Incidental Mutation 'IGL01694:Prss40'
ID |
104205 |
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 # |
IGL01694
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
34583049-34600024 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 34595178 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 101
(I101F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140885
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047840]
[ENSMUST00000115071]
[ENSMUST00000190790]
|
AlphaFold |
A6H6T1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000047840
AA Change: I219F
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000045118 Gene: ENSMUSG00000037529 AA Change: I219F
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 |
probably benign
Transcript: ENSMUST00000115071
|
SMART Domains |
Protein: ENSMUSP00000110723 Gene: ENSMUSG00000037529
Domain | Start | End | E-Value | Type |
Tryp_SPc
|
1 |
146 |
8.36e-5 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000190790
AA Change: I101F
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000140885 Gene: ENSMUSG00000037529 AA Change: I101F
Domain | Start | End | E-Value | Type |
Tryp_SPc
|
4 |
145 |
2.3e-7 |
SMART |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930474N05Rik |
A |
G |
14: 35,818,659 (GRCm39) |
*219W |
probably null |
Het |
Abi1 |
G |
A |
2: 22,850,725 (GRCm39) |
T238M |
probably damaging |
Het |
Agbl2 |
C |
T |
2: 90,631,418 (GRCm39) |
L259F |
probably damaging |
Het |
Cacna1g |
T |
A |
11: 94,319,938 (GRCm39) |
I1413F |
probably damaging |
Het |
Ddx21 |
T |
A |
10: 62,434,430 (GRCm39) |
K110* |
probably null |
Het |
Dnm1l |
A |
T |
16: 16,134,515 (GRCm39) |
I463N |
probably benign |
Het |
Dst |
C |
A |
1: 34,227,241 (GRCm39) |
H1286Q |
probably benign |
Het |
Elmo2 |
A |
T |
2: 165,156,693 (GRCm39) |
N67K |
probably benign |
Het |
Eps8l3 |
G |
A |
3: 107,799,624 (GRCm39) |
C578Y |
probably damaging |
Het |
Fam83b |
T |
A |
9: 76,398,272 (GRCm39) |
I944F |
probably benign |
Het |
Itga10 |
A |
T |
3: 96,559,833 (GRCm39) |
D496V |
probably damaging |
Het |
Lama2 |
T |
G |
10: 26,882,738 (GRCm39) |
K2608N |
possibly damaging |
Het |
Lap3 |
T |
A |
5: 45,655,937 (GRCm39) |
|
probably null |
Het |
Madd |
T |
C |
2: 90,988,320 (GRCm39) |
|
probably benign |
Het |
Mdh1b |
T |
A |
1: 63,750,265 (GRCm39) |
|
probably benign |
Het |
Ncapg2 |
G |
A |
12: 116,370,850 (GRCm39) |
|
probably benign |
Het |
Opalin |
A |
G |
19: 41,052,239 (GRCm39) |
|
probably benign |
Het |
Or4e2 |
A |
G |
14: 52,688,041 (GRCm39) |
N57S |
probably benign |
Het |
Plxna3 |
T |
A |
X: 73,382,114 (GRCm39) |
D1291E |
probably damaging |
Het |
Rpl5 |
T |
C |
5: 108,055,106 (GRCm39) |
Y253H |
probably benign |
Het |
Sephs2 |
A |
G |
7: 126,872,259 (GRCm39) |
I278T |
probably benign |
Het |
Slc25a34 |
G |
A |
4: 141,349,564 (GRCm39) |
A197V |
probably benign |
Het |
Slco6d1 |
C |
T |
1: 98,427,570 (GRCm39) |
R634W |
probably damaging |
Het |
Smarca4 |
C |
A |
9: 21,577,166 (GRCm39) |
A871D |
probably damaging |
Het |
Speer2 |
C |
T |
16: 69,655,000 (GRCm39) |
S155N |
probably damaging |
Het |
Speer2 |
T |
A |
16: 69,655,001 (GRCm39) |
S155C |
probably damaging |
Het |
Spink12 |
T |
A |
18: 44,240,827 (GRCm39) |
V71E |
probably damaging |
Het |
Tecta |
T |
C |
9: 42,278,475 (GRCm39) |
D1011G |
possibly damaging |
Het |
Tmtc4 |
G |
A |
14: 123,210,624 (GRCm39) |
T78I |
possibly damaging |
Het |
Tub |
T |
C |
7: 108,620,243 (GRCm39) |
|
probably benign |
Het |
Vps13c |
T |
A |
9: 67,802,631 (GRCm39) |
V644D |
probably damaging |
Het |
Zfp7 |
C |
T |
15: 76,774,995 (GRCm39) |
Q346* |
probably null |
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 |
|
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 |
2014-01-21 |