Mutagenetix > Incidental Mutation

Incidental Mutation 'R9621:Ubc'

724785

Institutional Source

Beutler Lab

Gene Symbol

Ubc

Ensembl Gene

ENSMUSG00000008348

Gene Name

ubiquitin C

Synonyms

2700054O04Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9621 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

125463029-125467081 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 125464511 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 272 (I272T)

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

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 damaging
Transcript: ENSMUST00000136312
AA Change: I272T

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

SMART Domains

Protein: ENSMUSP00000114180
Gene: ENSMUSG00000008348
AA Change: I272T

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: I272T

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

SMART Domains

Protein: ENSMUSP00000115578
Gene: ENSMUSG00000008348
AA Change: I272T

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: 99.6%
20x: 98.9%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	T	C	4: 53,092,918 (GRCm39)	T289A	probably benign	Het
Adnp	A	T	2: 168,024,663 (GRCm39)	S877R	probably benign	Het
Akap13	T	A	7: 75,386,090 (GRCm39)	H555Q	probably benign	Het
Alg6	T	A	4: 99,615,131 (GRCm39)	Y38*	probably null	Het
Amtn	C	A	5: 88,528,205 (GRCm39)	Q93K	probably benign	Het
Ap2b1	T	C	11: 83,293,424 (GRCm39)	V937A	probably damaging	Het
Arih1	ATCGTCCGGCTCGTCCTCGTCGTCGTCC	ATCGTCC	9: 59,393,520 (GRCm39)		probably benign	Het
Atosa	A	G	9: 74,917,512 (GRCm39)	N711D	possibly damaging	Het
Bhmt	A	G	13: 93,758,079 (GRCm39)	S211P	possibly damaging	Het
Bltp3a	T	A	17: 28,105,753 (GRCm39)	S760T	probably benign	Het
Bmp1	T	C	14: 70,715,306 (GRCm39)	Y943C	probably benign	Het
Calcoco2	TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 95,990,862 (GRCm39)		probably null	Het
Cbfb	A	C	8: 105,905,243 (GRCm39)	T62P	probably damaging	Het
Ccdc154	T	C	17: 25,386,355 (GRCm39)	F249L	probably damaging	Het
Cdh26	T	A	2: 178,111,983 (GRCm39)	F514L	probably damaging	Het
Cdhr2	A	G	13: 54,866,350 (GRCm39)	E352G		Het
Cep295nl	G	A	11: 118,224,766 (GRCm39)	P26L	possibly damaging	Het
Cfdp1	A	G	8: 112,571,807 (GRCm39)	V34A	probably damaging	Het
Cntnap2	A	T	6: 46,965,726 (GRCm39)	I846F	probably damaging	Het
Cntrl	A	G	2: 35,050,278 (GRCm39)	K1464E	probably damaging	Het
Crybg3	T	C	16: 59,326,613 (GRCm39)	D1039G	possibly damaging	Het
Csmd3	A	T	15: 47,713,116 (GRCm39)	S778R		Het
Daam2	C	T	17: 49,780,332 (GRCm39)	C729Y	probably damaging	Het
Ddx18	T	C	1: 121,489,132 (GRCm39)	H305R	probably damaging	Het
Dio1	C	T	4: 107,149,558 (GRCm39)	C248Y	probably benign	Het
Dnah1	C	A	14: 31,016,772 (GRCm39)	A1582S	probably damaging	Het
Eef1a1	A	T	9: 78,386,632 (GRCm39)	D319E	probably benign	Het
Fam171b	G	A	2: 83,643,109 (GRCm39)	R6H	probably damaging	Het
Flnb	G	A	14: 7,926,421 (GRCm38)	G1822R	probably damaging	Het
Gabrb1	G	A	5: 72,279,363 (GRCm39)	V303I	possibly damaging	Het
Gli3	T	G	13: 15,901,253 (GRCm39)	S1547A	probably benign	Het
Gm4884	A	T	7: 40,693,111 (GRCm39)	N360I	possibly damaging	Het
Ift70b	T	C	2: 75,768,144 (GRCm39)	Y203C	probably damaging	Het
Il1rl2	CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT	CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT	1: 40,366,470 (GRCm39)		probably benign	Het
Ino80	C	G	2: 119,280,496 (GRCm39)	K289N	probably damaging	Het
Itpr1	G	A	6: 108,393,870 (GRCm39)	E1638K	probably damaging	Het
Jakmip1	A	T	5: 37,274,812 (GRCm39)	I45F	unknown	Het
Kif1a	G	A	1: 92,983,445 (GRCm39)	P684L	probably benign	Het
Kpnb1	A	T	11: 97,058,460 (GRCm39)	S610T	probably benign	Het
Man1a2	A	G	3: 100,591,961 (GRCm39)	V73A	probably benign	Het
Mbtps1	A	G	8: 120,235,621 (GRCm39)	V1019A	possibly damaging	Het
Muc21	T	A	17: 35,932,720 (GRCm39)	T489S	unknown	Het
Nup210	G	C	6: 90,994,375 (GRCm39)	N1774K	probably benign	Het
Or10p21	G	T	10: 128,847,759 (GRCm39)	V202F	probably benign	Het
Pik3c2b	T	C	1: 132,999,345 (GRCm39)	S398P	probably damaging	Het
Pmpca	A	G	2: 26,279,988 (GRCm39)	T37A	probably benign	Het
Ppfia1	A	G	7: 144,052,516 (GRCm39)	S840P	probably damaging	Het
Prkcq	A	T	2: 11,261,014 (GRCm39)	K355N	probably benign	Het
Prorp	C	A	12: 55,429,042 (GRCm39)	H538N	probably benign	Het
Ptprg	A	G	14: 12,237,809 (GRCm38)	K1422R	probably benign	Het
Ptprq	T	C	10: 107,378,523 (GRCm39)	E2006G	probably damaging	Het
Qsox1	TG	T	1: 155,671,135 (GRCm39)		probably null	Het
Rcor2	A	T	19: 7,251,591 (GRCm39)	T412S	probably benign	Het
Rnf224	A	T	2: 25,126,200 (GRCm39)	M51K	probably benign	Het
Robo4	A	G	9: 37,317,509 (GRCm39)	D521G	probably damaging	Het
Sf3b4	T	A	3: 96,084,115 (GRCm39)	S360T	unknown	Het
Sgo2b	T	C	8: 64,380,651 (GRCm39)	D727G	probably damaging	Het
Smpd2	C	A	10: 41,364,283 (GRCm39)	V172L	probably benign	Het
Spring1	C	T	5: 118,393,880 (GRCm39)	T86I	possibly damaging	Het
Syne1	C	T	10: 5,273,887 (GRCm39)	A1966T	probably benign	Het
Syt13	G	A	2: 92,745,575 (GRCm39)	G15D	possibly damaging	Het
Taf3	A	T	2: 9,923,070 (GRCm39)	L18Q	unknown	Het
Tcam1	T	A	11: 106,176,259 (GRCm39)	N328K	probably damaging	Het
Tekt2	C	T	4: 126,217,444 (GRCm39)	R207H	probably damaging	Het
Tet2	A	T	3: 133,193,767 (GRCm39)	Y222*	probably null	Het
Timm29	A	T	9: 21,504,218 (GRCm39)		probably benign	Het
Tmc6	T	C	11: 117,669,995 (GRCm39)	D17G	probably benign	Het
Tmem30a	T	A	9: 79,687,926 (GRCm39)	D81V	probably benign	Het
Tnnt1	T	C	7: 4,511,501 (GRCm39)	I195V	probably benign	Het
Ttll5	T	A	12: 85,938,896 (GRCm39)	V398E	possibly damaging	Het
Ttn	T	C	2: 76,748,441 (GRCm39)	T4203A	possibly damaging	Het
Unc45a	A	G	7: 79,983,785 (GRCm39)	L337P	probably damaging	Het
Vmn1r229	T	C	17: 21,035,315 (GRCm39)	F187L	probably benign	Het
Wrn	A	T	8: 33,814,301 (GRCm39)	M381K	probably benign	Het
Zdbf2	A	G	1: 63,342,635 (GRCm39)	N338S	possibly damaging	Het
Zfp541	A	G	7: 15,805,892 (GRCm39)	E9G	possibly damaging	Het
Zrsr2-ps1	G	A	11: 22,923,418 (GRCm39)	R64Q	possibly damaging	Het
Zswim8	T	A	14: 20,772,231 (GRCm39)	S1614T	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
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

Predicted Primers

PCR Primer
(F):5'- TTCTCAATGGTGTCACTGGG -3'
(R):5'- TCTTTGCAGGCAAGCAGCTG -3'

Sequencing Primer
(F):5'- AATGGTGTCACTGGGCTCGAC -3'
(R):5'- AAGATGGCCGCACCCTGTC -3'

Posted On

2022-09-12