Incidental Mutation 'R3915:Sesn1'
| ID |
309602 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sesn1
|
| Ensembl Gene |
ENSMUSG00000038332 |
| Gene Name |
sestrin 1 |
| Synonyms |
SEST1, 1110002G11Rik, PA26 |
| MMRRC Submission |
040913-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3915 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
41686570-41784432 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 41770886 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 139
(R139H)
|
| 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: R80H
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000043034
Gene: ENSMUSG00000038332
AA Change: R80H
| 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: R139H
PolyPhen 2
Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000097515
Gene: ENSMUSG00000038332
AA Change: R139H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PA26
|
106 |
550 |
1.2e-212 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214835
|
| Meta Mutation Damage Score |
0.0855 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
98% (43/44) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700109H08Rik |
G |
A |
5: 3,627,248 (GRCm39) |
V75I |
possibly damaging |
Het |
| AA986860 |
A |
G |
1: 130,670,344 (GRCm39) |
K189E |
probably benign |
Het |
| Abcf1 |
C |
T |
17: 36,270,402 (GRCm39) |
R596H |
possibly damaging |
Het |
| Abtb3 |
C |
A |
10: 85,468,134 (GRCm39) |
H810N |
probably damaging |
Het |
| Axl |
T |
C |
7: 25,460,169 (GRCm39) |
|
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,886,603 (GRCm39) |
K644E |
probably benign |
Het |
| Btnl7-ps |
T |
A |
17: 34,760,489 (GRCm39) |
|
noncoding transcript |
Het |
| Car8 |
A |
T |
4: 8,184,576 (GRCm39) |
|
probably benign |
Het |
| Ccdc62 |
C |
T |
5: 124,092,778 (GRCm39) |
R588C |
probably damaging |
Het |
| Clasp2 |
T |
G |
9: 113,737,805 (GRCm39) |
S374A |
probably damaging |
Het |
| Ctnnb1 |
A |
G |
9: 120,784,717 (GRCm39) |
H503R |
probably benign |
Het |
| Cwf19l2 |
A |
G |
9: 3,456,776 (GRCm39) |
H703R |
probably damaging |
Het |
| Efcab7 |
A |
T |
4: 99,735,375 (GRCm39) |
Q133L |
probably damaging |
Het |
| Ehmt2 |
T |
C |
17: 35,122,443 (GRCm39) |
S280P |
probably damaging |
Het |
| Eif4a3l1 |
A |
T |
6: 136,306,420 (GRCm39) |
T294S |
probably benign |
Het |
| Eomes |
A |
G |
9: 118,310,341 (GRCm39) |
M351V |
probably benign |
Het |
| Ets2 |
G |
A |
16: 95,520,037 (GRCm39) |
R421H |
probably damaging |
Het |
| Fam222b |
C |
G |
11: 78,045,756 (GRCm39) |
P439R |
probably benign |
Het |
| Gbp11 |
T |
A |
5: 105,478,978 (GRCm39) |
K153N |
probably damaging |
Het |
| Golim4 |
T |
C |
3: 75,810,634 (GRCm39) |
T174A |
probably damaging |
Het |
| Grid1 |
A |
G |
14: 35,242,684 (GRCm39) |
Y679C |
probably damaging |
Het |
| Gvin-ps5 |
A |
G |
7: 105,929,445 (GRCm39) |
S151P |
probably benign |
Het |
| Ikzf3 |
T |
C |
11: 98,381,412 (GRCm39) |
D56G |
probably damaging |
Het |
| Kcnj16 |
A |
G |
11: 110,916,382 (GRCm39) |
D348G |
probably benign |
Het |
| Kidins220 |
T |
C |
12: 25,103,957 (GRCm39) |
L1319P |
possibly damaging |
Het |
| Lrp1b |
T |
A |
2: 41,339,248 (GRCm39) |
D751V |
probably damaging |
Het |
| Macc1 |
T |
C |
12: 119,410,551 (GRCm39) |
C440R |
probably benign |
Het |
| Mbd2 |
T |
C |
18: 70,755,680 (GRCm39) |
V382A |
probably benign |
Het |
| Or13a17 |
T |
A |
7: 140,270,888 (GRCm39) |
D23E |
probably benign |
Het |
| Or51a25 |
C |
T |
7: 102,373,409 (GRCm39) |
R96H |
possibly damaging |
Het |
| Or6c68 |
G |
A |
10: 129,158,178 (GRCm39) |
A229T |
probably benign |
Het |
| Pgs1 |
T |
G |
11: 117,910,472 (GRCm39) |
S528A |
probably benign |
Het |
| Pitpnm3 |
T |
C |
11: 72,003,110 (GRCm39) |
T67A |
probably damaging |
Het |
| Pnliprp2 |
T |
G |
19: 58,748,794 (GRCm39) |
V33G |
probably damaging |
Het |
| Ptn |
T |
C |
6: 36,720,282 (GRCm39) |
N90S |
probably damaging |
Het |
| Ptprt |
A |
T |
2: 161,397,475 (GRCm39) |
|
probably benign |
Het |
| Ranbp17 |
G |
A |
11: 33,429,189 (GRCm39) |
A352V |
probably benign |
Het |
| Rasgrp1 |
G |
A |
2: 117,119,122 (GRCm39) |
S505F |
probably damaging |
Het |
| Slc17a7 |
T |
A |
7: 44,818,144 (GRCm39) |
L23Q |
probably damaging |
Het |
| Slc30a10 |
G |
T |
1: 185,187,333 (GRCm39) |
E25* |
probably null |
Het |
| Smco1 |
A |
G |
16: 32,092,583 (GRCm39) |
I85V |
probably benign |
Het |
| Vmn1r76 |
A |
T |
7: 11,664,496 (GRCm39) |
S239R |
probably benign |
Het |
| Zc3h7a |
A |
T |
16: 10,974,074 (GRCm39) |
V237D |
possibly damaging |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGTTTAAATCACAAGTCCTCTCAGG -3'
(R):5'- TGTCTCTGAAGCATGCGAG -3'
Sequencing Primer
(F):5'- TAGATCGGTGCACCACAT -3'
(R):5'- TCCTATGTCAAAAGCATTAATCCTC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation