Incidental Mutation 'IGL01744:Prss39'
| ID |
152990 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Prss39
|
| Ensembl Gene |
ENSMUSG00000026125 |
| Gene Name |
serine protease 39 |
| Synonyms |
Tesp1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.193)
|
| Stock # |
IGL01744
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
34537493-34542143 bp(+) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 34541280 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027299
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027299]
[ENSMUST00000191604]
|
| AlphaFold |
O70169 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000027299
|
| SMART Domains |
Protein: ENSMUSP00000027299
Gene: ENSMUSG00000026125
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
35 |
47 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
67 |
307 |
7.97e-60 |
SMART |
|
low complexity region
|
348 |
361 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191604
|
| SMART Domains |
Protein: ENSMUSP00000140460
Gene: ENSMUSG00000026125
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
35 |
47 |
N/A |
INTRINSIC |
|
Pfam:Trypsin
|
68 |
114 |
1.5e-12 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900092C05Rik |
T |
C |
7: 12,284,459 (GRCm39) |
I102T |
possibly damaging |
Het |
| 4933412E24Rik |
C |
A |
15: 59,887,424 (GRCm39) |
A339S |
possibly damaging |
Het |
| Ackr2 |
A |
G |
9: 121,738,185 (GRCm39) |
T187A |
probably benign |
Het |
| Adam28 |
A |
G |
14: 68,844,956 (GRCm39) |
V777A |
probably benign |
Het |
| Add3 |
T |
A |
19: 53,227,861 (GRCm39) |
D515E |
probably damaging |
Het |
| Aire |
C |
A |
10: 77,872,557 (GRCm39) |
E354* |
probably null |
Het |
| AW551984 |
T |
C |
9: 39,502,568 (GRCm39) |
K670R |
probably benign |
Het |
| Bahcc1 |
T |
C |
11: 120,162,563 (GRCm39) |
V287A |
probably benign |
Het |
| Brca1 |
T |
C |
11: 101,415,002 (GRCm39) |
N1044S |
possibly damaging |
Het |
| Bub1b |
T |
A |
2: 118,467,230 (GRCm39) |
I851N |
probably damaging |
Het |
| Ceacam11 |
A |
T |
7: 17,707,323 (GRCm39) |
I36F |
possibly damaging |
Het |
| Copa |
A |
G |
1: 171,940,756 (GRCm39) |
E714G |
probably benign |
Het |
| Cth |
A |
T |
3: 157,630,572 (GRCm39) |
N32K |
probably benign |
Het |
| Cyp2a5 |
T |
A |
7: 26,540,434 (GRCm39) |
M349K |
probably damaging |
Het |
| D130052B06Rik |
A |
G |
11: 33,573,966 (GRCm39) |
S188G |
unknown |
Het |
| Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
| Flt1 |
T |
C |
5: 147,508,271 (GRCm39) |
N1161S |
probably benign |
Het |
| Hip1 |
T |
C |
5: 135,573,917 (GRCm39) |
|
probably benign |
Het |
| Mapk11 |
A |
G |
15: 89,031,046 (GRCm39) |
|
probably benign |
Het |
| Mtif2 |
A |
G |
11: 29,494,417 (GRCm39) |
|
probably benign |
Het |
| Myo1f |
C |
A |
17: 33,802,654 (GRCm39) |
|
probably benign |
Het |
| Nipsnap1 |
G |
A |
11: 4,839,912 (GRCm39) |
R211H |
probably damaging |
Het |
| Or52ab4 |
A |
G |
7: 102,987,435 (GRCm39) |
H58R |
probably damaging |
Het |
| Or6c35 |
T |
C |
10: 129,169,326 (GRCm39) |
I192T |
probably benign |
Het |
| Pcdh1 |
A |
T |
18: 38,336,302 (GRCm39) |
I111N |
probably damaging |
Het |
| Piezo2 |
T |
A |
18: 63,175,859 (GRCm39) |
I1841F |
probably damaging |
Het |
| Pirb |
G |
T |
7: 3,720,175 (GRCm39) |
Y399* |
probably null |
Het |
| Ppp1r36 |
A |
T |
12: 76,486,006 (GRCm39) |
N388I |
possibly damaging |
Het |
| Prr16 |
A |
G |
18: 51,436,061 (GRCm39) |
D180G |
possibly damaging |
Het |
| Spopfm2 |
T |
A |
3: 94,083,544 (GRCm39) |
K89M |
probably damaging |
Het |
| Trank1 |
T |
A |
9: 111,178,431 (GRCm39) |
V373D |
probably damaging |
Het |
| Ubn1 |
A |
G |
16: 4,889,923 (GRCm39) |
E186G |
probably damaging |
Het |
| Zmym2 |
T |
C |
14: 57,184,029 (GRCm39) |
V997A |
probably benign |
Het |
|
| Other mutations in Prss39 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01432:Prss39
|
APN |
1 |
34,541,216 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01468:Prss39
|
APN |
1 |
34,538,481 (GRCm39) |
splice site |
probably benign |
|
|
IGL02224:Prss39
|
APN |
1 |
34,538,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0128:Prss39
|
UTSW |
1 |
34,541,281 (GRCm39) |
unclassified |
probably benign |
|
|
R0130:Prss39
|
UTSW |
1 |
34,541,281 (GRCm39) |
unclassified |
probably benign |
|
|
R0269:Prss39
|
UTSW |
1 |
34,539,279 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0617:Prss39
|
UTSW |
1 |
34,539,279 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1078:Prss39
|
UTSW |
1 |
34,541,167 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1539:Prss39
|
UTSW |
1 |
34,537,616 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1796:Prss39
|
UTSW |
1 |
34,539,114 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4644:Prss39
|
UTSW |
1 |
34,541,207 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5417:Prss39
|
UTSW |
1 |
34,539,209 (GRCm39) |
missense |
probably benign |
|
|
R5496:Prss39
|
UTSW |
1 |
34,539,342 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5511:Prss39
|
UTSW |
1 |
34,541,878 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5977:Prss39
|
UTSW |
1 |
34,541,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6333:Prss39
|
UTSW |
1 |
34,539,150 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6833:Prss39
|
UTSW |
1 |
34,537,697 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6834:Prss39
|
UTSW |
1 |
34,537,697 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7230:Prss39
|
UTSW |
1 |
34,541,228 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7261:Prss39
|
UTSW |
1 |
34,539,369 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7467:Prss39
|
UTSW |
1 |
34,538,473 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7509:Prss39
|
UTSW |
1 |
34,539,280 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7709:Prss39
|
UTSW |
1 |
34,541,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7894:Prss39
|
UTSW |
1 |
34,539,308 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8730:Prss39
|
UTSW |
1 |
34,539,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9405:Prss39
|
UTSW |
1 |
34,538,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-02-04 |
Incidental Mutation