Mutagenetix > Incidental Mutation

Incidental Mutation 'R4355:G2e3'

327507

Institutional Source

Beutler Lab

Gene Symbol

G2e3

Ensembl Gene

ENSMUSG00000035293

Gene Name

G2/M-phase specific E3 ubiquitin ligase

Synonyms

6030408C04Rik, D930034K21Rik

MMRRC Submission

041108-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.597) question?

Stock #

R4355 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

51348061-51376986 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 51365337 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 387 (Y387N)

Ref Sequence

ENSEMBL: ENSMUSP00000113270 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054308] [ENSMUST00000119211] [ENSMUST00000121521]

AlphaFold

Q5RJY2

Predicted Effect

probably benign
Transcript: ENSMUST00000054308
AA Change: Y364N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000054474
Gene: ENSMUSG00000035293
AA Change: Y364N

Domain	Start	End	E-Value	Type
SCOP:d1bqk__	2	74	1e-2	SMART
PHD	80	128	5.2e-3	SMART
RING	81	115	5.28e0	SMART
PHD	143	193	3.13e0	SMART
RING	144	192	4.48e-1	SMART
PHD	237	286	1.18e1	SMART
Pfam:HECT	402	692	2.7e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000119211
AA Change: Y387N

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000113270
Gene: ENSMUSG00000035293
AA Change: Y387N

Domain	Start	End	E-Value	Type
SCOP:d1bqk__	2	74	9e-3	SMART
PHD	80	128	5.2e-3	SMART
RING	81	115	5.28e0	SMART
PHD	143	193	3.13e0	SMART
RING	144	192	4.48e-1	SMART
PHD	237	286	1.18e1	SMART
Pfam:HECT	383	717	3.1e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000121521

SMART Domains

Protein: ENSMUSP00000113191
Gene: ENSMUSG00000035293

Domain	Start	End	E-Value	Type
SCOP:d1bqk__	2	74	9e-3	SMART
PHD	80	128	5.2e-3	SMART
RING	81	115	5.28e0	SMART
PHD	143	193	3.13e0	SMART
RING	144	192	4.48e-1	SMART
PHD	237	286	1.18e1	SMART
Pfam:HECT	298	598	4e-15	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144767

Meta Mutation Damage Score

0.0635

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

100% (57/57)

MGI Phenotype

PHENOTYPE: Embryos homozygous for a gene trap allele that inactivates this gene die prior to implantation due to massive apoptosis which results in involution of the blastocyst. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26a	T	G	8: 43,570,185	Q89H	probably benign	Het
Adgrb1	T	C	15: 74,543,662	F697S	probably damaging	Het
Adgrl2	A	T	3: 148,839,152	V769E	probably damaging	Het
Aldh7a1	A	T	18: 56,548,494	F173L	probably null	Het
Arntl	A	G	7: 113,303,406	I421V	possibly damaging	Het
Bcl3	G	T	7: 19,811,580	C208*	probably null	Het
Casz1	T	C	4: 148,952,335	S1685P	unknown	Het
Cep250	A	G	2: 155,991,525	E1789G	probably damaging	Het
Cep76	A	T	18: 67,626,640	D334E	probably benign	Het
Clca3b	A	T	3: 144,825,458		probably null	Het
Col9a3	A	G	2: 180,606,478	S208G	probably benign	Het
Ddx47	T	C	6: 135,021,505	V388A	probably benign	Het
Dync1h1	C	T	12: 110,632,899	A1896V	possibly damaging	Het
Eif2ak2	T	A	17: 78,858,534	R411S	probably benign	Het
F7	A	G	8: 13,034,774	T267A	probably benign	Het
Fras1	C	A	5: 96,700,242	D1770E	probably benign	Het
Hspg2	C	T	4: 137,529,418	L1491F	probably damaging	Het
Ighv3-4	T	C	12: 114,253,640	I110M	probably benign	Het
Itgb5	T	A	16: 33,844,997	C28S	probably damaging	Het
Kbtbd11	C	A	8: 15,028,578	N392K	probably damaging	Het
Kcnmb4	A	G	10: 116,473,284	S80P	possibly damaging	Het
Kif21a	C	T	15: 90,970,833	C721Y	probably benign	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Klrc3	T	C	6: 129,639,162	M189V	probably benign	Het
Macf1	T	A	4: 123,475,091	E394V	possibly damaging	Het
Mrgprb4	C	T	7: 48,198,701	G160R	possibly damaging	Het
Myb	A	G	10: 21,152,617	S116P	probably damaging	Het
Nf2	G	A	11: 4,780,613	Q513*	probably null	Het
Nmnat3	C	T	9: 98,410,152	T150M	possibly damaging	Het
Olfr361	C	A	2: 37,084,930	V273F	probably benign	Het
Olfr743	T	C	14: 50,533,759	C116R	possibly damaging	Het
Patj	T	G	4: 98,650,454	C210W	possibly damaging	Het
Pde3b	A	G	7: 114,416,287	H246R	probably benign	Het
Pnp2	A	G	14: 50,959,625	H56R	probably benign	Het
Prkg1	A	G	19: 30,569,229		probably benign	Het
Rhbdf1	C	T	11: 32,216,236	S8N	probably damaging	Het
Rimbp3	A	G	16: 17,209,692	K327E	possibly damaging	Het
Rnf219	A	G	14: 104,479,257	V560A	probably benign	Het
Rsph6a	T	A	7: 19,067,078		probably null	Het
Ryr2	T	C	13: 11,649,812	N3535S	probably benign	Het
Ssfa2	A	G	2: 79,641,998	N132S	probably benign	Het
Ston1	T	G	17: 88,637,008	V614G	probably damaging	Het
Svep1	T	A	4: 58,138,695	T466S	possibly damaging	Het
Tas2r109	A	T	6: 132,980,181	I262N	probably benign	Het
Tmtc1	T	C	6: 148,355,098		probably benign	Het
Tshz2	G	A	2: 169,884,938	E16K	possibly damaging	Het
Ufsp2	T	A	8: 45,985,465	S193R	possibly damaging	Het
Ugt2b5	C	A	5: 87,139,763	E182*	probably null	Het
Usp43	A	G	11: 67,891,464	V376A	probably benign	Het
Utp15	A	T	13: 98,259,247	F76I	possibly damaging	Het
Wdr62	A	C	7: 30,242,248	L1141R	probably damaging	Het
Zfp418	T	A	7: 7,172,162	M18K	probably benign	Het

Other mutations in G2e3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00500:G2e3	APN	12	51353798	critical splice acceptor site	probably null
IGL00793:G2e3	APN	12	51367762	missense	probably benign	0.00
IGL02222:G2e3	APN	12	51363233	missense	probably damaging	1.00
IGL02335:G2e3	APN	12	51369158	missense	probably benign	0.19
IGL03134:G2e3	APN	12	51364030	intron	probably benign
Amadeus	UTSW	12	51353789	splice site	probably null
theophilus	UTSW	12	51357145	nonsense	probably null
R1868:G2e3	UTSW	12	51353629	missense	probably benign	0.44
R2060:G2e3	UTSW	12	51372606	missense	probably damaging	1.00
R3814:G2e3	UTSW	12	51353661	missense	probably benign	0.28
R4360:G2e3	UTSW	12	51363414	splice site	probably benign
R4903:G2e3	UTSW	12	51371630	missense	probably benign	0.23
R4966:G2e3	UTSW	12	51371630	missense	probably benign	0.23
R4974:G2e3	UTSW	12	51369139	missense	probably benign	0.00
R5399:G2e3	UTSW	12	51357194	critical splice donor site	probably null
R5406:G2e3	UTSW	12	51372666	missense	probably damaging	0.97
R5739:G2e3	UTSW	12	51372504	missense	possibly damaging	0.94
R6225:G2e3	UTSW	12	51369136	missense	possibly damaging	0.77
R6625:G2e3	UTSW	12	51353789	splice site	probably null
R7458:G2e3	UTSW	12	51365507	missense	possibly damaging	0.67
R7529:G2e3	UTSW	12	51371604	missense	probably damaging	1.00
R7713:G2e3	UTSW	12	51369056	missense	probably damaging	0.99
R7748:G2e3	UTSW	12	51371667	missense	probably benign	0.00
R7998:G2e3	UTSW	12	51353841	missense	probably benign	0.04
R8972:G2e3	UTSW	12	51363494	missense	possibly damaging	0.90
R9330:G2e3	UTSW	12	51357145	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TTGCTGCAAATGATCATAAGTCGG -3'
(R):5'- CTGATGAATTCTCAAGATGGTGC -3'

Sequencing Primer
(F):5'- GCAAATGATCATAAGTCGGTAGATAG -3'
(R):5'- CTCAAGATGGTGCATTAAGTGACTC -3'

Posted On

2015-07-07