Incidental Mutation 'R4209:Sesn3'
| ID |
319074 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sesn3
|
| Ensembl Gene |
ENSMUSG00000032009 |
| Gene Name |
sestrin 3 |
| Synonyms |
5630400E15Rik, SEST3 |
| MMRRC Submission |
041038-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4209 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
14187597-14237430 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 14217505 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 30
(I30T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146362
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034507]
[ENSMUST00000208222]
[ENSMUST00000209187]
|
| AlphaFold |
Q9CYP7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034507
|
| SMART Domains |
Protein: ENSMUSP00000034507
Gene: ENSMUSG00000032009
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
12 |
N/A |
INTRINSIC |
|
Pfam:PA26
|
39 |
491 |
8.4e-204 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208222
AA Change: I30T
PolyPhen 2
Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209106
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209187
|
| Meta Mutation Damage Score |
0.0657 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
98% (45/46) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm3 |
A |
T |
3: 59,784,577 (GRCm39) |
Y350F |
probably damaging |
Het |
| Ahnak |
G |
A |
19: 8,979,964 (GRCm39) |
G416D |
probably damaging |
Het |
| Ap3b2 |
C |
A |
7: 81,126,884 (GRCm39) |
A289S |
probably benign |
Het |
| Arhgap23 |
C |
A |
11: 97,345,322 (GRCm39) |
T657K |
probably damaging |
Het |
| Bcl9 |
A |
G |
3: 97,117,269 (GRCm39) |
L475P |
probably damaging |
Het |
| Bean1 |
T |
A |
8: 104,940,566 (GRCm39) |
M1K |
probably null |
Het |
| Cand1 |
T |
A |
10: 119,047,463 (GRCm39) |
I676F |
probably benign |
Het |
| Casp3 |
G |
T |
8: 47,088,423 (GRCm39) |
D107Y |
probably damaging |
Het |
| Cops4 |
T |
A |
5: 100,695,352 (GRCm39) |
|
probably benign |
Het |
| Dchs1 |
A |
T |
7: 105,415,397 (GRCm39) |
D626E |
probably damaging |
Het |
| Dpysl2 |
T |
C |
14: 67,052,926 (GRCm39) |
S308G |
probably damaging |
Het |
| Fezf1 |
T |
C |
6: 23,246,616 (GRCm39) |
K323E |
probably damaging |
Het |
| Gm10272 |
T |
C |
10: 77,542,665 (GRCm39) |
V69A |
possibly damaging |
Het |
| Gtf2f1 |
A |
G |
17: 57,318,003 (GRCm39) |
V11A |
probably benign |
Het |
| Hnf4a |
T |
C |
2: 163,410,809 (GRCm39) |
S378P |
probably benign |
Het |
| Inpp5j |
T |
G |
11: 3,451,107 (GRCm39) |
H514P |
probably damaging |
Het |
| Irf8 |
T |
A |
8: 121,480,208 (GRCm39) |
Y149N |
probably damaging |
Het |
| Kel |
C |
T |
6: 41,675,359 (GRCm39) |
W297* |
probably null |
Het |
| Man1c1 |
G |
C |
4: 134,430,749 (GRCm39) |
P11R |
probably damaging |
Het |
| Mcpt8 |
G |
A |
14: 56,321,375 (GRCm39) |
H30Y |
probably damaging |
Het |
| Mycl |
G |
T |
4: 122,893,715 (GRCm39) |
V172L |
possibly damaging |
Het |
| Pcgf5 |
C |
A |
19: 36,414,740 (GRCm39) |
N26K |
possibly damaging |
Het |
| Ppp2r2a |
A |
G |
14: 67,266,328 (GRCm39) |
L111S |
probably damaging |
Het |
| Prdm2 |
T |
C |
4: 142,861,007 (GRCm39) |
D761G |
probably damaging |
Het |
| Sec11a |
A |
T |
7: 80,584,790 (GRCm39) |
I49N |
probably damaging |
Het |
| Slc22a21 |
A |
G |
11: 53,846,881 (GRCm39) |
S331P |
probably benign |
Het |
| Slc38a3 |
T |
G |
9: 107,532,547 (GRCm39) |
S358R |
possibly damaging |
Het |
| Slc9a5 |
A |
G |
8: 106,085,103 (GRCm39) |
N535D |
possibly damaging |
Het |
| Spns2 |
T |
C |
11: 72,345,012 (GRCm39) |
D492G |
probably benign |
Het |
| Tcn2 |
T |
C |
11: 3,872,114 (GRCm39) |
K338E |
possibly damaging |
Het |
| Tdp1 |
C |
A |
12: 99,864,588 (GRCm39) |
A243E |
probably damaging |
Het |
| Tex16 |
T |
A |
X: 111,030,640 (GRCm39) |
D1046E |
probably benign |
Het |
| Tmem120a |
T |
C |
5: 135,764,559 (GRCm39) |
N340S |
probably benign |
Het |
| Tnik |
A |
T |
3: 28,413,214 (GRCm39) |
|
probably benign |
Het |
| Trim36 |
A |
G |
18: 46,329,191 (GRCm39) |
L71P |
probably benign |
Het |
| Tube1 |
A |
G |
10: 39,020,930 (GRCm39) |
|
probably null |
Het |
| Urgcp |
C |
A |
11: 5,665,878 (GRCm39) |
G820V |
probably damaging |
Het |
| Veph1 |
A |
T |
3: 66,151,967 (GRCm39) |
L154Q |
probably damaging |
Het |
| Vmn1r113 |
T |
C |
7: 20,521,535 (GRCm39) |
V109A |
probably benign |
Het |
| Vmn1r152 |
A |
T |
7: 22,223,004 (GRCm39) |
T205S |
possibly damaging |
Het |
| Wdsub1 |
G |
A |
2: 59,707,149 (GRCm39) |
P28S |
probably damaging |
Het |
| Ybx2 |
G |
T |
11: 69,826,767 (GRCm39) |
|
probably benign |
Het |
| Zfyve1 |
A |
T |
12: 83,621,909 (GRCm39) |
V162E |
probably 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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTAGAGGCCTGTCCCTTTAG -3'
(R):5'- CTGTGAAATGCTGGTCTCTTTAAAC -3'
Sequencing Primer
(F):5'- TGTCCCTTTAGCTCACATAAACAC -3'
(R):5'- GCTGGTCTCTTTAAACCTTAAAAACC -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation