Incidental Mutation 'R6671:Tmprss13'
| ID |
527143 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmprss13
|
| Ensembl Gene |
ENSMUSG00000037129 |
| Gene Name |
transmembrane protease, serine 13 |
| Synonyms |
|
| MMRRC Submission |
044791-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6671 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
45230398-45258879 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 45254529 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 432
(T432M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034597
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034597]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034597
AA Change: T432M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034597
Gene: ENSMUSG00000037129
AA Change: T432M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
99 |
N/A |
INTRINSIC |
|
low complexity region
|
114 |
128 |
N/A |
INTRINSIC |
|
transmembrane domain
|
147 |
169 |
N/A |
INTRINSIC |
|
LDLa
|
171 |
209 |
2.38e-1 |
SMART |
|
SR
|
208 |
296 |
5.67e-4 |
SMART |
|
Tryp_SPc
|
306 |
535 |
1.53e-93 |
SMART |
|
| Meta Mutation Damage Score |
0.6329 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
| Validation Efficiency |
97% (32/33) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the type II transmembrane serine protease family. Transmembrane serine proteases are regulated by protease inhibitors and known to function in development, homeostasis, infection, and tumorigenesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and outwardly healthy but exhibit abnormal stratum corneum formation leading to impaired skin barrier function, as measured by the transepidermal fluid loss rate in newborn pups. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5430401F13Rik |
T |
C |
6: 131,528,313 (GRCm39) |
|
probably null |
Het |
| Abce1 |
A |
G |
8: 80,415,806 (GRCm39) |
V404A |
probably benign |
Het |
| Cpd |
T |
A |
11: 76,686,359 (GRCm39) |
I990F |
probably damaging |
Het |
| Ddhd1 |
CA |
C |
14: 45,894,689 (GRCm39) |
|
probably null |
Het |
| Dnajb6 |
A |
G |
5: 29,953,418 (GRCm39) |
E17G |
probably damaging |
Het |
| Fastk |
T |
C |
5: 24,646,607 (GRCm39) |
D308G |
probably damaging |
Het |
| Fkbp14 |
A |
G |
6: 54,556,662 (GRCm39) |
Y69H |
probably damaging |
Het |
| Gldn |
T |
C |
9: 54,245,691 (GRCm39) |
L414P |
probably damaging |
Het |
| Glmn |
T |
A |
5: 107,697,280 (GRCm39) |
M487L |
probably benign |
Het |
| Gm3404 |
C |
A |
5: 146,464,487 (GRCm39) |
R163S |
probably benign |
Het |
| Gm5591 |
T |
G |
7: 38,219,523 (GRCm39) |
D450A |
possibly damaging |
Het |
| Gucy1b1 |
T |
C |
3: 81,941,715 (GRCm39) |
T575A |
probably benign |
Het |
| Hydin |
T |
A |
8: 111,327,950 (GRCm39) |
V4819D |
probably damaging |
Het |
| Ikbip |
A |
G |
10: 90,932,469 (GRCm39) |
|
probably null |
Het |
| Mertk |
G |
T |
2: 128,593,943 (GRCm39) |
|
probably null |
Het |
| Mfsd1 |
T |
C |
3: 67,492,995 (GRCm39) |
V93A |
possibly damaging |
Het |
| Myh11 |
A |
T |
16: 14,044,480 (GRCm39) |
M641K |
possibly damaging |
Het |
| Myo3a |
A |
T |
2: 22,299,333 (GRCm39) |
N269Y |
probably damaging |
Het |
| Nisch |
A |
T |
14: 30,926,420 (GRCm39) |
|
probably benign |
Het |
| Otof |
A |
G |
5: 30,576,877 (GRCm39) |
V125A |
probably benign |
Het |
| Pla2g4a |
A |
G |
1: 149,763,382 (GRCm39) |
I93T |
probably benign |
Het |
| Prrc2c |
A |
G |
1: 162,525,154 (GRCm39) |
I484T |
probably damaging |
Het |
| Qrich1 |
T |
A |
9: 108,410,985 (GRCm39) |
I170N |
probably benign |
Het |
| Rb1 |
A |
T |
14: 73,434,706 (GRCm39) |
M904K |
probably damaging |
Het |
| Rgs11 |
A |
T |
17: 26,427,272 (GRCm39) |
K399M |
probably damaging |
Het |
| Tpp1 |
C |
T |
7: 105,398,814 (GRCm39) |
R205H |
probably benign |
Het |
| Vps53 |
A |
G |
11: 76,025,332 (GRCm39) |
Y171H |
probably damaging |
Het |
| Zbtb8b |
C |
T |
4: 129,321,577 (GRCm39) |
R395Q |
probably damaging |
Het |
| Zfp81 |
A |
T |
17: 33,554,413 (GRCm39) |
C134S |
probably benign |
Het |
| Zranb1 |
A |
G |
7: 132,573,042 (GRCm39) |
D403G |
probably damaging |
Het |
|
| Other mutations in Tmprss13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02111:Tmprss13
|
APN |
9 |
45,247,403 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02112:Tmprss13
|
APN |
9 |
45,250,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02116:Tmprss13
|
APN |
9 |
45,244,972 (GRCm39) |
missense |
probably benign |
|
|
IGL02669:Tmprss13
|
APN |
9 |
45,243,824 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL02961:Tmprss13
|
APN |
9 |
45,256,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
FR4449:Tmprss13
|
UTSW |
9 |
45,239,856 (GRCm39) |
missense |
unknown |
|
|
R0233:Tmprss13
|
UTSW |
9 |
45,248,398 (GRCm39) |
splice site |
probably benign |
|
|
R0271:Tmprss13
|
UTSW |
9 |
45,244,986 (GRCm39) |
splice site |
probably benign |
|
|
R0415:Tmprss13
|
UTSW |
9 |
45,248,430 (GRCm39) |
splice site |
probably null |
|
|
R0742:Tmprss13
|
UTSW |
9 |
45,243,765 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1178:Tmprss13
|
UTSW |
9 |
45,239,945 (GRCm39) |
missense |
unknown |
|
|
R1447:Tmprss13
|
UTSW |
9 |
45,239,878 (GRCm39) |
missense |
unknown |
|
|
R1493:Tmprss13
|
UTSW |
9 |
45,247,405 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1574:Tmprss13
|
UTSW |
9 |
45,254,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1574:Tmprss13
|
UTSW |
9 |
45,254,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1599:Tmprss13
|
UTSW |
9 |
45,249,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2007:Tmprss13
|
UTSW |
9 |
45,243,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2093:Tmprss13
|
UTSW |
9 |
45,256,340 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5666:Tmprss13
|
UTSW |
9 |
45,256,253 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5670:Tmprss13
|
UTSW |
9 |
45,256,253 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6273:Tmprss13
|
UTSW |
9 |
45,256,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6343:Tmprss13
|
UTSW |
9 |
45,254,498 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6583:Tmprss13
|
UTSW |
9 |
45,256,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6777:Tmprss13
|
UTSW |
9 |
45,247,399 (GRCm39) |
nonsense |
probably null |
|
|
R7135:Tmprss13
|
UTSW |
9 |
45,249,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7468:Tmprss13
|
UTSW |
9 |
45,239,721 (GRCm39) |
missense |
unknown |
|
|
R7617:Tmprss13
|
UTSW |
9 |
45,244,858 (GRCm39) |
nonsense |
probably null |
|
|
R8062:Tmprss13
|
UTSW |
9 |
45,239,986 (GRCm39) |
missense |
unknown |
|
|
R8871:Tmprss13
|
UTSW |
9 |
45,249,704 (GRCm39) |
missense |
probably damaging |
0.97 |
|
RF009:Tmprss13
|
UTSW |
9 |
45,239,762 (GRCm39) |
small insertion |
probably benign |
|
|
RF039:Tmprss13
|
UTSW |
9 |
45,239,762 (GRCm39) |
small insertion |
probably benign |
|
|
S24628:Tmprss13
|
UTSW |
9 |
45,248,430 (GRCm39) |
splice site |
probably null |
|
|
Z1177:Tmprss13
|
UTSW |
9 |
45,254,490 (GRCm39) |
missense |
probably benign |
0.04 |
|
Z1177:Tmprss13
|
UTSW |
9 |
45,248,388 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCCCACTGATTGCTGAAAGG -3'
(R):5'- CCCAGACTAGCCTTCATCTG -3'
Sequencing Primer
(F):5'- TCATTACAAAGCCTTGGGGGACTC -3'
(R):5'- AGACTAGCCTTCATCTGCATAC -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation