Mutagenetix > Incidental Mutation

Incidental Mutation 'R4035:Ube2z'

313688

Institutional Source

Beutler Lab

Gene Symbol

Ube2z

Ensembl Gene

ENSMUSG00000014349

Gene Name

ubiquitin-conjugating enzyme E2Z

Synonyms

C030047H17Rik

MMRRC Submission

041613-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.793) question?

Stock #

R4035 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

95938257-95956190 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 95951893 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 152 (F152L)

Ref Sequence

ENSEMBL: ENSMUSP00000098097 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100528]

AlphaFold

Q3UE37

Predicted Effect

probably damaging
Transcript: ENSMUST00000100528
AA Change: F152L

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

SMART Domains

Protein: ENSMUSP00000098097
Gene: ENSMUSG00000014349
AA Change: F152L

Domain	Start	End	E-Value	Type
low complexity region	2	42	N/A	INTRINSIC
low complexity region	49	84	N/A	INTRINSIC
UBCc	104	255	2.26e-35	SMART
low complexity region	338	344	N/A	INTRINSIC

Meta Mutation Damage Score

0.3328

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

100% (51/51)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme which ubiquitinates proteins which participate in signaling pathways and apoptosis. [provided by RefSeq, Feb 2012]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013D24Rik	A	G	6: 124,333,879 (GRCm39)	F34L	probably benign	Het
Abcb8	A	G	5: 24,605,619 (GRCm39)	S168G	probably benign	Het
Ano5	A	G	7: 51,216,233 (GRCm39)		probably benign	Het
Api5	C	T	2: 94,255,958 (GRCm39)	R243Q	possibly damaging	Het
Bhlhe41	A	G	6: 145,808,754 (GRCm39)	S353P	probably benign	Het
Ccdc88c	G	A	12: 100,896,783 (GRCm39)	A1389V	possibly damaging	Het
Cep350	T	C	1: 155,835,541 (GRCm39)	T52A	probably benign	Het
Coro2b	A	G	9: 62,333,071 (GRCm39)		probably benign	Het
Ctcf	A	T	8: 106,390,789 (GRCm39)	E132V	possibly damaging	Het
Cwf19l2	A	T	9: 3,456,803 (GRCm39)	H712L	probably benign	Het
Cxcl2	A	T	5: 91,052,272 (GRCm39)	Q87L	possibly damaging	Het
Dop1a	T	C	9: 86,376,486 (GRCm39)	V240A	probably damaging	Het
Etfdh	C	T	3: 79,521,018 (GRCm39)	V294I	probably benign	Het
Fnip2	C	T	3: 79,386,808 (GRCm39)	V973I	probably benign	Het
Fyco1	T	C	9: 123,630,348 (GRCm39)	T1286A	probably benign	Het
Gbp10	T	A	5: 105,372,324 (GRCm39)	E145D	possibly damaging	Het
Gsdme	A	T	6: 50,206,428 (GRCm39)	N138K	possibly damaging	Het
Hcn4	A	G	9: 58,751,172 (GRCm39)	D266G	probably benign	Het
Henmt1	T	C	3: 108,866,001 (GRCm39)	V199A	probably damaging	Het
Hmcn2	A	T	2: 31,226,624 (GRCm39)	K200*	probably null	Het
Hmgcr	C	G	13: 96,787,571 (GRCm39)	L852F	probably damaging	Het
Ifi203	T	A	1: 173,757,040 (GRCm39)		probably benign	Het
Isl2	A	G	9: 55,449,754 (GRCm39)	S119G	probably benign	Het
Krba1	A	G	6: 48,388,614 (GRCm39)	N538D	probably damaging	Het
Lcorl	A	T	5: 45,891,383 (GRCm39)	N323K	possibly damaging	Het
Mfsd2b	A	G	12: 4,920,578 (GRCm39)	S80P	probably damaging	Het
Ndst4	C	T	3: 125,232,385 (GRCm39)	T318M	probably damaging	Het
Nlrp4f	T	C	13: 65,341,821 (GRCm39)	N608S	probably benign	Het
Nolc1	GCA	GCACCA	19: 46,069,797 (GRCm39)		probably benign	Het
Or6d12	A	G	6: 116,493,590 (GRCm39)	N284S	possibly damaging	Het
Or8b4	G	A	9: 37,829,937 (GRCm39)		probably benign	Het
Osbpl2	G	A	2: 179,803,353 (GRCm39)	R475H	probably damaging	Het
Ppfibp1	A	G	6: 146,898,334 (GRCm39)	K97E	probably damaging	Het
Pramel26	T	A	4: 143,537,026 (GRCm39)	D435V	probably benign	Het
Prpsap1	A	T	11: 116,363,834 (GRCm39)	M263K	probably benign	Het
Prtg	G	T	9: 72,749,991 (GRCm39)	E132*	probably null	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Rttn	T	C	18: 89,013,777 (GRCm39)	V482A	probably benign	Het
Samsn1	A	G	16: 75,706,073 (GRCm39)	M1T	probably null	Het
Scel	A	G	14: 103,767,440 (GRCm39)	N33S	probably damaging	Het
Sema4g	A	T	19: 44,989,853 (GRCm39)	Y644F	probably damaging	Het
Slc39a10	G	A	1: 46,851,234 (GRCm39)	T752M	probably damaging	Het
Snx27	T	C	3: 94,431,551 (GRCm39)	D281G	probably damaging	Het
Spesp1	T	A	9: 62,180,318 (GRCm39)	I197L	probably benign	Het
Srsf4	C	T	4: 131,627,413 (GRCm39)		probably benign	Het
Tpgs1	A	G	10: 79,505,199 (GRCm39)		probably null	Het
Trpc2	G	A	7: 101,733,711 (GRCm39)	S220N	probably damaging	Het
Ttk	C	A	9: 83,736,890 (GRCm39)	P450T	possibly damaging	Het
Ttn	T	G	2: 76,740,165 (GRCm39)	Q3458P	probably benign	Het
Utp20	C	T	10: 88,598,668 (GRCm39)	V103I	probably benign	Het
Zfa-ps	T	A	10: 52,420,636 (GRCm39)		noncoding transcript	Het
Zfp267	T	G	3: 36,218,989 (GRCm39)	H337Q	possibly damaging	Het

Other mutations in Ube2z

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01100:Ube2z	APN	11	95,953,849 (GRCm39)	missense	probably damaging	1.00
IGL01903:Ube2z	APN	11	95,955,826 (GRCm39)	missense	possibly damaging	0.67
ub40	UTSW	11	95,941,233 (GRCm39)	missense	probably damaging	1.00
R0501:Ube2z	UTSW	11	95,941,114 (GRCm39)	missense	probably damaging	0.99
R5033:Ube2z	UTSW	11	95,941,148 (GRCm39)	missense	probably benign
R5067:Ube2z	UTSW	11	95,953,835 (GRCm39)	missense	probably benign	0.27
R5913:Ube2z	UTSW	11	95,951,889 (GRCm39)	missense	possibly damaging	0.56
R6284:Ube2z	UTSW	11	95,941,233 (GRCm39)	missense	probably damaging	1.00
R7447:Ube2z	UTSW	11	95,946,736 (GRCm39)	missense	possibly damaging	0.84
R8134:Ube2z	UTSW	11	95,949,200 (GRCm39)	missense	possibly damaging	0.95
X0019:Ube2z	UTSW	11	95,955,937 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- TTGCTAATACCAACTTGGCCTC -3'
(R):5'- CTATGTACATGAGTGAGCCCAG -3'

Sequencing Primer
(F):5'- GGCCTCTTACAAGTCTCTTCTTAC -3'
(R):5'- AGTGAGCCCAGGTGGTTC -3'

Posted On

2015-04-30