Incidental Mutation 'R6817:Tmprss11f'
| ID |
537374 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmprss11f
|
| Ensembl Gene |
ENSMUSG00000048764 |
| Gene Name |
transmembrane protease, serine 11f |
| Synonyms |
4732406D01Rik |
| MMRRC Submission |
044929-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R6817 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
86669757-86780283 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 86704793 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 42
(V42I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112252
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000116553]
|
| AlphaFold |
Q8BHM9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000116553
AA Change: V42I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000112252
Gene: ENSMUSG00000048764
AA Change: V42I
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
31 |
53 |
N/A |
INTRINSIC |
|
SEA
|
56 |
168 |
4.62e-2 |
SMART |
|
low complexity region
|
192 |
203 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
206 |
433 |
8.7e-84 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
96% (47/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apeh |
G |
A |
9: 107,969,878 (GRCm39) |
H186Y |
probably damaging |
Het |
| Arhgap21 |
A |
C |
2: 20,885,107 (GRCm39) |
L690R |
probably benign |
Het |
| Asxl3 |
A |
G |
18: 22,656,637 (GRCm39) |
N1549S |
probably benign |
Het |
| Cast |
T |
C |
13: 74,847,277 (GRCm39) |
T670A |
possibly damaging |
Het |
| Cd109 |
A |
G |
9: 78,622,237 (GRCm39) |
D1409G |
probably benign |
Het |
| Cemip |
A |
G |
7: 83,637,200 (GRCm39) |
F311S |
probably damaging |
Het |
| Cfap43 |
T |
A |
19: 47,744,524 (GRCm39) |
I1210F |
possibly damaging |
Het |
| Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Het |
| Cops5 |
G |
A |
1: 10,100,829 (GRCm39) |
L256F |
probably benign |
Het |
| Cux1 |
T |
C |
5: 136,402,027 (GRCm39) |
|
probably null |
Het |
| Dab1 |
A |
G |
4: 104,536,743 (GRCm39) |
K178E |
probably damaging |
Het |
| Ddc |
A |
G |
11: 11,774,854 (GRCm39) |
Y346H |
probably damaging |
Het |
| Dlg2 |
T |
G |
7: 91,614,872 (GRCm39) |
D225E |
probably benign |
Het |
| Dsg1b |
A |
T |
18: 20,527,462 (GRCm39) |
I198F |
probably damaging |
Het |
| Ect2l |
T |
C |
10: 18,049,807 (GRCm39) |
H155R |
probably benign |
Het |
| Epha2 |
A |
G |
4: 141,036,305 (GRCm39) |
H247R |
probably damaging |
Het |
| Esrp1 |
A |
G |
4: 11,357,552 (GRCm39) |
V355A |
probably damaging |
Het |
| Fam78b |
A |
G |
1: 166,906,419 (GRCm39) |
M193V |
possibly damaging |
Het |
| Gdpd4 |
A |
G |
7: 97,607,037 (GRCm39) |
T4A |
probably benign |
Het |
| Gm17175 |
T |
C |
14: 51,810,478 (GRCm39) |
N50D |
possibly damaging |
Het |
| Kcnt2 |
A |
G |
1: 140,173,931 (GRCm39) |
|
probably benign |
Het |
| Lpo |
T |
C |
11: 87,700,067 (GRCm39) |
N525D |
probably benign |
Het |
| Lrrc41 |
G |
A |
4: 115,946,502 (GRCm39) |
E406K |
possibly damaging |
Het |
| Lrrc59 |
G |
C |
11: 94,520,891 (GRCm39) |
D21H |
probably damaging |
Het |
| Mgat4a |
G |
A |
1: 37,488,204 (GRCm39) |
R472* |
probably null |
Het |
| Mroh7 |
C |
T |
4: 106,571,312 (GRCm39) |
A14T |
probably benign |
Het |
| Muc5b |
T |
C |
7: 141,416,650 (GRCm39) |
S3199P |
probably benign |
Het |
| Muc6 |
T |
A |
7: 141,237,326 (GRCm39) |
Y270F |
probably damaging |
Het |
| Myo18b |
T |
A |
5: 112,978,104 (GRCm39) |
T1273S |
probably benign |
Het |
| Nos2 |
A |
T |
11: 78,836,092 (GRCm39) |
E385V |
possibly damaging |
Het |
| Nsl1 |
T |
G |
1: 190,795,471 (GRCm39) |
|
probably null |
Het |
| Nup93 |
T |
C |
8: 95,041,310 (GRCm39) |
|
probably null |
Het |
| Or5d45 |
A |
T |
2: 88,153,107 (GRCm39) |
M314K |
probably benign |
Het |
| Pcna-ps2 |
T |
G |
19: 9,260,861 (GRCm39) |
M40R |
probably damaging |
Het |
| Pik3r5 |
A |
G |
11: 68,377,407 (GRCm39) |
E148G |
probably damaging |
Het |
| Pirt |
A |
G |
11: 66,816,737 (GRCm39) |
E16G |
probably damaging |
Het |
| Pkp4 |
T |
C |
2: 59,148,944 (GRCm39) |
Y566H |
probably damaging |
Het |
| Psg17 |
A |
C |
7: 18,548,565 (GRCm39) |
V402G |
probably damaging |
Het |
| Ptprb |
GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT |
GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT |
10: 116,119,582 (GRCm39) |
|
probably benign |
Het |
| Rassf7 |
A |
G |
7: 140,797,360 (GRCm39) |
E191G |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,353,111 (GRCm39) |
|
probably null |
Het |
| Slc34a2 |
C |
T |
5: 53,221,370 (GRCm39) |
T272I |
probably damaging |
Het |
| Sos2 |
T |
C |
12: 69,664,935 (GRCm39) |
E332G |
probably benign |
Het |
| Spdye4c |
T |
C |
2: 128,438,430 (GRCm39) |
Y263H |
probably damaging |
Het |
| Trpv5 |
T |
A |
6: 41,634,941 (GRCm39) |
N463Y |
possibly damaging |
Het |
| Ush2a |
A |
T |
1: 188,595,061 (GRCm39) |
Q3831L |
probably benign |
Het |
| Wdr41 |
C |
A |
13: 95,133,812 (GRCm39) |
|
probably null |
Het |
| Zfand1 |
A |
G |
3: 10,405,884 (GRCm39) |
C246R |
probably benign |
Het |
|
| Other mutations in Tmprss11f |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00777:Tmprss11f
|
APN |
5 |
86,671,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01453:Tmprss11f
|
APN |
5 |
86,692,691 (GRCm39) |
nonsense |
probably null |
|
|
IGL02406:Tmprss11f
|
APN |
5 |
86,681,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03294:Tmprss11f
|
APN |
5 |
86,685,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0122:Tmprss11f
|
UTSW |
5 |
86,681,484 (GRCm39) |
splice site |
probably benign |
|
|
R0322:Tmprss11f
|
UTSW |
5 |
86,739,275 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0418:Tmprss11f
|
UTSW |
5 |
86,704,870 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1936:Tmprss11f
|
UTSW |
5 |
86,692,723 (GRCm39) |
missense |
probably benign |
0.23 |
|
R2002:Tmprss11f
|
UTSW |
5 |
86,687,627 (GRCm39) |
splice site |
probably benign |
|
|
R2008:Tmprss11f
|
UTSW |
5 |
86,739,265 (GRCm39) |
splice site |
probably null |
|
|
R2260:Tmprss11f
|
UTSW |
5 |
86,739,269 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4109:Tmprss11f
|
UTSW |
5 |
86,677,795 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4584:Tmprss11f
|
UTSW |
5 |
86,687,553 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4983:Tmprss11f
|
UTSW |
5 |
86,685,858 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5034:Tmprss11f
|
UTSW |
5 |
86,739,243 (GRCm39) |
intron |
probably benign |
|
|
R5116:Tmprss11f
|
UTSW |
5 |
86,687,555 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5254:Tmprss11f
|
UTSW |
5 |
86,685,892 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5324:Tmprss11f
|
UTSW |
5 |
86,704,837 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5410:Tmprss11f
|
UTSW |
5 |
86,677,965 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5441:Tmprss11f
|
UTSW |
5 |
86,676,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6143:Tmprss11f
|
UTSW |
5 |
86,687,558 (GRCm39) |
missense |
probably benign |
|
|
R6178:Tmprss11f
|
UTSW |
5 |
86,704,837 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6239:Tmprss11f
|
UTSW |
5 |
86,681,636 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6447:Tmprss11f
|
UTSW |
5 |
86,676,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7243:Tmprss11f
|
UTSW |
5 |
86,677,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7314:Tmprss11f
|
UTSW |
5 |
86,671,912 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R7623:Tmprss11f
|
UTSW |
5 |
86,672,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7708:Tmprss11f
|
UTSW |
5 |
86,672,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7776:Tmprss11f
|
UTSW |
5 |
86,681,605 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7955:Tmprss11f
|
UTSW |
5 |
86,692,682 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8046:Tmprss11f
|
UTSW |
5 |
86,676,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8147:Tmprss11f
|
UTSW |
5 |
86,677,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8209:Tmprss11f
|
UTSW |
5 |
86,687,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8219:Tmprss11f
|
UTSW |
5 |
86,677,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8343:Tmprss11f
|
UTSW |
5 |
86,681,666 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8873:Tmprss11f
|
UTSW |
5 |
86,692,733 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8889:Tmprss11f
|
UTSW |
5 |
86,687,618 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8892:Tmprss11f
|
UTSW |
5 |
86,687,618 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9465:Tmprss11f
|
UTSW |
5 |
86,685,876 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Z1176:Tmprss11f
|
UTSW |
5 |
86,676,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCTGTTCTGAGCACACTGTAC -3'
(R):5'- CGTTGAGAGTCAAGTAACCCAG -3'
Sequencing Primer
(F):5'- CTGAGCACACTGTACTTTTACAACG -3'
(R):5'- GAGTCAAGTAACCCAGTGTTCTTAGC -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation