Incidental Mutation 'IGL02335:G2e3'
| ID |
289694 |
| 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 |
|
| Essential gene? |
Possibly essential
(E-score: 0.644)
|
| Stock # |
IGL02335
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
51348061-51376986 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 51369158 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 559
(M559K)
|
| 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: M536K
PolyPhen 2
Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000054474
Gene: ENSMUSG00000035293
AA Change: M536K
| 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: M559K
PolyPhen 2
Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000113270
Gene: ENSMUSG00000035293
AA Change: M559K
| 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: M442K
|
| SMART Domains |
Protein: ENSMUSP00000113191
Gene: ENSMUSG00000035293
AA Change: M442K
| 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
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5830411N06Rik |
A |
T |
7: 140,296,540 (GRCm38) |
N526Y |
probably damaging |
Het |
| A4gnt |
C |
T |
9: 99,620,213 (GRCm38) |
T142I |
probably benign |
Het |
| Acaca |
A |
G |
11: 84,214,258 (GRCm38) |
T147A |
possibly damaging |
Het |
| Agbl3 |
A |
G |
6: 34,799,750 (GRCm38) |
D397G |
probably damaging |
Het |
| Ank1 |
C |
T |
8: 23,135,638 (GRCm38) |
T1597M |
possibly damaging |
Het |
| Arl4d |
A |
G |
11: 101,666,929 (GRCm38) |
T94A |
possibly damaging |
Het |
| Cd22 |
A |
G |
7: 30,876,134 (GRCm38) |
I161T |
probably damaging |
Het |
| Clcn7 |
C |
T |
17: 25,146,847 (GRCm38) |
L166F |
probably benign |
Het |
| Cnbd1 |
G |
T |
4: 19,055,095 (GRCm38) |
N110K |
possibly damaging |
Het |
| Col14a1 |
A |
T |
15: 55,463,769 (GRCm38) |
|
probably benign |
Het |
| Col6a6 |
C |
T |
9: 105,784,101 (GRCm38) |
V270M |
probably damaging |
Het |
| Cox8b |
C |
A |
7: 140,899,077 (GRCm38) |
G42W |
probably damaging |
Het |
| Csn1s1 |
A |
T |
5: 87,680,845 (GRCm38) |
D275V |
probably benign |
Het |
| Cubn |
T |
A |
2: 13,427,834 (GRCm38) |
|
probably null |
Het |
| Dctn2 |
T |
C |
10: 127,275,821 (GRCm38) |
|
probably benign |
Het |
| Dnm1l |
A |
G |
16: 16,342,740 (GRCm38) |
|
probably benign |
Het |
| Dpp4 |
T |
C |
2: 62,334,644 (GRCm38) |
E687G |
probably benign |
Het |
| Fbxw20 |
T |
C |
9: 109,223,309 (GRCm38) |
K249E |
possibly damaging |
Het |
| Fhl2 |
C |
T |
1: 43,128,390 (GRCm38) |
W181* |
probably null |
Het |
| Gdap1l1 |
A |
T |
2: 163,447,595 (GRCm38) |
Y160F |
possibly damaging |
Het |
| Gm1110 |
T |
C |
9: 26,881,763 (GRCm38) |
I572M |
probably benign |
Het |
| Gm5538 |
G |
A |
3: 59,743,605 (GRCm38) |
M49I |
probably benign |
Het |
| Gpatch2l |
T |
A |
12: 86,256,937 (GRCm38) |
|
probably benign |
Het |
| Kcnq4 |
A |
G |
4: 120,715,854 (GRCm38) |
L250P |
probably damaging |
Het |
| Lamc2 |
A |
T |
1: 153,166,216 (GRCm38) |
N57K |
probably benign |
Het |
| Lingo1 |
A |
G |
9: 56,620,081 (GRCm38) |
L408P |
probably damaging |
Het |
| Mmrn1 |
A |
T |
6: 60,977,147 (GRCm38) |
N804I |
possibly damaging |
Het |
| Mroh7 |
A |
G |
4: 106,707,782 (GRCm38) |
L545S |
probably damaging |
Het |
| Nup188 |
T |
A |
2: 30,323,636 (GRCm38) |
|
probably null |
Het |
| Olfr1442 |
T |
C |
19: 12,674,238 (GRCm38) |
I11T |
probably damaging |
Het |
| Olfr1494 |
A |
G |
19: 13,749,934 (GRCm38) |
D276G |
probably benign |
Het |
| Olfr96 |
A |
G |
17: 37,225,326 (GRCm38) |
N67S |
probably damaging |
Het |
| Pls1 |
A |
T |
9: 95,784,183 (GRCm38) |
N138K |
probably benign |
Het |
| Prkch |
C |
A |
12: 73,702,512 (GRCm38) |
N345K |
probably benign |
Het |
| Reps1 |
T |
C |
10: 18,056,117 (GRCm38) |
|
probably null |
Het |
| Rrp7a |
T |
C |
15: 83,122,691 (GRCm38) |
E15G |
probably benign |
Het |
| Scn1a |
T |
A |
2: 66,277,661 (GRCm38) |
T1557S |
possibly damaging |
Het |
| Smtn |
T |
C |
11: 3,526,215 (GRCm38) |
E602G |
probably damaging |
Het |
| Syvn1 |
T |
C |
19: 6,050,093 (GRCm38) |
|
probably null |
Het |
| Tbxas1 |
A |
G |
6: 39,023,080 (GRCm38) |
D267G |
probably damaging |
Het |
| Topbp1 |
A |
G |
9: 103,328,523 (GRCm38) |
N787D |
probably damaging |
Het |
| Vmn2r22 |
T |
G |
6: 123,638,092 (GRCm38) |
S180R |
probably damaging |
Het |
| Zfp345 |
T |
A |
2: 150,474,543 (GRCm38) |
E48D |
possibly damaging |
Het |
| Zfp608 |
G |
A |
18: 54,897,437 (GRCm38) |
Q1144* |
probably null |
Het |
| Zfp936 |
T |
A |
7: 43,187,267 (GRCm38) |
L34Q |
probably damaging |
Het |
|
| Other mutations in G2e3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00500:G2e3
|
APN |
12 |
51,353,798 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
IGL00793:G2e3
|
APN |
12 |
51,367,762 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02222:G2e3
|
APN |
12 |
51,363,233 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03134:G2e3
|
APN |
12 |
51,364,030 (GRCm38) |
intron |
probably benign |
|
|
Amadeus
|
UTSW |
12 |
51,353,789 (GRCm38) |
splice site |
probably null |
|
|
theophilus
|
UTSW |
12 |
51,357,145 (GRCm38) |
nonsense |
probably null |
|
|
R1868:G2e3
|
UTSW |
12 |
51,353,629 (GRCm38) |
missense |
probably benign |
0.44 |
|
R2060:G2e3
|
UTSW |
12 |
51,372,606 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3814:G2e3
|
UTSW |
12 |
51,353,661 (GRCm38) |
missense |
probably benign |
0.28 |
|
R4355:G2e3
|
UTSW |
12 |
51,365,337 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4360:G2e3
|
UTSW |
12 |
51,363,414 (GRCm38) |
splice site |
probably benign |
|
|
R4903:G2e3
|
UTSW |
12 |
51,371,630 (GRCm38) |
missense |
probably benign |
0.23 |
|
R4966:G2e3
|
UTSW |
12 |
51,371,630 (GRCm38) |
missense |
probably benign |
0.23 |
|
R4974:G2e3
|
UTSW |
12 |
51,369,139 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5399:G2e3
|
UTSW |
12 |
51,357,194 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5406:G2e3
|
UTSW |
12 |
51,372,666 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R5739:G2e3
|
UTSW |
12 |
51,372,504 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R6225:G2e3
|
UTSW |
12 |
51,369,136 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R6625:G2e3
|
UTSW |
12 |
51,353,789 (GRCm38) |
splice site |
probably null |
|
|
R7458:G2e3
|
UTSW |
12 |
51,365,507 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R7529:G2e3
|
UTSW |
12 |
51,371,604 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7713:G2e3
|
UTSW |
12 |
51,369,056 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7748:G2e3
|
UTSW |
12 |
51,371,667 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7998:G2e3
|
UTSW |
12 |
51,353,841 (GRCm38) |
missense |
probably benign |
0.04 |
|
R8972:G2e3
|
UTSW |
12 |
51,363,494 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R9330:G2e3
|
UTSW |
12 |
51,357,145 (GRCm38) |
nonsense |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation