Incidental Mutation 'R6741:Sesn3'
| ID |
530456 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sesn3
|
| Ensembl Gene |
ENSMUSG00000032009 |
| Gene Name |
sestrin 3 |
| Synonyms |
5630400E15Rik, SEST3 |
| MMRRC Submission |
044858-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6741 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
14187597-14237430 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 14231636 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 189
(I189T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146784
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034507]
[ENSMUST00000208222]
[ENSMUST00000209187]
|
| AlphaFold |
Q9CYP7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034507
AA Change: I250T
PolyPhen 2
Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000034507
Gene: ENSMUSG00000032009
AA Change: I250T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
12 |
N/A |
INTRINSIC |
|
Pfam:PA26
|
39 |
491 |
8.4e-204 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207207
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208142
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000208222
AA Change: I328T
PolyPhen 2
Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209106
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209145
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000209187
AA Change: I189T
PolyPhen 2
Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
| Validation Efficiency |
97% (34/35) |
| 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 stress-induced proteins. The encoded protein reduces the levels of intracellular reactive oxygen species induced by activated Ras downstream of RAC-alpha serine/threonine-protein kinase (Akt) and FoxO transcription factor. The protein is required for normal regulation of blood glucose, insulin resistance and plays a role in lipid storage in obesity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012]
PHENOTYPE: When fed a high fat diet, mice homozygous for a gene trap allele exhibit impaired glucose tolerance, insulin resistance, reduced hepatic glucose production, impaired adipocyte glucose uptake, increased hepatic steatosis, and decreased mitochondria in the liver. [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 |
|---|
| Actrt3 |
A |
C |
3: 30,652,663 (GRCm39) |
F144V |
possibly damaging |
Het |
| Arhgef12 |
A |
G |
9: 42,883,503 (GRCm39) |
I1342T |
probably benign |
Het |
| Dbn1 |
A |
G |
13: 55,629,350 (GRCm39) |
|
probably null |
Het |
| Defb12 |
T |
C |
8: 19,164,757 (GRCm39) |
E27G |
probably benign |
Het |
| Dennd2b |
A |
G |
7: 109,144,304 (GRCm39) |
Y534H |
possibly damaging |
Het |
| Dthd1 |
A |
T |
5: 63,000,289 (GRCm39) |
H537L |
probably damaging |
Het |
| Ep400 |
A |
T |
5: 110,824,761 (GRCm39) |
S2359T |
unknown |
Het |
| Epha5 |
T |
C |
5: 84,254,557 (GRCm39) |
I572V |
possibly damaging |
Het |
| Grb10 |
C |
A |
11: 11,886,717 (GRCm39) |
|
probably null |
Het |
| Hectd2 |
T |
C |
19: 36,589,759 (GRCm39) |
I628T |
probably damaging |
Het |
| Il17rb |
T |
A |
14: 29,722,293 (GRCm39) |
Q246L |
possibly damaging |
Het |
| Knop1 |
C |
T |
7: 118,445,061 (GRCm39) |
R301Q |
possibly damaging |
Het |
| Lrp1b |
T |
C |
2: 41,136,001 (GRCm39) |
I1770M |
possibly damaging |
Het |
| Mgst1 |
A |
C |
6: 138,127,836 (GRCm39) |
D66A |
probably damaging |
Het |
| Nags |
A |
G |
11: 102,037,718 (GRCm39) |
D237G |
possibly damaging |
Het |
| Nfatc2ip |
T |
A |
7: 125,995,182 (GRCm39) |
Q122L |
possibly damaging |
Het |
| Nod2 |
T |
C |
8: 89,379,694 (GRCm39) |
V72A |
probably damaging |
Het |
| Notch3 |
G |
T |
17: 32,362,458 (GRCm39) |
P1389Q |
probably benign |
Het |
| Or5ac25 |
A |
G |
16: 59,181,918 (GRCm39) |
L221P |
probably damaging |
Het |
| Plekhn1 |
A |
T |
4: 156,306,249 (GRCm39) |
I607N |
probably damaging |
Het |
| Plekho2 |
C |
A |
9: 65,471,197 (GRCm39) |
R84L |
probably damaging |
Het |
| Prag1 |
A |
T |
8: 36,614,434 (GRCm39) |
M1329L |
probably benign |
Het |
| Prpsap2 |
C |
T |
11: 61,631,771 (GRCm39) |
|
probably null |
Het |
| Ptprf |
A |
G |
4: 118,080,565 (GRCm39) |
S1230P |
probably benign |
Het |
| Rigi |
A |
G |
4: 40,211,624 (GRCm39) |
I648T |
probably damaging |
Het |
| Rptor |
T |
G |
11: 119,786,803 (GRCm39) |
L1256R |
possibly damaging |
Het |
| Skic2 |
G |
A |
17: 35,064,166 (GRCm39) |
R507* |
probably null |
Het |
| Slc39a4 |
C |
T |
15: 76,498,283 (GRCm39) |
D385N |
probably damaging |
Het |
| Tnfsf13b |
T |
C |
8: 10,057,314 (GRCm39) |
F128S |
possibly damaging |
Het |
| Vmn1r49 |
A |
G |
6: 90,049,195 (GRCm39) |
V269A |
probably benign |
Het |
| Vmn2r69 |
T |
A |
7: 85,061,724 (GRCm39) |
E83D |
probably benign |
Het |
| Vmn2r76 |
T |
C |
7: 85,879,560 (GRCm39) |
N247D |
probably benign |
Het |
| Zmym4 |
A |
G |
4: 126,808,878 (GRCm39) |
S390P |
possibly damaging |
Het |
|
| Other mutations in Sesn3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00970:Sesn3
|
APN |
9 |
14,232,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01396:Sesn3
|
APN |
9 |
14,232,374 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL01925:Sesn3
|
APN |
9 |
14,231,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02016:Sesn3
|
APN |
9 |
14,231,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02498:Sesn3
|
APN |
9 |
14,217,564 (GRCm39) |
splice site |
probably benign |
|
|
IGL02892:Sesn3
|
APN |
9 |
14,226,030 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02933:Sesn3
|
APN |
9 |
14,232,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03112:Sesn3
|
APN |
9 |
14,221,557 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0591:Sesn3
|
UTSW |
9 |
14,219,854 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1450:Sesn3
|
UTSW |
9 |
14,227,520 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1495:Sesn3
|
UTSW |
9 |
14,219,817 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1897:Sesn3
|
UTSW |
9 |
14,219,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2237:Sesn3
|
UTSW |
9 |
14,219,761 (GRCm39) |
missense |
probably benign |
|
|
R2238:Sesn3
|
UTSW |
9 |
14,219,761 (GRCm39) |
missense |
probably benign |
|
|
R4209:Sesn3
|
UTSW |
9 |
14,217,505 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4352:Sesn3
|
UTSW |
9 |
14,231,669 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4535:Sesn3
|
UTSW |
9 |
14,233,954 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4572:Sesn3
|
UTSW |
9 |
14,232,516 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6261:Sesn3
|
UTSW |
9 |
14,232,459 (GRCm39) |
missense |
probably benign |
0.27 |
|
R6304:Sesn3
|
UTSW |
9 |
14,233,857 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6556:Sesn3
|
UTSW |
9 |
14,232,549 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6906:Sesn3
|
UTSW |
9 |
14,236,937 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6988:Sesn3
|
UTSW |
9 |
14,221,553 (GRCm39) |
nonsense |
probably null |
|
|
R7289:Sesn3
|
UTSW |
9 |
14,187,848 (GRCm39) |
start codon destroyed |
probably benign |
|
|
R7318:Sesn3
|
UTSW |
9 |
14,219,873 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7646:Sesn3
|
UTSW |
9 |
14,219,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8768:Sesn3
|
UTSW |
9 |
14,225,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8823:Sesn3
|
UTSW |
9 |
14,221,536 (GRCm39) |
intron |
probably benign |
|
|
R8923:Sesn3
|
UTSW |
9 |
14,217,562 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9336:Sesn3
|
UTSW |
9 |
14,225,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9647:Sesn3
|
UTSW |
9 |
14,225,999 (GRCm39) |
missense |
probably benign |
0.12 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGTATAGTCGAGGTTTTCACC -3'
(R):5'- CGCTTTGTAGAAATGCCTGCTG -3'
Sequencing Primer
(F):5'- AAGCCATGTGGTCAACAC -3'
(R):5'- CCTGCTGGCTCCTTTAGAGG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation