Incidental Mutation 'R5295:Prss54'
| ID |
500922 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prss54
|
| Ensembl Gene |
ENSMUSG00000048400 |
| Gene Name |
serine protease 54 |
| Synonyms |
4931432M23Rik |
| MMRRC Submission |
042878-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R5295 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
96285694-96302965 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 96291106 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 165
(T165A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058859
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052690]
[ENSMUST00000180075]
[ENSMUST00000213096]
|
| AlphaFold |
Q7M756 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000052690
AA Change: T165A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000058859
Gene: ENSMUSG00000048400
AA Change: T165A
| 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 damaging
Transcript: ENSMUST00000180075
AA Change: T165A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000137577
Gene: ENSMUSG00000048400
AA Change: T165A
| 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 |
noncoding transcript
Transcript: ENSMUST00000212513
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213096
AA Change: T165A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Meta Mutation Damage Score |
0.1118 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
|
| 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 |
|---|
| Alpk2 |
C |
T |
18: 65,438,109 (GRCm39) |
E1095K |
probably damaging |
Het |
| Alpl |
T |
C |
4: 137,476,919 (GRCm39) |
T245A |
probably benign |
Het |
| Ank2 |
T |
C |
3: 126,825,832 (GRCm39) |
H378R |
probably damaging |
Het |
| Arhgef1 |
G |
A |
7: 24,618,777 (GRCm39) |
|
probably null |
Het |
| Atp5f1c |
T |
C |
2: 10,073,544 (GRCm39) |
R10G |
possibly damaging |
Het |
| Cbln3 |
T |
C |
14: 56,120,920 (GRCm39) |
|
probably null |
Het |
| Ccr10 |
C |
T |
11: 101,065,111 (GRCm39) |
V140M |
possibly damaging |
Het |
| Cep135 |
T |
A |
5: 76,741,051 (GRCm39) |
H42Q |
possibly damaging |
Het |
| Commd5 |
C |
A |
15: 76,785,152 (GRCm39) |
T183K |
possibly damaging |
Het |
| Dnajc16 |
T |
C |
4: 141,495,239 (GRCm39) |
E493G |
possibly damaging |
Het |
| Ears2 |
T |
C |
7: 121,647,421 (GRCm39) |
R288G |
probably damaging |
Het |
| Elovl4 |
G |
A |
9: 83,662,714 (GRCm39) |
P273L |
possibly damaging |
Het |
| Fam186b |
T |
A |
15: 99,181,755 (GRCm39) |
I148F |
probably damaging |
Het |
| Fryl |
T |
C |
5: 73,270,134 (GRCm39) |
Y79C |
probably damaging |
Het |
| Gad1-ps |
A |
G |
10: 99,280,751 (GRCm39) |
|
noncoding transcript |
Het |
| Gm14325 |
G |
A |
2: 177,474,777 (GRCm39) |
H102Y |
possibly damaging |
Het |
| Ighv1-77 |
T |
A |
12: 115,825,528 (GRCm39) |
S104C |
probably damaging |
Het |
| Kcnv1 |
T |
C |
15: 44,977,987 (GRCm39) |
D17G |
unknown |
Het |
| Lmtk3 |
G |
A |
7: 45,440,722 (GRCm39) |
D243N |
probably damaging |
Het |
| Lrrc7 |
T |
A |
3: 157,876,376 (GRCm39) |
K571N |
probably damaging |
Het |
| Lsm7 |
T |
C |
10: 80,690,454 (GRCm39) |
E32G |
probably damaging |
Het |
| Ly6f |
A |
G |
15: 75,143,488 (GRCm39) |
Q65R |
probably benign |
Het |
| Perm1 |
T |
C |
4: 156,301,975 (GRCm39) |
L173P |
probably benign |
Het |
| Plvap |
T |
C |
8: 71,964,314 (GRCm39) |
Q16R |
probably benign |
Het |
| Prb1c |
T |
G |
6: 132,338,840 (GRCm39) |
Q126P |
unknown |
Het |
| Prl7d1 |
A |
T |
13: 27,893,230 (GRCm39) |
V227D |
probably damaging |
Het |
| Psrc1 |
A |
G |
3: 108,293,675 (GRCm39) |
I195V |
probably benign |
Het |
| Rnf123 |
AT |
ATT |
9: 107,941,202 (GRCm39) |
|
probably null |
Het |
| Rnf213 |
A |
T |
11: 119,331,642 (GRCm39) |
T2284S |
probably benign |
Het |
| Serpina3c |
T |
C |
12: 104,114,637 (GRCm39) |
E333G |
probably damaging |
Het |
| Serpinb6c |
A |
G |
13: 34,077,800 (GRCm39) |
F190S |
probably damaging |
Het |
| Sfmbt1 |
G |
A |
14: 30,495,986 (GRCm39) |
D90N |
probably damaging |
Het |
| Tdh |
T |
C |
14: 63,733,558 (GRCm39) |
Y110C |
probably damaging |
Het |
| Tdrd9 |
T |
A |
12: 112,018,346 (GRCm39) |
L1255* |
probably null |
Het |
| Trim41 |
TTCCTCCTCCTCCTCCTCCTCCTCCTCC |
TTCCTCCTCCTCCTCCTCCTCCTCC |
11: 48,707,084 (GRCm39) |
|
probably benign |
Het |
| Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
probably benign |
Het |
| Zbtb2 |
T |
C |
10: 4,318,508 (GRCm39) |
K506R |
probably damaging |
Het |
| Zmiz1 |
T |
C |
14: 25,656,771 (GRCm39) |
L800P |
probably damaging |
Het |
| Znhit6 |
A |
G |
3: 145,306,248 (GRCm39) |
D251G |
probably benign |
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 |
|
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 |
|
R8780:Prss54
|
UTSW |
8 |
96,286,057 (GRCm39) |
missense |
probably benign |
|
|
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'- CTCCCCTTTGTCCAGTAAGG -3'
(R):5'- TCCAGATTCAGGGTCAAAGC -3'
Sequencing Primer
(F):5'- TCGGGTGCAACTCATGATGAC -3'
(R):5'- GCGAAGAGCTAGTTTTCAGTAAAATC -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation