Incidental Mutation 'IGL02406:Tmprss11f'
| ID |
292087 |
| 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 # |
IGL02406
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
86669757-86780283 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 86681525 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 243
(W243R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112252
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000116553]
|
| AlphaFold |
Q8BHM9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000116553
AA Change: W243R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112252
Gene: ENSMUSG00000048764
AA Change: W243R
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
G |
T |
7: 120,139,825 (GRCm39) |
A1496S |
probably damaging |
Het |
| Abra |
A |
T |
15: 41,732,583 (GRCm39) |
V161E |
probably damaging |
Het |
| Adcy4 |
G |
A |
14: 56,007,504 (GRCm39) |
T942I |
possibly damaging |
Het |
| Atrip |
A |
G |
9: 108,894,487 (GRCm39) |
V480A |
probably damaging |
Het |
| Azin1 |
A |
T |
15: 38,491,809 (GRCm39) |
D382E |
probably benign |
Het |
| BC034090 |
G |
T |
1: 155,100,899 (GRCm39) |
A455E |
probably benign |
Het |
| Clstn1 |
A |
G |
4: 149,711,816 (GRCm39) |
Y121C |
probably damaging |
Het |
| Cpq |
T |
A |
15: 33,302,654 (GRCm39) |
N268K |
probably damaging |
Het |
| Cpsf7 |
A |
G |
19: 10,509,352 (GRCm39) |
S88G |
probably damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Cyp2j11 |
G |
A |
4: 96,236,776 (GRCm39) |
A10V |
possibly damaging |
Het |
| Dock4 |
T |
C |
12: 40,827,206 (GRCm39) |
V983A |
probably benign |
Het |
| Dspp |
G |
T |
5: 104,325,232 (GRCm39) |
E532* |
probably null |
Het |
| Ercc4 |
G |
T |
16: 12,941,400 (GRCm39) |
D243Y |
probably damaging |
Het |
| Fars2 |
C |
A |
13: 36,594,145 (GRCm39) |
D383E |
probably benign |
Het |
| Fip1l1 |
A |
G |
5: 74,725,205 (GRCm39) |
T280A |
probably benign |
Het |
| Gcgr |
T |
G |
11: 120,428,010 (GRCm39) |
N292K |
probably damaging |
Het |
| Gtpbp4 |
T |
A |
13: 9,041,786 (GRCm39) |
K85M |
possibly damaging |
Het |
| Jhy |
A |
G |
9: 40,822,285 (GRCm39) |
Y618H |
probably damaging |
Het |
| Mbd4 |
A |
T |
6: 115,825,986 (GRCm39) |
I314N |
possibly damaging |
Het |
| Mbtd1 |
C |
T |
11: 93,799,684 (GRCm39) |
T70M |
probably damaging |
Het |
| Mki67 |
T |
C |
7: 135,300,522 (GRCm39) |
H1504R |
probably benign |
Het |
| Mks1 |
T |
C |
11: 87,753,611 (GRCm39) |
V515A |
probably benign |
Het |
| Msantd2 |
G |
T |
9: 37,434,755 (GRCm39) |
V332L |
probably damaging |
Het |
| Myrip |
A |
T |
9: 120,296,598 (GRCm39) |
T836S |
probably benign |
Het |
| Nbea |
T |
C |
3: 55,993,687 (GRCm39) |
I238V |
probably benign |
Het |
| Plekhh1 |
T |
C |
12: 79,115,783 (GRCm39) |
|
probably benign |
Het |
| Prkdc |
A |
G |
16: 15,488,399 (GRCm39) |
N507S |
probably benign |
Het |
| Prss12 |
G |
A |
3: 123,299,123 (GRCm39) |
V632I |
possibly damaging |
Het |
| Puf60 |
A |
G |
15: 75,946,458 (GRCm39) |
S121P |
probably damaging |
Het |
| Raet1e |
G |
A |
10: 22,056,535 (GRCm39) |
C37Y |
probably damaging |
Het |
| Ralgps2 |
G |
T |
1: 156,655,838 (GRCm39) |
A362E |
possibly damaging |
Het |
| Scn1a |
A |
G |
2: 66,156,380 (GRCm39) |
S510P |
possibly damaging |
Het |
| Skap2 |
A |
C |
6: 51,851,453 (GRCm39) |
|
probably null |
Het |
| Slc4a10 |
G |
A |
2: 62,021,113 (GRCm39) |
V54M |
probably benign |
Het |
| Spata17 |
A |
G |
1: 186,849,458 (GRCm39) |
|
probably null |
Het |
| Stoml3 |
T |
A |
3: 53,410,671 (GRCm39) |
N128K |
probably damaging |
Het |
| Tatdn2 |
T |
A |
6: 113,681,174 (GRCm39) |
S402R |
probably benign |
Het |
| Vmn2r32 |
A |
G |
7: 7,479,709 (GRCm39) |
Y155H |
probably benign |
Het |
| Vmn2r86 |
T |
A |
10: 130,284,508 (GRCm39) |
T528S |
possibly damaging |
Het |
| Zfhx3 |
C |
T |
8: 109,682,374 (GRCm39) |
A3271V |
unknown |
Het |
| Zkscan3 |
T |
C |
13: 21,572,348 (GRCm39) |
N428S |
possibly damaging |
Het |
| Zxdc |
A |
G |
6: 90,375,818 (GRCm39) |
S765G |
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 |
|
|
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 |
2015-04-16 |
Incidental Mutation