Incidental Mutation 'IGL01108:Prss58'
ID |
51327 |
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 # |
IGL01108
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
40872204-40877321 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 40874278 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 133
(C133R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000069833
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063523]
|
AlphaFold |
Q8BW11 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000063523
AA Change: C133R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000069833 Gene: ENSMUSG00000051936 AA Change: C133R
Domain | Start | End | E-Value | Type |
Tryp_SPc
|
22 |
234 |
4.49e-36 |
SMART |
|
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Asah2 |
A |
G |
19: 31,986,081 (GRCm39) |
|
probably benign |
Het |
Baz1a |
A |
G |
12: 54,963,516 (GRCm39) |
I856T |
probably benign |
Het |
Cblb |
T |
A |
16: 51,867,814 (GRCm39) |
|
probably null |
Het |
Cpq |
A |
G |
15: 33,497,433 (GRCm39) |
Q391R |
probably benign |
Het |
Dnah9 |
T |
A |
11: 65,740,806 (GRCm39) |
T4127S |
possibly damaging |
Het |
Dync2h1 |
A |
G |
9: 7,176,771 (GRCm39) |
S63P |
possibly damaging |
Het |
Ercc3 |
T |
C |
18: 32,397,638 (GRCm39) |
V623A |
probably damaging |
Het |
Fbxw9 |
A |
G |
8: 85,792,606 (GRCm39) |
|
probably benign |
Het |
Gorasp2 |
T |
A |
2: 70,508,922 (GRCm39) |
S133R |
probably damaging |
Het |
Gtf2h1 |
G |
A |
7: 46,461,922 (GRCm39) |
A307T |
probably damaging |
Het |
Hk1 |
T |
C |
10: 62,132,487 (GRCm39) |
K186R |
probably benign |
Het |
Itga11 |
A |
G |
9: 62,664,903 (GRCm39) |
E596G |
probably benign |
Het |
Kcnj13 |
T |
C |
1: 87,314,659 (GRCm39) |
I188V |
probably benign |
Het |
Klhl18 |
A |
T |
9: 110,257,754 (GRCm39) |
M492K |
probably damaging |
Het |
Mctp2 |
T |
C |
7: 71,835,563 (GRCm39) |
T545A |
probably damaging |
Het |
Mgrn1 |
G |
T |
16: 4,734,019 (GRCm39) |
|
probably null |
Het |
Mideas |
T |
C |
12: 84,220,465 (GRCm39) |
E163G |
probably damaging |
Het |
Olfm4 |
T |
C |
14: 80,259,339 (GRCm39) |
V529A |
probably benign |
Het |
Or13f5 |
C |
T |
4: 52,825,727 (GRCm39) |
T110I |
probably damaging |
Het |
Parp4 |
T |
G |
14: 56,844,897 (GRCm39) |
I596S |
probably benign |
Het |
Plppr3 |
T |
A |
10: 79,703,355 (GRCm39) |
D43V |
probably damaging |
Het |
Prss51 |
A |
T |
14: 64,333,433 (GRCm39) |
K14I |
probably damaging |
Het |
Recql5 |
A |
T |
11: 115,788,007 (GRCm39) |
N437K |
probably benign |
Het |
Samd10 |
A |
G |
2: 181,239,007 (GRCm39) |
Y135H |
probably damaging |
Het |
Scnn1b |
G |
T |
7: 121,513,555 (GRCm39) |
|
probably null |
Het |
Serpina7 |
C |
T |
X: 137,983,886 (GRCm39) |
V58I |
probably benign |
Het |
Slf1 |
A |
T |
13: 77,273,594 (GRCm39) |
|
probably benign |
Het |
Tedc1 |
C |
T |
12: 113,126,808 (GRCm39) |
R357* |
probably null |
Het |
Urb1 |
C |
T |
16: 90,589,702 (GRCm39) |
A360T |
probably damaging |
Het |
Ush2a |
G |
T |
1: 188,595,022 (GRCm39) |
R3818L |
probably benign |
Het |
Vmn2r57 |
C |
T |
7: 41,077,008 (GRCm39) |
R386K |
probably benign |
Het |
Wnt3a |
T |
C |
11: 59,147,135 (GRCm39) |
N184D |
probably benign |
Het |
Xpc |
G |
A |
6: 91,469,987 (GRCm39) |
R746W |
probably damaging |
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 |
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 |