Incidental Mutation 'R8780:Prss54'
| ID |
670209 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prss54
|
| Ensembl Gene |
ENSMUSG00000048400 |
| Gene Name |
serine protease 54 |
| Synonyms |
4931432M23Rik |
| MMRRC Submission |
068604-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R8780 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
96285694-96302965 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 96286057 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 339
(I339V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058859
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041569]
[ENSMUST00000052690]
[ENSMUST00000180075]
[ENSMUST00000213096]
|
| AlphaFold |
Q7M756 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041569
|
| SMART Domains |
Protein: ENSMUSP00000049497
Gene: ENSMUSG00000036598
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
95 |
139 |
N/A |
INTRINSIC |
|
Pfam:DUF4201
|
178 |
354 |
6.2e-52 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052690
AA Change: I339V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000058859
Gene: ENSMUSG00000048400
AA Change: I339V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
28 |
253 |
1.88e-15 |
SMART |
|
low complexity region
|
348 |
359 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000180075
AA Change: I339V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000137577
Gene: ENSMUSG00000048400
AA Change: I339V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
28 |
253 |
1.63e-15 |
SMART |
|
low complexity region
|
348 |
359 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213096
AA Change: I339V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (38/38) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a putative serine-type endopeptidase containing the peptidase S1 domain. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace3 |
A |
G |
11: 105,888,364 (GRCm39) |
D358G |
probably damaging |
Het |
| Actmap |
T |
C |
7: 26,900,503 (GRCm39) |
S161P |
probably benign |
Het |
| Adgrd1 |
G |
A |
5: 129,174,138 (GRCm39) |
|
probably benign |
Het |
| Aff4 |
C |
A |
11: 53,271,444 (GRCm39) |
T327K |
probably damaging |
Het |
| Ajap1 |
A |
G |
4: 153,470,961 (GRCm39) |
V282A |
probably damaging |
Het |
| Arrb1 |
A |
G |
7: 99,240,568 (GRCm39) |
D194G |
probably benign |
Het |
| Atp1a3 |
T |
C |
7: 24,680,979 (GRCm39) |
N836S |
probably damaging |
Het |
| C1ql3 |
A |
G |
2: 13,015,567 (GRCm39) |
V31A |
probably benign |
Het |
| Cc2d2a |
A |
G |
5: 43,896,692 (GRCm39) |
T1530A |
probably damaging |
Het |
| Cenpc1 |
A |
T |
5: 86,164,209 (GRCm39) |
I804K |
probably damaging |
Het |
| Chmp2b |
G |
A |
16: 65,359,422 (GRCm39) |
|
probably benign |
Het |
| Chrm5 |
T |
A |
2: 112,310,453 (GRCm39) |
E221V |
possibly damaging |
Het |
| Col22a1 |
A |
T |
15: 71,878,796 (GRCm39) |
H120Q |
probably damaging |
Het |
| Esp16 |
C |
T |
17: 39,850,729 (GRCm39) |
A36V |
probably damaging |
Het |
| Fn1 |
A |
T |
1: 71,682,308 (GRCm39) |
S283T |
probably benign |
Het |
| Hipk3 |
A |
G |
2: 104,264,179 (GRCm39) |
L773S |
probably damaging |
Het |
| Lcor |
C |
T |
19: 41,573,698 (GRCm39) |
R818W |
probably damaging |
Het |
| Morn3 |
A |
G |
5: 123,175,825 (GRCm39) |
W188R |
probably damaging |
Het |
| Msantd2 |
T |
G |
9: 37,434,798 (GRCm39) |
L547R |
probably damaging |
Het |
| Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
| Obi1 |
A |
T |
14: 104,717,082 (GRCm39) |
C430* |
probably null |
Het |
| Or4a15 |
A |
T |
2: 89,193,652 (GRCm39) |
N40K |
probably damaging |
Het |
| Or7e166 |
T |
C |
9: 19,624,653 (GRCm39) |
F177L |
possibly damaging |
Het |
| Pcdhga5 |
G |
A |
18: 37,828,826 (GRCm39) |
V425I |
probably benign |
Het |
| Pdxk |
T |
A |
10: 78,283,786 (GRCm39) |
Y136F |
probably benign |
Het |
| Prr14 |
T |
C |
7: 127,075,410 (GRCm39) |
F503L |
probably benign |
Het |
| Repin1 |
T |
C |
6: 48,574,073 (GRCm39) |
I334T |
probably damaging |
Het |
| Runx3 |
A |
G |
4: 134,882,720 (GRCm39) |
D152G |
probably damaging |
Het |
| She |
T |
A |
3: 89,739,256 (GRCm39) |
I149N |
probably damaging |
Het |
| Stra6 |
A |
G |
9: 58,042,254 (GRCm39) |
|
probably benign |
Het |
| Svil |
A |
G |
18: 5,063,449 (GRCm39) |
T907A |
probably benign |
Het |
| Syvn1 |
A |
G |
19: 6,100,393 (GRCm39) |
D288G |
probably damaging |
Het |
| Tacc1 |
T |
C |
8: 25,672,077 (GRCm39) |
S384G |
probably benign |
Het |
| Tmc8 |
ACTTCCT |
ACT |
11: 117,681,558 (GRCm39) |
|
probably null |
Het |
| Trhr |
T |
C |
15: 44,061,149 (GRCm39) |
I223T |
possibly damaging |
Het |
| Vmn2r45 |
A |
G |
7: 8,484,371 (GRCm39) |
I478T |
possibly damaging |
Het |
| Zbtb3 |
G |
T |
19: 8,781,173 (GRCm39) |
R262M |
possibly damaging |
Het |
| Zfp516 |
T |
C |
18: 83,006,080 (GRCm39) |
S995P |
probably benign |
Het |
| Zfp985 |
A |
G |
4: 147,668,412 (GRCm39) |
I427V |
possibly damaging |
Het |
|
| Other mutations in Prss54 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02340:Prss54
|
APN |
8 |
96,292,237 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL02598:Prss54
|
APN |
8 |
96,292,337 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03085:Prss54
|
APN |
8 |
96,292,258 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0324:Prss54
|
UTSW |
8 |
96,292,295 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0733:Prss54
|
UTSW |
8 |
96,286,368 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1487:Prss54
|
UTSW |
8 |
96,286,276 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2272:Prss54
|
UTSW |
8 |
96,297,735 (GRCm39) |
nonsense |
probably null |
|
|
R4769:Prss54
|
UTSW |
8 |
96,286,003 (GRCm39) |
missense |
probably benign |
|
|
R5275:Prss54
|
UTSW |
8 |
96,291,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5295:Prss54
|
UTSW |
8 |
96,291,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6117:Prss54
|
UTSW |
8 |
96,292,086 (GRCm39) |
splice site |
probably null |
|
|
R6167:Prss54
|
UTSW |
8 |
96,286,173 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R6791:Prss54
|
UTSW |
8 |
96,291,283 (GRCm39) |
splice site |
probably null |
|
|
R7179:Prss54
|
UTSW |
8 |
96,292,199 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7261:Prss54
|
UTSW |
8 |
96,286,367 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7864:Prss54
|
UTSW |
8 |
96,286,297 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8284:Prss54
|
UTSW |
8 |
96,285,994 (GRCm39) |
nonsense |
probably null |
|
|
R8318:Prss54
|
UTSW |
8 |
96,291,094 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8747:Prss54
|
UTSW |
8 |
96,286,351 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9004:Prss54
|
UTSW |
8 |
96,292,137 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
Z1177:Prss54
|
UTSW |
8 |
96,291,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGCGTTAGCCCACATTTAG -3'
(R):5'- AGTTGGTCTTTGAGCTCCCC -3'
Sequencing Primer
(F):5'- TGAAAGTGACCTTCCCACATATGG -3'
(R):5'- CTTTCACGAATCAAATATTGCCCTG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation