Incidental Mutation 'R3919:Tmprss4'
| ID |
306899 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmprss4
|
| Ensembl Gene |
ENSMUSG00000032091 |
| Gene Name |
transmembrane protease, serine 4 |
| Synonyms |
|
| MMRRC Submission |
040817-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R3919 (G1)
|
| Quality Score |
225 |
|
Status
|
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: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
98% (49/50) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700028J19Rik |
G |
T |
7: 43,879,852 (GRCm39) |
|
probably benign |
Het |
| 4930567H17Rik |
C |
T |
X: 69,438,135 (GRCm39) |
A53T |
probably benign |
Het |
| Abcb5 |
A |
G |
12: 118,854,353 (GRCm39) |
M854T |
possibly damaging |
Het |
| Akap9 |
T |
A |
5: 4,011,764 (GRCm39) |
Y822* |
probably null |
Het |
| Apoe |
T |
C |
7: 19,430,472 (GRCm39) |
T257A |
probably benign |
Het |
| Atm |
C |
A |
9: 53,403,578 (GRCm39) |
A1365S |
probably benign |
Het |
| Bmp2k |
T |
C |
5: 97,222,599 (GRCm39) |
S674P |
unknown |
Het |
| Cd177 |
T |
C |
7: 24,443,858 (GRCm39) |
S747G |
probably benign |
Het |
| Cdk5rap2 |
A |
G |
4: 70,298,460 (GRCm39) |
F91L |
possibly damaging |
Het |
| Chil4 |
A |
T |
3: 106,109,848 (GRCm39) |
N388K |
probably benign |
Het |
| Dnah3 |
G |
A |
7: 119,550,303 (GRCm39) |
L3328F |
probably damaging |
Het |
| Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
| Ercc5 |
C |
A |
1: 44,201,091 (GRCm39) |
T217K |
probably damaging |
Het |
| Esyt1 |
T |
A |
10: 128,356,905 (GRCm39) |
|
probably benign |
Het |
| Ifih1 |
C |
A |
2: 62,453,845 (GRCm39) |
|
probably benign |
Het |
| Ints12 |
A |
T |
3: 132,806,444 (GRCm39) |
T124S |
probably benign |
Het |
| Kdm5d |
T |
C |
Y: 939,914 (GRCm39) |
L1022P |
probably damaging |
Het |
| Lama2 |
T |
A |
10: 26,994,501 (GRCm39) |
N1803Y |
probably damaging |
Het |
| Lpcat2 |
C |
T |
8: 93,640,902 (GRCm39) |
T449I |
probably damaging |
Het |
| Ly6c2 |
A |
T |
15: 74,980,613 (GRCm39) |
|
probably null |
Het |
| Mast3 |
T |
C |
8: 71,232,066 (GRCm39) |
K1304E |
probably benign |
Het |
| Mdm4 |
T |
C |
1: 132,922,306 (GRCm39) |
K279E |
possibly damaging |
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 |
| Mrgprb1 |
T |
C |
7: 48,097,829 (GRCm39) |
K28E |
probably benign |
Het |
| Myrip |
G |
A |
9: 120,261,695 (GRCm39) |
G436D |
probably damaging |
Het |
| Nr2e3 |
T |
A |
9: 59,850,723 (GRCm39) |
T379S |
probably damaging |
Het |
| Or8k27 |
A |
G |
2: 86,275,762 (GRCm39) |
V188A |
probably benign |
Het |
| Plscr3 |
T |
A |
11: 69,738,236 (GRCm39) |
|
probably benign |
Het |
| Pola1 |
C |
A |
X: 92,505,078 (GRCm39) |
R1313L |
probably benign |
Het |
| Ppt2 |
T |
C |
17: 34,841,897 (GRCm39) |
N213S |
probably damaging |
Het |
| Prelid2 |
T |
A |
18: 42,070,740 (GRCm39) |
D31V |
possibly damaging |
Het |
| Psmb9 |
C |
T |
17: 34,402,588 (GRCm39) |
|
probably null |
Het |
| Rec8 |
A |
G |
14: 55,858,716 (GRCm39) |
T164A |
probably benign |
Het |
| Rnf103 |
G |
A |
6: 71,487,331 (GRCm39) |
R654Q |
probably benign |
Het |
| Setdb2 |
T |
A |
14: 59,656,616 (GRCm39) |
I250F |
probably damaging |
Het |
| Slurp1 |
A |
T |
15: 74,598,659 (GRCm39) |
*111K |
probably null |
Het |
| Sphkap |
T |
G |
1: 83,254,179 (GRCm39) |
E903A |
probably damaging |
Het |
| Sst |
T |
C |
16: 23,708,591 (GRCm39) |
D80G |
possibly damaging |
Het |
| Stat4 |
C |
T |
1: 52,135,981 (GRCm39) |
T430I |
possibly damaging |
Het |
| Trim6 |
A |
T |
7: 103,882,057 (GRCm39) |
Y436F |
probably damaging |
Het |
| Ttc28 |
C |
A |
5: 111,433,245 (GRCm39) |
A2093E |
possibly damaging |
Het |
| Vav3 |
A |
G |
3: 109,434,854 (GRCm39) |
N462D |
possibly damaging |
Het |
| Whrn |
G |
T |
4: 63,413,421 (GRCm39) |
S17* |
probably null |
Het |
| Zfhx4 |
T |
A |
3: 5,464,175 (GRCm39) |
S1469R |
possibly damaging |
Het |
| Zfp108 |
T |
A |
7: 23,960,257 (GRCm39) |
C283S |
probably damaging |
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 |
|
|
R3918: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'- TGAGCCTGAACGTGGAATCC -3'
(R):5'- CCTTGATGTGGGGACTATTCC -3'
Sequencing Primer
(F):5'- GTGGAATCCCAAAACCCTGG -3'
(R):5'- GGGGACTATTCCTGCTATCCAG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation