Incidental Mutation 'R1250:Prss59'
| ID |
151721 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prss59
|
| Ensembl Gene |
ENSMUSG00000029883 |
| Gene Name |
serine protease 59 |
| Synonyms |
Tryx5, 1700074P13Rik |
| MMRRC Submission |
039317-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.049)
|
| Stock # |
R1250 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
40897371-40917491 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 40902909 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116538
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031935]
[ENSMUST00000122181]
[ENSMUST00000136499]
|
| AlphaFold |
Q9D9G7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000031935
|
| SMART Domains |
Protein: ENSMUSP00000031935
Gene: ENSMUSG00000029883
| Domain | Start | End | E-Value | Type |
|---|
|
Tryp_SPc
|
24 |
244 |
4.27e-19 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000122181
|
| SMART Domains |
Protein: ENSMUSP00000112987
Gene: ENSMUSG00000029883
| Domain | Start | End | E-Value | Type |
|---|
|
Tryp_SPc
|
24 |
244 |
4.27e-19 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000136499
|
| SMART Domains |
Protein: ENSMUSP00000116538
Gene: ENSMUSG00000029883
| Domain | Start | End | E-Value | Type |
|---|
|
Tryp_SPc
|
24 |
174 |
6.08e-5 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(1) : Targeted(1)
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aptx |
T |
A |
4: 40,693,447 (GRCm39) |
E162D |
probably benign |
Het |
| Cdhr4 |
A |
T |
9: 107,874,715 (GRCm39) |
Q20L |
probably damaging |
Het |
| Dlk1 |
A |
T |
12: 109,425,744 (GRCm39) |
T206S |
probably damaging |
Het |
| Gabrr2 |
T |
C |
4: 33,063,273 (GRCm39) |
L32P |
probably benign |
Het |
| Gjb3 |
G |
A |
4: 127,220,224 (GRCm39) |
R103W |
probably damaging |
Het |
| Kntc1 |
T |
A |
5: 123,922,262 (GRCm39) |
S954T |
possibly damaging |
Het |
| Krt28 |
A |
G |
11: 99,257,648 (GRCm39) |
|
probably null |
Het |
| Lingo3 |
T |
C |
10: 80,670,605 (GRCm39) |
T442A |
probably benign |
Het |
| Map3k5 |
G |
A |
10: 19,986,521 (GRCm39) |
A912T |
possibly damaging |
Het |
| Msantd3 |
C |
A |
4: 48,552,789 (GRCm39) |
P126Q |
probably damaging |
Het |
| Nek10 |
T |
C |
14: 14,853,887 (GRCm38) |
S358P |
probably damaging |
Het |
| Prl2c2 |
G |
C |
13: 13,176,786 (GRCm39) |
T47R |
probably damaging |
Het |
| Qtrt1 |
C |
T |
9: 21,330,844 (GRCm39) |
T324M |
probably benign |
Het |
| Rag2 |
A |
G |
2: 101,460,784 (GRCm39) |
S365G |
probably damaging |
Het |
| Slc6a2 |
C |
A |
8: 93,719,491 (GRCm39) |
T402K |
probably benign |
Het |
| Slc9b1 |
T |
C |
3: 135,054,531 (GRCm39) |
M1T |
probably null |
Het |
| Ttn |
A |
G |
2: 76,720,904 (GRCm39) |
|
probably benign |
Het |
| Vmn1r31 |
A |
G |
6: 58,449,643 (GRCm39) |
V74A |
probably benign |
Het |
| Zkscan3 |
A |
G |
13: 21,572,694 (GRCm39) |
F313L |
probably benign |
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 |
|
|
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 |
|
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'- GCTTCCCTGCACCAGTATCATGAG -3'
(R):5'- AATCCGACTGGGAGTTTACCGACC -3'
Sequencing Primer
(F):5'- GAGTTTATCCTGTCACCTCCTGG -3'
(R):5'- GGAGTTTACCGACCCAACATC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation