Incidental Mutation 'R0041:Prss59'
ID |
15633 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prss59
|
Ensembl Gene |
ENSMUSG00000029883 |
Gene Name |
serine protease 59 |
Synonyms |
Tryx5, 1700074P13Rik |
MMRRC Submission |
038335-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.051)
|
Stock # |
R0041 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
40897371-40917491 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 40903042 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Stop codon
at position 110
(L110*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116538
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031935]
[ENSMUST00000122181]
[ENSMUST00000136499]
|
AlphaFold |
Q9D9G7 |
Predicted Effect |
probably null
Transcript: ENSMUST00000031935
AA Change: L110*
|
SMART Domains |
Protein: ENSMUSP00000031935 Gene: ENSMUSG00000029883 AA Change: L110*
Domain | Start | End | E-Value | Type |
Tryp_SPc
|
24 |
244 |
4.27e-19 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000122181
AA Change: L110*
|
SMART Domains |
Protein: ENSMUSP00000112987 Gene: ENSMUSG00000029883 AA Change: L110*
Domain | Start | End | E-Value | Type |
Tryp_SPc
|
24 |
244 |
4.27e-19 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000136499
AA Change: L110*
|
SMART Domains |
Protein: ENSMUSP00000116538 Gene: ENSMUSG00000029883 AA Change: L110*
Domain | Start | End | E-Value | Type |
Tryp_SPc
|
24 |
174 |
6.08e-5 |
SMART |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 77.6%
- 3x: 65.6%
- 10x: 37.8%
- 20x: 19.1%
|
Validation Efficiency |
90% (47/52) |
Allele List at MGI |
All alleles(1) : Targeted(1)
|
Other mutations in this stock |
Total: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgra3 |
A |
G |
5: 50,117,901 (GRCm39) |
Y1216H |
probably benign |
Het |
Avpi1 |
C |
A |
19: 42,112,223 (GRCm39) |
E112* |
probably null |
Het |
Braf |
C |
T |
6: 39,617,413 (GRCm39) |
A534T |
probably damaging |
Het |
Cntnap5c |
C |
A |
17: 58,183,464 (GRCm39) |
Q57K |
probably benign |
Het |
Dlk1 |
G |
C |
12: 109,421,439 (GRCm39) |
G50A |
probably damaging |
Het |
Dtna |
C |
T |
18: 23,779,932 (GRCm39) |
|
probably benign |
Het |
Fancm |
T |
A |
12: 65,153,217 (GRCm39) |
C1224* |
probably null |
Het |
Gigyf2 |
A |
C |
1: 87,306,698 (GRCm39) |
R129S |
probably damaging |
Het |
Kcnk2 |
G |
T |
1: 189,027,888 (GRCm39) |
N122K |
probably benign |
Het |
Lrrc7 |
G |
A |
3: 157,869,897 (GRCm39) |
|
probably benign |
Het |
Msto1 |
A |
G |
3: 88,817,542 (GRCm39) |
S464P |
probably damaging |
Het |
Myh1 |
A |
C |
11: 67,099,904 (GRCm39) |
N605H |
possibly damaging |
Het |
Olfml1 |
A |
T |
7: 107,189,393 (GRCm39) |
I153L |
possibly damaging |
Het |
Plekhg1 |
T |
A |
10: 3,914,074 (GRCm39) |
N1265K |
probably benign |
Het |
Rlf |
T |
A |
4: 121,007,126 (GRCm39) |
H618L |
probably damaging |
Het |
Rock1 |
T |
C |
18: 10,140,240 (GRCm39) |
D117G |
probably damaging |
Het |
Serpinb6d |
A |
G |
13: 33,851,615 (GRCm39) |
D124G |
probably damaging |
Het |
Slco1a1 |
A |
G |
6: 141,864,185 (GRCm39) |
|
probably benign |
Het |
Swap70 |
A |
G |
7: 109,878,562 (GRCm39) |
K511E |
probably benign |
Het |
Synb |
T |
C |
14: 69,747,926 (GRCm39) |
T193A |
probably damaging |
Het |
Syt11 |
A |
G |
3: 88,655,210 (GRCm39) |
Y364H |
probably damaging |
Het |
Vcan |
T |
A |
13: 89,810,104 (GRCm39) |
H3229L |
probably damaging |
Het |
Wdr64 |
G |
A |
1: 175,554,037 (GRCm39) |
W189* |
probably null |
Het |
Zfp1001 |
A |
G |
2: 150,165,745 (GRCm39) |
I42V |
possibly damaging |
Het |
|
Other mutations in Prss59 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL03151:Prss59
|
APN |
6 |
40,902,946 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2012-12-21 |