Incidental Mutation 'IGL03307:Scrn1'
| ID |
416420 |
| 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 # |
IGL03307
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
54478158-54543474 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 54525322 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 16
(R16*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118255
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019268]
[ENSMUST00000129744]
|
| AlphaFold |
Q9CZC8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000019268
AA Change: R16*
|
| SMART Domains |
Protein: ENSMUSP00000019268
Gene: ENSMUSG00000019124
AA Change: R16*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_C69
|
45 |
236 |
3.4e-10 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000129744
AA Change: R16*
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140235
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adck1 |
T |
C |
12: 88,425,823 (GRCm39) |
I417T |
possibly damaging |
Het |
| Arrdc1 |
A |
T |
2: 24,816,354 (GRCm39) |
I205N |
probably damaging |
Het |
| Atp6v1a |
A |
G |
16: 43,931,922 (GRCm39) |
V122A |
possibly damaging |
Het |
| Atp8a2 |
A |
G |
14: 60,253,321 (GRCm39) |
|
probably null |
Het |
| Cdh18 |
A |
G |
15: 23,226,872 (GRCm39) |
H111R |
probably damaging |
Het |
| Cpsf3 |
T |
A |
12: 21,346,715 (GRCm39) |
I196N |
possibly damaging |
Het |
| Cyp2b9 |
C |
T |
7: 25,898,476 (GRCm39) |
S277L |
probably benign |
Het |
| Grik3 |
T |
C |
4: 125,535,347 (GRCm39) |
M248T |
possibly damaging |
Het |
| Gusb |
T |
C |
5: 130,028,872 (GRCm39) |
*145W |
probably null |
Het |
| Il18rap |
T |
C |
1: 40,582,227 (GRCm39) |
Y383H |
probably benign |
Het |
| Lama4 |
T |
C |
10: 38,893,379 (GRCm39) |
V162A |
probably benign |
Het |
| Macc1 |
A |
T |
12: 119,410,155 (GRCm39) |
M308L |
probably benign |
Het |
| Or52s1b |
C |
T |
7: 102,822,623 (GRCm39) |
V74I |
probably benign |
Het |
| Or8g27 |
A |
T |
9: 39,129,309 (GRCm39) |
I219F |
probably benign |
Het |
| Postn |
A |
G |
3: 54,282,548 (GRCm39) |
D503G |
probably benign |
Het |
| Robo3 |
A |
T |
9: 37,333,860 (GRCm39) |
V658D |
probably damaging |
Het |
| Setd1b |
C |
A |
5: 123,286,734 (GRCm39) |
D593E |
unknown |
Het |
| Slc2a13 |
C |
T |
15: 91,160,317 (GRCm39) |
V546M |
probably damaging |
Het |
| Spock1 |
T |
C |
13: 57,577,160 (GRCm39) |
D423G |
probably null |
Het |
| Stox2 |
T |
C |
8: 47,647,065 (GRCm39) |
T132A |
probably damaging |
Het |
| Tle2 |
T |
C |
10: 81,426,074 (GRCm39) |
S703P |
probably damaging |
Het |
| Trgc1 |
A |
G |
13: 19,398,528 (GRCm39) |
|
probably benign |
Het |
| Ttc41 |
T |
C |
10: 86,580,304 (GRCm39) |
I750T |
possibly damaging |
Het |
| Vmn2r107 |
A |
T |
17: 20,577,038 (GRCm39) |
K345N |
probably benign |
Het |
| Vmn2r60 |
T |
C |
7: 41,765,971 (GRCm39) |
V26A |
probably benign |
Het |
| Vmn2r98 |
G |
A |
17: 19,286,242 (GRCm39) |
V247I |
possibly damaging |
Het |
| Zan |
A |
G |
5: 137,472,287 (GRCm39) |
V153A |
probably damaging |
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 |
|
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 |
|
|
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 |
2016-08-02 |
Incidental Mutation