Incidental Mutation 'IGL03112:Sesn3'
| ID |
419238 |
| 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 # |
IGL03112
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
14187597-14237430 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 14221557 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 119
(H119R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146362
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034507]
[ENSMUST00000208222]
[ENSMUST00000209187]
|
| AlphaFold |
Q9CYP7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034507
AA Change: H41R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000034507
Gene: ENSMUSG00000032009
AA Change: H41R
| 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 |
probably damaging
Transcript: ENSMUST00000208222
AA Change: H119R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209106
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209145
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209187
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam26b |
T |
C |
8: 43,974,549 (GRCm39) |
N151S |
probably benign |
Het |
| Adgre1 |
G |
A |
17: 57,755,029 (GRCm39) |
|
probably null |
Het |
| Apol11a |
T |
A |
15: 77,401,509 (GRCm39) |
L332Q |
probably damaging |
Het |
| B430306N03Rik |
C |
T |
17: 48,623,834 (GRCm39) |
S45L |
probably benign |
Het |
| Cend1 |
G |
A |
7: 141,007,640 (GRCm39) |
T60M |
probably benign |
Het |
| Col6a3 |
C |
A |
1: 90,739,242 (GRCm39) |
E329* |
probably null |
Het |
| Col9a3 |
A |
G |
2: 180,249,435 (GRCm39) |
R266G |
possibly damaging |
Het |
| Defb48 |
C |
T |
14: 63,221,854 (GRCm39) |
|
probably benign |
Het |
| Eps8l2 |
T |
G |
7: 140,941,649 (GRCm39) |
L640R |
probably damaging |
Het |
| Exoc2 |
T |
A |
13: 31,090,570 (GRCm39) |
|
probably benign |
Het |
| Fam149a |
C |
T |
8: 45,801,580 (GRCm39) |
V514M |
possibly damaging |
Het |
| Fbxo25 |
A |
T |
8: 13,971,034 (GRCm39) |
D74V |
probably benign |
Het |
| Gm11733 |
A |
G |
11: 117,377,966 (GRCm39) |
*126W |
probably null |
Het |
| Grm8 |
C |
T |
6: 27,363,262 (GRCm39) |
C751Y |
probably damaging |
Het |
| Kctd16 |
A |
T |
18: 40,391,853 (GRCm39) |
D147V |
probably benign |
Het |
| Lclat1 |
A |
T |
17: 73,546,742 (GRCm39) |
T220S |
probably damaging |
Het |
| Lgi1 |
T |
A |
19: 38,272,478 (GRCm39) |
H116Q |
possibly damaging |
Het |
| Lrrc40 |
G |
A |
3: 157,747,302 (GRCm39) |
|
probably benign |
Het |
| Lsm4 |
T |
A |
8: 71,130,656 (GRCm39) |
I60N |
probably damaging |
Het |
| Morn1 |
T |
A |
4: 155,177,601 (GRCm39) |
Y178N |
probably damaging |
Het |
| Mybl2 |
A |
G |
2: 162,904,456 (GRCm39) |
E89G |
probably damaging |
Het |
| Myo18b |
T |
C |
5: 113,021,856 (GRCm39) |
E512G |
probably benign |
Het |
| Myrfl |
A |
T |
10: 116,639,311 (GRCm39) |
S583T |
probably benign |
Het |
| Nek6 |
A |
G |
2: 38,450,914 (GRCm39) |
I106V |
probably damaging |
Het |
| Oas1a |
A |
T |
5: 121,036,412 (GRCm39) |
D338E |
possibly damaging |
Het |
| Or10ag52 |
T |
A |
2: 87,043,944 (GRCm39) |
I236N |
probably damaging |
Het |
| Or4a76 |
G |
A |
2: 89,460,678 (GRCm39) |
T188I |
probably benign |
Het |
| Or6c1 |
A |
G |
10: 129,517,792 (GRCm39) |
V272A |
probably benign |
Het |
| Pitrm1 |
C |
A |
13: 6,615,044 (GRCm39) |
Q508K |
probably benign |
Het |
| S100b |
A |
G |
10: 76,095,808 (GRCm39) |
D62G |
probably damaging |
Het |
| Sez6l |
T |
A |
5: 112,621,333 (GRCm39) |
E247V |
probably damaging |
Het |
| Shoc1 |
G |
T |
4: 59,049,355 (GRCm39) |
Q1069K |
probably benign |
Het |
| Shq1 |
C |
A |
6: 100,550,574 (GRCm39) |
E455* |
probably null |
Het |
| Slc9b1 |
T |
A |
3: 135,103,433 (GRCm39) |
M521K |
probably damaging |
Het |
| Supt16 |
A |
G |
14: 52,413,855 (GRCm39) |
F543L |
probably damaging |
Het |
| Tcf25 |
T |
C |
8: 124,109,258 (GRCm39) |
|
probably benign |
Het |
| Usp48 |
C |
A |
4: 137,335,375 (GRCm39) |
Q183K |
probably damaging |
Het |
| Vmn1r178 |
G |
A |
7: 23,593,086 (GRCm39) |
G45S |
probably damaging |
Het |
| Vmn1r237 |
T |
A |
17: 21,534,368 (GRCm39) |
Y30* |
probably null |
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 |
|
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 |
2016-08-02 |
Incidental Mutation