Incidental Mutation 'IGL01766:Sesn1'
| ID |
153654 |
| 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 # |
IGL01766
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
41686570-41784432 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 41774365 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 306
(T306A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097515
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041438]
[ENSMUST00000099931]
|
| AlphaFold |
P58006 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041438
AA Change: T247A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000043034
Gene: ENSMUSG00000038332
AA Change: T247A
| 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 benign
Transcript: ENSMUST00000099931
AA Change: T306A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000097515
Gene: ENSMUSG00000038332
AA Change: T306A
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330159F19Rik |
A |
G |
10: 29,100,557 (GRCm39) |
D310G |
probably benign |
Het |
| Ahnak |
A |
G |
19: 8,977,482 (GRCm39) |
T7A |
unknown |
Het |
| Arhgap21 |
T |
A |
2: 20,854,448 (GRCm39) |
D1648V |
possibly damaging |
Het |
| Cd274 |
T |
C |
19: 29,362,810 (GRCm39) |
*291Q |
probably null |
Het |
| Ceacam1 |
G |
A |
7: 25,171,420 (GRCm39) |
S348L |
probably damaging |
Het |
| Dcaf13 |
T |
C |
15: 38,982,145 (GRCm39) |
V37A |
probably benign |
Het |
| Degs1 |
A |
T |
1: 182,106,660 (GRCm39) |
F200I |
probably damaging |
Het |
| Dock4 |
G |
T |
12: 40,496,378 (GRCm39) |
E8* |
probably null |
Het |
| Dsc2 |
G |
A |
18: 20,179,399 (GRCm39) |
P223L |
possibly damaging |
Het |
| Exo1 |
A |
G |
1: 175,719,587 (GRCm39) |
T171A |
possibly damaging |
Het |
| Gen1 |
C |
T |
12: 11,306,895 (GRCm39) |
D92N |
probably damaging |
Het |
| Gm572 |
A |
T |
4: 148,739,352 (GRCm39) |
H60L |
possibly damaging |
Het |
| Gucy2c |
T |
C |
6: 136,692,971 (GRCm39) |
T719A |
probably benign |
Het |
| Heatr5a |
T |
C |
12: 51,936,447 (GRCm39) |
S1575G |
probably benign |
Het |
| Hspa12a |
T |
C |
19: 58,787,899 (GRCm39) |
E641G |
probably damaging |
Het |
| Itgb4 |
G |
A |
11: 115,879,752 (GRCm39) |
V635I |
probably damaging |
Het |
| Luzp1 |
T |
C |
4: 136,270,084 (GRCm39) |
I769T |
possibly damaging |
Het |
| Map2k5 |
C |
T |
9: 63,284,509 (GRCm39) |
A11T |
probably benign |
Het |
| Myo9b |
A |
G |
8: 71,743,161 (GRCm39) |
E74G |
probably damaging |
Het |
| Myom1 |
T |
C |
17: 71,384,283 (GRCm39) |
V666A |
probably damaging |
Het |
| Or1e29 |
T |
A |
11: 73,667,901 (GRCm39) |
N84I |
probably benign |
Het |
| Or2n1 |
G |
T |
17: 38,486,577 (GRCm39) |
V201L |
probably benign |
Het |
| Or5ak4 |
A |
G |
2: 85,161,945 (GRCm39) |
L99S |
probably benign |
Het |
| Or6c69 |
A |
G |
10: 129,747,649 (GRCm39) |
F166S |
probably damaging |
Het |
| Plekhg1 |
A |
G |
10: 3,823,400 (GRCm39) |
T123A |
probably damaging |
Het |
| Polrmt |
T |
C |
10: 79,572,402 (GRCm39) |
E1077G |
possibly damaging |
Het |
| Ptprh |
A |
G |
7: 4,583,915 (GRCm39) |
W226R |
probably benign |
Het |
| Robo1 |
A |
G |
16: 72,801,553 (GRCm39) |
H1059R |
probably benign |
Het |
| Sox14 |
T |
A |
9: 99,757,169 (GRCm39) |
H190L |
probably damaging |
Het |
| Spag8 |
G |
T |
4: 43,653,209 (GRCm39) |
|
probably benign |
Het |
| Tomm40 |
T |
C |
7: 19,437,007 (GRCm39) |
H20R |
possibly damaging |
Het |
| Znhit3 |
G |
T |
11: 84,806,959 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Sesn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00719:Sesn1
|
APN |
10 |
41,774,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2014-02-04 |
Incidental Mutation