Incidental Mutation 'R4001:Tmprss3'
| ID |
312492 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmprss3
|
| Ensembl Gene |
ENSMUSG00000024034 |
| Gene Name |
transmembrane protease, serine 3 |
| Synonyms |
|
| MMRRC Submission |
040844-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R4001 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
31398239-31417951 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 31405533 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 353
(N353S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110196
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024833]
[ENSMUST00000114549]
|
| AlphaFold |
Q8K1T0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024833
AA Change: N331S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000024833
Gene: ENSMUSG00000024034
AA Change: N331S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
49 |
71 |
N/A |
INTRINSIC |
|
LDLa
|
72 |
109 |
1.76e-5 |
SMART |
|
SR
|
108 |
205 |
3.99e-4 |
SMART |
|
Tryp_SPc
|
216 |
443 |
5.22e-96 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114549
AA Change: N353S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110196
Gene: ENSMUSG00000024034
AA Change: N353S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
70 |
92 |
N/A |
INTRINSIC |
|
LDLa
|
94 |
131 |
1.76e-5 |
SMART |
|
SR
|
130 |
227 |
3.99e-4 |
SMART |
|
Tryp_SPc
|
238 |
465 |
5.22e-96 |
SMART |
|
| Meta Mutation Damage Score |
0.1001 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.6%
|
| Validation Efficiency |
100% (28/28) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the serine protease family. The encoded protein contains a serine protease domain, a transmembrane domain, an LDL receptor-like domain, and a scavenger receptor cysteine-rich domain. Serine proteases are known to be involved in a variety of biological processes, whose malfunction often leads to human diseases and disorders. This gene was identified by its association with both congenital and childhood onset autosomal recessive deafness. This gene is expressed in fetal cochlea and many other tissues, and is thought to be involved in the development and maintenance of the inner ear or the contents of the perilymph and endolymph. This gene was also identified as a tumor-associated gene that is overexpressed in ovarian tumors. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit early onset deafness and disrupted vestibular function associated with hair cell degeneration. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
C |
A |
8: 111,768,234 (GRCm39) |
H202N |
probably damaging |
Het |
| Aipl1 |
T |
A |
11: 71,922,428 (GRCm39) |
T94S |
probably damaging |
Het |
| Cdhr2 |
A |
T |
13: 54,866,079 (GRCm39) |
E293V |
probably benign |
Het |
| Chd9 |
C |
T |
8: 91,683,185 (GRCm39) |
R542C |
probably damaging |
Het |
| Clip4 |
A |
T |
17: 72,106,071 (GRCm39) |
I85L |
probably damaging |
Het |
| Cntnap5c |
G |
A |
17: 58,714,735 (GRCm39) |
|
probably null |
Het |
| Fbn1 |
A |
G |
2: 125,319,415 (GRCm39) |
|
probably null |
Het |
| Hivep2 |
A |
G |
10: 14,003,476 (GRCm39) |
R25G |
probably damaging |
Het |
| Klhdc7b |
A |
G |
15: 89,272,187 (GRCm39) |
N1023S |
probably damaging |
Het |
| Lipi |
T |
A |
16: 75,370,759 (GRCm39) |
R153* |
probably null |
Het |
| Lpcat4 |
A |
T |
2: 112,070,296 (GRCm39) |
Q3L |
probably benign |
Het |
| Naa16 |
C |
A |
14: 79,580,561 (GRCm39) |
|
probably null |
Het |
| Nalcn |
G |
T |
14: 123,834,006 (GRCm39) |
N56K |
probably damaging |
Het |
| Obscn |
C |
G |
11: 59,025,395 (GRCm39) |
A412P |
probably damaging |
Het |
| Or1e23 |
A |
G |
11: 73,407,812 (GRCm39) |
L71P |
probably damaging |
Het |
| Pde8a |
T |
A |
7: 80,967,104 (GRCm39) |
L415Q |
probably damaging |
Het |
| Ppp4r3c1 |
T |
C |
X: 88,974,116 (GRCm39) |
I694V |
probably benign |
Het |
| Rbms2 |
C |
T |
10: 127,987,169 (GRCm39) |
S13N |
probably benign |
Het |
| Rgsl1 |
A |
G |
1: 153,693,330 (GRCm39) |
L617P |
probably damaging |
Het |
| Sap18b |
T |
C |
8: 96,552,068 (GRCm39) |
V26A |
probably benign |
Het |
| Senp2 |
T |
C |
16: 21,847,318 (GRCm39) |
L282P |
possibly damaging |
Het |
| Srcap |
T |
C |
7: 127,131,339 (GRCm39) |
M826T |
probably damaging |
Het |
| Tmc3 |
T |
C |
7: 83,269,271 (GRCm39) |
S820P |
probably benign |
Het |
| Tro |
G |
A |
X: 149,438,198 (GRCm39) |
T153I |
probably benign |
Het |
| Trp53bp1 |
A |
G |
2: 121,035,566 (GRCm39) |
S1562P |
probably damaging |
Het |
| Uaca |
G |
A |
9: 60,778,366 (GRCm39) |
V916I |
probably benign |
Het |
|
| Other mutations in Tmprss3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00159:Tmprss3
|
APN |
17 |
31,413,982 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01836:Tmprss3
|
APN |
17 |
31,410,018 (GRCm39) |
missense |
probably benign |
|
|
IGL02525:Tmprss3
|
APN |
17 |
31,413,865 (GRCm39) |
splice site |
probably benign |
|
|
IGL02672:Tmprss3
|
APN |
17 |
31,409,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02900:Tmprss3
|
APN |
17 |
31,403,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0122:Tmprss3
|
UTSW |
17 |
31,412,876 (GRCm39) |
splice site |
probably benign |
|
|
R0617:Tmprss3
|
UTSW |
17 |
31,412,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5587:Tmprss3
|
UTSW |
17 |
31,412,966 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6077:Tmprss3
|
UTSW |
17 |
31,408,141 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6271:Tmprss3
|
UTSW |
17 |
31,405,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6329:Tmprss3
|
UTSW |
17 |
31,402,833 (GRCm39) |
nonsense |
probably null |
|
|
R6918:Tmprss3
|
UTSW |
17 |
31,407,331 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8279:Tmprss3
|
UTSW |
17 |
31,416,709 (GRCm39) |
missense |
probably benign |
0.20 |
|
R8372:Tmprss3
|
UTSW |
17 |
31,403,671 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8427:Tmprss3
|
UTSW |
17 |
31,407,358 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8443:Tmprss3
|
UTSW |
17 |
31,413,976 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9041:Tmprss3
|
UTSW |
17 |
31,410,014 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9315:Tmprss3
|
UTSW |
17 |
31,403,644 (GRCm39) |
missense |
probably null |
0.46 |
|
R9388:Tmprss3
|
UTSW |
17 |
31,410,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGGTGACCCACGGCTATTC -3'
(R):5'- GGACTCCTGCCACAGTTTAG -3'
Sequencing Primer
(F):5'- GTTGTGAACAGTTGGCCT -3'
(R):5'- CCACAGTTTAGGGCTACATCTGG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation