Incidental Mutation 'IGL03251:Scrn1'
| ID |
414924 |
| 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 # |
IGL03251
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
T |
C |
7: 45,631,661 (GRCm39) |
|
probably benign |
Het |
| Cdkl2 |
A |
G |
5: 92,181,585 (GRCm39) |
I132T |
probably damaging |
Het |
| Ckap4 |
A |
T |
10: 84,364,469 (GRCm39) |
I198N |
probably damaging |
Het |
| Col6a3 |
C |
T |
1: 90,737,898 (GRCm39) |
R600H |
probably damaging |
Het |
| Dnah7a |
A |
G |
1: 53,686,433 (GRCm39) |
I239T |
probably benign |
Het |
| Ei24 |
A |
G |
9: 36,691,405 (GRCm39) |
*359R |
probably null |
Het |
| Elk3 |
A |
T |
10: 93,090,683 (GRCm39) |
|
probably null |
Het |
| Eps8l2 |
T |
A |
7: 140,922,875 (GRCm39) |
M46K |
probably damaging |
Het |
| Frem2 |
G |
T |
3: 53,479,729 (GRCm39) |
T1988N |
probably benign |
Het |
| Gm5431 |
T |
C |
11: 48,785,548 (GRCm39) |
K276E |
probably benign |
Het |
| Gm8220 |
T |
A |
14: 44,525,729 (GRCm39) |
C133S |
possibly damaging |
Het |
| Hectd2 |
T |
C |
19: 36,562,926 (GRCm39) |
L168P |
probably damaging |
Het |
| Hydin |
A |
T |
8: 111,217,228 (GRCm39) |
D1372V |
probably damaging |
Het |
| Isl1 |
T |
C |
13: 116,441,985 (GRCm39) |
S83G |
probably benign |
Het |
| Lrp1b |
A |
G |
2: 40,490,279 (GRCm39) |
I107T |
probably benign |
Het |
| Mlc1 |
A |
T |
15: 88,858,934 (GRCm39) |
V117D |
possibly damaging |
Het |
| Ndc1 |
A |
G |
4: 107,237,856 (GRCm39) |
E220G |
possibly damaging |
Het |
| Nlrp4b |
T |
A |
7: 10,448,427 (GRCm39) |
M210K |
probably benign |
Het |
| Or2z8 |
A |
T |
8: 72,811,920 (GRCm39) |
Y132F |
probably damaging |
Het |
| Plch1 |
T |
C |
3: 63,691,423 (GRCm39) |
E60G |
possibly damaging |
Het |
| Pld1 |
G |
A |
3: 28,142,814 (GRCm39) |
R674H |
probably benign |
Het |
| Ppp1r13l |
G |
A |
7: 19,102,794 (GRCm39) |
|
probably benign |
Het |
| Ppp2cb |
A |
T |
8: 34,100,679 (GRCm39) |
|
probably benign |
Het |
| Rchy1 |
G |
T |
5: 92,110,502 (GRCm39) |
A26D |
probably benign |
Het |
| Rrm1 |
T |
C |
7: 102,106,413 (GRCm39) |
F311L |
probably damaging |
Het |
| Slc24a4 |
T |
C |
12: 102,189,084 (GRCm39) |
L173P |
probably damaging |
Het |
| Srgap1 |
T |
C |
10: 121,640,826 (GRCm39) |
|
probably null |
Het |
| Tube1 |
T |
A |
10: 39,010,977 (GRCm39) |
|
probably benign |
Het |
| Utp20 |
C |
T |
10: 88,653,188 (GRCm39) |
|
probably null |
Het |
| Vmn2r55 |
T |
C |
7: 12,405,120 (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 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation