Incidental Mutation 'IGL00423:Tmprss11g'
ID |
6419 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tmprss11g
|
Ensembl Gene |
ENSMUSG00000079451 |
Gene Name |
transmembrane protease, serine 11g |
Synonyms |
Desc4, 9930032O22Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.061)
|
Stock # |
IGL00423
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
86633736-86666459 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 86640050 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 193
(E193G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115540
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000134179]
[ENSMUST00000140095]
|
AlphaFold |
Q8BZ10 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000134179
AA Change: E206G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000122709 Gene: ENSMUSG00000079451 AA Change: E206G
Domain | Start | End | E-Value | Type |
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
Pfam:SEA
|
48 |
150 |
1.5e-25 |
PFAM |
Tryp_SPc
|
185 |
411 |
1.39e-82 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000140095
AA Change: E193G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000115540 Gene: ENSMUSG00000079451 AA Change: E193G
Domain | Start | End | E-Value | Type |
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
Pfam:SEA
|
45 |
154 |
1.3e-19 |
PFAM |
Tryp_SPc
|
172 |
398 |
1.39e-82 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199703
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acan |
A |
G |
7: 78,747,572 (GRCm39) |
E781G |
probably benign |
Het |
Acp7 |
T |
C |
7: 28,314,122 (GRCm39) |
T358A |
possibly damaging |
Het |
Adamtsl2 |
C |
A |
2: 26,975,100 (GRCm39) |
T199K |
probably damaging |
Het |
Ap4e1 |
T |
A |
2: 126,870,209 (GRCm39) |
S179T |
probably damaging |
Het |
BC048671 |
A |
G |
6: 90,280,200 (GRCm39) |
T39A |
probably benign |
Het |
Cfap20dc |
G |
A |
14: 8,473,370 (GRCm38) |
P600S |
possibly damaging |
Het |
Cnr1 |
G |
A |
4: 33,944,116 (GRCm39) |
S168N |
probably damaging |
Het |
Cp |
T |
C |
3: 20,039,826 (GRCm39) |
V881A |
possibly damaging |
Het |
Cyp4x1 |
T |
C |
4: 114,979,145 (GRCm39) |
T151A |
probably benign |
Het |
Drd2 |
T |
C |
9: 49,307,058 (GRCm39) |
I48T |
probably damaging |
Het |
Gemin5 |
A |
T |
11: 58,054,643 (GRCm39) |
I253N |
probably damaging |
Het |
Herc3 |
T |
A |
6: 58,845,700 (GRCm39) |
I407K |
probably damaging |
Het |
Ighmbp2 |
G |
T |
19: 3,318,704 (GRCm39) |
H457Q |
probably benign |
Het |
Mboat1 |
A |
G |
13: 30,379,776 (GRCm39) |
|
probably benign |
Het |
Myh2 |
T |
C |
11: 67,088,171 (GRCm39) |
V1929A |
probably benign |
Het |
Nucb2 |
T |
A |
7: 116,121,066 (GRCm39) |
|
probably benign |
Het |
Pcsk5 |
T |
C |
19: 17,619,923 (GRCm39) |
N383S |
probably benign |
Het |
Pde1a |
A |
G |
2: 79,696,014 (GRCm39) |
L443P |
probably damaging |
Het |
Prph2 |
A |
T |
17: 47,230,704 (GRCm39) |
N199I |
probably damaging |
Het |
Rab27b |
A |
G |
18: 70,129,138 (GRCm39) |
|
probably null |
Het |
Ranbp3 |
G |
A |
17: 57,016,238 (GRCm39) |
D336N |
probably damaging |
Het |
Rangap1 |
T |
C |
15: 81,606,194 (GRCm39) |
D49G |
probably benign |
Het |
Rasa3 |
G |
A |
8: 13,645,410 (GRCm39) |
|
probably benign |
Het |
Serpina6 |
T |
A |
12: 103,618,162 (GRCm39) |
N217I |
probably damaging |
Het |
Sorbs2 |
A |
G |
8: 46,252,743 (GRCm39) |
|
probably null |
Het |
Spire1 |
A |
G |
18: 67,662,085 (GRCm39) |
V116A |
probably damaging |
Het |
Tdrd1 |
T |
C |
19: 56,839,896 (GRCm39) |
V652A |
possibly damaging |
Het |
Zfp451 |
A |
T |
1: 33,816,660 (GRCm39) |
V213D |
probably benign |
Het |
|
Other mutations in Tmprss11g |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01611:Tmprss11g
|
APN |
5 |
86,638,640 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02417:Tmprss11g
|
APN |
5 |
86,638,750 (GRCm39) |
missense |
probably benign |
0.25 |
IGL02677:Tmprss11g
|
APN |
5 |
86,640,149 (GRCm39) |
missense |
probably benign |
|
IGL02832:Tmprss11g
|
APN |
5 |
86,645,128 (GRCm39) |
missense |
probably benign |
0.23 |
IGL02887:Tmprss11g
|
APN |
5 |
86,645,188 (GRCm39) |
splice site |
probably benign |
|
R0377:Tmprss11g
|
UTSW |
5 |
86,638,610 (GRCm39) |
missense |
probably damaging |
0.98 |
R0847:Tmprss11g
|
UTSW |
5 |
86,638,585 (GRCm39) |
missense |
probably benign |
0.01 |
R1037:Tmprss11g
|
UTSW |
5 |
86,638,606 (GRCm39) |
missense |
probably damaging |
1.00 |
R1507:Tmprss11g
|
UTSW |
5 |
86,647,470 (GRCm39) |
missense |
probably benign |
0.09 |
R1617:Tmprss11g
|
UTSW |
5 |
86,647,422 (GRCm39) |
missense |
probably damaging |
0.99 |
R1955:Tmprss11g
|
UTSW |
5 |
86,646,391 (GRCm39) |
missense |
probably damaging |
0.99 |
R2094:Tmprss11g
|
UTSW |
5 |
86,647,415 (GRCm39) |
missense |
probably damaging |
1.00 |
R2906:Tmprss11g
|
UTSW |
5 |
86,640,661 (GRCm39) |
intron |
probably benign |
|
R4730:Tmprss11g
|
UTSW |
5 |
86,637,092 (GRCm39) |
missense |
probably damaging |
1.00 |
R4730:Tmprss11g
|
UTSW |
5 |
86,637,091 (GRCm39) |
nonsense |
probably null |
|
R4934:Tmprss11g
|
UTSW |
5 |
86,644,401 (GRCm39) |
missense |
probably benign |
|
R4982:Tmprss11g
|
UTSW |
5 |
86,640,674 (GRCm39) |
missense |
probably damaging |
1.00 |
R5086:Tmprss11g
|
UTSW |
5 |
86,644,377 (GRCm39) |
missense |
possibly damaging |
0.65 |
R5606:Tmprss11g
|
UTSW |
5 |
86,635,269 (GRCm39) |
missense |
probably damaging |
1.00 |
R5825:Tmprss11g
|
UTSW |
5 |
86,646,392 (GRCm39) |
missense |
probably damaging |
0.98 |
R6291:Tmprss11g
|
UTSW |
5 |
86,635,281 (GRCm39) |
missense |
probably damaging |
1.00 |
R6481:Tmprss11g
|
UTSW |
5 |
86,640,015 (GRCm39) |
missense |
probably benign |
0.20 |
R6849:Tmprss11g
|
UTSW |
5 |
86,644,491 (GRCm39) |
missense |
probably benign |
0.01 |
R6925:Tmprss11g
|
UTSW |
5 |
86,635,295 (GRCm39) |
missense |
probably benign |
0.00 |
R6925:Tmprss11g
|
UTSW |
5 |
86,635,285 (GRCm39) |
missense |
probably benign |
0.09 |
R7084:Tmprss11g
|
UTSW |
5 |
86,640,059 (GRCm39) |
missense |
probably damaging |
1.00 |
R7089:Tmprss11g
|
UTSW |
5 |
86,637,150 (GRCm39) |
missense |
probably damaging |
0.97 |
R7190:Tmprss11g
|
UTSW |
5 |
86,644,491 (GRCm39) |
missense |
probably benign |
0.18 |
R7352:Tmprss11g
|
UTSW |
5 |
86,644,401 (GRCm39) |
missense |
not run |
|
R7432:Tmprss11g
|
UTSW |
5 |
86,644,366 (GRCm39) |
missense |
possibly damaging |
0.71 |
R7514:Tmprss11g
|
UTSW |
5 |
86,645,176 (GRCm39) |
missense |
probably damaging |
1.00 |
R8198:Tmprss11g
|
UTSW |
5 |
86,646,352 (GRCm39) |
missense |
probably benign |
|
R8490:Tmprss11g
|
UTSW |
5 |
86,639,976 (GRCm39) |
critical splice donor site |
probably null |
|
R8495:Tmprss11g
|
UTSW |
5 |
86,640,119 (GRCm39) |
missense |
probably benign |
0.07 |
R8706:Tmprss11g
|
UTSW |
5 |
86,644,404 (GRCm39) |
missense |
probably damaging |
1.00 |
R8730:Tmprss11g
|
UTSW |
5 |
86,638,837 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9158:Tmprss11g
|
UTSW |
5 |
86,637,166 (GRCm39) |
missense |
probably damaging |
1.00 |
R9224:Tmprss11g
|
UTSW |
5 |
86,640,003 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2012-04-20 |