Incidental Mutation 'IGL01096:Prss58'
| ID |
51303 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Prss58
|
| Ensembl Gene |
ENSMUSG00000051936 |
| Gene Name |
serine protease 58 |
| Synonyms |
BC048599 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.049)
|
| Stock # |
IGL01096
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
40872204-40877321 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 40872399 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 208
(I208N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069833
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063523]
[ENSMUST00000103262]
|
| AlphaFold |
Q8BW11 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000063523
AA Change: I208N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000069833
Gene: ENSMUSG00000051936
AA Change: I208N
| Domain | Start | End | E-Value | Type |
|---|
|
Tryp_SPc
|
22 |
234 |
4.49e-36 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103262
|
| SMART Domains |
Protein: ENSMUSP00000100078
Gene: ENSMUSG00000076461
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:V-set
|
22 |
116 |
8.4e-10 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192446
|
| Coding Region Coverage |
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg3 |
A |
T |
8: 95,766,221 (GRCm39) |
M351L |
possibly damaging |
Het |
| Alk |
T |
C |
17: 72,228,891 (GRCm39) |
K725E |
possibly damaging |
Het |
| Castor1 |
A |
C |
11: 4,171,850 (GRCm39) |
E309A |
probably damaging |
Het |
| Dspp |
T |
A |
5: 104,323,233 (GRCm39) |
H125Q |
possibly damaging |
Het |
| Elmo2 |
A |
T |
2: 165,138,907 (GRCm39) |
|
probably benign |
Het |
| Erg |
A |
G |
16: 95,190,912 (GRCm39) |
|
probably benign |
Het |
| Fam20c |
A |
G |
5: 138,794,910 (GRCm39) |
E513G |
possibly damaging |
Het |
| Gm9839 |
G |
T |
1: 32,559,917 (GRCm39) |
T55N |
possibly damaging |
Het |
| Gpd2 |
A |
T |
2: 57,228,879 (GRCm39) |
M228L |
probably damaging |
Het |
| Hp |
A |
T |
8: 110,302,033 (GRCm39) |
M305K |
probably benign |
Het |
| Ifng |
T |
A |
10: 118,281,174 (GRCm39) |
|
probably benign |
Het |
| Igkv9-123 |
T |
C |
6: 67,931,449 (GRCm39) |
D39G |
possibly damaging |
Het |
| Melk |
T |
A |
4: 44,347,262 (GRCm39) |
F431I |
probably benign |
Het |
| Or10ak12 |
A |
G |
4: 118,666,653 (GRCm39) |
V136A |
probably damaging |
Het |
| Or12j5 |
A |
T |
7: 140,084,097 (GRCm39) |
S92T |
probably damaging |
Het |
| Or4p19 |
A |
G |
2: 88,242,135 (GRCm39) |
M289T |
probably damaging |
Het |
| Or51k1 |
A |
C |
7: 103,661,321 (GRCm39) |
L196W |
probably damaging |
Het |
| Or8g27 |
G |
A |
9: 39,129,412 (GRCm39) |
G253D |
probably damaging |
Het |
| Pappa |
T |
C |
4: 65,107,553 (GRCm39) |
Y655H |
probably damaging |
Het |
| Ryr2 |
T |
A |
13: 11,718,430 (GRCm39) |
I2720F |
probably damaging |
Het |
| Slc13a1 |
G |
T |
6: 24,104,076 (GRCm39) |
T322K |
probably damaging |
Het |
| Spag17 |
T |
C |
3: 99,970,691 (GRCm39) |
F1292L |
probably benign |
Het |
| Tbx5 |
A |
G |
5: 120,021,091 (GRCm39) |
T366A |
probably benign |
Het |
| Tmeff2 |
G |
A |
1: 50,969,705 (GRCm39) |
|
probably benign |
Het |
| Tmem101 |
C |
A |
11: 102,045,378 (GRCm39) |
|
probably null |
Het |
| Tpp2 |
C |
A |
1: 44,000,048 (GRCm39) |
P389T |
probably damaging |
Het |
| Tyk2 |
A |
G |
9: 21,020,159 (GRCm39) |
Y1000H |
probably damaging |
Het |
| Ush2a |
C |
A |
1: 188,410,574 (GRCm39) |
N2407K |
probably damaging |
Het |
| Vmn1r94 |
C |
T |
7: 19,901,561 (GRCm39) |
V248I |
probably damaging |
Het |
| Vmn2r12 |
T |
A |
5: 109,234,125 (GRCm39) |
I696F |
probably damaging |
Het |
| Vmn2r83 |
A |
G |
10: 79,313,662 (GRCm39) |
E90G |
probably damaging |
Het |
| Washc5 |
T |
C |
15: 59,222,060 (GRCm39) |
|
probably benign |
Het |
| Wee2 |
A |
G |
6: 40,440,187 (GRCm39) |
E445G |
probably benign |
Het |
| Zfp518b |
T |
C |
5: 38,830,131 (GRCm39) |
T625A |
probably benign |
Het |
|
| Other mutations in Prss58 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R4292:Prss58
|
UTSW |
6 |
40,874,244 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
|
| Posted On |
2013-06-21 |
Incidental Mutation