Incidental Mutation 'R4292:Prss58'
| ID |
323115 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prss58
|
| Ensembl Gene |
ENSMUSG00000051936 |
| Gene Name |
serine protease 58 |
| Synonyms |
BC048599 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.048)
|
| Stock # |
R4292 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
40872204-40877321 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 40874244 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 144
(D144G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069833
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063523]
|
| AlphaFold |
Q8BW11 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000063523
AA Change: D144G
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000069833
Gene: ENSMUSG00000051936
AA Change: D144G
| Domain | Start | End | E-Value | Type |
|---|
|
Tryp_SPc
|
22 |
234 |
4.49e-36 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the trypsin family of serine proteases. This gene and several related trypsinogen genes are localized to the T cell receptor beta locus on chromosome 7. This gene was previously described as a trypsinogen-like pseudogene, but it is now thought to be a protein-coding gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts9 |
T |
C |
6: 92,772,977 (GRCm39) |
K1232E |
possibly damaging |
Het |
| Angel1 |
A |
G |
12: 86,767,057 (GRCm39) |
Y440H |
probably damaging |
Het |
| Bclaf1 |
A |
G |
10: 20,199,524 (GRCm39) |
Q20R |
probably damaging |
Het |
| Bivm |
A |
T |
1: 44,177,793 (GRCm39) |
R364S |
probably damaging |
Het |
| Brwd1 |
G |
A |
16: 95,818,804 (GRCm39) |
P1343S |
probably damaging |
Het |
| Cckar |
A |
G |
5: 53,863,839 (GRCm39) |
S41P |
probably benign |
Het |
| Cep68 |
A |
T |
11: 20,190,079 (GRCm39) |
V311D |
probably damaging |
Het |
| Cip2a |
T |
A |
16: 48,833,612 (GRCm39) |
F571Y |
probably benign |
Het |
| Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
| Gcn1 |
G |
A |
5: 115,714,207 (GRCm39) |
A116T |
possibly damaging |
Het |
| Gucy1a1 |
A |
T |
3: 82,002,066 (GRCm39) |
F671Y |
possibly damaging |
Het |
| Hddc2 |
A |
T |
10: 31,190,583 (GRCm39) |
M48L |
possibly damaging |
Het |
| Kif18a |
A |
T |
2: 109,128,471 (GRCm39) |
I376L |
probably damaging |
Het |
| Lbr |
C |
T |
1: 181,648,267 (GRCm39) |
C398Y |
probably damaging |
Het |
| Myh2 |
A |
G |
11: 67,085,723 (GRCm39) |
K1855R |
possibly damaging |
Het |
| Or2v2 |
T |
A |
11: 49,004,254 (GRCm39) |
I100L |
probably benign |
Het |
| Or5b98 |
G |
A |
19: 12,931,520 (GRCm39) |
C189Y |
possibly damaging |
Het |
| Or8d2b |
A |
G |
9: 38,788,609 (GRCm39) |
I46V |
probably damaging |
Het |
| Pcdhb5 |
T |
A |
18: 37,455,734 (GRCm39) |
S705T |
possibly damaging |
Het |
| Pdss2 |
A |
G |
10: 43,097,834 (GRCm39) |
Y26C |
probably benign |
Het |
| Pgm2l1 |
A |
G |
7: 99,899,508 (GRCm39) |
T41A |
probably damaging |
Het |
| Rrp12 |
T |
C |
19: 41,861,344 (GRCm39) |
|
probably null |
Het |
| Sash1 |
A |
G |
10: 8,606,006 (GRCm39) |
S795P |
possibly damaging |
Het |
| Sec16a |
A |
G |
2: 26,312,167 (GRCm39) |
Y1998H |
probably benign |
Het |
| Slc22a21 |
T |
C |
11: 53,860,329 (GRCm39) |
D34G |
probably damaging |
Het |
| Slco4c1 |
C |
G |
1: 96,772,381 (GRCm39) |
|
probably null |
Het |
| Srsf6 |
T |
C |
2: 162,776,636 (GRCm39) |
|
probably benign |
Het |
| Tgfb2 |
T |
C |
1: 186,364,735 (GRCm39) |
H253R |
probably damaging |
Het |
| Top3b |
A |
T |
16: 16,701,383 (GRCm39) |
I232F |
probably damaging |
Het |
| Trim24 |
G |
A |
6: 37,877,627 (GRCm39) |
R39H |
possibly damaging |
Het |
| Tsc22d1 |
T |
A |
14: 76,656,320 (GRCm39) |
M851K |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,762,855 (GRCm39) |
V3268A |
possibly damaging |
Het |
| Unc79 |
A |
T |
12: 103,149,703 (GRCm39) |
Q2599L |
probably damaging |
Het |
| Vmn1r192 |
T |
A |
13: 22,371,465 (GRCm39) |
I252F |
probably damaging |
Het |
| Vwce |
A |
G |
19: 10,636,996 (GRCm39) |
T693A |
probably benign |
Het |
|
| Other mutations in Prss58 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01096:Prss58
|
APN |
6 |
40,872,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01108:Prss58
|
APN |
6 |
40,874,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01645:Prss58
|
APN |
6 |
40,874,244 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0032:Prss58
|
UTSW |
6 |
40,872,633 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0032:Prss58
|
UTSW |
6 |
40,872,633 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1622:Prss58
|
UTSW |
6 |
40,874,248 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R2511:Prss58
|
UTSW |
6 |
40,874,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5093:Prss58
|
UTSW |
6 |
40,874,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5601:Prss58
|
UTSW |
6 |
40,874,783 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5992:Prss58
|
UTSW |
6 |
40,874,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6806:Prss58
|
UTSW |
6 |
40,874,666 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7105:Prss58
|
UTSW |
6 |
40,874,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7136:Prss58
|
UTSW |
6 |
40,876,987 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7344:Prss58
|
UTSW |
6 |
40,872,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7699:Prss58
|
UTSW |
6 |
40,872,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7700:Prss58
|
UTSW |
6 |
40,872,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7954:Prss58
|
UTSW |
6 |
40,872,543 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8305:Prss58
|
UTSW |
6 |
40,872,594 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8370:Prss58
|
UTSW |
6 |
40,872,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9488:Prss58
|
UTSW |
6 |
40,874,382 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAGTCCTGTTACACATTACTAGG -3'
(R):5'- CCAGCAGATCCCATGGAAAG -3'
Sequencing Primer
(F):5'- GTCCTGTTACACATTACTAGGTATTC -3'
(R):5'- AAGGGATGTGGAGGTGTCTGAC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation