Incidental Mutation 'IGL00917:Prss50'
ID |
28148 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Prss50
|
Ensembl Gene |
ENSMUSG00000048752 |
Gene Name |
serine protease 50 |
Synonyms |
Tsp50 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.064)
|
Stock # |
IGL00917
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
110687035-110693697 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 110691474 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 259
(H259Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000059668
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050958]
[ENSMUST00000051097]
|
AlphaFold |
Q8BLH5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000050958
|
SMART Domains |
Protein: ENSMUSP00000060148 Gene: ENSMUSG00000049555
Domain | Start | End | E-Value | Type |
transmembrane domain
|
12 |
31 |
N/A |
INTRINSIC |
low complexity region
|
37 |
44 |
N/A |
INTRINSIC |
transmembrane domain
|
57 |
79 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000051097
AA Change: H259Q
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000059668 Gene: ENSMUSG00000048752 AA Change: H259Q
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
47 |
N/A |
INTRINSIC |
low complexity region
|
112 |
127 |
N/A |
INTRINSIC |
Tryp_SPc
|
172 |
407 |
2.87e-43 |
SMART |
low complexity region
|
425 |
439 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000196027
AA Change: H67Q
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc5 |
A |
T |
16: 20,241,107 (GRCm39) |
V26E |
probably benign |
Het |
Adcy4 |
T |
A |
14: 56,011,120 (GRCm39) |
|
probably null |
Het |
Adgrl3 |
C |
T |
5: 81,841,421 (GRCm39) |
T766I |
possibly damaging |
Het |
Atad2b |
A |
T |
12: 5,015,837 (GRCm39) |
|
probably benign |
Het |
Atp8b4 |
A |
T |
2: 126,216,453 (GRCm39) |
S664R |
probably benign |
Het |
Cand1 |
A |
C |
10: 119,046,841 (GRCm39) |
I883S |
possibly damaging |
Het |
Cfap53 |
A |
G |
18: 74,432,367 (GRCm39) |
D85G |
probably benign |
Het |
Chd4 |
G |
A |
6: 125,081,909 (GRCm39) |
R514Q |
possibly damaging |
Het |
Cnst |
T |
C |
1: 179,452,557 (GRCm39) |
|
probably benign |
Het |
Col6a6 |
T |
C |
9: 105,661,453 (GRCm39) |
|
probably benign |
Het |
Cux2 |
A |
C |
5: 122,007,168 (GRCm39) |
L831R |
probably null |
Het |
Elf2 |
T |
A |
3: 51,215,467 (GRCm39) |
|
probably benign |
Het |
Frey1 |
T |
A |
2: 92,213,563 (GRCm39) |
S39T |
probably benign |
Het |
Glp1r |
A |
G |
17: 31,138,443 (GRCm39) |
|
probably benign |
Het |
Hus1b |
A |
G |
13: 31,131,527 (GRCm39) |
M44T |
probably benign |
Het |
Mbd6 |
A |
G |
10: 127,119,988 (GRCm39) |
|
probably benign |
Het |
Med31 |
T |
A |
11: 72,102,905 (GRCm39) |
|
probably null |
Het |
Mmrn1 |
C |
T |
6: 60,952,894 (GRCm39) |
Q392* |
probably null |
Het |
Mrpl3 |
T |
G |
9: 104,934,240 (GRCm39) |
V121G |
probably damaging |
Het |
Or10am5 |
A |
G |
7: 6,517,577 (GRCm39) |
S284P |
probably damaging |
Het |
Or14c46 |
A |
T |
7: 85,918,649 (GRCm39) |
M116K |
probably damaging |
Het |
Palld |
A |
G |
8: 61,968,969 (GRCm39) |
V879A |
possibly damaging |
Het |
Pkn2 |
G |
T |
3: 142,559,386 (GRCm39) |
D46E |
probably damaging |
Het |
Prkdc |
T |
A |
16: 15,557,428 (GRCm39) |
C2244S |
probably damaging |
Het |
Rab8b |
C |
T |
9: 66,761,969 (GRCm39) |
W102* |
probably null |
Het |
Rad54l2 |
A |
T |
9: 106,587,638 (GRCm39) |
L709Q |
possibly damaging |
Het |
Rapgef1 |
T |
C |
2: 29,592,535 (GRCm39) |
V471A |
probably benign |
Het |
Rbms3 |
A |
G |
9: 116,939,183 (GRCm39) |
S27P |
probably damaging |
Het |
Rpl35a |
A |
G |
16: 32,879,101 (GRCm39) |
K73E |
possibly damaging |
Het |
Sugct |
A |
T |
13: 17,032,503 (GRCm39) |
Y416* |
probably null |
Het |
Top2b |
A |
G |
14: 16,407,354 (GRCm38) |
I713V |
probably benign |
Het |
Unc79 |
A |
T |
12: 103,054,766 (GRCm39) |
R777S |
possibly damaging |
Het |
Vps37a |
T |
A |
8: 40,993,779 (GRCm39) |
M258K |
probably benign |
Het |
Zfp944 |
G |
A |
17: 22,558,765 (GRCm39) |
L161F |
probably benign |
Het |
|
Other mutations in Prss50 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01838:Prss50
|
APN |
9 |
110,693,560 (GRCm39) |
missense |
probably benign |
0.38 |
IGL03185:Prss50
|
APN |
9 |
110,687,279 (GRCm39) |
missense |
probably benign |
|
R0347:Prss50
|
UTSW |
9 |
110,691,418 (GRCm39) |
missense |
probably damaging |
0.97 |
R1545:Prss50
|
UTSW |
9 |
110,690,336 (GRCm39) |
missense |
probably damaging |
0.99 |
R1660:Prss50
|
UTSW |
9 |
110,691,557 (GRCm39) |
missense |
possibly damaging |
0.61 |
R1844:Prss50
|
UTSW |
9 |
110,687,081 (GRCm39) |
unclassified |
probably benign |
|
R1969:Prss50
|
UTSW |
9 |
110,691,449 (GRCm39) |
missense |
probably damaging |
0.97 |
R2025:Prss50
|
UTSW |
9 |
110,690,328 (GRCm39) |
missense |
probably benign |
0.00 |
R2090:Prss50
|
UTSW |
9 |
110,691,361 (GRCm39) |
missense |
probably damaging |
1.00 |
R2917:Prss50
|
UTSW |
9 |
110,691,613 (GRCm39) |
missense |
probably null |
1.00 |
R4063:Prss50
|
UTSW |
9 |
110,687,480 (GRCm39) |
missense |
probably benign |
|
R4799:Prss50
|
UTSW |
9 |
110,692,864 (GRCm39) |
missense |
probably damaging |
0.99 |
R5763:Prss50
|
UTSW |
9 |
110,691,517 (GRCm39) |
nonsense |
probably null |
|
R5984:Prss50
|
UTSW |
9 |
110,691,454 (GRCm39) |
missense |
probably damaging |
0.97 |
R6159:Prss50
|
UTSW |
9 |
110,693,371 (GRCm39) |
missense |
probably benign |
0.32 |
R6318:Prss50
|
UTSW |
9 |
110,690,367 (GRCm39) |
missense |
probably damaging |
1.00 |
R7296:Prss50
|
UTSW |
9 |
110,690,357 (GRCm39) |
missense |
probably damaging |
1.00 |
R7323:Prss50
|
UTSW |
9 |
110,692,800 (GRCm39) |
missense |
possibly damaging |
0.83 |
R7720:Prss50
|
UTSW |
9 |
110,690,403 (GRCm39) |
missense |
probably damaging |
1.00 |
R8359:Prss50
|
UTSW |
9 |
110,691,370 (GRCm39) |
missense |
probably damaging |
0.97 |
R8428:Prss50
|
UTSW |
9 |
110,687,128 (GRCm39) |
missense |
unknown |
|
R8841:Prss50
|
UTSW |
9 |
110,687,480 (GRCm39) |
missense |
probably benign |
|
R8851:Prss50
|
UTSW |
9 |
110,687,081 (GRCm39) |
unclassified |
probably benign |
|
|
Posted On |
2013-04-17 |