Incidental Mutation 'IGL01336:Sesn2'
| ID |
74627 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sesn2
|
| Ensembl Gene |
ENSMUSG00000028893 |
| Gene Name |
sestrin 2 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.398)
|
| Stock # |
IGL01336
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
132220115-132237767 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 132226678 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 139
(T139A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030724
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030724]
|
| AlphaFold |
P58043 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030724
AA Change: T139A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000030724
Gene: ENSMUSG00000028893
AA Change: T139A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PA26
|
43 |
479 |
3.5e-199 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131733
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the sestrin family of PA26-related proteins. The encoded protein may function in the regulation of cell growth and survival. This protein may be involved in cellular response to different stress conditions. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mouse lung fibroblasts homozgyous for a gene trap allele exhibit increased cellular sensitivity to hydrogen peroxide, decreased proliferation, and increased apoptosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acly |
G |
T |
11: 100,386,736 (GRCm39) |
L599I |
probably benign |
Het |
| Adcyap1 |
A |
G |
17: 93,511,392 (GRCm39) |
D122G |
probably benign |
Het |
| Ahr |
A |
G |
12: 35,553,839 (GRCm39) |
V760A |
probably benign |
Het |
| Ankrd7 |
T |
C |
6: 18,868,277 (GRCm39) |
V133A |
probably benign |
Het |
| Bsn |
A |
G |
9: 107,988,984 (GRCm39) |
V2256A |
probably damaging |
Het |
| Cblb |
A |
G |
16: 52,006,592 (GRCm39) |
K765E |
probably benign |
Het |
| Clmp |
A |
G |
9: 40,693,906 (GRCm39) |
*374W |
probably null |
Het |
| Ddc |
A |
G |
11: 11,796,630 (GRCm39) |
|
probably null |
Het |
| Dnah10 |
A |
G |
5: 124,852,576 (GRCm39) |
Y1878C |
probably damaging |
Het |
| Ei24 |
A |
G |
9: 36,697,777 (GRCm39) |
|
probably null |
Het |
| Ikbke |
A |
G |
1: 131,201,493 (GRCm39) |
M118T |
probably damaging |
Het |
| Il6st |
T |
C |
13: 112,616,773 (GRCm39) |
S107P |
possibly damaging |
Het |
| Map2k6 |
A |
G |
11: 110,387,237 (GRCm39) |
Y203C |
probably damaging |
Het |
| Mettl27 |
C |
T |
5: 134,964,734 (GRCm39) |
|
probably benign |
Het |
| Mrps14 |
G |
A |
1: 160,024,565 (GRCm39) |
W32* |
probably null |
Het |
| Naaa |
A |
C |
5: 92,412,992 (GRCm39) |
M208R |
probably benign |
Het |
| Nat2 |
A |
G |
8: 67,954,193 (GRCm39) |
Y101C |
probably damaging |
Het |
| Ncoa3 |
A |
G |
2: 165,896,443 (GRCm39) |
S449G |
probably benign |
Het |
| Or4e5 |
A |
G |
14: 52,728,205 (GRCm39) |
I72T |
probably damaging |
Het |
| Or6z7 |
T |
C |
7: 6,483,997 (GRCm39) |
I53V |
probably benign |
Het |
| Phykpl |
G |
A |
11: 51,490,283 (GRCm39) |
|
probably benign |
Het |
| Psma5-ps |
T |
C |
10: 85,150,028 (GRCm39) |
|
noncoding transcript |
Het |
| Rasgrf1 |
A |
T |
9: 89,873,583 (GRCm39) |
M631L |
probably benign |
Het |
| Rgma |
G |
A |
7: 73,059,066 (GRCm39) |
V57M |
possibly damaging |
Het |
| Samd4b |
G |
T |
7: 28,113,388 (GRCm39) |
D192E |
probably benign |
Het |
| Slc30a6 |
A |
G |
17: 74,715,834 (GRCm39) |
|
probably benign |
Het |
| Spata31f1e |
T |
A |
4: 42,793,784 (GRCm39) |
Q116L |
possibly damaging |
Het |
| Stra8 |
T |
C |
6: 34,910,123 (GRCm39) |
Y182H |
possibly damaging |
Het |
| Trim31 |
C |
A |
17: 37,220,269 (GRCm39) |
A395E |
probably damaging |
Het |
| Trp53bp2 |
G |
T |
1: 182,259,148 (GRCm39) |
R67L |
probably damaging |
Het |
| Trpa1 |
A |
C |
1: 14,957,104 (GRCm39) |
|
probably benign |
Het |
| Wdr91 |
G |
A |
6: 34,886,478 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Sesn2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00468:Sesn2
|
APN |
4 |
132,227,124 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01319:Sesn2
|
APN |
4 |
132,227,278 (GRCm39) |
splice site |
probably benign |
|
|
IGL01800:Sesn2
|
APN |
4 |
132,226,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02161:Sesn2
|
APN |
4 |
132,224,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02882:Sesn2
|
APN |
4 |
132,221,104 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1845:Sesn2
|
UTSW |
4 |
132,224,381 (GRCm39) |
nonsense |
probably null |
|
|
R4732:Sesn2
|
UTSW |
4 |
132,221,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4733:Sesn2
|
UTSW |
4 |
132,221,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5097:Sesn2
|
UTSW |
4 |
132,224,209 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5261:Sesn2
|
UTSW |
4 |
132,226,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5385:Sesn2
|
UTSW |
4 |
132,226,575 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6011:Sesn2
|
UTSW |
4 |
132,226,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6224:Sesn2
|
UTSW |
4 |
132,229,881 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6852:Sesn2
|
UTSW |
4 |
132,221,113 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7224:Sesn2
|
UTSW |
4 |
132,224,724 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7546:Sesn2
|
UTSW |
4 |
132,227,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7682:Sesn2
|
UTSW |
4 |
132,224,200 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8213:Sesn2
|
UTSW |
4 |
132,225,364 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R9041:Sesn2
|
UTSW |
4 |
132,225,272 (GRCm39) |
missense |
probably benign |
0.44 |
|
R9072:Sesn2
|
UTSW |
4 |
132,224,195 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9073:Sesn2
|
UTSW |
4 |
132,224,195 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1176:Sesn2
|
UTSW |
4 |
132,226,623 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2013-10-07 |
Incidental Mutation