Incidental Mutation 'IGL01999:Mtmr9'
ID |
182141 |
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: 0.468)
|
Stock # |
IGL01999
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
63757100-63781402 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 63779903 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Cysteine
at position 62
(F62C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000059894
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058679]
|
AlphaFold |
Q9Z2D0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000058679
AA Change: F62C
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000059894 Gene: ENSMUSG00000035078 AA Change: F62C
Domain | Start | End | E-Value | Type |
Pfam:Myotub-related
|
108 |
446 |
2.2e-133 |
PFAM |
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cabs1 |
C |
T |
5: 88,127,787 (GRCm39) |
T146I |
possibly damaging |
Het |
Cfap161 |
C |
T |
7: 83,440,899 (GRCm39) |
V118M |
probably damaging |
Het |
Cfap95 |
C |
A |
19: 23,569,529 (GRCm39) |
L130F |
possibly damaging |
Het |
Chrna7 |
T |
C |
7: 62,753,539 (GRCm39) |
M327V |
probably damaging |
Het |
Ddx18 |
A |
G |
1: 121,489,457 (GRCm39) |
I228T |
probably benign |
Het |
Dnhd1 |
T |
A |
7: 105,370,422 (GRCm39) |
S4616T |
possibly damaging |
Het |
Dsp |
T |
A |
13: 38,365,162 (GRCm39) |
M515K |
probably damaging |
Het |
Dysf |
C |
T |
6: 84,090,600 (GRCm39) |
P1002L |
probably damaging |
Het |
Exoc7 |
T |
C |
11: 116,191,926 (GRCm39) |
|
probably null |
Het |
Gria2 |
G |
A |
3: 80,639,398 (GRCm39) |
R205W |
probably damaging |
Het |
Hacd2 |
T |
C |
16: 34,869,083 (GRCm39) |
|
probably benign |
Het |
Helz |
G |
T |
11: 107,493,754 (GRCm39) |
|
probably benign |
Het |
Hgfac |
A |
G |
5: 35,202,155 (GRCm39) |
N352S |
probably benign |
Het |
Mfsd11 |
T |
A |
11: 116,752,411 (GRCm39) |
F135I |
probably damaging |
Het |
Mtmr10 |
A |
G |
7: 63,987,460 (GRCm39) |
N667D |
probably benign |
Het |
Nelfcd |
T |
C |
2: 174,265,308 (GRCm39) |
|
probably benign |
Het |
Nfasc |
A |
G |
1: 132,532,985 (GRCm39) |
|
probably benign |
Het |
Npnt |
C |
T |
3: 132,614,160 (GRCm39) |
R150Q |
probably damaging |
Het |
Or5b108 |
G |
A |
19: 13,168,924 (GRCm39) |
A298T |
probably damaging |
Het |
Or5p55 |
C |
T |
7: 107,566,675 (GRCm39) |
R24C |
probably benign |
Het |
Or6b13 |
C |
T |
7: 139,782,345 (GRCm39) |
E113K |
probably damaging |
Het |
Pcdhb2 |
C |
T |
18: 37,429,890 (GRCm39) |
A621V |
probably damaging |
Het |
Pkd1l1 |
C |
A |
11: 8,786,291 (GRCm39) |
W1921L |
probably benign |
Het |
Plcb1 |
G |
A |
2: 135,188,238 (GRCm39) |
R777Q |
probably damaging |
Het |
Plch1 |
G |
A |
3: 63,660,728 (GRCm39) |
P297L |
probably damaging |
Het |
Ppp2r2b |
T |
C |
18: 42,778,788 (GRCm39) |
|
probably benign |
Het |
Ppp6r2 |
A |
G |
15: 89,154,155 (GRCm39) |
D372G |
probably benign |
Het |
Rtn4r |
A |
G |
16: 17,969,321 (GRCm39) |
R250G |
possibly damaging |
Het |
Sec61a2 |
A |
G |
2: 5,896,174 (GRCm39) |
|
probably benign |
Het |
Sema3g |
G |
T |
14: 30,939,922 (GRCm39) |
V19L |
probably benign |
Het |
Sult2a7 |
T |
C |
7: 14,225,648 (GRCm39) |
T113A |
probably benign |
Het |
Tcp11l1 |
T |
C |
2: 104,528,914 (GRCm39) |
D128G |
possibly damaging |
Het |
Tln2 |
C |
T |
9: 67,299,787 (GRCm39) |
R155Q |
possibly damaging |
Het |
Vcan |
A |
G |
13: 89,832,557 (GRCm39) |
L2150P |
probably damaging |
Het |
Vmn1r40 |
A |
C |
6: 89,691,948 (GRCm39) |
N255T |
probably benign |
Het |
Vmn2r68 |
T |
C |
7: 84,871,439 (GRCm39) |
N615D |
probably damaging |
Het |
Zdhhc25 |
A |
G |
15: 88,485,217 (GRCm39) |
E184G |
probably 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 |
IGL02164:Mtmr9
|
APN |
14 |
63,767,737 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02276:Mtmr9
|
APN |
14 |
63,767,725 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2014-05-07 |