Mutagenetix > Incidental Mutations

Incidental Mutation 'R5406:G2e3'

426293

Institutional Source

Beutler Lab

Gene Symbol

G2e3

Ensembl Gene

ENSMUSG00000035293

Gene Name

G2/M-phase specific E3 ubiquitin ligase

Synonyms

6030408C04Rik, D930034K21Rik

MMRRC Submission

042976-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.697) question?

Stock #

R5406 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

51348061-51376986 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 51372666 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 699 (S699P)

Ref Sequence

ENSEMBL: ENSMUSP00000054474 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021335] [ENSMUST00000054308] [ENSMUST00000119211] [ENSMUST00000121521] [ENSMUST00000219434]

Predicted Effect

probably benign
Transcript: ENSMUST00000021335

SMART Domains

Protein: ENSMUSP00000021335
Gene: ENSMUSG00000020952

Domain	Start	End	E-Value	Type
Pfam:Sec1	41	632	1.6e-109	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000054308
AA Change: S699P

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000054474
Gene: ENSMUSG00000035293
AA Change: S699P

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

possibly damaging
Transcript: ENSMUST00000119211
AA Change: S722P

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000113270
Gene: ENSMUSG00000035293
AA Change: S722P

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

unknown
Transcript: ENSMUST00000121521
AA Change: S605P

SMART Domains

Protein: ENSMUSP00000113191
Gene: ENSMUSG00000035293
AA Change: S605P

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: ENSMUST00000152236

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218131

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219264

Predicted Effect

probably benign
Transcript: ENSMUST00000219434

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219799

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdhppt	A	T	9: 4,309,387	V17D	probably damaging	Het
Abcb1a	C	A	5: 8,702,946	Q566K	probably damaging	Het
Adam26a	A	T	8: 43,569,104	C450S	probably damaging	Het
Adar	C	T	3: 89,736,111	P433L	probably damaging	Het
Aldh1a2	G	T	9: 71,255,121	A151S	possibly damaging	Het
Arsk	T	A	13: 76,093,947	H69L	probably benign	Het
Atf6b	T	A	17: 34,653,797	Y600*	probably null	Het
Blk	C	A	14: 63,380,731	G242V	probably damaging	Het
Bmt2	A	T	6: 13,677,832	M1K	probably null	Het
Catsperg1	G	A	7: 29,185,523	T891M	probably damaging	Het
Ccdc32	A	C	2: 119,022,079	S131A	possibly damaging	Het
Cdh8	A	G	8: 99,196,370	V298A	probably damaging	Het
Cfap54	T	A	10: 93,001,858	Q1060L	probably benign	Het
Cfap58	G	A	19: 48,029,102	M800I	possibly damaging	Het
Cntn5	A	T	9: 9,833,460	V362D	probably damaging	Het
Fkbpl	G	A	17: 34,645,329	A24T	probably benign	Het
Gbp4	G	T	5: 105,119,521	Q511K	possibly damaging	Het
Gdap2	T	A	3: 100,191,675	I361N	probably damaging	Het
Ino80c	T	A	18: 24,112,762	H92L	probably benign	Het
Lipo4	A	G	19: 33,503,218	V250A	probably benign	Het
Llgl1	C	T	11: 60,713,184	R1055W	probably damaging	Het
Lrriq3	T	C	3: 155,129,501		probably null	Het
Mmp1a	A	G	9: 7,467,293	E290G	probably damaging	Het
Ncstn	A	G	1: 172,072,164	V317A	probably benign	Het
Nfxl1	G	A	5: 72,556,198	T134I	possibly damaging	Het
Nup155	A	T	15: 8,153,638		probably null	Het
Nup214	C	A	2: 32,002,607	P680T	probably damaging	Het
Olfr805	G	A	10: 129,722,930	L205F	probably damaging	Het
Olfr871	A	G	9: 20,213,158	K270E	probably benign	Het
Olfr874	A	G	9: 37,746,647	N171S	probably benign	Het
Olfr877	G	A	9: 37,855,219	V134I	probably benign	Het
Pkd2	T	C	5: 104,480,332	F424S	probably damaging	Het
Plb1	A	G	5: 32,341,915	D1074G	probably damaging	Het
Ppm1l	T	C	3: 69,317,594	S10P	possibly damaging	Het
Rnf213	A	G	11: 119,440,808	H2281R	probably damaging	Het
Rpa2	G	T	4: 132,776,248	A3S	probably benign	Het
Sardh	A	G	2: 27,211,084	V698A	possibly damaging	Het
Saxo2	A	T	7: 82,635,378	C91S	probably benign	Het
Slc3a2	T	C	19: 8,708,042	D198G	probably damaging	Het
Spata31d1d	T	A	13: 59,728,778	E314D	probably benign	Het
Sptlc3	T	C	2: 139,546,478	V130A	probably benign	Het
Stpg3	C	A	2: 25,213,568	E115*	probably null	Het
Tbcd	T	A	11: 121,452,101	D19E	probably benign	Het
Xrcc3	T	C	12: 111,812,111	D2G	probably damaging	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
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
R4355:G2e3	UTSW	12	51365337	missense	probably benign	0.00
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
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

Predicted Primers

PCR Primer
(F):5'- CTGCAACAACGATGGAAGATATTC -3'
(R):5'- AGTGGTTCGGAAGCCAAACC -3'

Sequencing Primer
(F):5'- GTAGTTCTGTCCCACCAACTGG -3'
(R):5'- GGAAGCCAAACCATCCCTTTATGAG -3'

Posted On

2016-09-01