Incidental Mutation 'IGL03135:Tmprss11c'
ID |
410478 |
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 # |
IGL03135
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
86379340-86437167 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 86385509 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 308
(V308A)
|
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: V321A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000062915 Gene: ENSMUSG00000061184 AA Change: V321A
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 |
noncoding transcript
Transcript: ENSMUST00000180191
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000196462
AA Change: V308A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000142902 Gene: ENSMUSG00000061184 AA Change: V308A
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apmap |
A |
C |
2: 150,429,035 (GRCm39) |
M196R |
possibly damaging |
Het |
Arhgap27 |
T |
A |
11: 103,229,891 (GRCm39) |
|
probably null |
Het |
Arl8b |
A |
C |
6: 108,795,506 (GRCm39) |
N148T |
probably benign |
Het |
Baz1a |
A |
G |
12: 54,976,375 (GRCm39) |
F434L |
probably damaging |
Het |
Birc2 |
A |
G |
9: 7,849,722 (GRCm39) |
|
probably benign |
Het |
Brwd1 |
C |
A |
16: 95,822,458 (GRCm39) |
R1249I |
probably damaging |
Het |
Cab39l |
T |
C |
14: 59,757,100 (GRCm39) |
F161L |
probably benign |
Het |
Ccr8 |
A |
T |
9: 119,923,689 (GRCm39) |
D268V |
possibly damaging |
Het |
Col25a1 |
A |
T |
3: 130,323,332 (GRCm39) |
|
probably benign |
Het |
Cpn1 |
A |
G |
19: 43,974,693 (GRCm39) |
L12P |
possibly damaging |
Het |
Dnah6 |
A |
G |
6: 73,121,987 (GRCm39) |
I1360T |
probably benign |
Het |
Dnajb8 |
A |
G |
6: 88,200,013 (GRCm39) |
E183G |
probably damaging |
Het |
Dpp8 |
T |
A |
9: 64,960,322 (GRCm39) |
|
probably null |
Het |
Fsd1 |
C |
A |
17: 56,297,416 (GRCm39) |
|
probably null |
Het |
Grina |
T |
A |
15: 76,132,162 (GRCm39) |
F28I |
possibly damaging |
Het |
H2-M3 |
G |
A |
17: 37,583,324 (GRCm39) |
D262N |
possibly damaging |
Het |
Hdgfl3 |
G |
A |
7: 81,543,587 (GRCm39) |
T188M |
probably damaging |
Het |
Kif18b |
A |
G |
11: 102,805,086 (GRCm39) |
I353T |
probably damaging |
Het |
Lrrc41 |
C |
A |
4: 115,945,728 (GRCm39) |
R148S |
probably benign |
Het |
Lrrc8e |
T |
A |
8: 4,285,776 (GRCm39) |
L667Q |
probably damaging |
Het |
Lrrk1 |
A |
G |
7: 65,912,638 (GRCm39) |
F1641L |
probably benign |
Het |
Naaladl1 |
A |
T |
19: 6,162,386 (GRCm39) |
T443S |
probably benign |
Het |
Naga |
C |
A |
15: 82,214,942 (GRCm39) |
V339F |
probably damaging |
Het |
Nedd4l |
A |
G |
18: 65,338,741 (GRCm39) |
K702E |
probably damaging |
Het |
Nwd2 |
T |
A |
5: 63,963,338 (GRCm39) |
L974H |
probably damaging |
Het |
Parp14 |
A |
G |
16: 35,678,381 (GRCm39) |
M529T |
probably damaging |
Het |
Parp8 |
A |
G |
13: 117,047,478 (GRCm39) |
V198A |
probably benign |
Het |
Pcdhb19 |
A |
T |
18: 37,631,588 (GRCm39) |
H461L |
probably benign |
Het |
Ppp6r1 |
T |
C |
7: 4,645,159 (GRCm39) |
D236G |
possibly damaging |
Het |
Psg21 |
T |
C |
7: 18,388,843 (GRCm39) |
D83G |
probably benign |
Het |
Ptpru |
A |
G |
4: 131,546,111 (GRCm39) |
C308R |
probably damaging |
Het |
Ralgds |
T |
A |
2: 28,439,100 (GRCm39) |
S696T |
probably damaging |
Het |
Rttn |
T |
A |
18: 89,033,274 (GRCm39) |
L695Q |
probably damaging |
Het |
Scel |
A |
T |
14: 103,823,950 (GRCm39) |
I393F |
probably benign |
Het |
Serpina3j |
T |
A |
12: 104,281,166 (GRCm39) |
I113N |
probably damaging |
Het |
Slc4a3 |
C |
A |
1: 75,524,579 (GRCm39) |
|
probably benign |
Het |
Slc6a11 |
A |
T |
6: 114,171,570 (GRCm39) |
|
probably null |
Het |
Slc8a3 |
C |
T |
12: 81,249,023 (GRCm39) |
V802M |
probably damaging |
Het |
Smarcal1 |
T |
A |
1: 72,655,660 (GRCm39) |
|
probably null |
Het |
Trim10 |
A |
G |
17: 37,185,113 (GRCm39) |
R279G |
possibly damaging |
Het |
Trim30a |
A |
G |
7: 104,060,348 (GRCm39) |
V476A |
probably damaging |
Het |
Trio |
T |
C |
15: 27,832,097 (GRCm39) |
|
probably benign |
Het |
Urgcp |
G |
A |
11: 5,666,091 (GRCm39) |
T749I |
possibly damaging |
Het |
Vmn2r60 |
A |
G |
7: 41,786,018 (GRCm39) |
I274V |
probably benign |
Het |
Vps11 |
A |
G |
9: 44,267,653 (GRCm39) |
F40L |
probably benign |
Het |
Ywhab |
A |
G |
2: 163,857,195 (GRCm39) |
I157V |
probably benign |
Het |
Zfp638 |
G |
A |
6: 83,919,857 (GRCm39) |
R485H |
probably damaging |
Het |
Zfp944 |
A |
G |
17: 22,558,737 (GRCm39) |
I170T |
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 |
IGL03255:Tmprss11c
|
APN |
5 |
86,419,341 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |