Incidental Mutation 'IGL00482:Tmprss9'
| ID |
14516 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tmprss9
|
| Ensembl Gene |
ENSMUSG00000059406 |
| Gene Name |
transmembrane protease, serine 9 |
| Synonyms |
Serase-1B |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
IGL00482
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
80707682-80735326 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 80730262 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152034
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105333]
[ENSMUST00000219817]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000105333
|
| SMART Domains |
Protein: ENSMUSP00000100970
Gene: ENSMUSG00000059406
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SEA
|
62 |
155 |
1.7e-10 |
PFAM |
|
LDLa
|
189 |
227 |
1.15e-4 |
SMART |
|
Tryp_SPc
|
238 |
467 |
2.43e-96 |
SMART |
|
low complexity region
|
477 |
502 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
539 |
767 |
7.28e-86 |
SMART |
|
Tryp_SPc
|
867 |
1093 |
1.62e-92 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219742
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000219817
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a membrane-bound type II serine polyprotease that is cleaved to release three different proteases. Two of the proteases are active and can be inhibited by serine protease inhibitors, and one is thought to be catalytically inactive. This gene enhances the invasive capability of pancreatic cancer cells and may be involved in cancer progression. [provided by RefSeq, Jul 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
A |
G |
5: 114,338,350 (GRCm39) |
T722A |
probably damaging |
Het |
| Akr1b10 |
G |
T |
6: 34,365,837 (GRCm39) |
|
probably benign |
Het |
| Amy1 |
G |
T |
3: 113,349,781 (GRCm39) |
T463K |
probably damaging |
Het |
| Arid4b |
T |
C |
13: 14,365,719 (GRCm39) |
|
probably benign |
Het |
| Arl2 |
A |
G |
19: 6,191,082 (GRCm39) |
L17P |
probably damaging |
Het |
| C2cd2 |
T |
C |
16: 97,671,420 (GRCm39) |
E493G |
probably damaging |
Het |
| Cdk19 |
A |
G |
10: 40,345,644 (GRCm39) |
E239G |
possibly damaging |
Het |
| Cit |
A |
G |
5: 116,076,814 (GRCm39) |
D719G |
probably damaging |
Het |
| Commd3 |
T |
C |
2: 18,678,739 (GRCm39) |
V58A |
possibly damaging |
Het |
| Cyp2c29 |
A |
C |
19: 39,313,467 (GRCm39) |
D360A |
probably damaging |
Het |
| Eps8 |
A |
G |
6: 137,482,477 (GRCm39) |
Y492H |
probably benign |
Het |
| Gk |
A |
G |
X: 84,804,207 (GRCm39) |
L78P |
possibly damaging |
Het |
| Gm5884 |
A |
T |
6: 128,623,166 (GRCm39) |
|
noncoding transcript |
Het |
| Lat2 |
A |
T |
5: 134,635,630 (GRCm39) |
|
probably null |
Het |
| Lrrc4c |
C |
A |
2: 97,460,730 (GRCm39) |
S452* |
probably null |
Het |
| Ntsr2 |
T |
C |
12: 16,709,849 (GRCm39) |
C377R |
probably damaging |
Het |
| Padi3 |
A |
C |
4: 140,530,935 (GRCm39) |
M29R |
possibly damaging |
Het |
| Pcdh9 |
A |
G |
14: 93,564,130 (GRCm39) |
S1067P |
probably damaging |
Het |
| Prrc2a |
T |
C |
17: 35,373,959 (GRCm39) |
D1462G |
probably damaging |
Het |
| Rassf4 |
A |
G |
6: 116,622,089 (GRCm39) |
F168L |
possibly damaging |
Het |
| Serpinb1c |
T |
C |
13: 33,067,958 (GRCm39) |
K213E |
probably damaging |
Het |
| Siglec1 |
C |
T |
2: 130,921,245 (GRCm39) |
R642Q |
probably benign |
Het |
| Snrnp200 |
T |
G |
2: 127,072,055 (GRCm39) |
V1214G |
possibly damaging |
Het |
| Sorcs3 |
G |
A |
19: 48,592,303 (GRCm39) |
G323S |
probably benign |
Het |
| Spidr |
A |
G |
16: 15,932,833 (GRCm39) |
V149A |
possibly damaging |
Het |
| Stat4 |
A |
T |
1: 52,113,856 (GRCm39) |
I189F |
probably benign |
Het |
| Tep1 |
T |
C |
14: 51,080,641 (GRCm39) |
Y1387C |
probably damaging |
Het |
|
| Other mutations in Tmprss9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00990:Tmprss9
|
APN |
10 |
80,728,126 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL01710:Tmprss9
|
APN |
10 |
80,733,793 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03075:Tmprss9
|
APN |
10 |
80,719,863 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL03132:Tmprss9
|
APN |
10 |
80,730,699 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0142:Tmprss9
|
UTSW |
10 |
80,730,212 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0546:Tmprss9
|
UTSW |
10 |
80,735,157 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1171:Tmprss9
|
UTSW |
10 |
80,715,692 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1296:Tmprss9
|
UTSW |
10 |
80,726,279 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1302:Tmprss9
|
UTSW |
10 |
80,730,963 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1498:Tmprss9
|
UTSW |
10 |
80,730,934 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1706:Tmprss9
|
UTSW |
10 |
80,734,021 (GRCm39) |
unclassified |
probably benign |
|
|
R1851:Tmprss9
|
UTSW |
10 |
80,728,119 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2096:Tmprss9
|
UTSW |
10 |
80,725,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2198:Tmprss9
|
UTSW |
10 |
80,723,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3783:Tmprss9
|
UTSW |
10 |
80,723,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5682:Tmprss9
|
UTSW |
10 |
80,733,207 (GRCm39) |
splice site |
probably null |
|
|
R5868:Tmprss9
|
UTSW |
10 |
80,718,580 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6006:Tmprss9
|
UTSW |
10 |
80,719,555 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6542:Tmprss9
|
UTSW |
10 |
80,724,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6676:Tmprss9
|
UTSW |
10 |
80,734,145 (GRCm39) |
unclassified |
probably benign |
|
|
R6718:Tmprss9
|
UTSW |
10 |
80,726,198 (GRCm39) |
missense |
probably benign |
|
|
R7062:Tmprss9
|
UTSW |
10 |
80,730,883 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7316:Tmprss9
|
UTSW |
10 |
80,730,813 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7337:Tmprss9
|
UTSW |
10 |
80,718,504 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7624:Tmprss9
|
UTSW |
10 |
80,728,053 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7659:Tmprss9
|
UTSW |
10 |
80,728,843 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7770:Tmprss9
|
UTSW |
10 |
80,733,903 (GRCm39) |
splice site |
probably null |
|
|
R7810:Tmprss9
|
UTSW |
10 |
80,733,145 (GRCm39) |
missense |
unknown |
|
|
R8177:Tmprss9
|
UTSW |
10 |
80,730,882 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8324:Tmprss9
|
UTSW |
10 |
80,733,205 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8354:Tmprss9
|
UTSW |
10 |
80,723,320 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8454:Tmprss9
|
UTSW |
10 |
80,723,320 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8456:Tmprss9
|
UTSW |
10 |
80,730,251 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8729:Tmprss9
|
UTSW |
10 |
80,726,177 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8968:Tmprss9
|
UTSW |
10 |
80,730,163 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9010:Tmprss9
|
UTSW |
10 |
80,733,701 (GRCm39) |
missense |
unknown |
|
|
R9336:Tmprss9
|
UTSW |
10 |
80,730,787 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9529:Tmprss9
|
UTSW |
10 |
80,730,640 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9786:Tmprss9
|
UTSW |
10 |
80,734,042 (GRCm39) |
missense |
unknown |
|
|
R9789:Tmprss9
|
UTSW |
10 |
80,730,993 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0062:Tmprss9
|
UTSW |
10 |
80,719,772 (GRCm39) |
splice site |
probably null |
|
|
X0066:Tmprss9
|
UTSW |
10 |
80,729,064 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Tmprss9
|
UTSW |
10 |
80,724,256 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1177:Tmprss9
|
UTSW |
10 |
80,723,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation