Incidental Mutation 'R3940:S100a10'
| ID |
307402 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
S100a10
|
| Ensembl Gene |
ENSMUSG00000041959 |
| Gene Name |
S100 calcium binding protein A10 (calpactin) |
| Synonyms |
CLP11, CAL12, p10, 42C, Cal1l |
| MMRRC Submission |
040922-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.198)
|
| Stock # |
R3940 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
93462424-93471952 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 93468383 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 38
(E38G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130712
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045756]
[ENSMUST00000170612]
|
| AlphaFold |
P08207 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045756
AA Change: E38G
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000036949
Gene: ENSMUSG00000041959
AA Change: E38G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:S_100
|
5 |
45 |
5.7e-17 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148400
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170612
AA Change: E38G
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000130712
Gene: ENSMUSG00000041959
AA Change: E38G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:S_100
|
5 |
44 |
5.2e-18 |
PFAM |
|
| Meta Mutation Damage Score |
0.5293 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
95% (35/37) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in exocytosis and endocytosis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele display a depression-like phenotype, decreased responsiveness to 5-HT1B receptor agonists, and reduced behavioral reactions to an antidepressant. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930567H17Rik |
C |
T |
X: 69,438,135 (GRCm39) |
A53T |
probably benign |
Het |
| Acsm3 |
A |
G |
7: 119,373,109 (GRCm39) |
E204G |
probably benign |
Het |
| Acta2 |
A |
T |
19: 34,220,880 (GRCm39) |
I276N |
possibly damaging |
Het |
| Ankrd16 |
T |
C |
2: 11,789,192 (GRCm39) |
C260R |
probably benign |
Het |
| Ankrd42 |
T |
C |
7: 92,240,996 (GRCm39) |
|
probably null |
Het |
| Atp13a2 |
T |
C |
4: 140,733,733 (GRCm39) |
S1041P |
probably damaging |
Het |
| Brinp3 |
C |
A |
1: 146,627,599 (GRCm39) |
D277E |
probably damaging |
Het |
| Calm5 |
A |
T |
13: 3,904,485 (GRCm39) |
I37F |
possibly damaging |
Het |
| Casq1 |
A |
G |
1: 172,047,103 (GRCm39) |
V52A |
possibly damaging |
Het |
| Col22a1 |
A |
T |
15: 71,853,782 (GRCm39) |
L260* |
probably null |
Het |
| Cttnbp2 |
C |
A |
6: 18,420,974 (GRCm39) |
V846L |
probably benign |
Het |
| Dnah12 |
A |
G |
14: 26,444,754 (GRCm39) |
T627A |
probably benign |
Het |
| Eogt |
T |
C |
6: 97,090,875 (GRCm39) |
I421M |
probably damaging |
Het |
| Fam135a |
T |
A |
1: 24,096,556 (GRCm39) |
H63L |
probably damaging |
Het |
| Fmo3 |
T |
A |
1: 162,791,555 (GRCm39) |
T241S |
probably benign |
Het |
| Frem3 |
T |
C |
8: 81,341,649 (GRCm39) |
I1314T |
possibly damaging |
Het |
| Gm14393 |
T |
C |
2: 174,903,420 (GRCm39) |
|
probably null |
Het |
| Kcna5 |
C |
T |
6: 126,510,614 (GRCm39) |
V505I |
probably damaging |
Het |
| Kit |
A |
G |
5: 75,769,978 (GRCm39) |
D130G |
probably benign |
Het |
| Neto2 |
G |
A |
8: 86,400,747 (GRCm39) |
T16I |
probably damaging |
Het |
| Or7a41 |
T |
A |
10: 78,871,038 (GRCm39) |
I136N |
probably damaging |
Het |
| Or8k40 |
T |
A |
2: 86,584,275 (GRCm39) |
D269V |
possibly damaging |
Het |
| Pcdhb7 |
T |
C |
18: 37,477,021 (GRCm39) |
L719P |
probably damaging |
Het |
| Pcdhga9 |
G |
A |
18: 37,871,995 (GRCm39) |
R608H |
probably benign |
Het |
| Pik3ip1 |
A |
G |
11: 3,281,987 (GRCm39) |
N48S |
probably damaging |
Het |
| Pkn2 |
G |
A |
3: 142,499,672 (GRCm39) |
S951L |
probably damaging |
Het |
| Prrc2a |
T |
C |
17: 35,376,474 (GRCm39) |
H772R |
possibly damaging |
Het |
| Ric1 |
T |
C |
19: 29,548,162 (GRCm39) |
Y277H |
probably damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Rnf123 |
A |
T |
9: 107,941,234 (GRCm39) |
|
probably benign |
Het |
| Robo1 |
T |
C |
16: 72,806,631 (GRCm39) |
S1166P |
probably benign |
Het |
| Slc34a1 |
A |
T |
13: 55,560,983 (GRCm39) |
I483F |
probably damaging |
Het |
| Stim1 |
A |
G |
7: 102,084,848 (GRCm39) |
N600S |
probably benign |
Het |
| Ube3c |
T |
A |
5: 29,824,358 (GRCm39) |
N517K |
probably benign |
Het |
|
| Other mutations in S100a10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1870:S100a10
|
UTSW |
3 |
93,468,377 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2162:S100a10
|
UTSW |
3 |
93,471,680 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3831:S100a10
|
UTSW |
3 |
93,471,680 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3833:S100a10
|
UTSW |
3 |
93,471,680 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5116:S100a10
|
UTSW |
3 |
93,468,247 (GRCm39) |
splice site |
probably null |
|
|
R7553:S100a10
|
UTSW |
3 |
93,471,602 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9649:S100a10
|
UTSW |
3 |
93,471,590 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
RF011:S100a10
|
UTSW |
3 |
93,471,541 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
Z1177:S100a10
|
UTSW |
3 |
93,462,475 (GRCm39) |
start gained |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGGTGATTAGACCTTCTGCTTTC -3'
(R):5'- CCTCATGATGTGCCAATGGG -3'
Sequencing Primer
(F):5'- CTGTCTAAAGATTTTCATACCTGTGG -3'
(R):5'- TCACCTGCAGATTGAGAGTTC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation