Incidental Mutation 'R6447:Tmprss11f'
ID |
519225 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmprss11f
|
Ensembl Gene |
ENSMUSG00000048764 |
Gene Name |
transmembrane protease, serine 11f |
Synonyms |
4732406D01Rik |
MMRRC Submission |
044389-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.069)
|
Stock # |
R6447 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
86669757-86780283 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 86676086 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 365
(Y365C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112252
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000116553]
|
AlphaFold |
Q8BHM9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000116553
AA Change: Y365C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000112252 Gene: ENSMUSG00000048764 AA Change: Y365C
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: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2fm3 |
A |
G |
3: 59,772,819 (GRCm39) |
I108V |
probably damaging |
Het |
Axl |
C |
A |
7: 25,469,708 (GRCm39) |
R476I |
probably damaging |
Het |
Casr |
A |
G |
16: 36,315,907 (GRCm39) |
L721P |
probably damaging |
Het |
Cntn6 |
A |
T |
6: 104,836,409 (GRCm39) |
H925L |
probably damaging |
Het |
Csmd1 |
T |
C |
8: 15,960,527 (GRCm39) |
Y3296C |
probably damaging |
Het |
Dnah3 |
G |
A |
7: 119,522,277 (GRCm39) |
T3972M |
probably benign |
Het |
Ect2 |
A |
G |
3: 27,169,633 (GRCm39) |
F740S |
probably damaging |
Het |
Eif1ad10 |
T |
C |
12: 88,216,494 (GRCm39) |
D126G |
unknown |
Het |
Exoc1 |
T |
A |
5: 76,691,364 (GRCm39) |
D222E |
probably damaging |
Het |
Hdac2 |
T |
C |
10: 36,869,812 (GRCm39) |
V258A |
possibly damaging |
Het |
Lrrk1 |
A |
G |
7: 65,952,476 (GRCm39) |
S487P |
probably benign |
Het |
Lyplal1 |
A |
T |
1: 185,821,639 (GRCm39) |
|
probably null |
Het |
Nwd2 |
T |
A |
5: 63,964,898 (GRCm39) |
I1494N |
probably benign |
Het |
Pcdhb22 |
A |
G |
18: 37,653,269 (GRCm39) |
E579G |
possibly damaging |
Het |
Samd8 |
T |
C |
14: 21,842,624 (GRCm39) |
|
probably null |
Het |
Sccpdh |
A |
G |
1: 179,506,453 (GRCm39) |
*131W |
probably null |
Het |
Smarcal1 |
C |
T |
1: 72,625,033 (GRCm39) |
S60L |
probably damaging |
Het |
Stau2 |
A |
T |
1: 16,460,049 (GRCm39) |
V264E |
possibly damaging |
Het |
T |
T |
C |
17: 8,660,463 (GRCm39) |
I217T |
possibly damaging |
Het |
Tbc1d1 |
C |
T |
5: 64,490,836 (GRCm39) |
L896F |
probably damaging |
Het |
Thap1 |
CAGCATCTGCTCGGAGCA |
CAGCA |
8: 26,650,884 (GRCm39) |
|
probably null |
Het |
Trdv4 |
A |
G |
14: 54,312,931 (GRCm39) |
T102A |
probably damaging |
Het |
Vmn1r205 |
G |
T |
13: 22,776,912 (GRCm39) |
N63K |
probably damaging |
Het |
Vps13b |
T |
C |
15: 35,572,272 (GRCm39) |
V963A |
probably benign |
Het |
Zswim2 |
T |
C |
2: 83,745,457 (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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTGAGTTAATGCACACCAAACACTC -3'
(R):5'- TGATCGGTCTTTCTGAGCATCC -3'
Sequencing Primer
(F):5'- TCAATACAATTGCCCCATGAGC -3'
(R):5'- GGTCTTTCTGAGCATCCAGTGAAAAC -3'
|
Posted On |
2018-05-24 |