Incidental Mutation 'R3918:Tmprss4'
| ID |
307504 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmprss4
|
| Ensembl Gene |
ENSMUSG00000032091 |
| Gene Name |
transmembrane protease, serine 4 |
| Synonyms |
|
| MMRRC Submission |
040816-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R3918 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
45084024-45115390 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 45091964 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 174
(V174M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131890
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034599]
[ENSMUST00000165263]
[ENSMUST00000170069]
|
| AlphaFold |
Q8VCA5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034599
AA Change: V174M
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000034599
Gene: ENSMUSG00000032091
AA Change: V174M
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
29 |
51 |
N/A |
INTRINSIC |
|
LDLa
|
52 |
92 |
1.55e-2 |
SMART |
|
SR
|
102 |
192 |
2.51e-7 |
SMART |
|
Tryp_SPc
|
202 |
427 |
9.03e-91 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163237
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163945
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164650
|
| SMART Domains |
Protein: ENSMUSP00000130853
Gene: ENSMUSG00000091996
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165263
AA Change: V174M
PolyPhen 2
Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000131890
Gene: ENSMUSG00000032091
AA Change: V174M
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
29 |
51 |
N/A |
INTRINSIC |
|
LDLa
|
52 |
92 |
1.55e-2 |
SMART |
|
SR
|
102 |
192 |
2.51e-7 |
SMART |
|
Tryp_SPc
|
202 |
335 |
2.26e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170069
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171277
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the serine protease family. 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 as a gene overexpressed in pancreatic carcinoma. The encoded protein is membrane bound with a N-terminal anchor sequence and a glycosylated extracellular region containing the serine protease domain. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele appear healthy and response normally to a sodium-deficient diet. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
T |
C |
8: 111,766,774 (GRCm39) |
I52T |
probably damaging |
Het |
| Adhfe1 |
G |
A |
1: 9,646,441 (GRCm39) |
R447H |
probably damaging |
Het |
| Ak7 |
A |
G |
12: 105,676,515 (GRCm39) |
K72E |
probably benign |
Het |
| Best2 |
T |
G |
8: 85,736,353 (GRCm39) |
D270A |
probably damaging |
Het |
| Brinp3 |
C |
A |
1: 146,627,599 (GRCm39) |
D277E |
probably damaging |
Het |
| Col18a1 |
T |
C |
10: 76,889,192 (GRCm39) |
M1721V |
probably benign |
Het |
| Ctnnal1 |
T |
C |
4: 56,865,000 (GRCm39) |
T39A |
possibly damaging |
Het |
| Dnah9 |
T |
A |
11: 65,761,800 (GRCm39) |
M3897L |
possibly damaging |
Het |
| Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
| Egf |
T |
C |
3: 129,490,509 (GRCm39) |
I395V |
probably null |
Het |
| Fbln5 |
C |
T |
12: 101,717,050 (GRCm39) |
G446D |
probably damaging |
Het |
| Gprc6a |
CAAA |
CA |
10: 51,491,776 (GRCm39) |
|
probably null |
Het |
| Hmcn1 |
G |
C |
1: 150,566,361 (GRCm39) |
T2214S |
probably benign |
Het |
| Lef1 |
A |
G |
3: 130,905,290 (GRCm39) |
N57S |
probably damaging |
Het |
| Lpin1 |
A |
G |
12: 16,621,190 (GRCm39) |
S266P |
probably benign |
Het |
| Marveld2 |
T |
C |
13: 100,748,401 (GRCm39) |
Q226R |
probably benign |
Het |
| Mest |
G |
A |
6: 30,742,749 (GRCm39) |
S132N |
probably benign |
Het |
| Mras |
T |
A |
9: 99,293,473 (GRCm39) |
I56F |
probably damaging |
Het |
| Myh13 |
G |
A |
11: 67,220,064 (GRCm39) |
E138K |
probably benign |
Het |
| Nsun2 |
A |
G |
13: 69,778,799 (GRCm39) |
T516A |
probably damaging |
Het |
| Ola1 |
A |
G |
2: 72,972,683 (GRCm39) |
V200A |
probably benign |
Het |
| Or5ak24 |
A |
T |
2: 85,261,074 (GRCm39) |
V33D |
possibly damaging |
Het |
| Patj |
C |
A |
4: 98,344,455 (GRCm39) |
P20H |
probably damaging |
Het |
| Pcdhb12 |
T |
A |
18: 37,570,101 (GRCm39) |
W416R |
probably benign |
Het |
| Pcdhga9 |
G |
A |
18: 37,871,995 (GRCm39) |
R608H |
probably benign |
Het |
| Pola1 |
C |
A |
X: 92,505,078 (GRCm39) |
R1313L |
probably benign |
Het |
| Ppp1r36 |
G |
A |
12: 76,464,431 (GRCm39) |
V10I |
probably benign |
Het |
| Rnf150 |
C |
T |
8: 83,591,090 (GRCm39) |
T151I |
probably benign |
Het |
| Tank |
G |
T |
2: 61,474,130 (GRCm39) |
|
probably null |
Het |
| Trappc13 |
T |
C |
13: 104,297,590 (GRCm39) |
T105A |
probably damaging |
Het |
| Tut7 |
A |
G |
13: 59,929,838 (GRCm39) |
S1066P |
probably damaging |
Het |
| Txndc9 |
G |
A |
1: 38,033,131 (GRCm39) |
Q84* |
probably null |
Het |
| Ubr3 |
A |
T |
2: 69,846,474 (GRCm39) |
|
probably null |
Het |
| Wfs1 |
C |
A |
5: 37,125,968 (GRCm39) |
V308L |
probably benign |
Het |
| Zfp51 |
A |
G |
17: 21,683,702 (GRCm39) |
K106E |
probably benign |
Het |
|
| Other mutations in Tmprss4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01936:Tmprss4
|
APN |
9 |
45,090,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0153:Tmprss4
|
UTSW |
9 |
45,095,634 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1445:Tmprss4
|
UTSW |
9 |
45,095,683 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R2359:Tmprss4
|
UTSW |
9 |
45,097,130 (GRCm39) |
missense |
probably benign |
|
|
R3919:Tmprss4
|
UTSW |
9 |
45,091,964 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4655:Tmprss4
|
UTSW |
9 |
45,087,702 (GRCm39) |
missense |
probably benign |
|
|
R4949:Tmprss4
|
UTSW |
9 |
45,086,841 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4976:Tmprss4
|
UTSW |
9 |
45,084,706 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5177:Tmprss4
|
UTSW |
9 |
45,085,260 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5918:Tmprss4
|
UTSW |
9 |
45,086,414 (GRCm39) |
nonsense |
probably null |
|
|
R6922:Tmprss4
|
UTSW |
9 |
45,097,220 (GRCm39) |
missense |
probably benign |
|
|
R7091:Tmprss4
|
UTSW |
9 |
45,095,571 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7488:Tmprss4
|
UTSW |
9 |
45,086,853 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8431:Tmprss4
|
UTSW |
9 |
45,095,661 (GRCm39) |
missense |
probably benign |
0.35 |
|
R8781:Tmprss4
|
UTSW |
9 |
45,087,740 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R9654:Tmprss4
|
UTSW |
9 |
45,090,700 (GRCm39) |
critical splice donor site |
probably null |
|
|
X0058:Tmprss4
|
UTSW |
9 |
45,089,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Tmprss4
|
UTSW |
9 |
45,086,763 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1177:Tmprss4
|
UTSW |
9 |
45,095,539 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
Z1177:Tmprss4
|
UTSW |
9 |
45,087,817 (GRCm39) |
missense |
probably benign |
0.44 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGCCTGAACGTGGAATC -3'
(R):5'- CCTTGATGTGGGGACTATTCC -3'
Sequencing Primer
(F):5'- GTGGAATCCCAAAACCCTGG -3'
(R):5'- GGGGACTATTCCTGCTATCCAG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation