Incidental Mutation 'IGL00719:Sesn1'
| ID |
13985 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sesn1
|
| Ensembl Gene |
ENSMUSG00000038332 |
| Gene Name |
sestrin 1 |
| Synonyms |
SEST1, 1110002G11Rik, PA26 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00719
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
41686570-41784432 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 41774321 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 291
(T291I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097515
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041438]
[ENSMUST00000099931]
|
| AlphaFold |
P58006 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041438
AA Change: T232I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000043034
Gene: ENSMUSG00000038332
AA Change: T232I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
16 |
N/A |
INTRINSIC |
|
Pfam:PA26
|
45 |
492 |
5.4e-227 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099931
AA Change: T291I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097515
Gene: ENSMUSG00000038332
AA Change: T291I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PA26
|
106 |
550 |
1.2e-212 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214835
|
| 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. Sestrins are induced by the p53 tumor suppressor protein and play a role in the cellular response to DNA damage and oxidative stress. The encoded protein mediates p53 inhibition of cell growth by activating AMP-activated protein kinase, which results in the inhibition of the mammalian target of rapamycin protein. The encoded protein also plays a critical role in antioxidant defense by regenerating overoxidized peroxiredoxins, and the expression of this gene is a potential marker for exposure to radiation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for a kncok-out allele exhibit enhanced responsiveness to an influenza vaccine in aged mice. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 16 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Allc |
C |
T |
12: 28,614,248 (GRCm39) |
E142K |
probably benign |
Het |
| Cln5 |
C |
T |
14: 103,313,468 (GRCm39) |
T240M |
possibly damaging |
Het |
| Ddx42 |
T |
C |
11: 106,126,575 (GRCm39) |
V330A |
probably damaging |
Het |
| Egr1 |
G |
A |
18: 34,995,547 (GRCm39) |
E110K |
possibly damaging |
Het |
| Fbxw7 |
A |
G |
3: 84,876,616 (GRCm39) |
|
probably benign |
Het |
| Ftsj3 |
T |
C |
11: 106,141,005 (GRCm39) |
D674G |
probably damaging |
Het |
| Mboat2 |
T |
A |
12: 24,989,353 (GRCm39) |
|
probably benign |
Het |
| Mga |
T |
A |
2: 119,777,934 (GRCm39) |
Y1826* |
probably null |
Het |
| Mipol1 |
T |
A |
12: 57,354,139 (GRCm39) |
|
probably benign |
Het |
| Pds5b |
C |
A |
5: 150,646,007 (GRCm39) |
T155N |
probably benign |
Het |
| Plk4 |
A |
T |
3: 40,756,224 (GRCm39) |
D45V |
probably damaging |
Het |
| Rnf24 |
C |
T |
2: 131,147,613 (GRCm39) |
V63I |
possibly damaging |
Het |
| Serpinb6b |
A |
T |
13: 33,155,529 (GRCm39) |
T81S |
probably benign |
Het |
| Tenm3 |
T |
C |
8: 48,732,077 (GRCm39) |
T1276A |
probably benign |
Het |
| Tmbim7 |
T |
A |
5: 3,729,087 (GRCm39) |
I279N |
probably damaging |
Het |
| Zfp40 |
T |
C |
17: 23,394,716 (GRCm39) |
T556A |
probably benign |
Het |
|
| Other mutations in Sesn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01766:Sesn1
|
APN |
10 |
41,774,365 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1103:Sesn1
|
UTSW |
10 |
41,778,589 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1557:Sesn1
|
UTSW |
10 |
41,779,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1587:Sesn1
|
UTSW |
10 |
41,687,108 (GRCm39) |
missense |
probably benign |
|
|
R2177:Sesn1
|
UTSW |
10 |
41,779,778 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R2437:Sesn1
|
UTSW |
10 |
41,781,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3915:Sesn1
|
UTSW |
10 |
41,770,886 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4965:Sesn1
|
UTSW |
10 |
41,771,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5141:Sesn1
|
UTSW |
10 |
41,687,097 (GRCm39) |
missense |
probably benign |
|
|
R5257:Sesn1
|
UTSW |
10 |
41,770,984 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5258:Sesn1
|
UTSW |
10 |
41,770,984 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5639:Sesn1
|
UTSW |
10 |
41,687,267 (GRCm39) |
missense |
probably benign |
|
|
R5899:Sesn1
|
UTSW |
10 |
41,687,189 (GRCm39) |
missense |
probably benign |
|
|
R6024:Sesn1
|
UTSW |
10 |
41,772,196 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6310:Sesn1
|
UTSW |
10 |
41,772,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7181:Sesn1
|
UTSW |
10 |
41,779,724 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7770:Sesn1
|
UTSW |
10 |
41,770,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7909:Sesn1
|
UTSW |
10 |
41,687,112 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7996:Sesn1
|
UTSW |
10 |
41,770,929 (GRCm39) |
nonsense |
probably null |
|
|
R8728:Sesn1
|
UTSW |
10 |
41,779,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9032:Sesn1
|
UTSW |
10 |
41,686,835 (GRCm39) |
unclassified |
probably benign |
|
|
R9085:Sesn1
|
UTSW |
10 |
41,686,835 (GRCm39) |
unclassified |
probably benign |
|
|
| Posted On |
2012-12-06 |
Incidental Mutation