Incidental Mutation 'R2198:Tmprss9'
| ID |
238507 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmprss9
|
| Ensembl Gene |
ENSMUSG00000059406 |
| Gene Name |
transmembrane protease, serine 9 |
| Synonyms |
Serase-1B |
| MMRRC Submission |
040200-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R2198 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
80707682-80735326 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 80723293 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 251
(P251L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152034
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105333]
[ENSMUST00000219817]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105333
AA Change: P251L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000100970
Gene: ENSMUSG00000059406
AA Change: P251L
| 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 damaging
Transcript: ENSMUST00000219817
AA Change: P251L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.5552 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
98% (60/61) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adra1a |
T |
C |
14: 66,875,385 (GRCm39) |
I120T |
probably damaging |
Het |
| Akr1c21 |
C |
T |
13: 4,627,464 (GRCm39) |
P186L |
probably damaging |
Het |
| Alpk2 |
T |
C |
18: 65,483,255 (GRCm39) |
K251R |
probably benign |
Het |
| Ank2 |
T |
C |
3: 126,728,226 (GRCm39) |
E789G |
possibly damaging |
Het |
| Bag3 |
AAAGG |
AAAGGAAGG |
7: 128,147,493 (GRCm39) |
|
probably null |
Het |
| Cacna2d4 |
T |
C |
6: 119,324,220 (GRCm39) |
|
probably benign |
Het |
| Carf |
G |
A |
1: 60,180,643 (GRCm39) |
R355H |
probably damaging |
Het |
| Cdh20 |
A |
T |
1: 104,875,047 (GRCm39) |
|
probably null |
Het |
| Celf6 |
G |
T |
9: 59,510,622 (GRCm39) |
L169F |
possibly damaging |
Het |
| Cep295nl |
A |
T |
11: 118,223,419 (GRCm39) |
I475N |
probably benign |
Het |
| Chdh |
T |
A |
14: 29,753,489 (GRCm39) |
S133T |
possibly damaging |
Het |
| Cnot6l |
C |
T |
5: 96,227,800 (GRCm39) |
D478N |
possibly damaging |
Het |
| Ctnna3 |
C |
A |
10: 64,838,524 (GRCm39) |
T867K |
probably benign |
Het |
| Ctse |
T |
G |
1: 131,600,185 (GRCm39) |
Y311* |
probably null |
Het |
| Ddx60 |
T |
A |
8: 62,411,097 (GRCm39) |
M453K |
possibly damaging |
Het |
| Dnah9 |
A |
G |
11: 65,750,325 (GRCm39) |
F3927L |
possibly damaging |
Het |
| Dsg4 |
T |
C |
18: 20,594,499 (GRCm39) |
S543P |
probably benign |
Het |
| Dspp |
A |
T |
5: 104,323,567 (GRCm39) |
T237S |
probably benign |
Het |
| Eml6 |
T |
G |
11: 29,800,935 (GRCm39) |
H357P |
probably benign |
Het |
| Epha3 |
T |
C |
16: 63,664,507 (GRCm39) |
I38V |
possibly damaging |
Het |
| Erap1 |
C |
T |
13: 74,794,806 (GRCm39) |
T155I |
probably damaging |
Het |
| Erh |
T |
C |
12: 80,689,559 (GRCm39) |
|
probably benign |
Het |
| F5 |
A |
T |
1: 164,034,603 (GRCm39) |
K1834M |
probably damaging |
Het |
| Fyn |
A |
G |
10: 39,405,541 (GRCm39) |
E269G |
probably benign |
Het |
| Gm4884 |
A |
G |
7: 40,690,229 (GRCm39) |
T42A |
probably benign |
Het |
| Grm1 |
T |
G |
10: 10,658,520 (GRCm39) |
R323S |
probably damaging |
Het |
| Gstt4 |
T |
C |
10: 75,658,235 (GRCm39) |
D8G |
probably damaging |
Het |
| Gvin-ps3 |
T |
A |
7: 105,682,758 (GRCm39) |
M166L |
probably benign |
Het |
| Ldlr |
A |
G |
9: 21,643,698 (GRCm39) |
D94G |
probably damaging |
Het |
| Mrpl54 |
G |
A |
10: 81,101,575 (GRCm39) |
|
probably null |
Het |
| Naip2 |
A |
T |
13: 100,289,100 (GRCm39) |
F1210Y |
probably damaging |
Het |
| Nifk |
A |
G |
1: 118,257,130 (GRCm39) |
R88G |
probably benign |
Het |
| Nlgn1 |
C |
T |
3: 25,487,925 (GRCm39) |
M803I |
probably damaging |
Het |
| Or2r11 |
A |
G |
6: 42,437,950 (GRCm39) |
M1T |
probably null |
Het |
| Or2y16 |
C |
T |
11: 49,334,786 (GRCm39) |
S36F |
probably benign |
Het |
| Or6c88 |
T |
A |
10: 129,406,915 (GRCm39) |
Y130* |
probably null |
Het |
| Or8g18 |
G |
A |
9: 39,149,048 (GRCm39) |
T224I |
possibly damaging |
Het |
| Pip4k2a |
A |
T |
2: 18,852,466 (GRCm39) |
M272K |
probably damaging |
Het |
| Ppp1cb |
G |
T |
5: 32,640,704 (GRCm39) |
C139F |
probably damaging |
Het |
| Rad23b |
G |
A |
4: 55,385,497 (GRCm39) |
G345R |
possibly damaging |
Het |
| Shc4 |
A |
T |
2: 125,481,266 (GRCm39) |
V548E |
possibly damaging |
Het |
| Slc26a9 |
A |
G |
1: 131,691,001 (GRCm39) |
|
probably benign |
Het |
| Slc8a1 |
T |
A |
17: 81,715,685 (GRCm39) |
K783* |
probably null |
Het |
| Sobp |
A |
C |
10: 42,898,520 (GRCm39) |
I355S |
possibly damaging |
Het |
| Thbs4 |
A |
G |
13: 92,899,779 (GRCm39) |
Y491H |
possibly damaging |
Het |
| Tle2 |
T |
C |
10: 81,426,147 (GRCm39) |
V727A |
probably damaging |
Het |
| Tnks |
A |
T |
8: 35,315,803 (GRCm39) |
D994E |
probably benign |
Het |
| Tnks |
C |
T |
8: 35,340,221 (GRCm39) |
D466N |
probably benign |
Het |
| Tonsl |
A |
G |
15: 76,520,872 (GRCm39) |
F394L |
probably benign |
Het |
| Trpa1 |
T |
A |
1: 14,980,970 (GRCm39) |
Y144F |
probably benign |
Het |
| Usp22 |
A |
G |
11: 61,050,163 (GRCm39) |
F324S |
probably damaging |
Het |
| Vmn1r78 |
G |
T |
7: 11,886,487 (GRCm39) |
V33F |
probably benign |
Het |
| Wdr81 |
C |
T |
11: 75,336,907 (GRCm39) |
R1494Q |
probably benign |
Het |
| Wdr87-ps |
G |
T |
7: 29,226,697 (GRCm39) |
|
noncoding transcript |
Het |
| Zc3h14 |
G |
A |
12: 98,719,068 (GRCm39) |
M144I |
probably damaging |
Het |
| Zc3h14 |
G |
A |
12: 98,719,069 (GRCm39) |
V145M |
possibly damaging |
Het |
| Zfp82 |
T |
C |
7: 29,756,936 (GRCm39) |
T49A |
probably benign |
Het |
|
| Other mutations in Tmprss9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00482:Tmprss9
|
APN |
10 |
80,730,262 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCAAGCCCCAAATAACAAGTG -3'
(R):5'- GCACATACAGATGCTAAATAAAAGCT -3'
Sequencing Primer
(F):5'- TGGGGGAATGCCTTGAACC -3'
(R):5'- CCATTCTCTATAGGAGTCAGGCATG -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation