Mutagenetix > Incidental Mutation

Incidental Mutation 'R3859:Ezhip'

276315

Institutional Source

Beutler Lab

Gene Symbol

Ezhip

Ensembl Gene

ENSMUSG00000073294

Gene Name

EZH inhibitory protein

Synonyms

AU022751

MMRRC Submission

040787-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R3859 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

5993273-5995473 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5994710 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 102 (S102P)

Ref Sequence

ENSEMBL: ENSMUSP00000099222 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000101698] [ENSMUST00000117544]

AlphaFold

B1B0V2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000101698
AA Change: S102P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000099222
Gene: ENSMUSG00000073294
AA Change: S102P

Domain	Start	End	E-Value	Type
low complexity region	19	42	N/A	INTRINSIC
low complexity region	113	134	N/A	INTRINSIC
low complexity region	174	190	N/A	INTRINSIC
low complexity region	200	216	N/A	INTRINSIC
low complexity region	226	242	N/A	INTRINSIC
low complexity region	252	292	N/A	INTRINSIC
low complexity region	314	344	N/A	INTRINSIC
low complexity region	388	407	N/A	INTRINSIC
low complexity region	412	426	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000117544
AA Change: S223P

SMART Domains

Protein: ENSMUSP00000114041
Gene: ENSMUSG00000073294
AA Change: S223P

Domain	Start	End	E-Value	Type
low complexity region	19	42	N/A	INTRINSIC
low complexity region	75	90	N/A	INTRINSIC
low complexity region	106	123	N/A	INTRINSIC
low complexity region	147	161	N/A	INTRINSIC
low complexity region	234	255	N/A	INTRINSIC
low complexity region	295	311	N/A	INTRINSIC
low complexity region	321	337	N/A	INTRINSIC
low complexity region	347	363	N/A	INTRINSIC
low complexity region	373	413	N/A	INTRINSIC
low complexity region	435	465	N/A	INTRINSIC
low complexity region	509	528	N/A	INTRINSIC
low complexity region	533	547	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181123

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

95% (36/38)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot4	A	G	12: 84,090,218 (GRCm39)	N305S	probably benign	Het
Ahnak	A	G	19: 8,988,223 (GRCm39)	E3169G	possibly damaging	Het
Cav2	G	T	6: 17,281,462 (GRCm39)	D35Y	probably damaging	Het
Cemip2	A	G	19: 21,829,598 (GRCm39)	T1236A	probably benign	Het
Cps1	A	G	1: 67,207,437 (GRCm39)	Y582C	probably damaging	Het
Ctla2b	T	A	13: 61,043,857 (GRCm39)	Y128F	possibly damaging	Het
Dnajc5b	G	T	3: 19,628,966 (GRCm39)	G87*	probably null	Het
Erc2	A	G	14: 28,197,599 (GRCm39)		probably benign	Het
Fat3	G	A	9: 15,908,524 (GRCm39)	Q2493*	probably null	Het
Fbl	G	A	7: 27,873,935 (GRCm39)		probably benign	Het
Fbp1	C	T	13: 63,012,930 (GRCm39)	G88S	probably damaging	Het
Fzd3	A	T	14: 65,477,288 (GRCm39)	C89S	possibly damaging	Het
Gnao1	C	T	8: 94,538,273 (GRCm39)		probably benign	Het
Hspa14	A	T	2: 3,495,616 (GRCm39)	C304*	probably null	Het
Itih4	T	C	14: 30,614,286 (GRCm39)	L412P	probably damaging	Het
Kdm2b	A	G	5: 123,018,290 (GRCm39)	L995P	probably damaging	Het
Krt12	G	A	11: 99,309,319 (GRCm39)	L314F	possibly damaging	Het
Nfatc1	T	C	18: 80,708,490 (GRCm39)		probably benign	Het
Or4c111	A	G	2: 88,844,405 (GRCm39)	M1T	probably null	Het
Or5b119	T	A	19: 13,457,494 (GRCm39)	I23F	possibly damaging	Het
Or8b55	G	A	9: 38,727,443 (GRCm39)	V215I	probably benign	Het
Papss1	T	A	3: 131,313,096 (GRCm39)	L349Q	probably benign	Het
Pcdha6	C	T	18: 37,102,984 (GRCm39)	P6S	possibly damaging	Het
Pik3r2	T	C	8: 71,222,630 (GRCm39)	E487G	probably damaging	Het
Pkd1	A	G	17: 24,797,066 (GRCm39)		probably benign	Het
Prl8a9	C	T	13: 27,742,147 (GRCm39)	G238E	probably damaging	Het
Pth2r	A	T	1: 65,361,206 (GRCm39)	I52F	probably damaging	Het
Purg	T	C	8: 33,876,587 (GRCm39)	F75S	possibly damaging	Het
Rpgrip1l	T	C	8: 91,990,286 (GRCm39)	T719A	probably benign	Het
Slc8a3	G	A	12: 81,361,646 (GRCm39)	P391L	probably damaging	Het
Syne2	T	C	12: 75,976,558 (GRCm39)	L1241P	possibly damaging	Het
Tdrd12	A	G	7: 35,193,245 (GRCm39)	F402L	possibly damaging	Het
Tle4	G	A	19: 14,445,577 (GRCm39)	T223I	probably benign	Het
Tram2	A	C	1: 21,074,204 (GRCm39)	F245V	probably damaging	Het
Trim30b	T	C	7: 104,006,487 (GRCm39)	E123G	probably benign	Het
Unc13c	G	T	9: 73,606,390 (GRCm39)	Y1323*	probably null	Het
Zfp2	T	C	11: 50,790,923 (GRCm39)	I373M	possibly damaging	Het

Other mutations in Ezhip

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1015:Ezhip	UTSW	X	5,994,645 (GRCm39)	small insertion	probably benign
R1102:Ezhip	UTSW	X	5,994,645 (GRCm39)	small insertion	probably benign
R1513:Ezhip	UTSW	X	5,994,645 (GRCm39)	small insertion	probably benign
R1885:Ezhip	UTSW	X	5,994,645 (GRCm39)	small insertion	probably benign
R1886:Ezhip	UTSW	X	5,994,645 (GRCm39)	small insertion	probably benign
R1887:Ezhip	UTSW	X	5,994,645 (GRCm39)	small insertion	probably benign
R1931:Ezhip	UTSW	X	5,994,817 (GRCm39)	missense	probably benign	0.07
R1996:Ezhip	UTSW	X	5,994,645 (GRCm39)	small insertion	probably benign
R2255:Ezhip	UTSW	X	5,994,754 (GRCm39)	missense	probably benign	0.03
R3857:Ezhip	UTSW	X	5,994,710 (GRCm39)	missense	possibly damaging	0.83
X0018:Ezhip	UTSW	X	5,994,029 (GRCm39)	missense	unknown
Z1176:Ezhip	UTSW	X	5,994,375 (GRCm39)	missense	unknown
Z1176:Ezhip	UTSW	X	5,994,368 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AAATTCCTGCCTGCGCTCTG -3'
(R):5'- AGTCTTCTCTGAGCCCTAGG -3'

Sequencing Primer
(F):5'- GTAAATTCCAGCCTGTGCACTGG -3'
(R):5'- GCCCTAGGCCTGACCAAAG -3'

Posted On

2015-04-06