Incidental Mutation 'IGL03407:Prss55'
| ID |
421643 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Prss55
|
| Ensembl Gene |
ENSMUSG00000034623 |
| Gene Name |
serine protease 55 |
| Synonyms |
4933401F05Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
IGL03407
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
64312887-64327611 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 64314539 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 210
(D210E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128485
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089338]
[ENSMUST00000171503]
|
| AlphaFold |
Q14BX2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000089338
AA Change: D210E
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000086752
Gene: ENSMUSG00000034623
AA Change: D210E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
34 |
261 |
1.55e-80 |
SMART |
|
low complexity region
|
277 |
294 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169113
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171503
AA Change: D210E
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000128485
Gene: ENSMUSG00000034623
AA Change: D210E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
34 |
225 |
1.77e-43 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a group of membrane-anchored chymotrypsin (S1)-like serine proteases. The enocoded protein is primarily expressed in the Leydig and Sertoli cells of the testis and may be involved in male fertility. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
A |
G |
12: 118,904,111 (GRCm39) |
V198A |
probably benign |
Het |
| Acot3 |
A |
T |
12: 84,105,415 (GRCm39) |
D294V |
probably damaging |
Het |
| Dnajc10 |
T |
C |
2: 80,176,985 (GRCm39) |
Y647H |
probably damaging |
Het |
| Eml6 |
G |
A |
11: 29,856,330 (GRCm39) |
L67F |
probably damaging |
Het |
| Fbxw8 |
A |
G |
5: 118,280,741 (GRCm39) |
C139R |
probably damaging |
Het |
| Fscb |
G |
T |
12: 64,520,269 (GRCm39) |
A399D |
probably damaging |
Het |
| Gm21726 |
T |
C |
13: 90,731,760 (GRCm39) |
|
noncoding transcript |
Het |
| Lama2 |
A |
T |
10: 27,223,017 (GRCm39) |
V423D |
probably damaging |
Het |
| Mctp2 |
A |
T |
7: 71,861,400 (GRCm39) |
I415N |
probably benign |
Het |
| Myh13 |
A |
G |
11: 67,242,978 (GRCm39) |
T964A |
probably damaging |
Het |
| Ncf4 |
A |
G |
15: 78,138,981 (GRCm39) |
|
probably benign |
Het |
| Nelfcd |
G |
A |
2: 174,268,625 (GRCm39) |
A559T |
possibly damaging |
Het |
| Or3a1d |
G |
T |
11: 74,238,371 (GRCm39) |
T13K |
possibly damaging |
Het |
| Or51m1 |
A |
T |
7: 103,578,158 (GRCm39) |
N43Y |
probably damaging |
Het |
| Plch2 |
A |
T |
4: 155,074,255 (GRCm39) |
V870E |
probably damaging |
Het |
| Rad51ap2 |
A |
G |
12: 11,507,198 (GRCm39) |
I373M |
possibly damaging |
Het |
| Rbm12 |
C |
A |
2: 155,939,484 (GRCm39) |
G263* |
probably null |
Het |
| Rnf167 |
G |
T |
11: 70,541,879 (GRCm39) |
|
probably null |
Het |
| Scn10a |
A |
G |
9: 119,477,237 (GRCm39) |
I715T |
probably damaging |
Het |
| Spata31f1a |
A |
T |
4: 42,850,528 (GRCm39) |
W543R |
probably benign |
Het |
| St8sia1 |
T |
C |
6: 142,859,775 (GRCm39) |
N118S |
possibly damaging |
Het |
| Tas1r3 |
A |
G |
4: 155,946,439 (GRCm39) |
|
probably null |
Het |
| Thbs2 |
A |
G |
17: 14,893,535 (GRCm39) |
S882P |
probably benign |
Het |
| Tmem25 |
A |
G |
9: 44,707,636 (GRCm39) |
S220P |
probably damaging |
Het |
| Tnpo1 |
C |
T |
13: 99,000,348 (GRCm39) |
E340K |
probably damaging |
Het |
| Trex1 |
C |
T |
9: 108,887,395 (GRCm39) |
G199S |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,544,545 (GRCm39) |
I32814V |
probably damaging |
Het |
| Vmn2r15 |
T |
A |
5: 109,434,185 (GRCm39) |
R840* |
probably null |
Het |
| Vps13b |
A |
T |
15: 35,640,012 (GRCm39) |
Q1294L |
possibly damaging |
Het |
| Zdhhc7 |
T |
C |
8: 120,812,131 (GRCm39) |
N164D |
probably damaging |
Het |
|
| Other mutations in Prss55 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01638:Prss55
|
APN |
14 |
64,314,636 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02061:Prss55
|
APN |
14 |
64,313,192 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
IGL02625:Prss55
|
APN |
14 |
64,316,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02901:Prss55
|
APN |
14 |
64,314,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0271:Prss55
|
UTSW |
14 |
64,313,056 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0900:Prss55
|
UTSW |
14 |
64,314,627 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1299:Prss55
|
UTSW |
14 |
64,319,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1740:Prss55
|
UTSW |
14 |
64,313,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1789:Prss55
|
UTSW |
14 |
64,313,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1899:Prss55
|
UTSW |
14 |
64,316,839 (GRCm39) |
missense |
probably benign |
0.33 |
|
R2291:Prss55
|
UTSW |
14 |
64,313,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5510:Prss55
|
UTSW |
14 |
64,314,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6977:Prss55
|
UTSW |
14 |
64,316,785 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7912:Prss55
|
UTSW |
14 |
64,319,180 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7952:Prss55
|
UTSW |
14 |
64,313,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7980:Prss55
|
UTSW |
14 |
64,316,138 (GRCm39) |
splice site |
probably null |
|
|
R9187:Prss55
|
UTSW |
14 |
64,314,531 (GRCm39) |
missense |
probably null |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation