Incidental Mutation 'IGL03151:Prss59'
ID |
411105 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Prss59
|
Ensembl Gene |
ENSMUSG00000029883 |
Gene Name |
serine protease 59 |
Synonyms |
Tryx5, 1700074P13Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.051)
|
Stock # |
IGL03151
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
40897371-40917491 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 40902946 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 142
(F142S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112987
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031935]
[ENSMUST00000122181]
[ENSMUST00000136499]
|
AlphaFold |
Q9D9G7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031935
AA Change: F142S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000031935 Gene: ENSMUSG00000029883 AA Change: F142S
Domain | Start | End | E-Value | Type |
Tryp_SPc
|
24 |
244 |
4.27e-19 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000122181
AA Change: F142S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000112987 Gene: ENSMUSG00000029883 AA Change: F142S
Domain | Start | End | E-Value | Type |
Tryp_SPc
|
24 |
244 |
4.27e-19 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136499
AA Change: F142S
PolyPhen 2
Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000116538 Gene: ENSMUSG00000029883 AA Change: F142S
Domain | Start | End | E-Value | Type |
Tryp_SPc
|
24 |
174 |
6.08e-5 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(1) : Targeted(1)
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot1 |
G |
A |
12: 84,061,326 (GRCm39) |
A211T |
probably damaging |
Het |
Ampd1 |
T |
C |
3: 102,999,786 (GRCm39) |
|
probably null |
Het |
Armc3 |
T |
G |
2: 19,243,509 (GRCm39) |
L75R |
probably damaging |
Het |
Atp9b |
T |
C |
18: 80,820,065 (GRCm39) |
D573G |
probably benign |
Het |
Baz1a |
T |
A |
12: 54,955,934 (GRCm39) |
|
probably null |
Het |
C1ra |
A |
T |
6: 124,496,730 (GRCm39) |
I389F |
probably benign |
Het |
Ccdc87 |
T |
A |
19: 4,891,585 (GRCm39) |
N692K |
probably benign |
Het |
Ccr9 |
A |
G |
9: 123,603,638 (GRCm39) |
|
probably benign |
Het |
Ces4a |
G |
T |
8: 105,874,829 (GRCm39) |
|
probably null |
Het |
Dazap1 |
G |
A |
10: 80,116,754 (GRCm39) |
|
probably benign |
Het |
Dock5 |
A |
G |
14: 68,103,516 (GRCm39) |
Y45H |
probably damaging |
Het |
Eloa |
A |
T |
4: 135,737,732 (GRCm39) |
Y409* |
probably null |
Het |
Fam170a |
A |
G |
18: 50,414,708 (GRCm39) |
E118G |
probably damaging |
Het |
Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
Glra1 |
C |
T |
11: 55,418,206 (GRCm39) |
V180I |
probably damaging |
Het |
Il17rb |
T |
C |
14: 29,728,810 (GRCm39) |
T28A |
probably benign |
Het |
Ints9 |
T |
A |
14: 65,269,789 (GRCm39) |
V493E |
possibly damaging |
Het |
Kcnq5 |
C |
T |
1: 21,605,293 (GRCm39) |
C204Y |
probably damaging |
Het |
Npc1 |
A |
T |
18: 12,352,332 (GRCm39) |
N122K |
probably benign |
Het |
Or2b4 |
G |
A |
17: 38,116,159 (GRCm39) |
G41D |
probably damaging |
Het |
Podnl1 |
G |
A |
8: 84,858,818 (GRCm39) |
V548I |
probably benign |
Het |
Prss21 |
A |
G |
17: 24,088,376 (GRCm39) |
T114A |
probably damaging |
Het |
Rab10 |
G |
A |
12: 3,299,812 (GRCm39) |
T193M |
probably benign |
Het |
Serpini1 |
T |
A |
3: 75,520,603 (GRCm39) |
S67T |
probably benign |
Het |
Slc35b1 |
T |
C |
11: 95,281,212 (GRCm39) |
|
probably null |
Het |
Sorbs2 |
A |
T |
8: 46,252,750 (GRCm39) |
H388L |
probably benign |
Het |
Tfap2c |
T |
A |
2: 172,399,110 (GRCm39) |
C427* |
probably null |
Het |
Trappc14 |
A |
G |
5: 138,260,934 (GRCm39) |
L237S |
possibly damaging |
Het |
Ttn |
G |
T |
2: 76,632,732 (GRCm39) |
F14107L |
probably damaging |
Het |
Upf1 |
G |
T |
8: 70,788,037 (GRCm39) |
T774K |
probably damaging |
Het |
Vmn1r170 |
G |
A |
7: 23,306,002 (GRCm39) |
V135M |
probably benign |
Het |
Vmn2r14 |
C |
T |
5: 109,364,260 (GRCm39) |
C552Y |
probably damaging |
Het |
Zfp367 |
A |
G |
13: 64,293,445 (GRCm39) |
I147T |
probably damaging |
Het |
Zfp952 |
T |
C |
17: 33,221,982 (GRCm39) |
S116P |
probably benign |
Het |
|
Other mutations in Prss59 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0041:Prss59
|
UTSW |
6 |
40,903,042 (GRCm39) |
nonsense |
probably null |
|
R0041:Prss59
|
UTSW |
6 |
40,903,042 (GRCm39) |
nonsense |
probably null |
|
R0686:Prss59
|
UTSW |
6 |
40,905,452 (GRCm39) |
missense |
probably damaging |
0.99 |
R0799:Prss59
|
UTSW |
6 |
40,905,533 (GRCm39) |
missense |
probably damaging |
0.97 |
R1250:Prss59
|
UTSW |
6 |
40,902,909 (GRCm39) |
critical splice donor site |
probably null |
|
R1499:Prss59
|
UTSW |
6 |
40,898,652 (GRCm39) |
missense |
probably benign |
0.26 |
R1678:Prss59
|
UTSW |
6 |
40,906,453 (GRCm39) |
start gained |
probably benign |
|
R1755:Prss59
|
UTSW |
6 |
40,903,096 (GRCm39) |
missense |
probably damaging |
0.99 |
R1891:Prss59
|
UTSW |
6 |
40,902,967 (GRCm39) |
missense |
possibly damaging |
0.73 |
R3160:Prss59
|
UTSW |
6 |
40,903,003 (GRCm39) |
missense |
probably benign |
0.05 |
R3162:Prss59
|
UTSW |
6 |
40,903,003 (GRCm39) |
missense |
probably benign |
0.05 |
R4194:Prss59
|
UTSW |
6 |
40,898,005 (GRCm39) |
missense |
probably damaging |
1.00 |
R4750:Prss59
|
UTSW |
6 |
40,897,955 (GRCm39) |
missense |
probably damaging |
1.00 |
R6197:Prss59
|
UTSW |
6 |
40,897,939 (GRCm39) |
missense |
probably benign |
0.05 |
R6217:Prss59
|
UTSW |
6 |
40,903,019 (GRCm39) |
missense |
possibly damaging |
0.88 |
R6394:Prss59
|
UTSW |
6 |
40,898,726 (GRCm39) |
nonsense |
probably null |
|
R7966:Prss59
|
UTSW |
6 |
40,903,022 (GRCm39) |
missense |
probably benign |
0.02 |
R7991:Prss59
|
UTSW |
6 |
40,905,444 (GRCm39) |
critical splice donor site |
probably null |
|
R8937:Prss59
|
UTSW |
6 |
40,902,999 (GRCm39) |
nonsense |
probably null |
|
R8983:Prss59
|
UTSW |
6 |
40,897,934 (GRCm39) |
missense |
possibly damaging |
0.87 |
R9354:Prss59
|
UTSW |
6 |
40,905,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |