Incidental Mutation 'IGL01298:Prss40'
| ID |
73196 |
| 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 # |
IGL01298
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
34583049-34600024 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 34599847 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 47
(I47L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045118
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047840]
[ENSMUST00000115071]
[ENSMUST00000190790]
|
| AlphaFold |
A6H6T1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047840
AA Change: I47L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000045118
Gene: ENSMUSG00000037529
AA Change: I47L
| 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: I47L
|
| SMART Domains |
Protein: ENSMUSP00000110723
Gene: ENSMUSG00000037529
AA Change: I47L
| Domain | Start | End | E-Value | Type |
|---|
|
Tryp_SPc
|
1 |
146 |
8.36e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190790
|
| SMART Domains |
Protein: ENSMUSP00000140885
Gene: ENSMUSG00000037529
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adora2a |
G |
T |
10: 75,169,326 (GRCm39) |
W263C |
probably damaging |
Het |
| Agtpbp1 |
G |
A |
13: 59,652,040 (GRCm39) |
H424Y |
possibly damaging |
Het |
| Angpt2 |
T |
G |
8: 18,760,544 (GRCm39) |
N186T |
probably benign |
Het |
| Ank2 |
A |
G |
3: 126,753,369 (GRCm39) |
V304A |
possibly damaging |
Het |
| Atg3 |
T |
C |
16: 44,992,036 (GRCm39) |
M88T |
possibly damaging |
Het |
| Baz1a |
G |
T |
12: 55,001,594 (GRCm39) |
P142Q |
probably damaging |
Het |
| Btbd1 |
G |
T |
7: 81,444,055 (GRCm39) |
|
probably null |
Het |
| Cacnb3 |
T |
C |
15: 98,537,734 (GRCm39) |
Y70H |
probably damaging |
Het |
| Cd4 |
G |
A |
6: 124,856,341 (GRCm39) |
T50I |
probably benign |
Het |
| Cyp7a1 |
A |
T |
4: 6,275,517 (GRCm39) |
W19R |
probably damaging |
Het |
| Dock10 |
T |
A |
1: 80,508,962 (GRCm39) |
I1610F |
probably damaging |
Het |
| Gm11444 |
C |
A |
11: 85,738,920 (GRCm39) |
D58Y |
unknown |
Het |
| Gm7168 |
A |
T |
17: 14,170,120 (GRCm39) |
T496S |
probably benign |
Het |
| Gpc5 |
A |
G |
14: 115,636,600 (GRCm39) |
S428G |
probably benign |
Het |
| Haus8 |
T |
C |
8: 71,705,757 (GRCm39) |
E309G |
probably damaging |
Het |
| Ice1 |
A |
G |
13: 70,753,023 (GRCm39) |
L1021P |
possibly damaging |
Het |
| Krtap14 |
A |
T |
16: 88,622,615 (GRCm39) |
H121Q |
probably benign |
Het |
| Nwd1 |
T |
C |
8: 73,388,959 (GRCm39) |
V170A |
probably benign |
Het |
| Or1j10 |
T |
A |
2: 36,267,460 (GRCm39) |
M224K |
probably benign |
Het |
| Or6c3b |
T |
C |
10: 129,527,898 (GRCm39) |
Y4C |
probably damaging |
Het |
| Or8g24 |
G |
A |
9: 38,990,020 (GRCm39) |
T7I |
possibly damaging |
Het |
| Pfpl |
T |
C |
19: 12,406,037 (GRCm39) |
M96T |
possibly damaging |
Het |
| Pramel5 |
A |
G |
4: 143,997,732 (GRCm39) |
|
probably benign |
Het |
| Proc |
T |
C |
18: 32,256,605 (GRCm39) |
N354S |
probably benign |
Het |
| Tmprss7 |
T |
C |
16: 45,484,538 (GRCm39) |
R541G |
probably benign |
Het |
| Togaram2 |
T |
C |
17: 72,023,508 (GRCm39) |
V788A |
possibly damaging |
Het |
| Trbv19 |
T |
C |
6: 41,155,838 (GRCm39) |
Y70H |
probably damaging |
Het |
| Ttk |
C |
T |
9: 83,747,195 (GRCm39) |
S678L |
probably benign |
Het |
| Vmn2r85 |
T |
C |
10: 130,254,690 (GRCm39) |
T665A |
probably benign |
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 |
|
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 |
|
IGL03393: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 |
2013-10-07 |
Incidental Mutation