Mutagenetix > Incidental Mutation

Incidental Mutation 'R4940:Ubc'

382992

Institutional Source

Beutler Lab

Gene Symbol

Ubc

Ensembl Gene

ENSMUSG00000008348

Gene Name

ubiquitin C

Synonyms

2700054O04Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4940 (G1)

Quality Score

132

Status

Not validated

Chromosome

Chromosomal Location

125463029-125467081 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 125463293 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 678 (V678A)

Ref Sequence

ENSEMBL: ENSMUSP00000115578 (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 benign
Transcript: ENSMUST00000108707

SMART Domains

Protein: ENSMUSP00000104347
Gene: ENSMUSG00000008348

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 benign
Transcript: ENSMUST00000136312
AA Change: V678A

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000114180
Gene: ENSMUSG00000008348
AA Change: V678A

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 benign
Transcript: ENSMUST00000156249
AA Change: V678A

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000115578
Gene: ENSMUSG00000008348
AA Change: V678A

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: 99.1%
3x: 98.3%
10x: 96.5%
20x: 93.3%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931414P19Rik	T	C	14: 54,828,782 (GRCm39)	T240A	probably benign	Het
Abca15	T	C	7: 119,931,917 (GRCm39)	Y57H	probably benign	Het
Adgrf4	A	G	17: 42,977,420 (GRCm39)	I641T	possibly damaging	Het
Ankrd11	A	G	8: 123,616,560 (GRCm39)	Y2410H	probably damaging	Het
Apbb2	C	A	5: 66,609,604 (GRCm39)	L14F	probably null	Het
Arhgdia	T	C	11: 120,470,061 (GRCm39)	D204G	probably damaging	Het
Armh4	A	T	14: 50,010,939 (GRCm39)	M256K	probably benign	Het
Catsperd	A	T	17: 56,969,736 (GRCm39)	Y610F	possibly damaging	Het
Cblb	T	A	16: 51,853,466 (GRCm39)	D27E	probably damaging	Het
Ccdc180	A	T	4: 45,917,453 (GRCm39)	I893F	probably damaging	Het
Ccdc180	A	G	4: 45,917,508 (GRCm39)	H911R	probably damaging	Het
Cdh23	T	A	10: 60,143,714 (GRCm39)	I2966F	probably damaging	Het
Cfap299	A	G	5: 98,885,495 (GRCm39)	H134R	possibly damaging	Het
Chat	G	A	14: 32,141,062 (GRCm39)	P445L	probably damaging	Het
Chdh	G	T	14: 29,754,809 (GRCm39)	R273L	possibly damaging	Het
Clic3	T	C	2: 25,347,929 (GRCm39)	V72A	probably benign	Het
Cyp2d12	T	A	15: 82,442,251 (GRCm39)	D244E	probably benign	Het
Ddr1	T	A	17: 36,001,022 (GRCm39)	D241V	probably damaging	Het
Dock7	T	A	4: 98,908,314 (GRCm39)	K605N	probably damaging	Het
Dsg2	T	A	18: 20,712,487 (GRCm39)	F164I	probably damaging	Het
Dstyk	T	A	1: 132,380,844 (GRCm39)	N446K	probably damaging	Het
Epb42	A	T	2: 120,864,932 (GRCm39)	L53Q	probably damaging	Het
Extl2	G	C	3: 115,820,841 (GRCm39)	K229N	probably benign	Het
Frmd4b	T	A	6: 97,275,051 (GRCm39)	S617C	probably damaging	Het
Fscb	C	T	12: 64,520,588 (GRCm39)	V293I	probably benign	Het
Glp2r	G	T	11: 67,648,419 (GRCm39)	Y94*	probably null	Het
Gm4978	A	C	9: 69,358,154 (GRCm39)		probably benign	Het
Gm6729	A	G	10: 86,376,252 (GRCm39)		noncoding transcript	Het
Gnat2	A	C	3: 108,007,932 (GRCm39)	N293T	probably benign	Het
Herpud1	T	C	8: 95,117,470 (GRCm39)	I142T	probably benign	Het
Irak2	G	A	6: 113,670,691 (GRCm39)	V536I	probably benign	Het
Kcnu1	A	T	8: 26,387,890 (GRCm39)		probably null	Het
Kdm4a	A	G	4: 118,018,951 (GRCm39)	S422P	probably benign	Het
Lair1	T	A	7: 4,031,948 (GRCm39)	D53V	probably benign	Het
Lhx1	G	T	11: 84,410,735 (GRCm39)	Y196*	probably null	Het
Lrrc37a	G	A	11: 103,388,438 (GRCm39)	T2329I	unknown	Het
Mag	T	C	7: 30,608,625 (GRCm39)	D163G	probably damaging	Het
Magi3	A	G	3: 103,958,708 (GRCm39)	V459A	probably damaging	Het
Med13	A	G	11: 86,178,944 (GRCm39)	Y1451H	probably damaging	Het
Megf8	T	A	7: 25,060,131 (GRCm39)	C2341S	probably damaging	Het
Mppe1	A	G	18: 67,361,095 (GRCm39)	C221R	probably damaging	Het
Mtus1	T	A	8: 41,494,515 (GRCm39)	H39L	possibly damaging	Het
Nkpd1	C	T	7: 19,257,498 (GRCm39)	Q276*	probably null	Het
Nkx3-1	G	A	14: 69,428,367 (GRCm39)	G72S	probably benign	Het
Nutm2	T	C	13: 50,628,909 (GRCm39)	C658R	possibly damaging	Het
Olfm1	T	C	2: 28,112,602 (GRCm39)	V239A	possibly damaging	Het
Pcnx1	C	T	12: 81,964,567 (GRCm39)	H245Y	possibly damaging	Het
Pgm3	A	G	9: 86,441,529 (GRCm39)	L356S	probably damaging	Het
Pik3r4	C	G	9: 105,546,193 (GRCm39)	H207D	probably benign	Het
Pkd1l1	T	C	11: 8,794,585 (GRCm39)	T1859A	probably benign	Het
Pon3	A	T	6: 5,221,625 (GRCm39)	V335E	possibly damaging	Het
Ppp4r3b	A	G	11: 29,161,740 (GRCm39)	T705A	probably benign	Het
Prmt7	T	C	8: 106,963,910 (GRCm39)	V268A	probably benign	Het
Psd	C	T	19: 46,310,856 (GRCm39)	G398R	probably damaging	Het
Pygl	A	G	12: 70,253,155 (GRCm39)	V188A	probably damaging	Het
Rnf13	T	A	3: 57,703,627 (GRCm39)	N110K	probably damaging	Het
Rnf170	C	T	8: 26,615,939 (GRCm39)	Q77*	probably null	Het
Rrp8	A	T	7: 105,383,284 (GRCm39)	Y327*	probably null	Het
Ruvbl2	T	C	7: 45,074,150 (GRCm39)	D228G	probably damaging	Het
Scgn	T	A	13: 24,173,807 (GRCm39)	T35S	probably benign	Het
Scyl3	C	T	1: 163,762,316 (GRCm39)	P74S	probably damaging	Het
Sec61b	T	G	4: 47,483,074 (GRCm39)	S123A	probably benign	Het
Sertad2	T	C	11: 20,597,899 (GRCm39)	S32P	possibly damaging	Het
Slc23a3	T	C	1: 75,110,447 (GRCm39)		probably null	Het
Sult2a2	T	G	7: 13,472,223 (GRCm39)	V140G	probably benign	Het
Tbc1d4	A	T	14: 101,744,667 (GRCm39)	S320T	probably benign	Het
Trabd2b	T	C	4: 114,266,141 (GRCm39)	Y52H	probably damaging	Het
Traf2	T	C	2: 25,420,300 (GRCm39)	E183G	probably null	Het
Trip10	G	T	17: 57,570,017 (GRCm39)	V561F	possibly damaging	Het
Ttc7	G	T	17: 87,614,386 (GRCm39)	V184F	probably benign	Het
Unk	A	G	11: 115,944,491 (GRCm39)	E414G	possibly damaging	Het
Usp42	T	C	5: 143,705,517 (GRCm39)	N365D	probably damaging	Het
Zbtb26	A	T	2: 37,326,781 (GRCm39)	I85K	probably damaging	Het
Zfhx2	A	T	14: 55,303,891 (GRCm39)	H1364Q	possibly 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
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
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'- AGTGCAATGAAACTTGTTAACAGC -3'
(R):5'- CAAGACCATCACCCTGGAGG -3'

Sequencing Primer
(F):5'- ACTTGTTAACAGCTTAAAAGATAGGG -3'
(R):5'- GTCGAGCCCAGTGACACCATAG -3'

Posted On

2016-04-27