Incidental Mutation 'IGL03072:Tmprss5'
| ID |
417554 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tmprss5
|
| Ensembl Gene |
ENSMUSG00000032268 |
| Gene Name |
transmembrane protease, serine 5 (spinesin) |
| Synonyms |
spinesin |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
IGL03072
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
49013994-49028891 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 49020318 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 99
(N99K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129482
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070390]
[ENSMUST00000165088]
[ENSMUST00000166272]
[ENSMUST00000167095]
[ENSMUST00000170246]
|
| AlphaFold |
Q9ER04 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000070390
AA Change: N105K
PolyPhen 2
Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000064527
Gene: ENSMUSG00000032268
AA Change: N105K
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
38 |
60 |
N/A |
INTRINSIC |
|
Pfam:SRCR_2
|
106 |
203 |
4.2e-38 |
PFAM |
|
Tryp_SPc
|
207 |
438 |
1.28e-90 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165088
AA Change: N115K
PolyPhen 2
Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000132181
Gene: ENSMUSG00000032268
AA Change: N115K
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
48 |
70 |
N/A |
INTRINSIC |
|
Pfam:SRCR_2
|
116 |
213 |
2.9e-38 |
PFAM |
|
Tryp_SPc
|
217 |
448 |
1.28e-90 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166272
|
| SMART Domains |
Protein: ENSMUSP00000130069
Gene: ENSMUSG00000032268
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
50 |
72 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000167095
AA Change: N41K
PolyPhen 2
Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000131650
Gene: ENSMUSG00000032268
AA Change: N41K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SRCR_2
|
42 |
139 |
1.1e-38 |
PFAM |
|
Tryp_SPc
|
143 |
374 |
1.28e-90 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000170246
AA Change: N99K
PolyPhen 2
Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000129482
Gene: ENSMUSG00000032268
AA Change: N99K
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
38 |
60 |
N/A |
INTRINSIC |
|
Pfam:SRCR_2
|
100 |
197 |
1.4e-38 |
PFAM |
|
Tryp_SPc
|
201 |
432 |
1.28e-90 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000170426
AA Change: N5K
|
| SMART Domains |
Protein: ENSMUSP00000128662
Gene: ENSMUSG00000032268
AA Change: N5K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SRCR_2
|
7 |
84 |
3.4e-28 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171217
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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. Serine proteases are known to be involved in many physiological and pathological processes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
G |
A |
13: 77,408,116 (GRCm39) |
V148I |
probably benign |
Het |
| Ahcyl2 |
T |
C |
6: 29,906,500 (GRCm39) |
|
probably benign |
Het |
| Ahnak |
T |
C |
19: 8,983,872 (GRCm39) |
S1719P |
probably benign |
Het |
| C2cd5 |
A |
G |
6: 143,025,609 (GRCm39) |
I196T |
possibly damaging |
Het |
| Cdhr2 |
A |
G |
13: 54,874,474 (GRCm39) |
I849V |
probably benign |
Het |
| Cpsf3 |
A |
G |
12: 21,345,089 (GRCm39) |
K134E |
possibly damaging |
Het |
| Dnai1 |
A |
G |
4: 41,602,979 (GRCm39) |
T161A |
probably benign |
Het |
| Gm17093 |
G |
T |
14: 44,758,129 (GRCm39) |
|
probably benign |
Het |
| Igf2bp2 |
A |
G |
16: 21,886,891 (GRCm39) |
|
probably null |
Het |
| Lcor |
T |
C |
19: 41,547,253 (GRCm39) |
V279A |
possibly damaging |
Het |
| Myo9a |
C |
A |
9: 59,716,725 (GRCm39) |
T475K |
possibly damaging |
Het |
| Nat8f4 |
A |
G |
6: 85,877,836 (GRCm39) |
|
probably benign |
Het |
| Neto1 |
A |
G |
18: 86,516,714 (GRCm39) |
T344A |
probably benign |
Het |
| Or6c203 |
A |
T |
10: 129,010,358 (GRCm39) |
D177E |
probably damaging |
Het |
| Or7c19 |
A |
G |
8: 85,957,139 (GRCm39) |
N5S |
probably benign |
Het |
| Or8k17 |
A |
T |
2: 86,066,804 (GRCm39) |
M118K |
probably damaging |
Het |
| Pde8a |
A |
T |
7: 80,958,557 (GRCm39) |
I312F |
probably damaging |
Het |
| Ppp3cb |
A |
G |
14: 20,581,793 (GRCm39) |
I74T |
probably damaging |
Het |
| Prom1 |
T |
C |
5: 44,216,004 (GRCm39) |
|
probably benign |
Het |
| Psg29 |
T |
C |
7: 16,942,719 (GRCm39) |
V240A |
probably benign |
Het |
| Reep4 |
T |
C |
14: 70,785,675 (GRCm39) |
S238P |
probably damaging |
Het |
| Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
| Tph1 |
G |
A |
7: 46,302,283 (GRCm39) |
T313M |
probably damaging |
Het |
| Tprn |
T |
C |
2: 25,154,530 (GRCm39) |
S611P |
probably damaging |
Het |
| Upp2 |
G |
T |
2: 58,645,435 (GRCm39) |
|
probably null |
Het |
| Vezt |
C |
A |
10: 93,809,895 (GRCm39) |
A549S |
probably damaging |
Het |
| Zfp786 |
A |
G |
6: 47,798,177 (GRCm39) |
Y254H |
probably benign |
Het |
|
| Other mutations in Tmprss5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01350:Tmprss5
|
APN |
9 |
49,020,757 (GRCm39) |
makesense |
probably null |
|
|
IGL02705:Tmprss5
|
APN |
9 |
49,018,447 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL03107:Tmprss5
|
APN |
9 |
49,024,528 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
PIT4366001:Tmprss5
|
UTSW |
9 |
49,023,517 (GRCm39) |
missense |
probably benign |
0.24 |
|
R0207:Tmprss5
|
UTSW |
9 |
49,024,460 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0477:Tmprss5
|
UTSW |
9 |
49,026,465 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1542:Tmprss5
|
UTSW |
9 |
49,020,434 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1819:Tmprss5
|
UTSW |
9 |
49,018,464 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2395:Tmprss5
|
UTSW |
9 |
49,026,435 (GRCm39) |
nonsense |
probably null |
|
|
R4600:Tmprss5
|
UTSW |
9 |
49,024,548 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R4967:Tmprss5
|
UTSW |
9 |
49,026,817 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5819:Tmprss5
|
UTSW |
9 |
49,025,779 (GRCm39) |
splice site |
probably null |
|
|
R7266:Tmprss5
|
UTSW |
9 |
49,025,841 (GRCm39) |
missense |
probably benign |
|
|
R7876:Tmprss5
|
UTSW |
9 |
49,020,391 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8354:Tmprss5
|
UTSW |
9 |
49,018,439 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R8995:Tmprss5
|
UTSW |
9 |
49,025,894 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1177:Tmprss5
|
UTSW |
9 |
49,026,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation