Incidental Mutation 'IGL01687:Prss30'
ID |
103986 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Prss30
|
Ensembl Gene |
ENSMUSG00000024124 |
Gene Name |
serine protease 30 |
Synonyms |
Disp, Tmprss8, Disp1, 2010015P21Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.056)
|
Stock # |
IGL01687
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
24191100-24199540 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 24194106 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 17
(T17A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000024936
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024936]
[ENSMUST00000135549]
[ENSMUST00000147626]
[ENSMUST00000151448]
|
AlphaFold |
Q9QYZ9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000024936
AA Change: T17A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000024936 Gene: ENSMUSG00000024124 AA Change: T17A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
Tryp_SPc
|
36 |
272 |
2.07e-90 |
SMART |
low complexity region
|
281 |
294 |
N/A |
INTRINSIC |
low complexity region
|
297 |
307 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123584
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135549
|
SMART Domains |
Protein: ENSMUSP00000114293 Gene: ENSMUSG00000024124
Domain | Start | End | E-Value | Type |
low complexity region
|
14 |
23 |
N/A |
INTRINSIC |
Tryp_SPc
|
73 |
272 |
5.43e-53 |
SMART |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000147626
AA Change: T17A
|
SMART Domains |
Protein: ENSMUSP00000118063 Gene: ENSMUSG00000024124 AA Change: T17A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
SCOP:g1h8d.1
|
27 |
60 |
2e-6 |
SMART |
Blast:Tryp_SPc
|
27 |
61 |
3e-17 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151448
|
SMART Domains |
Protein: ENSMUSP00000117647 Gene: ENSMUSG00000024124
Domain | Start | End | E-Value | Type |
low complexity region
|
14 |
23 |
N/A |
INTRINSIC |
Tryp_SPc
|
73 |
212 |
9.69e-9 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 18 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
T |
A |
1: 71,306,769 (GRCm39) |
|
probably benign |
Het |
Cep290 |
C |
T |
10: 100,336,067 (GRCm39) |
T375M |
probably damaging |
Het |
Col1a2 |
A |
T |
6: 4,520,258 (GRCm39) |
R348* |
probably null |
Het |
Dph6 |
A |
T |
2: 114,475,259 (GRCm39) |
Y85* |
probably null |
Het |
Etl4 |
C |
T |
2: 20,534,898 (GRCm39) |
H118Y |
probably damaging |
Het |
Gprc5b |
A |
G |
7: 118,583,209 (GRCm39) |
F220S |
possibly damaging |
Het |
Larp4 |
A |
G |
15: 99,894,369 (GRCm39) |
T213A |
probably damaging |
Het |
Mfn1 |
T |
C |
3: 32,617,515 (GRCm39) |
|
probably benign |
Het |
Myo5a |
T |
C |
9: 75,063,531 (GRCm39) |
V579A |
probably benign |
Het |
Nol11 |
T |
C |
11: 107,077,695 (GRCm39) |
I65M |
probably damaging |
Het |
Or2k2 |
A |
T |
4: 58,785,047 (GRCm39) |
L225Q |
probably damaging |
Het |
Pcdh18 |
T |
C |
3: 49,707,982 (GRCm39) |
|
probably benign |
Het |
Rab11fip3 |
A |
G |
17: 26,286,956 (GRCm39) |
L399P |
probably damaging |
Het |
Slc44a2 |
T |
C |
9: 21,257,243 (GRCm39) |
V396A |
probably benign |
Het |
Tns3 |
A |
G |
11: 8,442,798 (GRCm39) |
S522P |
probably damaging |
Het |
Vmn2r94 |
A |
T |
17: 18,473,574 (GRCm39) |
V484E |
possibly damaging |
Het |
Zfp871 |
T |
A |
17: 32,994,618 (GRCm39) |
T167S |
probably benign |
Het |
Zmat3 |
C |
T |
3: 32,395,680 (GRCm39) |
E276K |
probably damaging |
Het |
|
Other mutations in Prss30 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00336:Prss30
|
APN |
17 |
24,192,695 (GRCm39) |
missense |
probably benign |
0.05 |
R1444:Prss30
|
UTSW |
17 |
24,192,712 (GRCm39) |
missense |
probably damaging |
1.00 |
R1662:Prss30
|
UTSW |
17 |
24,191,806 (GRCm39) |
missense |
possibly damaging |
0.68 |
R2061:Prss30
|
UTSW |
17 |
24,193,642 (GRCm39) |
start gained |
probably benign |
|
R4485:Prss30
|
UTSW |
17 |
24,192,130 (GRCm39) |
missense |
probably damaging |
1.00 |
R4849:Prss30
|
UTSW |
17 |
24,191,769 (GRCm39) |
missense |
probably benign |
0.00 |
R5305:Prss30
|
UTSW |
17 |
24,191,750 (GRCm39) |
missense |
probably benign |
0.00 |
R5853:Prss30
|
UTSW |
17 |
24,191,820 (GRCm39) |
missense |
probably damaging |
1.00 |
R8934:Prss30
|
UTSW |
17 |
24,192,628 (GRCm39) |
missense |
probably damaging |
1.00 |
X0057:Prss30
|
UTSW |
17 |
24,192,987 (GRCm39) |
missense |
probably benign |
0.00 |
Z1176:Prss30
|
UTSW |
17 |
24,193,560 (GRCm39) |
missense |
unknown |
|
Z1176:Prss30
|
UTSW |
17 |
24,193,558 (GRCm39) |
missense |
unknown |
|
|
Posted On |
2014-01-21 |