Incidental Mutation 'IGL02705:Tmprss5'
| ID |
304308 |
| 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 # |
IGL02705
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
49013994-49028891 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 49018447 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 92
(N92K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130069
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070390]
[ENSMUST00000165088]
[ENSMUST00000166272]
[ENSMUST00000167095]
[ENSMUST00000170246]
|
| AlphaFold |
Q9ER04 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070390
AA Change: N82K
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000064527
Gene: ENSMUSG00000032268
AA Change: N82K
| 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 |
probably benign
Transcript: ENSMUST00000165088
AA Change: N92K
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000132181
Gene: ENSMUSG00000032268
AA Change: N92K
| 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
AA Change: N92K
PolyPhen 2
Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000130069
Gene: ENSMUSG00000032268
AA Change: N92K
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
50 |
72 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167095
|
| SMART Domains |
Protein: ENSMUSP00000131650
Gene: ENSMUSG00000032268
| 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 |
probably benign
Transcript: ENSMUST00000170246
AA Change: N76K
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000129482
Gene: ENSMUSG00000032268
AA Change: N76K
| 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 |
probably benign
Transcript: ENSMUST00000170426
|
| SMART Domains |
Protein: ENSMUSP00000128662
Gene: ENSMUSG00000032268
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700025G04Rik |
A |
G |
1: 151,791,264 (GRCm39) |
F99S |
probably damaging |
Het |
| Ankrd17 |
G |
A |
5: 90,430,974 (GRCm39) |
P937S |
probably benign |
Het |
| Apom |
T |
G |
17: 35,349,471 (GRCm39) |
|
probably null |
Het |
| Baz2b |
A |
G |
2: 59,778,604 (GRCm39) |
I752T |
possibly damaging |
Het |
| Bcat1 |
T |
C |
6: 144,964,914 (GRCm39) |
|
probably benign |
Het |
| Bcl9 |
A |
G |
3: 97,112,181 (GRCm39) |
F1425L |
possibly damaging |
Het |
| Bco1 |
G |
A |
8: 117,844,242 (GRCm39) |
V319M |
possibly damaging |
Het |
| Dmwd |
C |
A |
7: 18,814,769 (GRCm39) |
T473K |
probably benign |
Het |
| Garin4 |
T |
C |
1: 190,896,499 (GRCm39) |
Y48C |
probably damaging |
Het |
| Gata2 |
C |
T |
6: 88,182,346 (GRCm39) |
A438V |
possibly damaging |
Het |
| Ifnz |
A |
G |
4: 88,701,574 (GRCm39) |
|
probably benign |
Het |
| Myh14 |
T |
C |
7: 44,257,960 (GRCm39) |
I1859V |
possibly damaging |
Het |
| Ndn |
A |
G |
7: 61,998,856 (GRCm39) |
D234G |
probably damaging |
Het |
| Nfe2l3 |
T |
C |
6: 51,410,098 (GRCm39) |
L71P |
probably damaging |
Het |
| Nfia |
T |
G |
4: 97,671,605 (GRCm39) |
L105R |
probably damaging |
Het |
| Npy2r |
T |
A |
3: 82,448,056 (GRCm39) |
T127S |
probably benign |
Het |
| Or51a8 |
T |
C |
7: 102,550,449 (GRCm39) |
Y292H |
probably damaging |
Het |
| Or7g12 |
T |
A |
9: 18,899,696 (GRCm39) |
N137K |
probably benign |
Het |
| Ppip5k2 |
A |
T |
1: 97,686,924 (GRCm39) |
C94S |
probably damaging |
Het |
| Pramel26 |
A |
G |
4: 143,537,372 (GRCm39) |
S320P |
probably damaging |
Het |
| Slc1a6 |
T |
C |
10: 78,637,788 (GRCm39) |
V438A |
probably damaging |
Het |
| Slc6a7 |
C |
T |
18: 61,142,500 (GRCm39) |
G71R |
probably damaging |
Het |
| Styk1 |
C |
T |
6: 131,289,546 (GRCm39) |
V23I |
probably benign |
Het |
| Trpm6 |
T |
G |
19: 18,754,097 (GRCm39) |
|
probably null |
Het |
| Ttn |
C |
T |
2: 76,677,114 (GRCm39) |
|
probably benign |
Het |
| Tut7 |
A |
G |
13: 59,937,017 (GRCm39) |
F808S |
probably damaging |
Het |
| Vmn2r109 |
G |
A |
17: 20,774,062 (GRCm39) |
A431V |
probably benign |
Het |
| Wdr17 |
C |
T |
8: 55,101,250 (GRCm39) |
|
probably null |
Het |
| Zfp407 |
G |
T |
18: 84,577,156 (GRCm39) |
S1319* |
probably null |
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 |
|
|
IGL03072:Tmprss5
|
APN |
9 |
49,020,318 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
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 |
2015-04-16 |
Incidental Mutation