Incidental Mutation 'IGL00500:G2e3'
| ID |
5993 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
G2e3
|
| Ensembl Gene |
ENSMUSG00000035293 |
| Gene Name |
G2/M-phase specific E3 ubiquitin ligase |
| Synonyms |
D930034K21Rik, 6030408C04Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.689)
|
| Stock # |
IGL00500
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
51395013-51423769 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
A to G
at 51400581 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113191
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054308]
[ENSMUST00000119211]
[ENSMUST00000121521]
|
| AlphaFold |
Q5RJY2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000054308
|
| SMART Domains |
Protein: ENSMUSP00000054474
Gene: ENSMUSG00000035293
| 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 null
Transcript: ENSMUST00000119211
|
| SMART Domains |
Protein: ENSMUSP00000113270
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
|
383 |
717 |
3.1e-13 |
PFAM |
|
| Predicted Effect |
probably null
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
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm3 |
A |
G |
7: 119,383,567 (GRCm39) |
E576G |
probably damaging |
Het |
| Adnp |
A |
G |
2: 168,025,243 (GRCm39) |
V684A |
possibly damaging |
Het |
| Agl |
A |
G |
3: 116,566,469 (GRCm39) |
W965R |
probably damaging |
Het |
| AI467606 |
G |
A |
7: 126,691,505 (GRCm39) |
V27I |
probably benign |
Het |
| Ankrd34b |
G |
A |
13: 92,575,295 (GRCm39) |
G176R |
probably benign |
Het |
| Atp2a1 |
C |
T |
7: 126,046,388 (GRCm39) |
W72* |
probably null |
Het |
| Atp6v1a |
T |
C |
16: 43,931,946 (GRCm39) |
Q114R |
probably benign |
Het |
| B4galt2 |
A |
T |
4: 117,734,378 (GRCm39) |
L257Q |
probably damaging |
Het |
| Chrna10 |
A |
T |
7: 101,761,615 (GRCm39) |
C325* |
probably null |
Het |
| Clip2 |
A |
G |
5: 134,529,011 (GRCm39) |
|
probably benign |
Het |
| Crocc2 |
C |
T |
1: 93,144,766 (GRCm39) |
Q1437* |
probably null |
Het |
| Csmd1 |
C |
T |
8: 15,971,139 (GRCm39) |
V3059M |
probably damaging |
Het |
| Cst5 |
C |
A |
2: 149,247,501 (GRCm39) |
S72R |
probably damaging |
Het |
| Dapk1 |
A |
G |
13: 60,908,618 (GRCm39) |
D1077G |
probably damaging |
Het |
| Dhx9 |
T |
C |
1: 153,341,494 (GRCm39) |
T585A |
probably damaging |
Het |
| Fam210a |
G |
A |
18: 68,408,854 (GRCm39) |
T152I |
possibly damaging |
Het |
| Fbn1 |
T |
A |
2: 125,159,436 (GRCm39) |
Q2214L |
probably damaging |
Het |
| Fpr1 |
T |
A |
17: 18,097,263 (GRCm39) |
Q242L |
probably benign |
Het |
| Gcdh |
C |
T |
8: 85,615,146 (GRCm39) |
|
probably benign |
Het |
| Gm18856 |
T |
C |
13: 14,140,319 (GRCm39) |
|
probably benign |
Het |
| Itgb2 |
T |
A |
10: 77,400,558 (GRCm39) |
W724R |
probably damaging |
Het |
| Klhl2 |
T |
C |
8: 65,202,120 (GRCm39) |
T519A |
probably benign |
Het |
| Krtap12-1 |
G |
T |
10: 77,556,814 (GRCm39) |
C119F |
possibly damaging |
Het |
| Nrap |
T |
A |
19: 56,361,341 (GRCm39) |
K369N |
probably damaging |
Het |
| Nrg1 |
T |
A |
8: 32,312,342 (GRCm39) |
|
probably null |
Het |
| Plekhh3 |
T |
A |
11: 101,056,519 (GRCm39) |
|
probably null |
Het |
| Ppm1b |
A |
G |
17: 85,310,712 (GRCm39) |
S289G |
probably damaging |
Het |
| Prol1 |
A |
T |
5: 88,476,550 (GRCm39) |
*313C |
probably null |
Het |
| Rab40c |
T |
C |
17: 26,104,059 (GRCm39) |
E111G |
probably damaging |
Het |
| Skint11 |
T |
A |
4: 114,051,906 (GRCm39) |
C85S |
probably benign |
Het |
| Slc9a2 |
G |
A |
1: 40,802,743 (GRCm39) |
E598K |
possibly damaging |
Het |
| Slfn8 |
T |
A |
11: 82,904,310 (GRCm39) |
D360V |
possibly damaging |
Het |
| Sspo |
C |
A |
6: 48,474,355 (GRCm39) |
C4925* |
probably null |
Het |
| Vps8 |
A |
G |
16: 21,261,084 (GRCm39) |
T75A |
possibly damaging |
Het |
| Wfdc12 |
A |
T |
2: 164,032,170 (GRCm39) |
I40N |
probably damaging |
Het |
| Zfp608 |
T |
A |
18: 55,121,405 (GRCm39) |
T61S |
probably benign |
Het |
|
| Other mutations in G2e3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R4355:G2e3
|
UTSW |
12 |
51,412,120 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
|
| Posted On |
2012-04-20 |
Incidental Mutation