Incidental Mutation 'IGL03279:Scrn1'
| ID |
415534 |
| 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 # |
IGL03279
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
T |
A |
11: 119,904,504 (GRCm39) |
D224V |
probably damaging |
Het |
| Abca4 |
C |
A |
3: 121,935,381 (GRCm39) |
N1526K |
probably benign |
Het |
| Aif1 |
T |
A |
17: 35,390,523 (GRCm39) |
K76* |
probably null |
Het |
| Arap2 |
A |
G |
5: 62,779,253 (GRCm39) |
S1446P |
probably damaging |
Het |
| Cyb5rl |
A |
T |
4: 106,941,325 (GRCm39) |
E250V |
possibly damaging |
Het |
| Dock3 |
T |
C |
9: 106,788,447 (GRCm39) |
|
probably benign |
Het |
| Dppa2 |
A |
G |
16: 48,132,028 (GRCm39) |
T42A |
possibly damaging |
Het |
| Drosha |
C |
T |
15: 12,859,478 (GRCm39) |
P562L |
probably benign |
Het |
| Egfl7 |
C |
A |
2: 26,480,719 (GRCm39) |
H126N |
probably benign |
Het |
| Gm5852 |
T |
C |
3: 93,634,584 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr161 |
T |
C |
1: 165,138,098 (GRCm39) |
F228S |
probably damaging |
Het |
| Grid1 |
T |
A |
14: 34,667,722 (GRCm39) |
M83K |
probably damaging |
Het |
| Gsdma2 |
T |
C |
11: 98,548,549 (GRCm39) |
S434P |
unknown |
Het |
| Hao2 |
T |
A |
3: 98,787,712 (GRCm39) |
N239I |
possibly damaging |
Het |
| Hsd17b14 |
A |
T |
7: 45,215,617 (GRCm39) |
I206F |
possibly damaging |
Het |
| Kansl1l |
A |
T |
1: 66,774,825 (GRCm39) |
V667E |
probably damaging |
Het |
| Kdm3a |
T |
C |
6: 71,588,659 (GRCm39) |
D450G |
probably benign |
Het |
| Lmo7 |
C |
A |
14: 102,137,944 (GRCm39) |
A882E |
probably benign |
Het |
| P4ha3 |
A |
G |
7: 99,949,893 (GRCm39) |
Y254C |
probably damaging |
Het |
| Pcdh15 |
A |
G |
10: 74,152,904 (GRCm39) |
Y408C |
probably damaging |
Het |
| Pglyrp3 |
T |
C |
3: 91,933,834 (GRCm39) |
Y160H |
probably damaging |
Het |
| Pnma5 |
G |
A |
X: 72,079,605 (GRCm39) |
T359I |
probably benign |
Het |
| Ptbp3 |
A |
T |
4: 59,476,937 (GRCm39) |
H440Q |
possibly damaging |
Het |
| Rbx1 |
A |
G |
15: 81,352,399 (GRCm39) |
N41S |
probably damaging |
Het |
| Rpl3 |
G |
A |
15: 79,962,560 (GRCm39) |
T340I |
probably benign |
Het |
| Sema6a |
A |
T |
18: 47,433,157 (GRCm39) |
C91* |
probably null |
Het |
| Slco6d1 |
T |
A |
1: 98,394,405 (GRCm39) |
V363E |
probably damaging |
Het |
| Stk38 |
A |
G |
17: 29,203,179 (GRCm39) |
|
probably benign |
Het |
| Tanc2 |
G |
A |
11: 105,803,918 (GRCm39) |
|
probably null |
Het |
| Thada |
A |
G |
17: 84,742,988 (GRCm39) |
F812S |
probably benign |
Het |
| Tubb4b-ps1 |
A |
G |
5: 7,229,630 (GRCm39) |
|
probably benign |
Het |
| Veph1 |
T |
C |
3: 66,162,443 (GRCm39) |
T72A |
probably damaging |
Het |
| Vps52 |
T |
A |
17: 34,176,848 (GRCm39) |
D67E |
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 |
|
|
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