Incidental Mutation 'IGL00970:Sesn3'
| ID |
28243 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sesn3
|
| Ensembl Gene |
ENSMUSG00000032009 |
| Gene Name |
sestrin 3 |
| Synonyms |
5630400E15Rik, SEST3 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00970
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
14187597-14237430 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 14232438 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 237
(D237G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146784
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034507]
[ENSMUST00000208222]
[ENSMUST00000209187]
|
| AlphaFold |
Q9CYP7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034507
AA Change: D298G
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000034507
Gene: ENSMUSG00000032009
AA Change: D298G
| 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 |
probably damaging
Transcript: ENSMUST00000208222
AA Change: D376G
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209106
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209145
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209187
AA Change: D237G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| 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 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts19 |
T |
A |
18: 59,144,149 (GRCm39) |
N910K |
possibly damaging |
Het |
| Atp8b5 |
A |
G |
4: 43,311,938 (GRCm39) |
T184A |
probably benign |
Het |
| Cabp7 |
T |
C |
11: 4,688,931 (GRCm39) |
I180V |
probably benign |
Het |
| Casp8ap2 |
A |
G |
4: 32,646,182 (GRCm39) |
T1752A |
probably benign |
Het |
| Dgkb |
T |
C |
12: 38,240,082 (GRCm39) |
L453P |
probably damaging |
Het |
| Disp2 |
A |
C |
2: 118,622,274 (GRCm39) |
D1002A |
probably damaging |
Het |
| Eif3c |
G |
A |
7: 126,158,180 (GRCm39) |
P259S |
probably benign |
Het |
| Eif4a3l1 |
A |
G |
6: 136,306,109 (GRCm39) |
D169G |
probably damaging |
Het |
| Fam227b |
A |
T |
2: 125,968,980 (GRCm39) |
D31E |
probably benign |
Het |
| Farp2 |
T |
C |
1: 93,488,049 (GRCm39) |
V92A |
probably benign |
Het |
| Fhod1 |
C |
A |
8: 106,058,734 (GRCm39) |
V745L |
possibly damaging |
Het |
| Gprin3 |
T |
C |
6: 59,330,822 (GRCm39) |
E495G |
possibly damaging |
Het |
| Grm5 |
T |
C |
7: 87,453,104 (GRCm39) |
I247T |
probably damaging |
Het |
| Herc2 |
T |
C |
7: 55,830,812 (GRCm39) |
|
probably benign |
Het |
| Hoatz |
T |
A |
9: 50,994,886 (GRCm39) |
K148* |
probably null |
Het |
| Hspg2 |
C |
A |
4: 137,269,901 (GRCm39) |
Q2311K |
probably benign |
Het |
| Krt26 |
T |
C |
11: 99,222,107 (GRCm39) |
Y400C |
probably benign |
Het |
| Lct |
A |
T |
1: 128,231,805 (GRCm39) |
D681E |
probably damaging |
Het |
| Lgalsl |
G |
T |
11: 20,776,493 (GRCm39) |
P133Q |
probably benign |
Het |
| Man2b2 |
C |
T |
5: 36,973,487 (GRCm39) |
W76* |
probably null |
Het |
| Mylk4 |
T |
C |
13: 32,899,905 (GRCm39) |
E326G |
probably damaging |
Het |
| Odam |
T |
G |
5: 88,034,467 (GRCm39) |
|
probably benign |
Het |
| Pabpc4 |
T |
C |
4: 123,180,608 (GRCm39) |
I110T |
probably damaging |
Het |
| Pcdh15 |
A |
T |
10: 74,215,172 (GRCm39) |
D47V |
probably damaging |
Het |
| Plekhg4 |
C |
T |
8: 106,105,067 (GRCm39) |
R577C |
probably benign |
Het |
| Pnpo |
C |
A |
11: 96,834,618 (GRCm39) |
C26F |
possibly damaging |
Het |
| Polg |
T |
C |
7: 79,101,493 (GRCm39) |
I1071M |
probably benign |
Het |
| Prr23a2 |
A |
G |
9: 98,739,014 (GRCm39) |
D124G |
probably benign |
Het |
| Rexo1 |
C |
T |
10: 80,386,798 (GRCm39) |
V87I |
probably damaging |
Het |
| Robo2 |
C |
A |
16: 73,693,934 (GRCm39) |
V1502L |
probably benign |
Het |
| Ruvbl2 |
A |
G |
7: 45,078,994 (GRCm39) |
L50P |
possibly damaging |
Het |
| Ryr3 |
T |
C |
2: 112,595,021 (GRCm39) |
K2534E |
probably damaging |
Het |
| Scfd2 |
T |
C |
5: 74,691,595 (GRCm39) |
H229R |
possibly damaging |
Het |
| Shank1 |
T |
C |
7: 44,003,662 (GRCm39) |
S1785P |
possibly damaging |
Het |
| Slc11a1 |
A |
G |
1: 74,419,821 (GRCm39) |
T165A |
probably damaging |
Het |
| Star |
G |
A |
8: 26,302,894 (GRCm39) |
|
probably null |
Het |
| Trpc6 |
A |
T |
9: 8,653,152 (GRCm39) |
N575Y |
probably damaging |
Het |
| Unc5d |
T |
C |
8: 29,186,456 (GRCm39) |
T598A |
probably benign |
Het |
| Vmn1r200 |
A |
T |
13: 22,579,893 (GRCm39) |
Q232L |
probably damaging |
Het |
| Wdr31 |
T |
C |
4: 62,375,757 (GRCm39) |
T233A |
probably damaging |
Het |
| Zzef1 |
G |
A |
11: 72,806,071 (GRCm39) |
R2669Q |
probably benign |
Het |
|
| Other mutations in Sesn3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R6741:Sesn3
|
UTSW |
9 |
14,231,636 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
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 |
|
| Posted On |
2013-04-17 |
Incidental Mutation