Incidental Mutation 'R7708:Tmprss11f'
ID |
594393 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmprss11f
|
Ensembl Gene |
ENSMUSG00000048764 |
Gene Name |
transmembrane protease, serine 11f |
Synonyms |
4732406D01Rik |
MMRRC Submission |
045709-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.069)
|
Stock # |
R7708 (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 86672028 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Aspartic acid
at position 388
(G388D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112252
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000116553]
|
AlphaFold |
Q8BHM9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000116553
AA Change: G388D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000112252 Gene: ENSMUSG00000048764 AA Change: G388D
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: 99.1%
|
Validation Efficiency |
100% (46/46) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2fm3 |
A |
G |
3: 59,772,756 (GRCm39) |
S87G |
probably benign |
Het |
Adam24 |
A |
G |
8: 41,133,558 (GRCm39) |
H342R |
probably damaging |
Het |
Arhgef1 |
G |
A |
7: 24,616,306 (GRCm39) |
D317N |
probably damaging |
Het |
Asap1 |
T |
C |
15: 64,024,721 (GRCm39) |
Y315C |
probably damaging |
Het |
Atp10b |
C |
A |
11: 43,092,970 (GRCm39) |
T435K |
probably damaging |
Het |
AW551984 |
A |
T |
9: 39,505,051 (GRCm39) |
F480L |
probably benign |
Het |
Bspry |
G |
T |
4: 62,414,337 (GRCm39) |
C310F |
probably benign |
Het |
Camk2d |
A |
T |
3: 126,391,089 (GRCm39) |
M1L |
probably benign |
Het |
Clock |
T |
A |
5: 76,414,256 (GRCm39) |
S19C |
probably benign |
Het |
Cxxc1 |
G |
T |
18: 74,349,314 (GRCm39) |
|
probably benign |
Het |
Efcab3 |
G |
C |
11: 104,855,397 (GRCm39) |
D3816H |
unknown |
Het |
Ercc6l2 |
T |
A |
13: 63,989,328 (GRCm39) |
C176* |
probably null |
Het |
Fkbp5 |
A |
G |
17: 28,657,071 (GRCm39) |
F49L |
probably benign |
Het |
Gm15130 |
T |
A |
2: 110,974,962 (GRCm39) |
D67V |
|
Het |
Gpatch2 |
A |
G |
1: 186,964,963 (GRCm39) |
I297V |
probably benign |
Het |
Gpr135 |
T |
G |
12: 72,116,733 (GRCm39) |
I345L |
probably benign |
Het |
Gpr89 |
G |
A |
3: 96,787,941 (GRCm39) |
T271I |
possibly damaging |
Het |
Hip1r |
T |
A |
5: 124,135,532 (GRCm39) |
S503T |
possibly damaging |
Het |
Hivep1 |
T |
A |
13: 42,317,753 (GRCm39) |
C2076* |
probably null |
Het |
Hoxa2 |
A |
G |
6: 52,141,542 (GRCm39) |
V28A |
probably damaging |
Het |
Inf2 |
T |
C |
12: 112,573,991 (GRCm39) |
V765A |
unknown |
Het |
Krt87 |
T |
C |
15: 101,385,813 (GRCm39) |
M261V |
probably benign |
Het |
Mtmr7 |
A |
G |
8: 41,043,554 (GRCm39) |
Y166H |
probably damaging |
Het |
Nuak2 |
T |
C |
1: 132,252,770 (GRCm39) |
M108T |
possibly damaging |
Het |
Or4f52 |
T |
C |
2: 111,061,863 (GRCm39) |
I92V |
probably damaging |
Het |
Or52e19 |
T |
C |
7: 102,959,768 (GRCm39) |
L280P |
probably damaging |
Het |
Or5p80 |
C |
T |
7: 108,230,048 (GRCm39) |
P283L |
probably damaging |
Het |
Or6k6 |
A |
G |
1: 173,945,300 (GRCm39) |
M94T |
probably damaging |
Het |
Or8b1c |
A |
T |
9: 38,384,681 (GRCm39) |
T213S |
probably damaging |
Het |
Or8s16 |
A |
T |
15: 98,211,029 (GRCm39) |
M134K |
probably damaging |
Het |
Orm3 |
A |
T |
4: 63,276,050 (GRCm39) |
E154V |
probably damaging |
Het |
Pcdhga2 |
T |
A |
18: 37,804,496 (GRCm39) |
I780N |
possibly damaging |
Het |
Phf21a |
T |
C |
2: 92,157,511 (GRCm39) |
|
probably null |
Het |
Polh |
G |
T |
17: 46,483,626 (GRCm39) |
D546E |
probably benign |
Het |
Ptprr |
A |
G |
10: 115,998,502 (GRCm39) |
D204G |
probably benign |
Het |
Pxdn |
C |
T |
12: 30,056,601 (GRCm39) |
L1271F |
probably damaging |
Het |
Rpl7l1 |
A |
G |
17: 47,090,271 (GRCm39) |
V121A |
possibly damaging |
Het |
Rreb1 |
A |
G |
13: 38,113,546 (GRCm39) |
T302A |
probably benign |
Het |
Scn3a |
C |
T |
2: 65,313,512 (GRCm39) |
V1134I |
possibly damaging |
Het |
Slc10a6 |
C |
T |
5: 103,777,128 (GRCm39) |
|
probably benign |
Het |
Tnf |
A |
C |
17: 35,419,134 (GRCm39) |
V232G |
possibly damaging |
Het |
Trappc13 |
C |
T |
13: 104,283,845 (GRCm39) |
G302D |
probably benign |
Het |
Trbj1-7 |
T |
G |
6: 41,512,617 (GRCm39) |
Y14* |
probably null |
Het |
Vmn1r217 |
T |
C |
13: 23,298,269 (GRCm39) |
H211R |
probably benign |
Het |
Vmn2r69 |
T |
A |
7: 85,061,755 (GRCm39) |
H73L |
possibly damaging |
Het |
Zfp827 |
T |
C |
8: 79,902,591 (GRCm39) |
L835S |
probably damaging |
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 |
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 |
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'- GCTGTGACTGTAGCTCACAAC -3'
(R):5'- GAAAACGTACTTTGAGGTTCAACTC -3'
Sequencing Primer
(F):5'- GTGACTGTAGCTCACAACTCTCTAAG -3'
(R):5'- AGGTTCAACTCAATAGAAAGACATAC -3'
|
Posted On |
2019-11-12 |