Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02222:G2e3'

285194

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

G2e3

Ensembl Gene

ENSMUSG00000035293

Gene Name

G2/M-phase specific E3 ubiquitin ligase

Synonyms

6030408C04Rik, D930034K21Rik

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.704) question?

Stock #

IGL02222

Quality Score

Status

Chromosome

Chromosomal Location

51348061-51376986 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 51363233 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 267 (H267R)

Ref Sequence

ENSEMBL: ENSMUSP00000113191 (fasta)

Gene Model

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

AlphaFold

Q5RJY2

Predicted Effect

probably damaging
Transcript: ENSMUST00000054308
AA Change: H267R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000054474
Gene: ENSMUSG00000035293
AA Change: H267R

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 damaging
Transcript: ENSMUST00000119211
AA Change: H267R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113270
Gene: ENSMUSG00000035293
AA Change: H267R

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 damaging
Transcript: ENSMUST00000121521
AA Change: H267R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113191
Gene: ENSMUSG00000035293
AA Change: H267R

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

Coding Region Coverage

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	A	1: 71,282,886	R1682W	probably benign	Het
Angptl6	A	T	9: 20,873,907	M450K	probably damaging	Het
Armc12	C	A	17: 28,538,720	N275K	probably damaging	Het
Cd27	T	C	6: 125,234,532	H144R	probably damaging	Het
Cenpf	T	C	1: 189,654,444	K1880E	probably benign	Het
Dchs1	A	T	7: 105,764,887	I907N	probably damaging	Het
Dpy19l4	A	C	4: 11,281,116	F443C	possibly damaging	Het
Eif3i	C	T	4: 129,592,088	D315N	possibly damaging	Het
Fam217a	A	G	13: 34,911,119	L128P	probably damaging	Het
Fam46b	T	C	4: 133,486,553	V245A	probably damaging	Het
Fetub	C	T	16: 22,932,328	L62F	probably damaging	Het
Fmn1	A	T	2: 113,593,109	I1047F	probably damaging	Het
Gigyf2	A	G	1: 87,410,863		probably null	Het
Gm10650	T	C	3: 128,040,140		noncoding transcript	Het
Grip1	C	T	10: 119,999,809	T470I	probably damaging	Het
Hmcn1	T	G	1: 150,806,401	D466A	probably benign	Het
Lrrc63	T	C	14: 75,086,140	Y548C	probably damaging	Het
Naaa	T	C	5: 92,259,550		probably benign	Het
Parpbp	T	A	10: 88,140,085	E55D	possibly damaging	Het
Pnpt1	G	A	11: 29,130,842	A29T	probably benign	Het
Pnpt1	A	T	11: 29,159,327	D691V	possibly damaging	Het
Pramef6	A	G	4: 143,895,846	M313T	possibly damaging	Het
Psg25	T	C	7: 18,529,727	N57S	probably damaging	Het
Selenbp2	T	A	3: 94,699,962	V168E	probably damaging	Het
Syne2	G	A	12: 75,952,843	E2337K	probably damaging	Het
Synj2	A	G	17: 6,037,480	T1269A	probably benign	Het
Tnfrsf13c	C	A	15: 82,223,163	V144L	probably damaging	Het
Uspl1	G	T	5: 149,194,044	V132L	probably benign	Het
Vmn2r58	T	A	7: 41,864,025	Y398F	possibly damaging	Het
Vps13a	T	A	19: 16,682,175	T1663S	probably benign	Het
Ythdc1	G	A	5: 86,828,043	R503H	possibly 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
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
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

Posted On

2015-04-16