Incidental Mutation 'IGL01453:Tmprss11f'
| ID |
84684 |
| 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 # |
IGL01453
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
86669757-86780283 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 86692691 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Stop codon
at position 78
(G78*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112252
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000116553]
|
| AlphaFold |
Q8BHM9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000116553
AA Change: G78*
|
| SMART Domains |
Protein: ENSMUSP00000112252
Gene: ENSMUSG00000048764
AA Change: G78*
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,353,834 (GRCm39) |
T3719A |
probably damaging |
Het |
| Abcb5 |
A |
G |
12: 118,831,705 (GRCm39) |
S1216P |
probably damaging |
Het |
| Abl1 |
A |
G |
2: 31,668,989 (GRCm39) |
T104A |
probably damaging |
Het |
| Adgrg6 |
A |
T |
10: 14,296,202 (GRCm39) |
M1066K |
possibly damaging |
Het |
| Armc1 |
T |
C |
3: 19,198,594 (GRCm39) |
N122S |
probably benign |
Het |
| Fat1 |
C |
T |
8: 45,504,307 (GRCm39) |
T4600M |
probably damaging |
Het |
| Hrh1 |
T |
A |
6: 114,458,123 (GRCm39) |
I468N |
probably damaging |
Het |
| Krt34 |
A |
T |
11: 99,930,916 (GRCm39) |
L162Q |
probably damaging |
Het |
| Macrod2 |
A |
T |
2: 140,294,492 (GRCm39) |
|
probably benign |
Het |
| Mfsd9 |
C |
A |
1: 40,829,638 (GRCm39) |
|
probably benign |
Het |
| Nap1l1 |
C |
T |
10: 111,328,839 (GRCm39) |
T256I |
probably benign |
Het |
| Or12e1 |
A |
G |
2: 87,022,192 (GRCm39) |
I54V |
probably benign |
Het |
| Or5h22 |
T |
C |
16: 58,895,132 (GRCm39) |
I104V |
probably benign |
Het |
| Or6k4 |
A |
G |
1: 173,964,679 (GRCm39) |
Y123C |
possibly damaging |
Het |
| Pard6a |
T |
A |
8: 106,429,309 (GRCm39) |
|
probably null |
Het |
| Pmm2 |
G |
A |
16: 8,466,532 (GRCm39) |
R119Q |
probably damaging |
Het |
| Por |
C |
T |
5: 135,763,040 (GRCm39) |
Q517* |
probably null |
Het |
| Ppil6 |
T |
C |
10: 41,374,473 (GRCm39) |
I118T |
probably benign |
Het |
| Psg26 |
A |
G |
7: 18,213,999 (GRCm39) |
V221A |
possibly damaging |
Het |
| Ptpru |
C |
A |
4: 131,496,803 (GRCm39) |
|
probably benign |
Het |
| Rpl27a |
T |
A |
7: 109,118,832 (GRCm39) |
V15E |
probably benign |
Het |
| Setd1b |
T |
C |
5: 123,296,527 (GRCm39) |
|
probably benign |
Het |
| Slc17a1 |
A |
G |
13: 24,058,714 (GRCm39) |
N56S |
probably damaging |
Het |
| Sybu |
A |
T |
15: 44,536,201 (GRCm39) |
D508E |
probably damaging |
Het |
| Tada2b |
A |
C |
5: 36,633,686 (GRCm39) |
N222K |
probably damaging |
Het |
| Tbcb |
T |
C |
7: 29,930,627 (GRCm39) |
|
probably null |
Het |
| Vmn2r65 |
T |
C |
7: 84,589,708 (GRCm39) |
Y736C |
probably damaging |
Het |
| Zc3h7a |
G |
A |
16: 10,967,242 (GRCm39) |
P517S |
probably benign |
Het |
| Zfp280d |
A |
G |
9: 72,229,868 (GRCm39) |
T392A |
possibly damaging |
Het |
| Zfp318 |
T |
A |
17: 46,719,942 (GRCm39) |
|
probably null |
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 |
|
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 |
2013-11-11 |
Incidental Mutation