Incidental Mutation 'IGL02417:Tmprss11g'
| ID |
292496 |
| 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 # |
IGL02417
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
86633736-86666459 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 86638750 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 246
(V246A)
|
| 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: V259A
PolyPhen 2
Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000122709
Gene: ENSMUSG00000079451
AA Change: V259A
| 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: V246A
PolyPhen 2
Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000115540
Gene: ENSMUSG00000079451
AA Change: V246A
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap5 |
T |
A |
12: 52,565,136 (GRCm39) |
N702K |
probably damaging |
Het |
| Atm |
T |
C |
9: 53,390,995 (GRCm39) |
T1860A |
probably benign |
Het |
| Bicdl1 |
A |
T |
5: 115,811,217 (GRCm39) |
H231Q |
probably damaging |
Het |
| C2cd5 |
A |
C |
6: 142,987,218 (GRCm39) |
D470E |
probably damaging |
Het |
| Chd5 |
T |
C |
4: 152,451,751 (GRCm39) |
F688L |
probably damaging |
Het |
| Cul3 |
T |
C |
1: 80,300,619 (GRCm39) |
Y74C |
probably damaging |
Het |
| Dhx16 |
A |
G |
17: 36,203,429 (GRCm39) |
E1042G |
probably damaging |
Het |
| Dnah11 |
A |
G |
12: 118,020,915 (GRCm39) |
L1966P |
probably damaging |
Het |
| Dpy19l1 |
A |
T |
9: 24,386,682 (GRCm39) |
I204N |
possibly damaging |
Het |
| Drd2 |
T |
C |
9: 49,313,559 (GRCm39) |
|
probably benign |
Het |
| Fasn |
A |
G |
11: 120,711,166 (GRCm39) |
V228A |
probably damaging |
Het |
| Fggy |
T |
C |
4: 95,737,846 (GRCm39) |
W148R |
probably benign |
Het |
| Gm9631 |
G |
A |
11: 121,834,478 (GRCm39) |
|
|
Het |
| Gpr89 |
A |
T |
3: 96,804,741 (GRCm39) |
Y38* |
probably null |
Het |
| H2-M1 |
G |
A |
17: 36,983,026 (GRCm39) |
H22Y |
possibly damaging |
Het |
| Kdm3b |
T |
A |
18: 34,941,630 (GRCm39) |
S574T |
probably benign |
Het |
| Kmt2c |
C |
T |
5: 25,578,018 (GRCm39) |
V753I |
probably benign |
Het |
| Lcn9 |
T |
C |
2: 25,713,692 (GRCm39) |
F73L |
possibly damaging |
Het |
| Lnpep |
T |
C |
17: 17,765,165 (GRCm39) |
T762A |
possibly damaging |
Het |
| Lrp2 |
C |
T |
2: 69,291,649 (GRCm39) |
C3510Y |
probably damaging |
Het |
| Nlrp3 |
T |
A |
11: 59,456,849 (GRCm39) |
|
probably benign |
Het |
| Or14c39 |
A |
G |
7: 86,344,027 (GRCm39) |
Y121C |
probably damaging |
Het |
| Or1j18 |
A |
T |
2: 36,624,356 (GRCm39) |
I8F |
probably benign |
Het |
| Or5b3 |
A |
G |
19: 13,388,259 (GRCm39) |
T109A |
possibly damaging |
Het |
| Pcnx3 |
A |
T |
19: 5,736,509 (GRCm39) |
V176E |
possibly damaging |
Het |
| Phlpp1 |
T |
C |
1: 106,320,444 (GRCm39) |
S1480P |
probably benign |
Het |
| Ppfia3 |
T |
C |
7: 44,991,141 (GRCm39) |
R1027G |
probably damaging |
Het |
| Rnf216 |
A |
G |
5: 143,054,665 (GRCm39) |
Y628H |
possibly damaging |
Het |
| Sh3bp1 |
G |
A |
15: 78,785,699 (GRCm39) |
R4Q |
probably damaging |
Het |
| Skint9 |
A |
G |
4: 112,271,335 (GRCm39) |
|
probably benign |
Het |
| Slc25a51 |
A |
G |
4: 45,400,074 (GRCm39) |
S39P |
probably benign |
Het |
| Smarca4 |
C |
T |
9: 21,612,386 (GRCm39) |
R1558C |
probably damaging |
Het |
| Spag9 |
A |
G |
11: 94,007,567 (GRCm39) |
S1224G |
probably benign |
Het |
| Spdl1 |
G |
T |
11: 34,704,181 (GRCm39) |
Q551K |
probably benign |
Het |
| Sugt1 |
A |
G |
14: 79,847,698 (GRCm39) |
I183V |
probably benign |
Het |
| Th |
G |
A |
7: 142,453,643 (GRCm39) |
S19L |
probably damaging |
Het |
| Tnfaip8l2 |
T |
C |
3: 95,047,714 (GRCm39) |
T50A |
probably benign |
Het |
| Tox3 |
G |
T |
8: 90,984,759 (GRCm39) |
T140K |
possibly damaging |
Het |
| Unc50 |
T |
A |
1: 37,476,531 (GRCm39) |
Y205* |
probably null |
Het |
| Vmn2r83 |
A |
T |
10: 79,314,881 (GRCm39) |
K376N |
probably benign |
Het |
|
| Other mutations in Tmprss11g |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00423:Tmprss11g
|
APN |
5 |
86,640,050 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01611:Tmprss11g
|
APN |
5 |
86,638,640 (GRCm39) |
missense |
probably benign |
0.02 |
|
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 |
2015-04-16 |
Incidental Mutation