Incidental Mutation 'R0686:Prss59'
| ID |
61163 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prss59
|
| Ensembl Gene |
ENSMUSG00000029883 |
| Gene Name |
serine protease 59 |
| Synonyms |
Tryx5, 1700074P13Rik |
| MMRRC Submission |
038871-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.049)
|
| Stock # |
R0686 (G1)
|
| Quality Score |
115 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
40897371-40917491 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 40905452 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Phenylalanine
at position 68
(S68F)
|
| 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: S68F
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000031935
Gene: ENSMUSG00000029883
AA Change: S68F
| Domain | Start | End | E-Value | Type |
|---|
|
Tryp_SPc
|
24 |
244 |
4.27e-19 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000122181
AA Change: S68F
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000112987
Gene: ENSMUSG00000029883
AA Change: S68F
| Domain | Start | End | E-Value | Type |
|---|
|
Tryp_SPc
|
24 |
244 |
4.27e-19 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136499
AA Change: S68F
PolyPhen 2
Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000116538
Gene: ENSMUSG00000029883
AA Change: S68F
| Domain | Start | End | E-Value | Type |
|---|
|
Tryp_SPc
|
24 |
174 |
6.08e-5 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(1) : Targeted(1)
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700123K08Rik |
C |
T |
5: 138,562,799 (GRCm39) |
E42K |
possibly damaging |
Het |
| Arhgef12 |
A |
C |
9: 42,904,324 (GRCm39) |
L718R |
probably benign |
Het |
| Bsx |
T |
G |
9: 40,787,733 (GRCm39) |
S136A |
probably damaging |
Het |
| Ccne2 |
T |
A |
4: 11,197,220 (GRCm39) |
M174K |
possibly damaging |
Het |
| Ces1a |
A |
G |
8: 93,749,077 (GRCm39) |
Y445H |
probably damaging |
Het |
| Ckb |
A |
G |
12: 111,636,627 (GRCm39) |
V249A |
probably benign |
Het |
| Crybg2 |
TGGAGGAGGAGGAGGAGGAG |
TGGAGGAGGAGGAGGAG |
4: 133,801,837 (GRCm39) |
|
probably benign |
Het |
| Cyp2r1 |
T |
G |
7: 114,151,246 (GRCm39) |
M358L |
possibly damaging |
Het |
| Dnah10 |
T |
C |
5: 124,824,782 (GRCm39) |
I646T |
possibly damaging |
Het |
| Eeig2 |
G |
A |
3: 108,900,001 (GRCm39) |
R116C |
probably damaging |
Het |
| Eps8l1 |
T |
A |
7: 4,480,449 (GRCm39) |
D563E |
probably benign |
Het |
| Fhip1b |
G |
T |
7: 105,037,516 (GRCm39) |
L356I |
probably damaging |
Het |
| Fpr-rs4 |
A |
C |
17: 18,242,613 (GRCm39) |
I207L |
probably benign |
Het |
| Fus |
G |
A |
7: 127,571,935 (GRCm39) |
|
probably benign |
Het |
| Ireb2 |
A |
T |
9: 54,811,460 (GRCm39) |
I755L |
probably benign |
Het |
| Kctd9 |
A |
G |
14: 67,966,185 (GRCm39) |
T101A |
probably damaging |
Het |
| Lcor |
T |
A |
19: 41,570,811 (GRCm39) |
S1R |
possibly damaging |
Het |
| Ltbr |
T |
C |
6: 125,285,024 (GRCm39) |
D292G |
possibly damaging |
Het |
| Med1 |
G |
A |
11: 98,049,230 (GRCm39) |
T507I |
probably damaging |
Het |
| Msh3 |
G |
A |
13: 92,487,939 (GRCm39) |
P93S |
possibly damaging |
Het |
| Or2ag1 |
A |
T |
7: 106,313,585 (GRCm39) |
M101K |
probably damaging |
Het |
| Or8g37 |
A |
C |
9: 39,730,964 (GRCm39) |
T10P |
probably damaging |
Het |
| Paqr5 |
T |
G |
9: 61,880,076 (GRCm39) |
T59P |
probably benign |
Het |
| Pih1d1 |
T |
A |
7: 44,805,753 (GRCm39) |
L74* |
probably null |
Het |
| Prim2 |
T |
C |
1: 33,553,270 (GRCm39) |
T264A |
probably benign |
Het |
| Rasef |
A |
G |
4: 73,652,771 (GRCm39) |
S577P |
probably damaging |
Het |
| Simc1 |
T |
A |
13: 54,673,003 (GRCm39) |
S450R |
probably benign |
Het |
| Tdrd1 |
A |
T |
19: 56,844,483 (GRCm39) |
N796I |
probably damaging |
Het |
| Vmn1r214 |
T |
A |
13: 23,218,962 (GRCm39) |
I152N |
probably 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 |
|
|
R0041:Prss59
|
UTSW |
6 |
40,903,042 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGTAAGAGACTACTCAGCCTTGTTCCC -3'
(R):5'- GTAGCTAATACTCCCAAAGCCGTTCTG -3'
Sequencing Primer
(F):5'- acatcccacaccttgctc -3'
(R):5'- CAAAGCCGTTCTGAAAGAATATAAC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation