Incidental Mutation 'R1231:Mtmr9'
| ID |
152301 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtmr9
|
| Ensembl Gene |
ENSMUSG00000035078 |
| Gene Name |
myotubularin related protein 9 |
| Synonyms |
MTMR8, 9430075G12Rik, LIP-STYX, mMTMH3 |
| MMRRC Submission |
039300-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.468)
|
| Stock # |
R1231 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
63757100-63781402 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 63765640 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 418
(N418K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059894
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058679]
|
| AlphaFold |
Q9Z2D0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000058679
AA Change: N418K
PolyPhen 2
Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000059894
Gene: ENSMUSG00000035078
AA Change: N418K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myotub-related
|
108 |
446 |
2.2e-133 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225449
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.3%
- 10x: 96.0%
- 20x: 91.6%
|
| 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: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ascc3 |
C |
T |
10: 50,699,756 (GRCm39) |
P1860S |
probably damaging |
Het |
| Cabp5 |
T |
C |
7: 13,139,350 (GRCm39) |
I125T |
probably damaging |
Het |
| Ccnd2 |
A |
T |
6: 127,107,363 (GRCm39) |
S269T |
probably benign |
Het |
| Cmss1 |
C |
T |
16: 57,136,560 (GRCm39) |
R104H |
probably benign |
Het |
| Dock9 |
A |
T |
14: 121,813,362 (GRCm39) |
M1522K |
possibly damaging |
Het |
| Fcrl5 |
A |
G |
3: 87,349,486 (GRCm39) |
H87R |
probably benign |
Het |
| Gabrr3 |
G |
A |
16: 59,281,763 (GRCm39) |
D373N |
probably benign |
Het |
| Gm21738 |
T |
A |
14: 19,415,957 (GRCm38) |
Y194F |
probably benign |
Het |
| Gm21738 |
T |
C |
14: 19,415,963 (GRCm38) |
K192R |
probably benign |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Itgae |
C |
T |
11: 73,010,205 (GRCm39) |
T565I |
probably benign |
Het |
| Mocos |
G |
T |
18: 24,812,758 (GRCm39) |
A551S |
probably benign |
Het |
| Mtus2 |
T |
A |
5: 148,014,198 (GRCm39) |
S330R |
probably benign |
Het |
| Or2t1 |
A |
T |
14: 14,328,515 (GRCm38) |
M135L |
probably benign |
Het |
| Psg16 |
T |
A |
7: 16,829,230 (GRCm39) |
Y271* |
probably null |
Het |
| Psmd2 |
T |
A |
16: 20,474,335 (GRCm39) |
M297K |
possibly damaging |
Het |
| Rnf220 |
A |
T |
4: 117,347,081 (GRCm39) |
S110R |
probably damaging |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| St8sia5 |
T |
C |
18: 77,320,502 (GRCm39) |
Y49H |
probably damaging |
Het |
| Umodl1 |
A |
G |
17: 31,178,252 (GRCm39) |
Y76C |
probably damaging |
Het |
| Urm1 |
G |
T |
2: 29,722,711 (GRCm39) |
A15S |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGCAAGACACTAACATGAAAATGGCT -3'
(R):5'- CAGGAAGTAGAAGTGCCCTGGGA -3'
Sequencing Primer
(F):5'- atctgcctgcctctgcc -3'
(R):5'- TAGAAGTGCCCTGGGATTGTTTG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation