Incidental Mutation 'R1306:Sertad2'
| ID |
157806 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sertad2
|
| Ensembl Gene |
ENSMUSG00000049800 |
| Gene Name |
SERTA domain containing 2 |
| Synonyms |
SEI-2, Trip-Br2, Sei2 |
| MMRRC Submission |
039372-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.483)
|
| Stock # |
R1306 (G1)
|
| Quality Score |
146 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
20493253-20603021 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 20598388 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 195
(S195P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105215
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093292]
[ENSMUST00000109585]
[ENSMUST00000109586]
|
| AlphaFold |
Q9JJG5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093292
AA Change: S195P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000090981
Gene: ENSMUSG00000049800
AA Change: S195P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SERTA
|
40 |
77 |
1.6e-20 |
PFAM |
|
low complexity region
|
89 |
99 |
N/A |
INTRINSIC |
|
low complexity region
|
175 |
189 |
N/A |
INTRINSIC |
|
low complexity region
|
226 |
248 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109585
AA Change: S195P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000105214
Gene: ENSMUSG00000049800
AA Change: S195P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SERTA
|
40 |
77 |
5.3e-20 |
PFAM |
|
low complexity region
|
89 |
99 |
N/A |
INTRINSIC |
|
low complexity region
|
175 |
189 |
N/A |
INTRINSIC |
|
low complexity region
|
226 |
248 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109586
AA Change: S195P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000105215
Gene: ENSMUSG00000049800
AA Change: S195P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SERTA
|
40 |
77 |
5.3e-20 |
PFAM |
|
low complexity region
|
89 |
99 |
N/A |
INTRINSIC |
|
low complexity region
|
175 |
189 |
N/A |
INTRINSIC |
|
low complexity region
|
226 |
248 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.9%
- 10x: 95.1%
- 20x: 89.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a gene trap allele exhibit enhanced lipolysis, thermogenesis, and oxidative metabolism with resistance to diet induced obesity and steatosis and improved when fed a high fat diet. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk3 |
T |
A |
7: 80,743,621 (GRCm39) |
L1146H |
probably damaging |
Het |
| Atad2b |
A |
G |
12: 5,024,239 (GRCm39) |
I121M |
probably benign |
Het |
| Atg2a |
A |
T |
19: 6,303,051 (GRCm39) |
T1053S |
probably benign |
Het |
| Bend5 |
C |
T |
4: 111,316,970 (GRCm39) |
Q127* |
probably null |
Het |
| Ccser1 |
G |
A |
6: 62,357,090 (GRCm39) |
D843N |
probably damaging |
Het |
| Dennd4b |
A |
G |
3: 90,178,472 (GRCm39) |
T512A |
probably benign |
Het |
| Dnmbp |
A |
T |
19: 43,890,218 (GRCm39) |
D516E |
probably benign |
Het |
| Dok3 |
C |
A |
13: 55,675,261 (GRCm39) |
E86* |
probably null |
Het |
| Fat3 |
A |
G |
9: 16,287,975 (GRCm39) |
I516T |
probably damaging |
Het |
| Gabbr1 |
T |
A |
17: 37,366,882 (GRCm39) |
|
probably null |
Het |
| Gjd2 |
T |
C |
2: 113,842,346 (GRCm39) |
T44A |
probably damaging |
Het |
| Mcm7 |
C |
A |
5: 138,165,465 (GRCm39) |
A480S |
probably damaging |
Het |
| Meox2 |
GCACCACCACCACCACCACCA |
GCACCACCACCACCACCA |
12: 37,159,030 (GRCm39) |
|
probably benign |
Het |
| Ntn4 |
C |
T |
10: 93,543,215 (GRCm39) |
R314W |
probably damaging |
Het |
| Pdzph1 |
T |
C |
17: 59,239,427 (GRCm39) |
H967R |
possibly damaging |
Het |
| Pik3c2g |
A |
G |
6: 139,718,154 (GRCm39) |
N227S |
probably benign |
Het |
| Pkd1 |
T |
C |
17: 24,792,146 (GRCm39) |
S1278P |
probably damaging |
Het |
| Plch2 |
T |
C |
4: 155,091,597 (GRCm39) |
E71G |
probably damaging |
Het |
| Pnma8a |
A |
G |
7: 16,695,950 (GRCm39) |
R428G |
probably benign |
Het |
| Slc19a3 |
A |
G |
1: 83,000,483 (GRCm39) |
L178S |
probably damaging |
Het |
| Smarca2 |
A |
G |
19: 26,748,388 (GRCm39) |
D139G |
possibly damaging |
Het |
| Tm4sf19 |
G |
A |
16: 32,226,720 (GRCm39) |
V170M |
probably damaging |
Het |
| Vwa3a |
C |
G |
7: 120,399,613 (GRCm39) |
S1031R |
possibly damaging |
Het |
|
| Other mutations in Sertad2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03008:Sertad2
|
APN |
11 |
20,597,798 (GRCm39) |
splice site |
probably benign |
|
|
wisteria
|
UTSW |
11 |
20,598,664 (GRCm39) |
frame shift |
probably null |
|
|
PIT4366001:Sertad2
|
UTSW |
11 |
20,598,116 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1171:Sertad2
|
UTSW |
11 |
20,598,091 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3834:Sertad2
|
UTSW |
11 |
20,598,482 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4087:Sertad2
|
UTSW |
11 |
20,598,664 (GRCm39) |
frame shift |
probably null |
|
|
R4940:Sertad2
|
UTSW |
11 |
20,597,899 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R5232:Sertad2
|
UTSW |
11 |
20,598,344 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R5621:Sertad2
|
UTSW |
11 |
20,598,061 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5891:Sertad2
|
UTSW |
11 |
20,597,884 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5956:Sertad2
|
UTSW |
11 |
20,597,884 (GRCm39) |
missense |
probably benign |
0.30 |
|
R6006:Sertad2
|
UTSW |
11 |
20,597,884 (GRCm39) |
missense |
probably benign |
0.30 |
|
R6007:Sertad2
|
UTSW |
11 |
20,597,884 (GRCm39) |
missense |
probably benign |
0.30 |
|
R6048:Sertad2
|
UTSW |
11 |
20,598,436 (GRCm39) |
missense |
probably benign |
|
|
R9135:Sertad2
|
UTSW |
11 |
20,598,425 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9136:Sertad2
|
UTSW |
11 |
20,598,425 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9137:Sertad2
|
UTSW |
11 |
20,598,425 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9138:Sertad2
|
UTSW |
11 |
20,598,425 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9431:Sertad2
|
UTSW |
11 |
20,598,425 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGTCTTACACCTTACAGCGCCAG -3'
(R):5'- AGCAAACAAGATGTCATCCAGGGTC -3'
Sequencing Primer
(F):5'- CGACAACGATGACACTTTTTGC -3'
(R):5'- ATGTCATCCAGGGTCAAGTC -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation