Incidental Mutation 'IGL00469:Prss44'
| ID |
4806 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Prss44
|
| Ensembl Gene |
ENSMUSG00000032493 |
| Gene Name |
serine protease 44 |
| Synonyms |
1700036D21Rik, TESSP4 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
IGL00469
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
110642987-110647067 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 110644557 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 222
(S222P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095948
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098345]
[ENSMUST00000141089]
[ENSMUST00000198815]
|
| AlphaFold |
Q402U7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098345
AA Change: S222P
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000095948
Gene: ENSMUSG00000032493
AA Change: S222P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
111 |
340 |
1.17e-84 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141089
|
| SMART Domains |
Protein: ENSMUSP00000117039
Gene: ENSMUSG00000032493
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:Trypsin
|
112 |
144 |
1.3e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196597
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198815
AA Change: S59P
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000142633
Gene: ENSMUSG00000032493
AA Change: S59P
| Domain | Start | End | E-Value | Type |
|---|
|
Tryp_SPc
|
3 |
115 |
2.6e-5 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cacna2d4 |
A |
G |
6: 119,245,239 (GRCm39) |
I316V |
probably damaging |
Het |
| Ccdc9b |
T |
C |
2: 118,590,170 (GRCm39) |
S225G |
possibly damaging |
Het |
| Ccnb1ip1 |
G |
A |
14: 51,029,556 (GRCm39) |
R169C |
probably damaging |
Het |
| Crip1 |
G |
T |
12: 113,115,755 (GRCm39) |
D59Y |
probably damaging |
Het |
| Cstf2 |
T |
A |
X: 132,974,905 (GRCm39) |
H354Q |
probably damaging |
Het |
| Dcaf8l |
C |
A |
X: 88,449,944 (GRCm39) |
V62F |
possibly damaging |
Het |
| Dchs1 |
A |
T |
7: 105,404,468 (GRCm39) |
D2691E |
probably damaging |
Het |
| Dock2 |
T |
C |
11: 34,179,603 (GRCm39) |
|
probably benign |
Het |
| Fam199x |
T |
C |
X: 135,972,860 (GRCm39) |
I222T |
probably damaging |
Het |
| Flt1 |
A |
T |
5: 147,540,415 (GRCm39) |
L758Q |
probably damaging |
Het |
| Fxr2 |
T |
G |
11: 69,532,965 (GRCm39) |
L181R |
possibly damaging |
Het |
| Gpr158 |
G |
T |
2: 21,751,606 (GRCm39) |
|
probably benign |
Het |
| Hsd3b9 |
T |
A |
3: 98,363,716 (GRCm39) |
Q43L |
probably benign |
Het |
| Lancl2 |
T |
C |
6: 57,711,011 (GRCm39) |
W390R |
probably damaging |
Het |
| Pola1 |
C |
T |
X: 92,638,391 (GRCm39) |
V459I |
possibly damaging |
Het |
| Pola1 |
T |
C |
X: 92,604,991 (GRCm39) |
T981A |
probably damaging |
Het |
| Sec16a |
T |
C |
2: 26,318,312 (GRCm39) |
N1593S |
probably damaging |
Het |
| Slco2b1 |
A |
G |
7: 99,309,318 (GRCm39) |
I671T |
probably benign |
Het |
| Tm9sf4 |
T |
C |
2: 153,044,275 (GRCm39) |
I509T |
probably damaging |
Het |
| Trpc6 |
A |
G |
9: 8,626,702 (GRCm39) |
T351A |
probably benign |
Het |
| Utrn |
T |
C |
10: 12,282,273 (GRCm39) |
Q768R |
probably damaging |
Het |
| Zfp984 |
C |
T |
4: 147,839,343 (GRCm39) |
G503S |
probably benign |
Het |
|
| Other mutations in Prss44 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01647:Prss44
|
APN |
9 |
110,643,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02174:Prss44
|
APN |
9 |
110,646,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB008:Prss44
|
UTSW |
9 |
110,643,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB018:Prss44
|
UTSW |
9 |
110,643,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1800:Prss44
|
UTSW |
9 |
110,646,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1858:Prss44
|
UTSW |
9 |
110,643,177 (GRCm39) |
missense |
probably benign |
0.44 |
|
R3884:Prss44
|
UTSW |
9 |
110,643,764 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R6638:Prss44
|
UTSW |
9 |
110,646,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6746:Prss44
|
UTSW |
9 |
110,644,361 (GRCm39) |
makesense |
probably null |
|
|
R7267:Prss44
|
UTSW |
9 |
110,645,611 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7332:Prss44
|
UTSW |
9 |
110,644,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7698:Prss44
|
UTSW |
9 |
110,646,379 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7931:Prss44
|
UTSW |
9 |
110,643,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8880:Prss44
|
UTSW |
9 |
110,643,263 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8935:Prss44
|
UTSW |
9 |
110,645,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9122:Prss44
|
UTSW |
9 |
110,646,362 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9613:Prss44
|
UTSW |
9 |
110,643,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Prss44
|
UTSW |
9 |
110,643,135 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation