Incidental Mutation 'IGL00937:Scrn1'
ID |
27639 |
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 # |
IGL00937
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
54478158-54543474 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 54497718 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 291
(I291T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000019268
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019268]
|
AlphaFold |
Q9CZC8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000019268
AA Change: I291T
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000019268 Gene: ENSMUSG00000019124 AA Change: I291T
Domain | Start | End | E-Value | Type |
Pfam:Peptidase_C69
|
45 |
236 |
3.4e-10 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000203800
AA Change: I40T
|
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 |
Cc2d2a |
A |
T |
5: 43,845,464 (GRCm39) |
|
probably null |
Het |
Cd34 |
A |
G |
1: 194,642,422 (GRCm39) |
E381G |
probably damaging |
Het |
Chka |
A |
G |
19: 3,942,189 (GRCm39) |
E381G |
probably benign |
Het |
Dennd1b |
T |
A |
1: 139,097,977 (GRCm39) |
C673S |
probably benign |
Het |
E130308A19Rik |
G |
A |
4: 59,690,846 (GRCm39) |
A227T |
probably benign |
Het |
F13b |
T |
A |
1: 139,445,098 (GRCm39) |
|
probably benign |
Het |
Hipk3 |
T |
C |
2: 104,263,517 (GRCm39) |
N933D |
possibly damaging |
Het |
Mmp27 |
T |
C |
9: 7,578,900 (GRCm39) |
|
probably benign |
Het |
Nod1 |
C |
T |
6: 54,914,349 (GRCm39) |
V815I |
probably benign |
Het |
Or2a5 |
T |
A |
6: 42,873,568 (GRCm39) |
F61Y |
probably damaging |
Het |
Or2ag15 |
T |
A |
7: 106,340,364 (GRCm39) |
Y259F |
probably damaging |
Het |
Or3a1d |
C |
T |
11: 74,238,255 (GRCm39) |
V52I |
probably benign |
Het |
Or51ab3 |
C |
A |
7: 103,201,064 (GRCm39) |
A24E |
probably damaging |
Het |
Or51h1 |
T |
A |
7: 102,308,555 (GRCm39) |
S176T |
probably damaging |
Het |
Or52k2 |
T |
A |
7: 102,253,564 (GRCm39) |
M1K |
probably null |
Het |
Pms1 |
T |
A |
1: 53,314,410 (GRCm39) |
E45V |
possibly damaging |
Het |
Prkcsh |
T |
C |
9: 21,917,861 (GRCm39) |
S126P |
possibly damaging |
Het |
Pros1 |
A |
T |
16: 62,730,408 (GRCm39) |
L299F |
probably damaging |
Het |
Slc15a2 |
A |
T |
16: 36,572,242 (GRCm39) |
Y676* |
probably null |
Het |
Tenm2 |
A |
C |
11: 35,915,450 (GRCm39) |
V2028G |
probably damaging |
Het |
Trpa1 |
T |
C |
1: 14,950,501 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Scrn1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00755:Scrn1
|
APN |
6 |
54,497,694 (GRCm39) |
missense |
possibly damaging |
0.92 |
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 |
2013-04-17 |