Incidental Mutation 'IGL01350:Tmprss5'
| ID |
75338 |
| 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 # |
IGL01350
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
49013994-49028891 bp(+) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
T to A
at 49020757 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Lysine
at position 84
(*84K)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070390]
[ENSMUST00000165088]
[ENSMUST00000165088]
[ENSMUST00000166272]
[ENSMUST00000167095]
[ENSMUST00000170246]
|
| AlphaFold |
Q9ER04 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000070390
|
| SMART Domains |
Protein: ENSMUSP00000064527
Gene: ENSMUSG00000032268
| 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 null
Transcript: ENSMUST00000165088
|
| SMART Domains |
Protein: ENSMUSP00000132181
Gene: ENSMUSG00000032268
| 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 null
Transcript: ENSMUST00000165088
|
| SMART Domains |
Protein: ENSMUSP00000132181
Gene: ENSMUSG00000032268
| 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 |
probably null
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 null
Transcript: ENSMUST00000170246
|
| SMART Domains |
Protein: ENSMUSP00000129482
Gene: ENSMUSG00000032268
| 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 null
Transcript: ENSMUST00000170426
AA Change: *84K
|
| SMART Domains |
Protein: ENSMUSP00000128662
Gene: ENSMUSG00000032268
AA Change: *84K
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
A |
G |
16: 20,187,208 (GRCm39) |
I926T |
probably benign |
Het |
| Adam39 |
T |
A |
8: 41,278,876 (GRCm39) |
C422* |
probably null |
Het |
| Aldh1l1 |
A |
G |
6: 90,536,338 (GRCm39) |
N81S |
probably damaging |
Het |
| Amd1 |
A |
T |
10: 40,166,186 (GRCm39) |
Y264* |
probably null |
Het |
| Axl |
T |
C |
7: 25,458,175 (GRCm39) |
Y851C |
probably damaging |
Het |
| Ccdc70 |
T |
C |
8: 22,463,690 (GRCm39) |
L160P |
probably damaging |
Het |
| Cd2ap |
A |
T |
17: 43,136,812 (GRCm39) |
Y273* |
probably null |
Het |
| Cyb5rl |
T |
C |
4: 106,941,409 (GRCm39) |
V278A |
possibly damaging |
Het |
| Cyp2c29 |
T |
C |
19: 39,318,771 (GRCm39) |
F417S |
probably damaging |
Het |
| Dnah7b |
C |
A |
1: 46,120,592 (GRCm39) |
|
probably benign |
Het |
| Epha4 |
A |
T |
1: 77,483,492 (GRCm39) |
D172E |
probably damaging |
Het |
| Eya4 |
T |
A |
10: 22,989,873 (GRCm39) |
I495F |
possibly damaging |
Het |
| Gpr150 |
A |
T |
13: 76,204,542 (GRCm39) |
H134Q |
probably benign |
Het |
| Gpr153 |
T |
G |
4: 152,366,423 (GRCm39) |
|
probably benign |
Het |
| Hipk2 |
A |
G |
6: 38,795,250 (GRCm39) |
Y333H |
probably damaging |
Het |
| Jakmip1 |
T |
C |
5: 37,242,775 (GRCm39) |
M21T |
probably benign |
Het |
| Kcnh3 |
A |
T |
15: 99,139,873 (GRCm39) |
I920F |
probably benign |
Het |
| Lrp2 |
G |
A |
2: 69,341,328 (GRCm39) |
R951C |
probably damaging |
Het |
| Msi1 |
A |
G |
5: 115,573,580 (GRCm39) |
K126R |
possibly damaging |
Het |
| Nkx2-6 |
T |
A |
14: 69,412,222 (GRCm39) |
F130Y |
probably damaging |
Het |
| Onecut2 |
T |
A |
18: 64,474,160 (GRCm39) |
L218Q |
probably damaging |
Het |
| Or12j4 |
G |
T |
7: 140,046,292 (GRCm39) |
M59I |
probably damaging |
Het |
| Or5p6 |
T |
C |
7: 107,630,887 (GRCm39) |
Y221C |
probably damaging |
Het |
| Or8j3 |
A |
G |
2: 86,028,149 (GRCm39) |
*316Q |
probably null |
Het |
| Pah |
T |
A |
10: 87,414,221 (GRCm39) |
|
probably benign |
Het |
| Per2 |
C |
T |
1: 91,358,583 (GRCm39) |
E602K |
probably damaging |
Het |
| Plb1 |
C |
T |
5: 32,474,408 (GRCm39) |
T623M |
probably damaging |
Het |
| Prkaa2 |
T |
C |
4: 104,909,109 (GRCm39) |
|
probably null |
Het |
| Prl7b1 |
T |
A |
13: 27,786,804 (GRCm39) |
T142S |
probably damaging |
Het |
| Psd3 |
T |
C |
8: 68,173,544 (GRCm39) |
H1090R |
probably damaging |
Het |
| Siglecf |
G |
T |
7: 43,005,319 (GRCm39) |
|
probably benign |
Het |
| Tas2r118 |
A |
G |
6: 23,969,746 (GRCm39) |
V105A |
probably damaging |
Het |
| Thnsl1 |
T |
C |
2: 21,217,011 (GRCm39) |
V255A |
probably benign |
Het |
| Trrap |
C |
T |
5: 144,767,779 (GRCm39) |
L2579F |
possibly damaging |
Het |
| Vdac1 |
A |
G |
11: 52,276,489 (GRCm39) |
T211A |
probably benign |
Het |
| Vmn1r16 |
A |
T |
6: 57,299,716 (GRCm39) |
V302D |
possibly damaging |
Het |
| Wdr75 |
T |
A |
1: 45,857,420 (GRCm39) |
C572* |
probably null |
Het |
| Xpc |
A |
G |
6: 91,476,993 (GRCm39) |
S369P |
probably benign |
Het |
| Zdhhc20 |
A |
G |
14: 58,111,444 (GRCm39) |
V52A |
probably benign |
Het |
| Zfp977 |
T |
C |
7: 42,230,090 (GRCm39) |
Y145C |
probably damaging |
Het |
|
| Other mutations in Tmprss5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02705:Tmprss5
|
APN |
9 |
49,018,447 (GRCm39) |
missense |
probably benign |
0.19 |
|
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 |
2013-10-07 |
Incidental Mutation