Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01100:Ube2z'

52293

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ube2z

Ensembl Gene

ENSMUSG00000014349

Gene Name

ubiquitin-conjugating enzyme E2Z

Synonyms

C030047H17Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.793) question?

Stock #

IGL01100

Quality Score

Status

Chromosome

Chromosomal Location

95938257-95956190 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 95953849 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 123 (V123A)

Ref Sequence

ENSEMBL: ENSMUSP00000098097 (fasta)

Gene Model

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

AlphaFold

Q3UE37

Predicted Effect

probably damaging
Transcript: ENSMUST00000100528
AA Change: V123A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000098097
Gene: ENSMUSG00000014349
AA Change: V123A

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

Coding Region Coverage

Validation Efficiency

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	G	11: 9,224,673 (GRCm39)		probably null	Het
Abca8a	C	T	11: 109,949,249 (GRCm39)		probably null	Het
Acad11	A	G	9: 103,953,607 (GRCm39)	T32A	probably damaging	Het
Ak7	T	A	12: 105,679,833 (GRCm39)	N122K	probably benign	Het
Arrb1	A	T	7: 99,236,420 (GRCm39)		probably null	Het
Csde1	C	A	3: 102,947,841 (GRCm39)	R132S	possibly damaging	Het
Emilin1	A	G	5: 31,075,748 (GRCm39)	H663R	probably benign	Het
Etaa1	A	G	11: 17,902,576 (GRCm39)		probably null	Het
Fat3	A	T	9: 16,286,524 (GRCm39)	F1000I	probably damaging	Het
Foxj2	T	C	6: 122,805,350 (GRCm39)	L74P	probably damaging	Het
Gas6	C	T	8: 13,525,118 (GRCm39)	V289M	probably benign	Het
Gm10801	A	T	2: 98,494,328 (GRCm39)	Y135F	probably benign	Het
Ihh	C	T	1: 74,985,601 (GRCm39)	A295T	probably damaging	Het
Ip6k2	G	T	9: 108,682,943 (GRCm39)	S305I	probably damaging	Het
Kcnk2	A	G	1: 189,072,133 (GRCm39)	V65A	probably damaging	Het
Kif26b	G	A	1: 178,744,809 (GRCm39)	C1635Y	probably benign	Het
Klhdc4	G	A	8: 122,548,582 (GRCm39)	Q44*	probably null	Het
Madd	C	A	2: 90,988,385 (GRCm39)	R1216L	probably damaging	Het
Myo15a	T	A	11: 60,401,984 (GRCm39)	C3076S	probably damaging	Het
Or1l4	A	T	2: 37,091,652 (GRCm39)	H133L	possibly damaging	Het
Or52e18	T	A	7: 104,609,202 (GRCm39)	I246F	probably benign	Het
Polq	C	A	16: 36,881,474 (GRCm39)	P934T	probably benign	Het
Prkaa1	A	T	15: 5,203,799 (GRCm39)	K227M	probably damaging	Het
Psap	G	A	10: 60,135,708 (GRCm39)	G388S	probably benign	Het
Repin1	A	G	6: 48,573,839 (GRCm39)	E200G	probably damaging	Het
Samd9l	C	A	6: 3,375,863 (GRCm39)	S466I	possibly damaging	Het
Slc5a3	A	G	16: 91,876,110 (GRCm39)		probably benign	Het
Smg9	G	A	7: 24,116,376 (GRCm39)	V314M	probably damaging	Het
Tktl1	G	A	X: 73,244,232 (GRCm39)	R352H	probably benign	Het
Vmn1r176	A	T	7: 23,535,049 (GRCm39)	F35I	probably benign	Het
Zdhhc18	A	T	4: 133,340,269 (GRCm39)	Y293N	probably damaging	Het

Other mutations in Ube2z

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R4035:Ube2z	UTSW	11	95,951,893 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2013-06-21