Incidental Mutation 'R8279:Tmprss3'
ID |
638128 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmprss3
|
Ensembl Gene |
ENSMUSG00000024034 |
Gene Name |
transmembrane protease, serine 3 |
Synonyms |
|
MMRRC Submission |
067702-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.052)
|
Stock # |
R8279 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
31398239-31417951 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 31416709 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 9
(V9E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110196
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024833]
[ENSMUST00000114549]
|
AlphaFold |
Q8K1T0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000024833
|
SMART Domains |
Protein: ENSMUSP00000024833 Gene: ENSMUSG00000024034
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 benign
Transcript: ENSMUST00000114549
AA Change: V9E
PolyPhen 2
Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000110196 Gene: ENSMUSG00000024034 AA Change: V9E
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 |
0.0846 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
100% (33/33) |
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb11 |
T |
C |
2: 69,069,549 (GRCm39) |
N1282S |
probably benign |
Het |
Als2cl |
A |
G |
9: 110,723,653 (GRCm39) |
H683R |
probably damaging |
Het |
Ank2 |
C |
T |
3: 126,726,820 (GRCm39) |
D825N |
probably benign |
Het |
Aven |
C |
T |
2: 112,390,120 (GRCm39) |
R8W |
probably benign |
Het |
Axl |
C |
T |
7: 25,463,379 (GRCm39) |
D633N |
probably benign |
Het |
C3 |
A |
G |
17: 57,522,809 (GRCm39) |
V1025A |
probably benign |
Het |
Cc2d2a |
T |
C |
5: 43,893,487 (GRCm39) |
S1489P |
probably benign |
Het |
Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
Cdk14 |
G |
A |
5: 5,316,125 (GRCm39) |
|
probably benign |
Het |
Clpb |
T |
C |
7: 101,355,695 (GRCm39) |
V183A |
possibly damaging |
Het |
Cpa3 |
C |
T |
3: 20,277,478 (GRCm39) |
M232I |
possibly damaging |
Het |
Cyp2j7 |
A |
G |
4: 96,116,796 (GRCm39) |
|
probably null |
Het |
Dnah2 |
A |
G |
11: 69,366,399 (GRCm39) |
I1907T |
probably damaging |
Het |
Efemp1 |
T |
C |
11: 28,871,795 (GRCm39) |
F437L |
possibly damaging |
Het |
Fat1 |
T |
A |
8: 45,483,384 (GRCm39) |
|
probably null |
Het |
Fry |
A |
T |
5: 150,419,726 (GRCm39) |
T599S |
|
Het |
Gm10142 |
T |
A |
10: 77,552,001 (GRCm39) |
*121R |
probably null |
Het |
Kcng3 |
A |
C |
17: 83,895,254 (GRCm39) |
F404C |
probably damaging |
Het |
Mefv |
T |
G |
16: 3,533,086 (GRCm39) |
H395P |
unknown |
Het |
Mrc1 |
T |
A |
2: 14,271,168 (GRCm39) |
D357E |
possibly damaging |
Het |
Muc15 |
A |
G |
2: 110,562,052 (GRCm39) |
T163A |
probably benign |
Het |
Ncdn |
T |
C |
4: 126,644,199 (GRCm39) |
T208A |
probably benign |
Het |
Or2q1 |
A |
T |
6: 42,794,557 (GRCm39) |
I51F |
probably damaging |
Het |
Or8b54 |
G |
A |
9: 38,686,577 (GRCm39) |
V9M |
noncoding transcript |
Het |
Pdpk1 |
A |
G |
17: 24,307,147 (GRCm39) |
S395P |
probably benign |
Het |
Slc27a6 |
T |
C |
18: 58,705,251 (GRCm39) |
V211A |
probably benign |
Het |
Slco3a1 |
T |
C |
7: 73,934,144 (GRCm39) |
D676G |
possibly damaging |
Het |
Slfn4 |
T |
G |
11: 83,077,482 (GRCm39) |
M90R |
possibly damaging |
Het |
Ssbp4 |
T |
C |
8: 71,054,955 (GRCm39) |
D68G |
probably damaging |
Het |
Sval3 |
A |
G |
6: 41,949,371 (GRCm39) |
T70A |
possibly damaging |
Het |
Taf1c |
C |
T |
8: 120,325,750 (GRCm39) |
R704Q |
probably benign |
Het |
Tex15 |
T |
A |
8: 34,061,765 (GRCm39) |
D398E |
probably damaging |
Het |
Vps35l |
T |
A |
7: 118,345,722 (GRCm39) |
M109K |
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 |
R4001:Tmprss3
|
UTSW |
17 |
31,405,533 (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 |
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'- AGACTGTAAGAGGGGATCCC -3'
(R):5'- AAGCCACTCTGCGATTTTCTG -3'
Sequencing Primer
(F):5'- GACACTTGACCACATTCATCCCTC -3'
(R):5'- CGATTTTCTGTGGTCTCGAGAAAG -3'
|
Posted On |
2020-07-28 |