Incidental Mutation 'IGL00777:Tmprss11f'
ID |
14515 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tmprss11f
|
Ensembl Gene |
ENSMUSG00000048764 |
Gene Name |
transmembrane protease, serine 11f |
Synonyms |
4732406D01Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.069)
|
Stock # |
IGL00777
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
86669757-86780283 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 86671924 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 423
(Y423H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112252
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000116553]
|
AlphaFold |
Q8BHM9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000116553
AA Change: Y423H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000112252 Gene: ENSMUSG00000048764 AA Change: Y423H
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 |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgra3 |
A |
G |
5: 50,183,100 (GRCm39) |
I82T |
probably damaging |
Het |
Cd72 |
T |
C |
4: 43,448,365 (GRCm39) |
Y305C |
possibly damaging |
Het |
Cldn34c1 |
T |
C |
X: 122,052,570 (GRCm39) |
L103P |
probably damaging |
Het |
Dhtkd1 |
A |
T |
2: 5,934,468 (GRCm39) |
L234H |
probably damaging |
Het |
H1f4 |
T |
A |
13: 23,806,005 (GRCm39) |
|
probably benign |
Het |
Hgd |
A |
G |
16: 37,433,611 (GRCm39) |
T77A |
probably damaging |
Het |
Itgad |
A |
T |
7: 127,803,022 (GRCm39) |
T1059S |
probably damaging |
Het |
Klhl20 |
T |
C |
1: 160,937,325 (GRCm39) |
T17A |
probably benign |
Het |
Lct |
T |
C |
1: 128,215,293 (GRCm39) |
D1761G |
probably benign |
Het |
Mmp23 |
T |
G |
4: 155,735,464 (GRCm39) |
Y334S |
possibly damaging |
Het |
Ncapg |
A |
G |
5: 45,853,107 (GRCm39) |
S858G |
possibly damaging |
Het |
Nsd1 |
G |
A |
13: 55,386,548 (GRCm39) |
G101E |
probably damaging |
Het |
Pdia3 |
T |
A |
2: 121,260,037 (GRCm39) |
L192Q |
probably damaging |
Het |
Phex |
A |
G |
X: 155,960,528 (GRCm39) |
L672P |
probably damaging |
Het |
Reln |
A |
G |
5: 22,223,848 (GRCm39) |
|
probably null |
Het |
Rfk |
T |
A |
19: 17,372,700 (GRCm39) |
V74E |
probably benign |
Het |
Rubcn |
A |
G |
16: 32,656,933 (GRCm39) |
C467R |
probably damaging |
Het |
Rufy2 |
G |
A |
10: 62,826,833 (GRCm39) |
C124Y |
probably damaging |
Het |
Slc8a1 |
A |
G |
17: 81,956,009 (GRCm39) |
I343T |
probably damaging |
Het |
Smyd4 |
T |
A |
11: 75,281,634 (GRCm39) |
M369K |
probably benign |
Het |
Spata31e2 |
C |
A |
1: 26,721,173 (GRCm39) |
D1336Y |
probably damaging |
Het |
Tmem131l |
G |
T |
3: 83,806,597 (GRCm39) |
P1408T |
probably damaging |
Het |
Wdr70 |
A |
T |
15: 8,049,088 (GRCm39) |
M303K |
probably benign |
Het |
|
Other mutations in Tmprss11f |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
R6817:Tmprss11f
|
UTSW |
5 |
86,704,793 (GRCm39) |
missense |
probably benign |
|
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 |
|
Posted On |
2012-12-06 |