Incidental Mutation 'IGL02882:Sesn2'
ID |
362840 |
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 # |
IGL02882
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
132220115-132237767 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 132221104 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 456
(N456D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030724
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030724]
|
AlphaFold |
P58043 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030724
AA Change: N456D
PolyPhen 2
Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000030724 Gene: ENSMUSG00000028893 AA Change: N456D
Domain | Start | End | E-Value | Type |
Pfam:PA26
|
43 |
479 |
3.5e-199 |
PFAM |
|
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg4 |
A |
T |
9: 44,188,786 (GRCm39) |
L469* |
probably null |
Het |
Calr3 |
T |
A |
8: 73,188,665 (GRCm39) |
Y46F |
probably damaging |
Het |
Clcn4 |
A |
G |
7: 7,293,464 (GRCm39) |
C491R |
probably damaging |
Het |
Col6a5 |
G |
T |
9: 105,811,520 (GRCm39) |
D666E |
unknown |
Het |
D130052B06Rik |
G |
A |
11: 33,573,780 (GRCm39) |
V126M |
probably damaging |
Het |
Ddx27 |
A |
G |
2: 166,869,833 (GRCm39) |
I389M |
possibly damaging |
Het |
Dgka |
T |
C |
10: 128,569,253 (GRCm39) |
I160V |
possibly damaging |
Het |
Enpp6 |
T |
C |
8: 47,483,567 (GRCm39) |
S120P |
probably damaging |
Het |
Ezh1 |
A |
G |
11: 101,094,115 (GRCm39) |
I459T |
probably benign |
Het |
Fam91a1 |
A |
G |
15: 58,324,910 (GRCm39) |
|
probably benign |
Het |
Foxn2 |
T |
C |
17: 88,770,375 (GRCm39) |
L74P |
probably damaging |
Het |
Fscn2 |
T |
C |
11: 120,253,325 (GRCm39) |
V264A |
probably benign |
Het |
Gmeb2 |
G |
A |
2: 180,907,676 (GRCm39) |
T54I |
probably damaging |
Het |
Hmcn2 |
A |
T |
2: 31,303,379 (GRCm39) |
K3007* |
probably null |
Het |
Ice1 |
A |
T |
13: 70,772,593 (GRCm39) |
|
probably benign |
Het |
Lgi1 |
A |
G |
19: 38,272,453 (GRCm39) |
D84G |
probably benign |
Het |
Mier2 |
T |
C |
10: 79,383,555 (GRCm39) |
I196V |
probably damaging |
Het |
Nipal2 |
T |
C |
15: 34,600,223 (GRCm39) |
Y198C |
probably damaging |
Het |
Npas2 |
A |
C |
1: 39,352,077 (GRCm39) |
S176R |
probably benign |
Het |
Or8b50 |
A |
T |
9: 38,518,234 (GRCm39) |
I158F |
probably benign |
Het |
Pam |
A |
C |
1: 97,768,092 (GRCm39) |
C713G |
probably damaging |
Het |
Pcdh17 |
C |
A |
14: 84,684,101 (GRCm39) |
D189E |
probably damaging |
Het |
Pcdhb8 |
T |
A |
18: 37,489,276 (GRCm39) |
I318N |
possibly damaging |
Het |
Pcyt2 |
A |
G |
11: 120,502,233 (GRCm39) |
S300P |
possibly damaging |
Het |
Pkdrej |
A |
G |
15: 85,701,497 (GRCm39) |
S1480P |
probably damaging |
Het |
Plekhd1 |
G |
A |
12: 80,765,781 (GRCm39) |
|
probably null |
Het |
Plxna2 |
A |
T |
1: 194,444,878 (GRCm39) |
S757C |
probably damaging |
Het |
Prkdc |
A |
T |
16: 15,469,383 (GRCm39) |
K163* |
probably null |
Het |
Serpina3f |
A |
T |
12: 104,183,263 (GRCm39) |
T42S |
probably damaging |
Het |
Tas2r105 |
A |
T |
6: 131,664,143 (GRCm39) |
L95Q |
possibly damaging |
Het |
Tln1 |
A |
G |
4: 43,539,522 (GRCm39) |
V1600A |
probably benign |
Het |
Zfp764l1 |
A |
G |
7: 126,991,424 (GRCm39) |
Y188H |
probably damaging |
Het |
Zfp808 |
A |
G |
13: 62,320,994 (GRCm39) |
K741R |
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 |
|
IGL01336:Sesn2
|
APN |
4 |
132,226,678 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
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 |
2015-12-18 |