Incidental Mutation 'IGL03393:Prss40'
ID |
421131 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Prss40
|
Ensembl Gene |
ENSMUSG00000037529 |
Gene Name |
serine protease 40 |
Synonyms |
Tesp2 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL03393
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
34583049-34600024 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 34597182 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glycine
at position 122
(V122G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045118
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047840]
[ENSMUST00000115071]
[ENSMUST00000190790]
|
AlphaFold |
A6H6T1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000047840
AA Change: V122G
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000045118 Gene: ENSMUSG00000037529 AA Change: V122G
Domain | Start | End | E-Value | Type |
low complexity region
|
10 |
24 |
N/A |
INTRINSIC |
Tryp_SPc
|
68 |
308 |
1.45e-71 |
SMART |
low complexity region
|
309 |
319 |
N/A |
INTRINSIC |
low complexity region
|
354 |
365 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000115071
AA Change: S132A
|
SMART Domains |
Protein: ENSMUSP00000110723 Gene: ENSMUSG00000037529 AA Change: S132A
Domain | Start | End | E-Value | Type |
Tryp_SPc
|
1 |
146 |
8.36e-5 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000190790
AA Change: V4G
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000140885 Gene: ENSMUSG00000037529 AA Change: V4G
Domain | Start | End | E-Value | Type |
Tryp_SPc
|
4 |
145 |
2.3e-7 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700113H08Rik |
A |
G |
10: 86,909,902 (GRCm39) |
|
probably benign |
Het |
Adamts5 |
G |
T |
16: 85,665,083 (GRCm39) |
S627Y |
probably damaging |
Het |
Allc |
G |
A |
12: 28,610,010 (GRCm39) |
R196C |
probably damaging |
Het |
Ccdc65 |
A |
C |
15: 98,618,568 (GRCm39) |
E241A |
probably benign |
Het |
Dclk3 |
T |
C |
9: 111,317,741 (GRCm39) |
|
probably benign |
Het |
Fzd4 |
T |
C |
7: 89,056,505 (GRCm39) |
V184A |
probably benign |
Het |
Gfap |
T |
A |
11: 102,784,083 (GRCm39) |
|
probably null |
Het |
Gpr149 |
A |
G |
3: 62,511,366 (GRCm39) |
V211A |
probably benign |
Het |
Gprc6a |
A |
G |
10: 51,491,355 (GRCm39) |
I623T |
probably damaging |
Het |
Gucy2c |
T |
C |
6: 136,696,665 (GRCm39) |
T687A |
probably benign |
Het |
Kcnc4 |
T |
G |
3: 107,355,243 (GRCm39) |
M402L |
possibly damaging |
Het |
Ktn1 |
T |
C |
14: 47,928,391 (GRCm39) |
L584S |
probably damaging |
Het |
Mrgprb2 |
C |
T |
7: 48,202,650 (GRCm39) |
S25N |
probably benign |
Het |
Muc5b |
T |
A |
7: 141,417,875 (GRCm39) |
V3607E |
probably benign |
Het |
Or4c58 |
C |
A |
2: 89,674,913 (GRCm39) |
V135L |
probably benign |
Het |
Or6c3b |
T |
C |
10: 129,527,147 (GRCm39) |
I254M |
probably damaging |
Het |
Otx2 |
A |
G |
14: 48,898,781 (GRCm39) |
I75T |
probably damaging |
Het |
Pabpc4l |
T |
C |
3: 46,400,972 (GRCm39) |
D224G |
probably damaging |
Het |
Peg3 |
A |
T |
7: 6,710,648 (GRCm39) |
C1525S |
probably damaging |
Het |
Polq |
A |
T |
16: 36,865,156 (GRCm39) |
L669F |
probably damaging |
Het |
Rims2 |
A |
G |
15: 39,326,009 (GRCm39) |
|
probably null |
Het |
Rrp12 |
A |
T |
19: 41,860,232 (GRCm39) |
M997K |
possibly damaging |
Het |
Sbno2 |
G |
A |
10: 79,902,735 (GRCm39) |
R414W |
probably damaging |
Het |
Scn1a |
T |
C |
2: 66,148,362 (GRCm39) |
D41G |
probably benign |
Het |
Serpinb1c |
A |
T |
13: 33,066,044 (GRCm39) |
D300E |
probably damaging |
Het |
Timeless |
G |
A |
10: 128,087,924 (GRCm39) |
D1165N |
probably damaging |
Het |
Tnpo1 |
T |
G |
13: 99,024,981 (GRCm39) |
K66N |
probably damaging |
Het |
Trappc11 |
A |
T |
8: 47,963,912 (GRCm39) |
N629K |
possibly damaging |
Het |
Ubr4 |
T |
A |
4: 139,179,989 (GRCm39) |
L255M |
probably damaging |
Het |
Vmn1r10 |
T |
A |
6: 57,091,042 (GRCm39) |
Y211* |
probably null |
Het |
Vmn2r76 |
T |
G |
7: 85,879,034 (GRCm39) |
N422T |
probably benign |
Het |
Xylt1 |
C |
A |
7: 117,192,940 (GRCm39) |
N415K |
probably damaging |
Het |
Zfp786 |
A |
T |
6: 47,798,458 (GRCm39) |
V160E |
possibly damaging |
Het |
|
Other mutations in Prss40 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00647:Prss40
|
APN |
1 |
34,591,620 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01298:Prss40
|
APN |
1 |
34,599,847 (GRCm39) |
missense |
probably benign |
|
IGL01694:Prss40
|
APN |
1 |
34,595,178 (GRCm39) |
missense |
probably benign |
0.02 |
IGL03030:Prss40
|
APN |
1 |
34,597,182 (GRCm39) |
missense |
probably damaging |
0.99 |
R0294:Prss40
|
UTSW |
1 |
34,595,162 (GRCm39) |
missense |
possibly damaging |
0.58 |
R1450:Prss40
|
UTSW |
1 |
34,595,178 (GRCm39) |
missense |
probably benign |
0.02 |
R1987:Prss40
|
UTSW |
1 |
34,597,095 (GRCm39) |
missense |
possibly damaging |
0.75 |
R2356:Prss40
|
UTSW |
1 |
34,598,984 (GRCm39) |
nonsense |
probably null |
|
R2395:Prss40
|
UTSW |
1 |
34,598,986 (GRCm39) |
missense |
possibly damaging |
0.86 |
R4042:Prss40
|
UTSW |
1 |
34,599,960 (GRCm39) |
nonsense |
probably null |
|
R4043:Prss40
|
UTSW |
1 |
34,599,960 (GRCm39) |
nonsense |
probably null |
|
R4044:Prss40
|
UTSW |
1 |
34,599,960 (GRCm39) |
nonsense |
probably null |
|
R4232:Prss40
|
UTSW |
1 |
34,599,873 (GRCm39) |
missense |
probably benign |
0.07 |
R5418:Prss40
|
UTSW |
1 |
34,599,840 (GRCm39) |
missense |
probably benign |
0.00 |
R5539:Prss40
|
UTSW |
1 |
34,591,760 (GRCm39) |
makesense |
probably null |
|
R5719:Prss40
|
UTSW |
1 |
34,591,598 (GRCm39) |
utr 3 prime |
probably benign |
|
R6365:Prss40
|
UTSW |
1 |
34,591,598 (GRCm39) |
utr 3 prime |
probably benign |
|
R7002:Prss40
|
UTSW |
1 |
34,591,481 (GRCm39) |
splice site |
probably null |
|
R7366:Prss40
|
UTSW |
1 |
34,598,952 (GRCm39) |
nonsense |
probably null |
|
R7521:Prss40
|
UTSW |
1 |
34,597,090 (GRCm39) |
missense |
probably benign |
0.03 |
R7777:Prss40
|
UTSW |
1 |
34,591,846 (GRCm39) |
nonsense |
probably null |
|
R8138:Prss40
|
UTSW |
1 |
34,597,080 (GRCm39) |
missense |
probably damaging |
0.99 |
R8360:Prss40
|
UTSW |
1 |
34,599,876 (GRCm39) |
missense |
probably benign |
0.00 |
R8542:Prss40
|
UTSW |
1 |
34,596,967 (GRCm39) |
missense |
probably damaging |
1.00 |
R8904:Prss40
|
UTSW |
1 |
34,595,045 (GRCm39) |
splice site |
probably benign |
|
R9399:Prss40
|
UTSW |
1 |
34,591,794 (GRCm39) |
missense |
probably damaging |
1.00 |
R9532:Prss40
|
UTSW |
1 |
34,597,106 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Prss40
|
UTSW |
1 |
34,598,860 (GRCm39) |
missense |
possibly damaging |
0.85 |
Z1177:Prss40
|
UTSW |
1 |
34,599,900 (GRCm39) |
nonsense |
probably null |
|
Z1177:Prss40
|
UTSW |
1 |
34,591,667 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2016-08-02 |