Incidental Mutation 'IGL02868:Mtmr9'
ID |
362389 |
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 # |
IGL02868
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
63757100-63781402 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 63761588 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 522
(N522S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000059894
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058679]
|
AlphaFold |
Q9Z2D0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000058679
AA Change: N522S
PolyPhen 2
Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000059894 Gene: ENSMUSG00000035078 AA Change: N522S
Domain | Start | End | E-Value | Type |
Pfam:Myotub-related
|
108 |
446 |
2.2e-133 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000225449
AA Change: N93S
|
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap4 |
A |
G |
X: 72,944,008 (GRCm39) |
I224T |
probably benign |
Het |
Atp12a |
A |
G |
14: 56,621,639 (GRCm39) |
D758G |
probably damaging |
Het |
Clca3b |
C |
A |
3: 144,533,325 (GRCm39) |
G569V |
probably damaging |
Het |
Dlgap4 |
G |
A |
2: 156,542,816 (GRCm39) |
R73Q |
probably damaging |
Het |
Efcc1 |
C |
T |
6: 87,728,743 (GRCm39) |
|
probably benign |
Het |
Eno3 |
T |
A |
11: 70,552,826 (GRCm39) |
V369E |
probably damaging |
Het |
Espl1 |
T |
A |
15: 102,222,425 (GRCm39) |
C1022* |
probably null |
Het |
Grhl3 |
T |
C |
4: 135,281,915 (GRCm39) |
D319G |
probably damaging |
Het |
Huwe1 |
G |
A |
X: 150,691,829 (GRCm39) |
R2538H |
possibly damaging |
Het |
Lrrc37 |
A |
T |
11: 103,505,965 (GRCm39) |
L2001H |
probably benign |
Het |
Ms4a4d |
T |
A |
19: 11,527,646 (GRCm39) |
I51N |
probably damaging |
Het |
Nfe2l1 |
A |
G |
11: 96,710,966 (GRCm39) |
I133T |
probably damaging |
Het |
Ninl |
A |
G |
2: 150,778,974 (GRCm39) |
Y1296H |
probably benign |
Het |
Nipal3 |
A |
G |
4: 135,194,182 (GRCm39) |
S284P |
probably damaging |
Het |
Or4k40 |
A |
T |
2: 111,250,838 (GRCm39) |
F153I |
possibly damaging |
Het |
Or5g9 |
A |
T |
2: 85,551,919 (GRCm39) |
T57S |
probably benign |
Het |
Pramel5 |
G |
T |
4: 143,997,922 (GRCm39) |
N440K |
probably benign |
Het |
Rabep1 |
T |
C |
11: 70,765,572 (GRCm39) |
V12A |
probably benign |
Het |
Rbm5 |
G |
T |
9: 107,626,899 (GRCm39) |
|
probably benign |
Het |
Ric3 |
T |
C |
7: 108,653,626 (GRCm39) |
E155G |
probably damaging |
Het |
Slc12a7 |
T |
A |
13: 73,954,507 (GRCm39) |
M897K |
probably benign |
Het |
Slc39a8 |
G |
T |
3: 135,561,787 (GRCm39) |
A169S |
probably damaging |
Het |
Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
Synrg |
G |
A |
11: 83,877,876 (GRCm39) |
|
probably benign |
Het |
Tas2r107 |
T |
C |
6: 131,636,249 (GRCm39) |
T267A |
probably benign |
Het |
Tead3 |
G |
T |
17: 28,552,069 (GRCm39) |
Y354* |
probably null |
Het |
Trim3 |
T |
C |
7: 105,262,239 (GRCm39) |
K579R |
possibly damaging |
Het |
Uaca |
A |
T |
9: 60,770,919 (GRCm39) |
K362M |
probably damaging |
Het |
Vmn2r94 |
A |
G |
17: 18,464,316 (GRCm39) |
I658T |
possibly damaging |
Het |
Vps13b |
C |
T |
15: 35,884,665 (GRCm39) |
P3113S |
probably benign |
Het |
Zfp251 |
A |
G |
15: 76,738,734 (GRCm39) |
S115P |
probably damaging |
Het |
Zfp683 |
G |
A |
4: 133,783,177 (GRCm39) |
V214M |
probably benign |
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 |
IGL02276:Mtmr9
|
APN |
14 |
63,767,725 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2015-12-18 |