Incidental Mutation 'R2395:Tmprss5'
| ID |
248495 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmprss5
|
| Ensembl Gene |
ENSMUSG00000032268 |
| Gene Name |
transmembrane protease, serine 5 (spinesin) |
| Synonyms |
spinesin |
| MMRRC Submission |
040363-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R2395 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
49013994-49028891 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 49026435 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 373
(L373*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129482
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070390]
[ENSMUST00000165088]
[ENSMUST00000166272]
[ENSMUST00000167095]
[ENSMUST00000170246]
|
| AlphaFold |
Q9ER04 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000070390
AA Change: L379*
|
| SMART Domains |
Protein: ENSMUSP00000064527
Gene: ENSMUSG00000032268
AA Change: L379*
| 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
AA Change: L389*
|
| SMART Domains |
Protein: ENSMUSP00000132181
Gene: ENSMUSG00000032268
AA Change: L389*
| 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
AA Change: L315*
|
| SMART Domains |
Protein: ENSMUSP00000131650
Gene: ENSMUSG00000032268
AA Change: L315*
| 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
AA Change: L373*
|
| SMART Domains |
Protein: ENSMUSP00000129482
Gene: ENSMUSG00000032268
AA Change: L373*
| 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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (30/30) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
A |
G |
11: 109,959,614 (GRCm39) |
Y707H |
probably damaging |
Het |
| Abcc3 |
A |
G |
11: 94,248,132 (GRCm39) |
V1156A |
possibly damaging |
Het |
| Acsl3 |
T |
C |
1: 78,683,085 (GRCm39) |
V661A |
probably benign |
Het |
| Atosb |
C |
A |
4: 43,035,964 (GRCm39) |
E256* |
probably null |
Het |
| B3glct |
A |
G |
5: 149,677,651 (GRCm39) |
T427A |
probably damaging |
Het |
| Cblc |
C |
A |
7: 19,519,305 (GRCm39) |
C341F |
probably damaging |
Het |
| Cntn2 |
T |
C |
1: 132,454,110 (GRCm39) |
S299G |
probably benign |
Het |
| Dcp1b |
T |
C |
6: 119,192,025 (GRCm39) |
S314P |
probably benign |
Het |
| Dnah6 |
T |
C |
6: 73,068,950 (GRCm39) |
|
probably null |
Het |
| Fmn1 |
A |
G |
2: 113,195,526 (GRCm39) |
T409A |
unknown |
Het |
| Hltf |
C |
T |
3: 20,146,906 (GRCm39) |
A555V |
probably benign |
Het |
| Kmt2c |
T |
C |
5: 25,520,150 (GRCm39) |
I1987V |
probably benign |
Het |
| Map3k10 |
T |
C |
7: 27,373,418 (GRCm39) |
E11G |
unknown |
Het |
| Micu1 |
G |
T |
10: 59,699,024 (GRCm39) |
E434* |
probably null |
Het |
| Mlph |
A |
G |
1: 90,861,228 (GRCm39) |
T288A |
probably benign |
Het |
| Myh13 |
A |
G |
11: 67,255,748 (GRCm39) |
E1679G |
probably benign |
Het |
| Myh15 |
A |
G |
16: 48,889,877 (GRCm39) |
N156S |
probably benign |
Het |
| Nab1 |
A |
G |
1: 52,529,741 (GRCm39) |
I52T |
probably damaging |
Het |
| Naip1 |
T |
C |
13: 100,559,614 (GRCm39) |
H1130R |
possibly damaging |
Het |
| Or10al2 |
T |
G |
17: 37,983,587 (GRCm39) |
Y224* |
probably null |
Het |
| Or8k23 |
A |
G |
2: 86,186,609 (GRCm39) |
V39A |
probably benign |
Het |
| P2rx2 |
A |
G |
5: 110,489,527 (GRCm39) |
Y136H |
probably damaging |
Het |
| Phf8-ps |
T |
C |
17: 33,284,936 (GRCm39) |
E622G |
probably benign |
Het |
| Prss40 |
A |
G |
1: 34,598,986 (GRCm39) |
V59A |
possibly damaging |
Het |
| Riox1 |
A |
T |
12: 83,997,418 (GRCm39) |
|
probably null |
Het |
| Rxrb |
T |
G |
17: 34,256,412 (GRCm39) |
C384W |
probably damaging |
Het |
| Srebf2 |
C |
T |
15: 82,076,456 (GRCm39) |
T702I |
probably benign |
Het |
| Trpm2 |
A |
C |
10: 77,783,714 (GRCm39) |
I253S |
possibly damaging |
Het |
| Ush2a |
C |
T |
1: 188,679,237 (GRCm39) |
T4815I |
probably damaging |
Het |
| Vmn2r73 |
A |
T |
7: 85,506,975 (GRCm39) |
M779K |
probably damaging |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAAGACTCTTGTCCTTTGGC -3'
(R):5'- AAATCCCTGGGTAGTCTGGC -3'
Sequencing Primer
(F):5'- GTCCTGAGGAGCTATGACTCTTC -3'
(R):5'- GGCTTCCCCAGTCCATGTG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation