Incidental Mutation 'R4535:Sesn3'
| ID |
333292 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sesn3
|
| Ensembl Gene |
ENSMUSG00000032009 |
| Gene Name |
sestrin 3 |
| Synonyms |
5630400E15Rik, SEST3 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4535 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
14187597-14237430 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 14233954 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 309
(T309K)
|
| 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: T370K
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000034507
Gene: ENSMUSG00000032009
AA Change: T370K
| 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: ENSMUST00000208142
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208222
AA Change: T448K
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209106
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209145
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209187
AA Change: T309K
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef4 |
T |
C |
1: 34,762,162 (GRCm39) |
S473P |
unknown |
Het |
| Azin1 |
A |
T |
15: 38,493,849 (GRCm39) |
I258N |
probably benign |
Het |
| Bod1l |
G |
A |
5: 41,989,574 (GRCm39) |
A383V |
probably benign |
Het |
| Carmil3 |
GGACGA |
GGA |
14: 55,736,933 (GRCm39) |
|
probably benign |
Het |
| Cd200r3 |
T |
A |
16: 44,774,552 (GRCm39) |
D188E |
probably benign |
Het |
| Cd4 |
A |
T |
6: 124,847,414 (GRCm39) |
F250Y |
probably benign |
Het |
| Clcn4 |
T |
A |
7: 7,290,813 (GRCm39) |
Y662F |
probably benign |
Het |
| Cpa2 |
T |
C |
6: 30,552,020 (GRCm39) |
V249A |
probably benign |
Het |
| Depdc5 |
CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT |
CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT |
5: 33,067,751 (GRCm39) |
|
probably benign |
Het |
| Dhx57 |
A |
G |
17: 80,582,511 (GRCm39) |
Y365H |
probably damaging |
Het |
| Dsg1c |
A |
G |
18: 20,408,322 (GRCm39) |
E457G |
probably benign |
Het |
| Eef2k |
T |
A |
7: 120,457,822 (GRCm39) |
Y60* |
probably null |
Het |
| Efcc1 |
A |
G |
6: 87,730,133 (GRCm39) |
D482G |
probably null |
Het |
| Exoc4 |
C |
T |
6: 33,254,179 (GRCm39) |
R112C |
probably damaging |
Het |
| Fam178b |
A |
T |
1: 36,639,606 (GRCm39) |
D293E |
probably benign |
Het |
| Fbxl21 |
G |
A |
13: 56,674,873 (GRCm39) |
V49I |
probably damaging |
Het |
| Fyco1 |
A |
G |
9: 123,667,953 (GRCm39) |
V91A |
probably damaging |
Het |
| H2-M10.4 |
T |
C |
17: 36,772,736 (GRCm39) |
E82G |
probably damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,439,531 (GRCm39) |
I5434T |
probably damaging |
Het |
| Hormad1 |
T |
C |
3: 95,492,452 (GRCm39) |
V343A |
probably benign |
Het |
| Incenp |
T |
C |
19: 9,861,303 (GRCm39) |
N450S |
unknown |
Het |
| Iqsec3 |
T |
C |
6: 121,356,977 (GRCm39) |
K1035E |
possibly damaging |
Het |
| Ltn1 |
A |
T |
16: 87,223,174 (GRCm39) |
V102D |
probably damaging |
Het |
| Mcur1 |
T |
C |
13: 43,698,016 (GRCm39) |
T295A |
probably damaging |
Het |
| Pals1 |
A |
T |
12: 78,871,611 (GRCm39) |
D397V |
possibly damaging |
Het |
| Pcdha3 |
T |
C |
18: 37,081,013 (GRCm39) |
V585A |
probably damaging |
Het |
| Plcd4 |
A |
G |
1: 74,602,627 (GRCm39) |
T594A |
probably damaging |
Het |
| Ppp1r3c |
T |
C |
19: 36,711,522 (GRCm39) |
K83E |
probably damaging |
Het |
| Slc38a3 |
T |
C |
9: 107,533,405 (GRCm39) |
N251S |
probably benign |
Het |
| Sptbn4 |
A |
G |
7: 27,067,127 (GRCm39) |
V614A |
probably damaging |
Het |
| Srsf4 |
A |
G |
4: 131,601,175 (GRCm39) |
K34R |
probably damaging |
Het |
| Tfpi2 |
T |
C |
6: 3,968,044 (GRCm39) |
N32S |
possibly damaging |
Het |
| Ttll2 |
A |
T |
17: 7,619,120 (GRCm39) |
I269N |
probably benign |
Het |
| Utp3 |
T |
C |
5: 88,703,458 (GRCm39) |
V329A |
probably benign |
Het |
| Vmn2r102 |
A |
G |
17: 19,914,975 (GRCm39) |
T847A |
probably benign |
Het |
| Vmn2r70 |
A |
T |
7: 85,214,541 (GRCm39) |
W204R |
probably damaging |
Het |
| Xrcc3 |
A |
G |
12: 111,770,966 (GRCm39) |
L321P |
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 |
|
|
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 |
|
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'- CGTAATGAGCTTTGCTTATGACATC -3'
(R):5'- GATTGAGCACACATCTAAACTTGTG -3'
Sequencing Primer
(F):5'- CATTGAATAGCAACATCTGAGCAGTG -3'
(R):5'- GTGAACAGTCCATACCCTTAGATG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation