Incidental Mutation 'IGL00929:Mtmr9'
| ID |
28951 |
| 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 # |
IGL00929
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
63757100-63781402 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 63780946 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 48
(L48P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059894
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058679]
|
| AlphaFold |
Q9Z2D0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000058679
AA Change: L48P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000059894
Gene: ENSMUSG00000035078
AA Change: L48P
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp1 |
A |
T |
12: 30,954,899 (GRCm39) |
H67Q |
probably damaging |
Het |
| Ankrd13b |
A |
G |
11: 77,363,578 (GRCm39) |
S247P |
probably damaging |
Het |
| Aqp4 |
C |
T |
18: 15,526,656 (GRCm39) |
G275E |
probably benign |
Het |
| Arhgef15 |
A |
T |
11: 68,844,928 (GRCm39) |
L223Q |
probably damaging |
Het |
| Asb13 |
A |
G |
13: 3,699,427 (GRCm39) |
Y209C |
probably damaging |
Het |
| Cdk18 |
A |
G |
1: 132,046,257 (GRCm39) |
|
probably null |
Het |
| Cntnap5a |
G |
A |
1: 115,988,004 (GRCm39) |
|
probably null |
Het |
| Cops6 |
A |
G |
5: 138,159,648 (GRCm39) |
M1V |
probably null |
Het |
| Dab2ip |
A |
T |
2: 35,598,889 (GRCm39) |
M137L |
possibly damaging |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Lemd1 |
A |
G |
1: 132,184,447 (GRCm39) |
D73G |
probably benign |
Het |
| Lpin1 |
G |
A |
12: 16,623,700 (GRCm39) |
S228L |
probably benign |
Het |
| Mtcl3 |
C |
A |
10: 29,024,288 (GRCm39) |
N401K |
probably damaging |
Het |
| Ncoa3 |
T |
A |
2: 165,893,529 (GRCm39) |
|
probably null |
Het |
| Ndc1 |
T |
A |
4: 107,246,694 (GRCm39) |
N372K |
probably benign |
Het |
| Ndufa2 |
A |
G |
18: 36,877,228 (GRCm39) |
|
probably benign |
Het |
| Nmt1 |
A |
T |
11: 102,950,902 (GRCm39) |
|
probably null |
Het |
| Or52s1 |
A |
T |
7: 102,861,892 (GRCm39) |
H264L |
probably damaging |
Het |
| Pcdhgb6 |
T |
C |
18: 37,876,758 (GRCm39) |
Y489H |
probably damaging |
Het |
| Rttn |
A |
T |
18: 89,047,059 (GRCm39) |
K907M |
probably damaging |
Het |
| Sos1 |
T |
C |
17: 80,716,025 (GRCm39) |
Y979C |
probably damaging |
Het |
| Spag6l |
C |
T |
16: 16,584,877 (GRCm39) |
A424T |
possibly damaging |
Het |
| Stt3b |
A |
T |
9: 115,095,233 (GRCm39) |
I266N |
probably damaging |
Het |
| Tet3 |
A |
G |
6: 83,345,637 (GRCm39) |
L1600P |
probably benign |
Het |
| Tiam1 |
T |
A |
16: 89,591,627 (GRCm39) |
I1358F |
probably damaging |
Het |
| Usp37 |
G |
T |
1: 74,529,313 (GRCm39) |
T122N |
probably benign |
Het |
| Vit |
T |
C |
17: 78,886,830 (GRCm39) |
S153P |
probably damaging |
Het |
|
| Other mutations in Mtmr9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-04-17 |
Incidental Mutation