Incidental Mutation 'IGL02109:Scgn'
| ID |
281159 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Scgn
|
| Ensembl Gene |
ENSMUSG00000021337 |
| Gene Name |
secretagogin, EF-hand calcium binding protein |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
IGL02109
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
24137439-24175197 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 24137948 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 241
(D241G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021770
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021770]
[ENSMUST00000142826]
|
| AlphaFold |
Q91WD9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021770
AA Change: D241G
PolyPhen 2
Score 0.799 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000021770
Gene: ENSMUSG00000021337
AA Change: D241G
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
16 |
44 |
3.97e1 |
SMART |
|
Blast:EFh
|
62 |
90 |
6e-6 |
BLAST |
|
EFh
|
109 |
137 |
8.63e-6 |
SMART |
|
EFh
|
153 |
181 |
1.74e-1 |
SMART |
|
EFh
|
201 |
229 |
4.28e0 |
SMART |
|
EFh
|
244 |
273 |
7.79e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142826
AA Change: D84G
PolyPhen 2
Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154766
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226031
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The encoded protein is a secreted calcium-binding protein which is found in the cytoplasm. It is related to calbindin D-28K and calretinin. This protein is thought to be involved in KCL-stimulated calcium flux and cell proliferation. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank1 |
T |
A |
8: 23,586,200 (GRCm39) |
N427K |
probably damaging |
Het |
| Ano10 |
C |
T |
9: 122,090,408 (GRCm39) |
E302K |
probably damaging |
Het |
| Arl3 |
T |
A |
19: 46,530,785 (GRCm39) |
|
probably benign |
Het |
| Clec14a |
T |
A |
12: 58,314,934 (GRCm39) |
E229D |
probably benign |
Het |
| Ctbp1 |
T |
C |
5: 33,424,312 (GRCm39) |
D26G |
probably damaging |
Het |
| Flt3 |
G |
T |
5: 147,287,491 (GRCm39) |
H671N |
probably benign |
Het |
| Fras1 |
A |
G |
5: 96,848,382 (GRCm39) |
D1799G |
probably benign |
Het |
| Il20ra |
G |
A |
10: 19,635,253 (GRCm39) |
G498D |
possibly damaging |
Het |
| Kcnu1 |
T |
G |
8: 26,427,727 (GRCm39) |
L348R |
possibly damaging |
Het |
| Lrpprc |
A |
T |
17: 85,033,998 (GRCm39) |
L999* |
probably null |
Het |
| Myt1 |
T |
G |
2: 181,457,410 (GRCm39) |
|
probably benign |
Het |
| N4bp2 |
C |
T |
5: 65,955,477 (GRCm39) |
T467M |
probably damaging |
Het |
| Nup98 |
T |
C |
7: 101,832,693 (GRCm39) |
T355A |
probably benign |
Het |
| Ocstamp |
A |
T |
2: 165,239,256 (GRCm39) |
V310E |
possibly damaging |
Het |
| Or4k39 |
T |
G |
2: 111,238,838 (GRCm39) |
|
noncoding transcript |
Het |
| Or8b3 |
T |
C |
9: 38,314,382 (GRCm39) |
F71L |
possibly damaging |
Het |
| Plcb1 |
C |
A |
2: 134,628,479 (GRCm39) |
H9Q |
probably damaging |
Het |
| Plxna4 |
T |
A |
6: 32,192,576 (GRCm39) |
Q795L |
probably benign |
Het |
| Pms1 |
A |
G |
1: 53,246,568 (GRCm39) |
S324P |
probably damaging |
Het |
| Pnldc1 |
G |
T |
17: 13,124,425 (GRCm39) |
H143Q |
probably benign |
Het |
| Ppp1r12b |
A |
G |
1: 134,800,543 (GRCm39) |
|
probably null |
Het |
| Ryr3 |
A |
G |
2: 112,779,502 (GRCm39) |
F250L |
probably benign |
Het |
| St8sia4 |
T |
C |
1: 95,588,617 (GRCm39) |
I73V |
possibly damaging |
Het |
| Tle3 |
T |
A |
9: 61,320,332 (GRCm39) |
C595S |
probably damaging |
Het |
| Tmem209 |
T |
C |
6: 30,497,944 (GRCm39) |
Y117C |
probably damaging |
Het |
| Tshr |
T |
A |
12: 91,504,766 (GRCm39) |
I568N |
probably damaging |
Het |
| Ttll10 |
C |
T |
4: 156,131,937 (GRCm39) |
D22N |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,640,202 (GRCm39) |
V13802E |
probably damaging |
Het |
|
| Other mutations in Scgn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01553:Scgn
|
APN |
13 |
24,143,662 (GRCm39) |
missense |
probably benign |
|
|
R0865:Scgn
|
UTSW |
13 |
24,146,102 (GRCm39) |
splice site |
probably null |
|
|
R1761:Scgn
|
UTSW |
13 |
24,143,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1916:Scgn
|
UTSW |
13 |
24,162,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2026:Scgn
|
UTSW |
13 |
24,175,047 (GRCm39) |
start gained |
probably benign |
|
|
R4940:Scgn
|
UTSW |
13 |
24,173,807 (GRCm39) |
missense |
probably benign |
|
|
R5008:Scgn
|
UTSW |
13 |
24,174,958 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6579:Scgn
|
UTSW |
13 |
24,143,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7191:Scgn
|
UTSW |
13 |
24,165,476 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7455:Scgn
|
UTSW |
13 |
24,150,848 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7571:Scgn
|
UTSW |
13 |
24,137,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9341:Scgn
|
UTSW |
13 |
24,173,829 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9343:Scgn
|
UTSW |
13 |
24,173,829 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9473:Scgn
|
UTSW |
13 |
24,143,731 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9559:Scgn
|
UTSW |
13 |
24,137,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation