Incidental Mutation 'IGL03255:Tmprss11c'
| ID |
414612 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tmprss11c
|
| Ensembl Gene |
ENSMUSG00000061184 |
| Gene Name |
transmembrane protease, serine 11c |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03255
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
86379340-86437167 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 86419341 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 73
(I73F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142902
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059424]
[ENSMUST00000196462]
|
| AlphaFold |
Q1JRP2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000059424
AA Change: I73F
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000062915
Gene: ENSMUSG00000061184
AA Change: I73F
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
34 |
56 |
N/A |
INTRINSIC |
|
SEA
|
58 |
183 |
5.19e-3 |
SMART |
|
Tryp_SPc
|
199 |
425 |
8.42e-91 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000196462
AA Change: I73F
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000142902
Gene: ENSMUSG00000061184
AA Change: I73F
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
34 |
56 |
N/A |
INTRINSIC |
|
SEA
|
58 |
176 |
3.6e-4 |
SMART |
|
Tryp_SPc
|
186 |
412 |
4.1e-93 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1600012P17Rik |
A |
G |
1: 158,796,921 (GRCm39) |
|
noncoding transcript |
Het |
| Alpk3 |
A |
G |
7: 80,742,310 (GRCm39) |
D709G |
probably benign |
Het |
| Capn3 |
G |
T |
2: 120,320,189 (GRCm39) |
R309L |
probably damaging |
Het |
| Card11 |
T |
C |
5: 140,884,086 (GRCm39) |
I398V |
possibly damaging |
Het |
| Cps1 |
T |
A |
1: 67,184,960 (GRCm39) |
Y162* |
probably null |
Het |
| Defa26 |
A |
T |
8: 22,108,257 (GRCm39) |
D20V |
probably damaging |
Het |
| Defa39 |
T |
C |
8: 22,193,534 (GRCm39) |
T29A |
possibly damaging |
Het |
| Dnah8 |
T |
G |
17: 30,960,355 (GRCm39) |
L2244R |
probably damaging |
Het |
| Fhad1 |
T |
A |
4: 141,700,191 (GRCm39) |
N353I |
possibly damaging |
Het |
| Flt1 |
T |
A |
5: 147,525,331 (GRCm39) |
|
probably benign |
Het |
| Glyr1 |
G |
A |
16: 4,866,621 (GRCm39) |
|
probably null |
Het |
| Gm10220 |
A |
G |
5: 26,321,899 (GRCm39) |
S258P |
possibly damaging |
Het |
| Lama3 |
A |
T |
18: 12,672,760 (GRCm39) |
D845V |
probably damaging |
Het |
| Myh2 |
T |
A |
11: 67,084,051 (GRCm39) |
L1558Q |
probably damaging |
Het |
| Nelfb |
G |
T |
2: 25,093,207 (GRCm39) |
H482N |
probably benign |
Het |
| Or5ae1 |
T |
C |
7: 84,565,725 (GRCm39) |
L246P |
possibly damaging |
Het |
| Or5p58 |
A |
G |
7: 107,694,024 (GRCm39) |
V251A |
probably damaging |
Het |
| Ppfia2 |
A |
G |
10: 106,732,368 (GRCm39) |
T972A |
possibly damaging |
Het |
| Slc5a4a |
G |
A |
10: 75,986,346 (GRCm39) |
V85M |
probably damaging |
Het |
| Slc6a12 |
T |
G |
6: 121,331,246 (GRCm39) |
C166G |
probably damaging |
Het |
| Tm7sf3 |
T |
C |
6: 146,507,618 (GRCm39) |
|
probably benign |
Het |
| Tmem94 |
G |
T |
11: 115,682,894 (GRCm39) |
|
probably benign |
Het |
| Tmod2 |
T |
C |
9: 75,484,540 (GRCm39) |
|
probably benign |
Het |
| Vmn1r10 |
A |
G |
6: 57,090,911 (GRCm39) |
M168V |
probably benign |
Het |
| Vmn2r77 |
T |
A |
7: 86,461,131 (GRCm39) |
M819K |
probably benign |
Het |
| Vmo1 |
C |
T |
11: 70,405,236 (GRCm39) |
|
probably null |
Het |
| Ywhab |
A |
G |
2: 163,855,936 (GRCm39) |
D104G |
probably benign |
Het |
|
| Other mutations in Tmprss11c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00155:Tmprss11c
|
APN |
5 |
86,387,254 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01357:Tmprss11c
|
APN |
5 |
86,379,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01809:Tmprss11c
|
APN |
5 |
86,385,521 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02972:Tmprss11c
|
APN |
5 |
86,385,692 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL03135:Tmprss11c
|
APN |
5 |
86,385,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03355:Tmprss11c
|
APN |
5 |
86,379,730 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0165:Tmprss11c
|
UTSW |
5 |
86,379,786 (GRCm39) |
splice site |
probably benign |
|
|
R0285:Tmprss11c
|
UTSW |
5 |
86,419,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0480:Tmprss11c
|
UTSW |
5 |
86,385,468 (GRCm39) |
splice site |
probably benign |
|
|
R0639:Tmprss11c
|
UTSW |
5 |
86,383,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1554:Tmprss11c
|
UTSW |
5 |
86,437,119 (GRCm39) |
start codon destroyed |
possibly damaging |
0.59 |
|
R1651:Tmprss11c
|
UTSW |
5 |
86,387,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2234:Tmprss11c
|
UTSW |
5 |
86,429,945 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2235:Tmprss11c
|
UTSW |
5 |
86,429,945 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2698:Tmprss11c
|
UTSW |
5 |
86,419,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4787:Tmprss11c
|
UTSW |
5 |
86,404,312 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4962:Tmprss11c
|
UTSW |
5 |
86,385,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5063:Tmprss11c
|
UTSW |
5 |
86,385,689 (GRCm39) |
missense |
probably benign |
0.28 |
|
R5217:Tmprss11c
|
UTSW |
5 |
86,404,249 (GRCm39) |
missense |
probably benign |
|
|
R5366:Tmprss11c
|
UTSW |
5 |
86,429,993 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6343:Tmprss11c
|
UTSW |
5 |
86,404,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6598:Tmprss11c
|
UTSW |
5 |
86,437,092 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6681:Tmprss11c
|
UTSW |
5 |
86,437,119 (GRCm39) |
start codon destroyed |
possibly damaging |
0.59 |
|
R7170:Tmprss11c
|
UTSW |
5 |
86,385,478 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7198:Tmprss11c
|
UTSW |
5 |
86,379,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7258:Tmprss11c
|
UTSW |
5 |
86,419,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7382:Tmprss11c
|
UTSW |
5 |
86,379,723 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7391:Tmprss11c
|
UTSW |
5 |
86,385,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7590:Tmprss11c
|
UTSW |
5 |
86,387,332 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7894:Tmprss11c
|
UTSW |
5 |
86,379,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8164:Tmprss11c
|
UTSW |
5 |
86,379,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8311:Tmprss11c
|
UTSW |
5 |
86,383,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8416:Tmprss11c
|
UTSW |
5 |
86,387,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8426:Tmprss11c
|
UTSW |
5 |
86,379,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8877:Tmprss11c
|
UTSW |
5 |
86,385,540 (GRCm39) |
nonsense |
probably null |
|
|
R9092:Tmprss11c
|
UTSW |
5 |
86,385,495 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9400:Tmprss11c
|
UTSW |
5 |
86,385,516 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9614:Tmprss11c
|
UTSW |
5 |
86,383,379 (GRCm39) |
missense |
probably benign |
0.12 |
|
| Posted On |
2016-08-02 |
Incidental Mutation