Incidental Mutation 'IGL02276:Mtmr9'
ID |
287340 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Mtmr9
|
Ensembl Gene |
ENSMUSG00000035078 |
Gene Name |
myotubularin related protein 9 |
Synonyms |
MTMR8, 9430075G12Rik, LIP-STYX, mMTMH3 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.412)
|
Stock # |
IGL02276
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
63757100-63781402 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 63767725 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 295
(W295R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000059894
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058679]
|
AlphaFold |
Q9Z2D0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000058679
AA Change: W295R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000059894 Gene: ENSMUSG00000035078 AA Change: W295R
Domain | Start | End | E-Value | Type |
Pfam:Myotub-related
|
108 |
446 |
2.2e-133 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225449
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a myotubularin-related protein that is atypical to most other members of the myotubularin-related protein family because it has no dual-specificity phosphatase domain. The encoded protein contains a double-helical motif similar to the SET interaction domain, which is thought to have a role in the control of cell proliferation. In mouse, a protein similar to the encoded protein binds with MTMR7, and together they dephosphorylate phosphatidylinositol 3-phosphate and inositol 1,3-bisphosphate. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy10 |
T |
C |
1: 165,386,697 (GRCm39) |
V1140A |
probably damaging |
Het |
Ccdc88b |
A |
G |
19: 6,833,475 (GRCm39) |
|
probably null |
Het |
Cep135 |
A |
G |
5: 76,782,093 (GRCm39) |
N904S |
probably benign |
Het |
Dnajc12 |
G |
A |
10: 63,244,037 (GRCm39) |
R109Q |
probably damaging |
Het |
Dpp4 |
A |
G |
2: 62,187,295 (GRCm39) |
|
probably benign |
Het |
Duox2 |
A |
T |
2: 122,124,566 (GRCm39) |
N380K |
probably benign |
Het |
Dusp11 |
A |
T |
6: 85,935,599 (GRCm39) |
D91E |
probably damaging |
Het |
Fkbp15 |
C |
A |
4: 62,254,703 (GRCm39) |
E266* |
probably null |
Het |
Gm10337 |
A |
G |
15: 102,412,169 (GRCm39) |
V324A |
probably damaging |
Het |
Grik3 |
A |
T |
4: 125,517,295 (GRCm39) |
D46V |
possibly damaging |
Het |
Hdac9 |
G |
A |
12: 34,481,925 (GRCm39) |
T181I |
probably damaging |
Het |
Iigp1c |
A |
T |
18: 60,379,151 (GRCm39) |
I229F |
probably damaging |
Het |
Large1 |
T |
A |
8: 73,544,721 (GRCm39) |
M686L |
probably benign |
Het |
Lca5 |
C |
A |
9: 83,280,638 (GRCm39) |
L387F |
possibly damaging |
Het |
Or2h15 |
A |
G |
17: 38,441,484 (GRCm39) |
S200P |
probably damaging |
Het |
Or5ac15 |
A |
C |
16: 58,940,378 (GRCm39) |
D18E |
probably benign |
Het |
Phf20l1 |
T |
A |
15: 66,487,259 (GRCm39) |
|
probably null |
Het |
Plce1 |
A |
G |
19: 38,513,201 (GRCm39) |
S167G |
probably benign |
Het |
Plekha6 |
C |
A |
1: 133,221,599 (GRCm39) |
D934E |
possibly damaging |
Het |
Pramel17 |
T |
C |
4: 101,695,306 (GRCm39) |
S2G |
possibly damaging |
Het |
Ptpn6 |
A |
C |
6: 124,705,828 (GRCm39) |
D105E |
probably null |
Het |
Rtp1 |
T |
C |
16: 23,250,063 (GRCm39) |
S143P |
probably benign |
Het |
Rttn |
A |
C |
18: 89,066,578 (GRCm39) |
Q1208P |
possibly damaging |
Het |
Snx27 |
A |
T |
3: 94,438,686 (GRCm39) |
V183D |
probably damaging |
Het |
Stim2 |
T |
C |
5: 54,210,712 (GRCm39) |
|
probably benign |
Het |
Trak1 |
A |
T |
9: 121,280,734 (GRCm39) |
E271D |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,774,226 (GRCm39) |
|
probably benign |
Het |
Vmn2r4 |
G |
A |
3: 64,313,877 (GRCm39) |
T279I |
possibly damaging |
Het |
Vmn2r73 |
A |
T |
7: 85,518,980 (GRCm39) |
|
probably null |
Het |
Zfp819 |
G |
A |
7: 43,261,428 (GRCm39) |
V32I |
possibly damaging |
Het |
|
Other mutations in Mtmr9 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00929:Mtmr9
|
APN |
14 |
63,780,946 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01309:Mtmr9
|
APN |
14 |
63,764,254 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01999:Mtmr9
|
APN |
14 |
63,779,903 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02164:Mtmr9
|
APN |
14 |
63,767,737 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02868:Mtmr9
|
APN |
14 |
63,761,588 (GRCm39) |
missense |
probably benign |
0.41 |
IGL03347:Mtmr9
|
APN |
14 |
63,781,016 (GRCm39) |
missense |
probably benign |
0.03 |
R0089:Mtmr9
|
UTSW |
14 |
63,765,696 (GRCm39) |
missense |
possibly damaging |
0.80 |
R1231:Mtmr9
|
UTSW |
14 |
63,765,640 (GRCm39) |
missense |
possibly damaging |
0.55 |
R1562:Mtmr9
|
UTSW |
14 |
63,771,786 (GRCm39) |
missense |
probably benign |
|
R1726:Mtmr9
|
UTSW |
14 |
63,774,547 (GRCm39) |
missense |
possibly damaging |
0.93 |
R2016:Mtmr9
|
UTSW |
14 |
63,777,713 (GRCm39) |
missense |
possibly damaging |
0.59 |
R3751:Mtmr9
|
UTSW |
14 |
63,780,997 (GRCm39) |
missense |
probably damaging |
1.00 |
R6092:Mtmr9
|
UTSW |
14 |
63,779,901 (GRCm39) |
missense |
possibly damaging |
0.47 |
R6139:Mtmr9
|
UTSW |
14 |
63,767,227 (GRCm39) |
missense |
probably benign |
|
R6928:Mtmr9
|
UTSW |
14 |
63,781,042 (GRCm39) |
missense |
probably benign |
0.03 |
R7158:Mtmr9
|
UTSW |
14 |
63,764,318 (GRCm39) |
missense |
probably benign |
|
R7939:Mtmr9
|
UTSW |
14 |
63,771,973 (GRCm39) |
missense |
probably damaging |
1.00 |
R8859:Mtmr9
|
UTSW |
14 |
63,781,226 (GRCm39) |
start gained |
probably benign |
|
R9037:Mtmr9
|
UTSW |
14 |
63,761,532 (GRCm39) |
missense |
possibly damaging |
0.67 |
R9276:Mtmr9
|
UTSW |
14 |
63,781,001 (GRCm39) |
missense |
probably damaging |
1.00 |
R9547:Mtmr9
|
UTSW |
14 |
63,779,855 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
Posted On |
2015-04-16 |