Incidental Mutation 'IGL00793:G2e3'
| ID |
12626 |
| 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: 0.541)
|
| Stock # |
IGL00793
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
51395013-51423769 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 51414545 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 340
(S340T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113191
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054308]
[ENSMUST00000119211]
[ENSMUST00000121521]
|
| AlphaFold |
Q5RJY2 |
| Predicted Effect |
probably benign
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 benign
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 benign
Transcript: ENSMUST00000121521
AA Change: S340T
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000113191
Gene: ENSMUSG00000035293
AA Change: S340T
| 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
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700102P08Rik |
A |
G |
9: 108,274,605 (GRCm39) |
D236G |
probably damaging |
Het |
| 5031410I06Rik |
T |
C |
5: 26,309,153 (GRCm39) |
R50G |
probably damaging |
Het |
| Adam32 |
A |
T |
8: 25,327,846 (GRCm39) |
|
probably benign |
Het |
| Adm |
A |
G |
7: 110,227,788 (GRCm39) |
Y52C |
probably damaging |
Het |
| Aff4 |
A |
G |
11: 53,302,817 (GRCm39) |
T1097A |
probably damaging |
Het |
| Ccne1 |
A |
C |
7: 37,805,726 (GRCm39) |
V50G |
probably benign |
Het |
| Copb2 |
A |
G |
9: 98,467,057 (GRCm39) |
T636A |
probably benign |
Het |
| Cxadr |
C |
A |
16: 78,131,115 (GRCm39) |
Y210* |
probably null |
Het |
| Dnajc17 |
T |
C |
2: 119,011,441 (GRCm39) |
E163G |
probably benign |
Het |
| Dnmt3b |
T |
A |
2: 153,514,422 (GRCm39) |
M405K |
possibly damaging |
Het |
| Enpp7 |
A |
T |
11: 118,881,371 (GRCm39) |
N172I |
probably damaging |
Het |
| Kat2b |
A |
G |
17: 53,972,852 (GRCm39) |
N722S |
probably benign |
Het |
| Kcnh5 |
C |
A |
12: 75,161,120 (GRCm39) |
V263F |
probably damaging |
Het |
| Ldlrad1 |
A |
G |
4: 107,075,086 (GRCm39) |
D211G |
probably damaging |
Het |
| Lrp1 |
A |
G |
10: 127,378,074 (GRCm39) |
V4082A |
possibly damaging |
Het |
| Maco1 |
A |
G |
4: 134,555,517 (GRCm39) |
S319P |
probably damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,364,189 (GRCm39) |
V4370D |
possibly damaging |
Het |
| Npsr1 |
G |
T |
9: 24,165,989 (GRCm39) |
R125L |
probably damaging |
Het |
| Osbpl9 |
T |
C |
4: 108,944,628 (GRCm39) |
I116V |
probably damaging |
Het |
| Parp4 |
G |
T |
14: 56,840,334 (GRCm39) |
A580S |
possibly damaging |
Het |
| Pfkm |
T |
C |
15: 98,023,475 (GRCm39) |
V391A |
probably benign |
Het |
| Psen1 |
T |
A |
12: 83,769,792 (GRCm39) |
S170T |
probably damaging |
Het |
| Rsbn1l |
C |
T |
5: 21,101,153 (GRCm39) |
V796I |
probably benign |
Het |
| Slc39a8 |
A |
G |
3: 135,590,494 (GRCm39) |
I396V |
probably benign |
Het |
| Spag16 |
T |
C |
1: 70,338,809 (GRCm39) |
C436R |
probably damaging |
Het |
| Stpg1 |
A |
G |
4: 135,233,718 (GRCm39) |
|
probably benign |
Het |
| Tmem86b |
A |
G |
7: 4,631,756 (GRCm39) |
|
probably benign |
Het |
| Trf |
A |
G |
9: 103,103,342 (GRCm39) |
|
probably benign |
Het |
| Trim61 |
A |
T |
8: 65,466,743 (GRCm39) |
Y173N |
possibly damaging |
Het |
| Wrap73 |
T |
C |
4: 154,237,096 (GRCm39) |
S228P |
probably damaging |
Het |
| Zfc3h1 |
T |
C |
10: 115,252,779 (GRCm39) |
V1364A |
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 |
|
|
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 |
2012-12-06 |
Incidental Mutation