Incidental Mutation 'R1308:Prss47'
ID |
157862 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prss47
|
Ensembl Gene |
ENSMUSG00000090658 |
Gene Name |
serine protease 47 |
Synonyms |
Gm274, LOC218304 |
MMRRC Submission |
039374-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
R1308 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
65192420-65200574 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 65199630 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 83
(H83R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145196
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000182457]
[ENSMUST00000203968]
[ENSMUST00000222769]
|
AlphaFold |
A0A0N4SVQ0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000168201
AA Change: H11R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000129006 Gene: ENSMUSG00000090658 AA Change: H11R
Domain | Start | End | E-Value | Type |
Tryp_SPc
|
26 |
264 |
1.5e-78 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182457
AA Change: H11R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000145271 Gene: ENSMUSG00000090658 AA Change: H11R
Domain | Start | End | E-Value | Type |
Tryp_SPc
|
26 |
264 |
1.5e-78 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000203968
AA Change: H83R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000145196 Gene: ENSMUSG00000090658 AA Change: H83R
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
Tryp_SPc
|
98 |
336 |
3.13e-76 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220767
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222769
|
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 89.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Angpt2 |
C |
T |
8: 18,742,134 (GRCm39) |
W474* |
probably null |
Het |
Cln6 |
A |
G |
9: 62,758,143 (GRCm39) |
T301A |
probably damaging |
Het |
G6pc2 |
A |
T |
2: 69,050,570 (GRCm39) |
D65V |
probably damaging |
Het |
Havcr1 |
C |
T |
11: 46,647,097 (GRCm39) |
T177I |
probably damaging |
Het |
Jph1 |
A |
G |
1: 17,161,918 (GRCm39) |
I248T |
probably damaging |
Het |
Lamc2 |
A |
G |
1: 153,026,564 (GRCm39) |
L230P |
probably damaging |
Het |
Lmnb1 |
A |
G |
18: 56,861,547 (GRCm39) |
K146R |
probably benign |
Het |
Map3k6 |
T |
C |
4: 132,973,126 (GRCm39) |
S395P |
probably damaging |
Het |
Myo6 |
G |
A |
9: 80,152,996 (GRCm39) |
V210I |
probably damaging |
Het |
Ntn4 |
C |
T |
10: 93,543,215 (GRCm39) |
R314W |
probably damaging |
Het |
Otoa |
C |
A |
7: 120,724,666 (GRCm39) |
C448* |
probably null |
Het |
Pate6 |
T |
C |
9: 35,700,385 (GRCm39) |
T67A |
probably benign |
Het |
Prkcg |
G |
C |
7: 3,377,622 (GRCm39) |
K525N |
probably damaging |
Het |
Pros1 |
G |
A |
16: 62,734,228 (GRCm39) |
D345N |
probably damaging |
Het |
R3hdml |
G |
T |
2: 163,344,319 (GRCm39) |
C236F |
probably damaging |
Het |
Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
Syt12 |
A |
T |
19: 4,510,763 (GRCm39) |
V37E |
probably damaging |
Het |
Tekt2 |
A |
T |
4: 126,218,711 (GRCm39) |
L14H |
probably damaging |
Het |
Tnpo2 |
T |
C |
8: 85,781,982 (GRCm39) |
F857S |
probably damaging |
Het |
Wdr27 |
T |
C |
17: 15,148,646 (GRCm39) |
T116A |
probably damaging |
Het |
|
Other mutations in Prss47 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0900:Prss47
|
UTSW |
13 |
65,197,208 (GRCm39) |
missense |
possibly damaging |
0.72 |
R1113:Prss47
|
UTSW |
13 |
65,199,630 (GRCm39) |
missense |
probably benign |
0.00 |
R1472:Prss47
|
UTSW |
13 |
65,197,103 (GRCm39) |
missense |
probably damaging |
1.00 |
R1561:Prss47
|
UTSW |
13 |
65,194,062 (GRCm39) |
missense |
probably damaging |
0.97 |
R2021:Prss47
|
UTSW |
13 |
65,199,591 (GRCm39) |
missense |
probably benign |
0.08 |
R2165:Prss47
|
UTSW |
13 |
65,192,887 (GRCm39) |
missense |
probably damaging |
0.98 |
R5655:Prss47
|
UTSW |
13 |
65,192,857 (GRCm39) |
missense |
probably damaging |
1.00 |
R6044:Prss47
|
UTSW |
13 |
65,197,120 (GRCm39) |
nonsense |
probably null |
|
R6395:Prss47
|
UTSW |
13 |
65,197,116 (GRCm39) |
missense |
probably benign |
0.05 |
R7196:Prss47
|
UTSW |
13 |
65,192,640 (GRCm39) |
missense |
probably benign |
0.08 |
R7250:Prss47
|
UTSW |
13 |
65,200,355 (GRCm39) |
missense |
probably benign |
0.10 |
R7394:Prss47
|
UTSW |
13 |
65,192,807 (GRCm39) |
missense |
probably benign |
0.11 |
R7443:Prss47
|
UTSW |
13 |
65,197,303 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Prss47
|
UTSW |
13 |
65,199,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGGCTCCTGATAAAGCAAACTCAC -3'
(R):5'- CCCTTGCCAGGACTGCTTAAAGATG -3'
Sequencing Primer
(F):5'- TCCTGATAAAGCAAACTCACTTTCG -3'
(R):5'- CTTTTCATGTCAGTGAAAGCAGAGAC -3'
|
Posted On |
2014-02-18 |