutler Lab

Gene Symbol

Ubc

Ensembl Gene

ENSMUSG00000008348

Gene Name

ubiquitin C

Synonyms

2700054O04Rik

MMRRC Submission

044473-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6318 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

125463029-125467081 bp(-) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

A to G at 125465324 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 1 (M1T)

Ref Sequence

ENSEMBL: ENSMUSP00000104347 (fasta)

Gene Model

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

AlphaFold

P0CG50

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 null
Transcript: ENSMUST00000108707
AA Change: M1T

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000104347
Gene: ENSMUSG00000008348
AA Change: M1T

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 null
Transcript: ENSMUST00000136312
AA Change: M1T

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000114180
Gene: ENSMUSG00000008348
AA Change: M1T

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 null
Transcript: ENSMUST00000156249
AA Change: M1T

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000115578
Gene: ENSMUSG00000008348
AA Change: M1T

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

Meta Mutation Damage Score

0.9749

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 97.3%

Validation Efficiency

99% (74/75)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700102P08Rik	A	G	9: 108,270,474 (GRCm39)	T13A	possibly damaging	Het
Abcg4	T	C	9: 44,186,645 (GRCm39)	T500A	probably benign	Het
Adcy4	T	A	14: 56,006,681 (GRCm39)	I1051F	probably damaging	Het
Adgrg6	A	T	10: 14,343,241 (GRCm39)	N235K	probably benign	Het
Aldh3a2	A	C	11: 61,153,245 (GRCm39)	Y160*	probably null	Het
Arhgef4	G	A	1: 34,762,558 (GRCm39)	A605T	unknown	Het
Armt1	T	C	10: 4,400,859 (GRCm39)	M202T	probably benign	Het
Brd2	C	A	17: 34,331,872 (GRCm39)	V349F	probably damaging	Het
Btnl10	A	T	11: 58,817,691 (GRCm39)		probably benign	Het
Ccdc178	A	G	18: 22,253,591 (GRCm39)	V216A	possibly damaging	Het
Ccdc85c	A	T	12: 108,240,968 (GRCm39)	L142Q	unknown	Het
Cdc27	A	T	11: 104,419,520 (GRCm39)	S172T	probably damaging	Het
Ceacam14	T	C	7: 17,548,237 (GRCm39)	I109T	probably damaging	Het
Ces5a	C	T	8: 94,261,211 (GRCm39)	G72E	probably damaging	Het
Cfb	A	G	17: 35,080,800 (GRCm39)	Y66H	possibly damaging	Het
Clec14a	G	A	12: 58,315,001 (GRCm39)	P207L	probably damaging	Het
Clec16a	G	A	16: 10,448,652 (GRCm39)	R599H	probably damaging	Het
Csmd1	A	T	8: 15,953,212 (GRCm39)	I3423N	probably damaging	Het
Cyp4a29	C	A	4: 115,107,396 (GRCm39)	N243K	probably benign	Het
Ddx59	T	C	1: 136,344,610 (GRCm39)	F94L	probably damaging	Het
Dusp3	A	C	11: 101,877,697 (GRCm39)	V19G	probably benign	Het
Fat3	T	C	9: 15,828,280 (GRCm39)		probably benign	Het
Fgfr4	T	A	13: 55,313,921 (GRCm39)	V545E	probably damaging	Het
Fxn	G	T	19: 24,257,790 (GRCm39)	A47D	probably damaging	Het
Gdpgp1	A	T	7: 79,888,898 (GRCm39)	I310F	possibly damaging	Het
Gm7210	A	T	7: 11,328,040 (GRCm39)		noncoding transcript	Het
Grm7	G	T	6: 111,335,836 (GRCm39)	C749F	probably damaging	Het
Hps4	T	G	5: 112,494,495 (GRCm39)	V26G	probably damaging	Het
Igf1r	A	G	7: 67,814,981 (GRCm39)	D294G	probably benign	Het
Immp1l	T	C	2: 105,761,172 (GRCm39)	F27S	probably benign	Het
Kcnk3	T	A	5: 30,779,930 (GRCm39)	C327S	probably damaging	Het
Kif13a	T	A	13: 46,968,683 (GRCm39)		probably null	Het
Krtap5-4	T	C	7: 141,857,827 (GRCm39)	S166P	unknown	Het
Lyst	G	A	13: 13,917,896 (GRCm39)	D3319N	possibly damaging	Het
Malrd1	T	G	2: 16,047,078 (GRCm39)	S1735A	unknown	Het
Myh4	A	G	11: 67,134,268 (GRCm39)	T308A	probably benign	Het
Myh8	A	T	11: 67,190,167 (GRCm39)	Q1269L	probably benign	Het
Myo15b	G	A	11: 115,781,657 (GRCm39)	V1367I	probably damaging	Het
Nae1	T	C	8: 105,250,269 (GRCm39)	D208G	probably benign	Het
Nelfe	T	A	17: 35,073,432 (GRCm39)	V296D	probably damaging	Het
Nkapd1	T	C	9: 50,518,761 (GRCm39)	R284G	probably benign	Het
Npepps	A	T	11: 97,109,374 (GRCm39)	V734E	probably damaging	Het
Ogdh	A	G	11: 6,299,390 (GRCm39)	N752S	probably damaging	Het
Or11i1	T	C	3: 106,729,503 (GRCm39)	D124G	probably damaging	Het
Or3a1b	A	T	11: 74,012,547 (GRCm39)	Q144L	possibly damaging	Het
Or5t9	A	G	2: 86,659,998 (GRCm39)	I301V	possibly damaging	Het
Or8b1	T	C	9: 38,399,673 (GRCm39)	M116T	probably benign	Het
Otof	C	A	5: 30,571,888 (GRCm39)	G171V	probably damaging	Het
Phtf2	A	T	5: 21,006,939 (GRCm39)	V208D	probably damaging	Het
Pkn1	T	A	8: 84,410,220 (GRCm39)	T340S	probably damaging	Het
Plcd4	C	T	1: 74,602,753 (GRCm39)	L668F	possibly damaging	Het
Plch1	C	T	3: 63,688,811 (GRCm39)	W131*	probably null	Het
Prss50	A	T	9: 110,690,367 (GRCm39)	D170V	probably damaging	Het
Ptprg	T	C	14: 12,237,118 (GRCm38)	V604A	probably damaging	Het
Rab33b	T	C	3: 51,400,826 (GRCm39)	V100A	probably damaging	Het
Rbm26	T	A	14: 105,368,971 (GRCm39)	D736V	probably damaging	Het
Rela	C	A	19: 5,696,992 (GRCm39)	P400T	probably benign	Het
Rpusd4	T	C	9: 35,179,334 (GRCm39)	L50P	probably damaging	Het
Scn10a	A	C	9: 119,456,181 (GRCm39)	Y1214D	probably damaging	Het
Sema3c	A	G	5: 17,877,430 (GRCm39)	E179G	probably damaging	Het
Skint5	T	A	4: 113,374,330 (GRCm39)	D1253V	unknown	Het
Sp4	G	T	12: 118,201,913 (GRCm39)	P771H	probably damaging	Het
Sphkap	T	A	1: 83,256,099 (GRCm39)	Y263F	probably damaging	Het
Ssbp1	G	A	6: 40,453,687 (GRCm39)	V78I	probably benign	Het
St3gal6	A	G	16: 58,306,769 (GRCm39)	I87T	probably benign	Het
Tango6	T	A	8: 107,545,129 (GRCm39)	D997E	probably benign	Het
Tpr	C	T	1: 150,321,639 (GRCm39)	P2265S	possibly damaging	Het
Ttc7b	A	T	12: 100,291,936 (GRCm39)	F212Y	probably damaging	Het
Vill	G	C	9: 118,892,716 (GRCm39)	Q376H	probably benign	Het
Yes1	T	C	5: 32,809,030 (GRCm39)	I132T	possibly damaging	Het
Ythdc2	A	G	18: 44,993,444 (GRCm39)	T830A	probably benign	Het
Zbtb41	T	A	1: 139,358,044 (GRCm39)	F451I	possibly damaging	Het
Zfp995	C	T	17: 22,099,493 (GRCm39)	C247Y	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
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
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'- AAGATCTGCATGCCACCTCTG -3'
(R):5'- ACCATGCCGAGGTTTCTTAAC -3'

Sequencing Primer
(F):5'- ACCTCTGAGGCGAAGGAC -3'
(R):5'- CCGAGGTTTCTTAACTTTGTTAGTC -3'

Posted On

2018-04-02