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

D930034K21Rik, 6030408C04Rik

MMRRC Submission

041108-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.689) question?

Stock #

R4355 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

51395013-51423769 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 51412120 bp (GRCm39)

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: 44,023,222 (GRCm39)	Q89H	probably benign	Het
Adgrb1	T	C	15: 74,415,511 (GRCm39)	F697S	probably damaging	Het
Adgrl2	A	T	3: 148,544,788 (GRCm39)	V769E	probably damaging	Het
Aldh7a1	A	T	18: 56,681,566 (GRCm39)	F173L	probably null	Het
Bcl3	G	T	7: 19,545,505 (GRCm39)	C208*	probably null	Het
Bmal1	A	G	7: 112,902,613 (GRCm39)	I421V	possibly damaging	Het
Casz1	T	C	4: 149,036,792 (GRCm39)	S1685P	unknown	Het
Cep250	A	G	2: 155,833,445 (GRCm39)	E1789G	probably damaging	Het
Cep76	A	T	18: 67,759,710 (GRCm39)	D334E	probably benign	Het
Clca3b	A	T	3: 144,531,219 (GRCm39)		probably null	Het
Col9a3	A	G	2: 180,248,271 (GRCm39)	S208G	probably benign	Het
Ddx47	T	C	6: 134,998,468 (GRCm39)	V388A	probably benign	Het
Dync1h1	C	T	12: 110,599,333 (GRCm39)	A1896V	possibly damaging	Het
Eif2ak2	T	A	17: 79,165,963 (GRCm39)	R411S	probably benign	Het
F7	A	G	8: 13,084,774 (GRCm39)	T267A	probably benign	Het
Fras1	C	A	5: 96,848,101 (GRCm39)	D1770E	probably benign	Het
Hspg2	C	T	4: 137,256,729 (GRCm39)	L1491F	probably damaging	Het
Ighv3-4	T	C	12: 114,217,260 (GRCm39)	I110M	probably benign	Het
Itgb5	T	A	16: 33,665,367 (GRCm39)	C28S	probably damaging	Het
Itprid2	A	G	2: 79,472,342 (GRCm39)	N132S	probably benign	Het
Kbtbd11	C	A	8: 15,078,578 (GRCm39)	N392K	probably damaging	Het
Kcnmb4	A	G	10: 116,309,189 (GRCm39)	S80P	possibly damaging	Het
Kif21a	C	T	15: 90,855,036 (GRCm39)	C721Y	probably benign	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Klrc3	T	C	6: 129,616,125 (GRCm39)	M189V	probably benign	Het
Macf1	T	A	4: 123,368,884 (GRCm39)	E394V	possibly damaging	Het
Mrgprb4	C	T	7: 47,848,449 (GRCm39)	G160R	possibly damaging	Het
Myb	A	G	10: 21,028,516 (GRCm39)	S116P	probably damaging	Het
Nf2	G	A	11: 4,730,613 (GRCm39)	Q513*	probably null	Het
Nmnat3	C	T	9: 98,292,205 (GRCm39)	T150M	possibly damaging	Het
Obi1	A	G	14: 104,716,693 (GRCm39)	V560A	probably benign	Het
Or11g27	T	C	14: 50,771,216 (GRCm39)	C116R	possibly damaging	Het
Or12k8	C	A	2: 36,974,942 (GRCm39)	V273F	probably benign	Het
Patj	T	G	4: 98,538,691 (GRCm39)	C210W	possibly damaging	Het
Pde3b	A	G	7: 114,015,522 (GRCm39)	H246R	probably benign	Het
Pnp2	A	G	14: 51,197,082 (GRCm39)	H56R	probably benign	Het
Prkg1	A	G	19: 30,546,629 (GRCm39)		probably benign	Het
Rhbdf1	C	T	11: 32,166,236 (GRCm39)	S8N	probably damaging	Het
Rimbp3	A	G	16: 17,027,556 (GRCm39)	K327E	possibly damaging	Het
Rsph6a	T	A	7: 18,801,003 (GRCm39)		probably null	Het
Ryr2	T	C	13: 11,664,698 (GRCm39)	N3535S	probably benign	Het
Ston1	T	G	17: 88,944,436 (GRCm39)	V614G	probably damaging	Het
Svep1	T	A	4: 58,138,695 (GRCm39)	T466S	possibly damaging	Het
Tas2r109	A	T	6: 132,957,144 (GRCm39)	I262N	probably benign	Het
Tmtc1	T	C	6: 148,256,596 (GRCm39)		probably benign	Het
Tshz2	G	A	2: 169,726,858 (GRCm39)	E16K	possibly damaging	Het
Ufsp2	T	A	8: 46,438,502 (GRCm39)	S193R	possibly damaging	Het
Ugt2b5	C	A	5: 87,287,622 (GRCm39)	E182*	probably null	Het
Usp43	A	G	11: 67,782,290 (GRCm39)	V376A	probably benign	Het
Utp15	A	T	13: 98,395,755 (GRCm39)	F76I	possibly damaging	Het
Wdr62	A	C	7: 29,941,673 (GRCm39)	L1141R	probably damaging	Het
Zfp418	T	A	7: 7,175,161 (GRCm39)	M18K	probably benign	Het

Other mutations in G2e3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00500:G2e3	APN	12	51,400,581 (GRCm39)	critical splice acceptor site	probably null
IGL00793:G2e3	APN	12	51,414,545 (GRCm39)	missense	probably benign	0.00
IGL02222:G2e3	APN	12	51,410,016 (GRCm39)	missense	probably damaging	1.00
IGL02335:G2e3	APN	12	51,415,941 (GRCm39)	missense	probably benign	0.19
IGL03134:G2e3	APN	12	51,410,813 (GRCm39)	intron	probably benign
Amadeus	UTSW	12	51,400,572 (GRCm39)	splice site	probably null
theophilus	UTSW	12	51,403,928 (GRCm39)	nonsense	probably null
R1868:G2e3	UTSW	12	51,400,412 (GRCm39)	missense	probably benign	0.44
R2060:G2e3	UTSW	12	51,419,389 (GRCm39)	missense	probably damaging	1.00
R3814:G2e3	UTSW	12	51,400,444 (GRCm39)	missense	probably benign	0.28
R4360:G2e3	UTSW	12	51,410,197 (GRCm39)	splice site	probably benign
R4903:G2e3	UTSW	12	51,418,413 (GRCm39)	missense	probably benign	0.23
R4966:G2e3	UTSW	12	51,418,413 (GRCm39)	missense	probably benign	0.23
R4974:G2e3	UTSW	12	51,415,922 (GRCm39)	missense	probably benign	0.00
R5399:G2e3	UTSW	12	51,403,977 (GRCm39)	critical splice donor site	probably null
R5406:G2e3	UTSW	12	51,419,449 (GRCm39)	missense	probably damaging	0.97
R5739:G2e3	UTSW	12	51,419,287 (GRCm39)	missense	possibly damaging	0.94
R6225:G2e3	UTSW	12	51,415,919 (GRCm39)	missense	possibly damaging	0.77
R6625:G2e3	UTSW	12	51,400,572 (GRCm39)	splice site	probably null
R7458:G2e3	UTSW	12	51,412,290 (GRCm39)	missense	possibly damaging	0.67
R7529:G2e3	UTSW	12	51,418,387 (GRCm39)	missense	probably damaging	1.00
R7713:G2e3	UTSW	12	51,415,839 (GRCm39)	missense	probably damaging	0.99
R7748:G2e3	UTSW	12	51,418,450 (GRCm39)	missense	probably benign	0.00
R7998:G2e3	UTSW	12	51,400,624 (GRCm39)	missense	probably benign	0.04
R8972:G2e3	UTSW	12	51,410,277 (GRCm39)	missense	possibly damaging	0.90
R9330:G2e3	UTSW	12	51,403,928 (GRCm39)	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