Incidental Mutation 'IGL00755:Scrn1'
| ID |
13940 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Scrn1
|
| Ensembl Gene |
ENSMUSG00000019124 |
| Gene Name |
secernin 1 |
| Synonyms |
2810019K23Rik, SES1, 6330535A03Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
IGL00755
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
54478158-54543474 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 54497694 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 299
(D299V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000019268
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019268]
|
| AlphaFold |
Q9CZC8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000019268
AA Change: D299V
PolyPhen 2
Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000019268
Gene: ENSMUSG00000019124
AA Change: D299V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_C69
|
45 |
236 |
3.4e-10 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000203800
AA Change: D48V
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene likely encodes a member of the secernin family of proteins. A similar protein in rat functions in regulation of exocytosis in mast cells. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,492,102 (GRCm39) |
Y4381C |
possibly damaging |
Het |
| Card6 |
G |
A |
15: 5,128,423 (GRCm39) |
T991I |
possibly damaging |
Het |
| Cd163 |
A |
G |
6: 124,295,616 (GRCm39) |
N684S |
possibly damaging |
Het |
| Cep290 |
A |
G |
10: 100,366,966 (GRCm39) |
T1106A |
probably damaging |
Het |
| Cplx4 |
T |
A |
18: 66,090,166 (GRCm39) |
|
probably benign |
Het |
| Crygd |
C |
T |
1: 65,101,250 (GRCm39) |
R115Q |
probably benign |
Het |
| Dnah6 |
A |
T |
6: 73,189,417 (GRCm39) |
|
probably null |
Het |
| Dock8 |
A |
G |
19: 25,028,873 (GRCm39) |
K26E |
probably benign |
Het |
| Fancl |
G |
A |
11: 26,420,916 (GRCm39) |
V349I |
probably benign |
Het |
| Gsg1l |
A |
G |
7: 125,522,598 (GRCm39) |
F210S |
possibly damaging |
Het |
| Mboat2 |
T |
A |
12: 25,007,645 (GRCm39) |
V419E |
probably benign |
Het |
| Mycbp2 |
A |
G |
14: 103,432,057 (GRCm39) |
V2327A |
possibly damaging |
Het |
| Ndnf |
C |
T |
6: 65,680,242 (GRCm39) |
P174S |
probably damaging |
Het |
| Nlrp9b |
A |
T |
7: 19,757,447 (GRCm39) |
D228V |
probably damaging |
Het |
| Prps2 |
A |
T |
X: 166,157,138 (GRCm39) |
I56N |
possibly damaging |
Het |
| Reln |
A |
G |
5: 22,265,378 (GRCm39) |
V438A |
probably damaging |
Het |
| Rmdn1 |
T |
A |
4: 19,580,401 (GRCm39) |
N42K |
probably benign |
Het |
| Sass6 |
G |
A |
3: 116,411,977 (GRCm39) |
E312K |
probably damaging |
Het |
| Slk |
T |
A |
19: 47,597,449 (GRCm39) |
C86S |
probably damaging |
Het |
| Veph1 |
C |
T |
3: 66,162,431 (GRCm39) |
E76K |
probably damaging |
Het |
| Zfp282 |
C |
T |
6: 47,857,324 (GRCm39) |
P186S |
probably damaging |
Het |
|
| Other mutations in Scrn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00937:Scrn1
|
APN |
6 |
54,497,718 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01568:Scrn1
|
APN |
6 |
54,499,739 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02572:Scrn1
|
APN |
6 |
54,489,186 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03251:Scrn1
|
APN |
6 |
54,525,322 (GRCm39) |
nonsense |
probably null |
|
|
IGL03279:Scrn1
|
APN |
6 |
54,525,322 (GRCm39) |
nonsense |
probably null |
|
|
IGL03301:Scrn1
|
APN |
6 |
54,525,322 (GRCm39) |
nonsense |
probably null |
|
|
IGL03307:Scrn1
|
APN |
6 |
54,525,322 (GRCm39) |
nonsense |
probably null |
|
|
R1583:Scrn1
|
UTSW |
6 |
54,497,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1658:Scrn1
|
UTSW |
6 |
54,497,791 (GRCm39) |
missense |
probably benign |
|
|
R1843:Scrn1
|
UTSW |
6 |
54,499,826 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R2314:Scrn1
|
UTSW |
6 |
54,502,631 (GRCm39) |
missense |
probably benign |
0.43 |
|
R4795:Scrn1
|
UTSW |
6 |
54,497,754 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4960:Scrn1
|
UTSW |
6 |
54,511,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5420:Scrn1
|
UTSW |
6 |
54,489,048 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8057:Scrn1
|
UTSW |
6 |
54,497,758 (GRCm39) |
missense |
probably benign |
|
|
R8340:Scrn1
|
UTSW |
6 |
54,511,518 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8544:Scrn1
|
UTSW |
6 |
54,499,841 (GRCm39) |
missense |
probably benign |
|
|
R9465:Scrn1
|
UTSW |
6 |
54,502,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation