Incidental Mutation 'R0529:Mtmr14'
| ID |
49048 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtmr14
|
| Ensembl Gene |
ENSMUSG00000030269 |
| Gene Name |
myotubularin related protein 14 |
| Synonyms |
1110061O04Rik |
| MMRRC Submission |
038721-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
R0529 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
113214804-113258353 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 113243213 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144940
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113146]
[ENSMUST00000129883]
[ENSMUST00000134945]
[ENSMUST00000142938]
[ENSMUST00000203385]
|
| AlphaFold |
Q8VEL2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113146
|
| SMART Domains |
Protein: ENSMUSP00000108771
Gene: ENSMUSG00000030269
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
20 |
N/A |
INTRINSIC |
|
Blast:C2
|
605 |
647 |
2e-10 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129883
|
| SMART Domains |
Protein: ENSMUSP00000114575
Gene: ENSMUSG00000030269
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
20 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134945
|
| SMART Domains |
Protein: ENSMUSP00000118001
Gene: ENSMUSG00000030269
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Blast:C2
|
221 |
256 |
3e-10 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137772
|
| SMART Domains |
Protein: ENSMUSP00000119000
Gene: ENSMUSG00000030269
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myotub-related
|
10 |
231 |
5.7e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142938
|
| SMART Domains |
Protein: ENSMUSP00000121136
Gene: ENSMUSG00000030269
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
20 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144976
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148523
|
| SMART Domains |
Protein: ENSMUSP00000115808
Gene: ENSMUSG00000030269
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myotub-related
|
1 |
102 |
4.2e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203385
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151149
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.3%
|
| Validation Efficiency |
97% (58/60) |
| 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. The encoded protein is a phosphoinositide phosphatase that specifically dephosphorylates phosphatidylinositol 3,5-biphosphate and phosphatidylinositol 3-phosphate. Mutations in this gene are correlated with autosomal dominant centronuclear myopathy. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 18.[provided by RefSeq, Apr 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired coordination, decreased exercise endurance, increased muscle fatigue, and muscle atrophy associated with impaired muscular calcium homeostasis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
G |
A |
17: 9,211,228 (GRCm39) |
V126I |
probably benign |
Het |
| Aasdh |
A |
C |
5: 77,024,114 (GRCm39) |
Y179* |
probably null |
Het |
| Afp |
A |
G |
5: 90,652,254 (GRCm39) |
Y415C |
probably damaging |
Het |
| Aldh5a1 |
G |
T |
13: 25,097,856 (GRCm39) |
T393K |
probably benign |
Het |
| Arhgef26 |
T |
C |
3: 62,247,146 (GRCm39) |
S77P |
probably benign |
Het |
| Axl |
A |
G |
7: 25,486,712 (GRCm39) |
|
probably benign |
Het |
| Card10 |
A |
G |
15: 78,664,675 (GRCm39) |
|
probably null |
Het |
| Ccdc71l |
G |
A |
12: 32,429,251 (GRCm39) |
S90N |
probably damaging |
Het |
| Cebpa |
A |
T |
7: 34,819,624 (GRCm39) |
T261S |
probably benign |
Het |
| Cnmd |
T |
C |
14: 79,879,481 (GRCm39) |
E219G |
probably benign |
Het |
| Cntln |
T |
A |
4: 84,986,062 (GRCm39) |
L1010H |
probably damaging |
Het |
| Cul9 |
A |
G |
17: 46,831,394 (GRCm39) |
|
probably benign |
Het |
| Cyld |
A |
G |
8: 89,456,387 (GRCm39) |
E479G |
probably benign |
Het |
| Dmp1 |
A |
G |
5: 104,360,092 (GRCm39) |
E256G |
probably benign |
Het |
| Dnmt1 |
T |
C |
9: 20,822,846 (GRCm39) |
D1140G |
probably damaging |
Het |
| Drd2 |
A |
C |
9: 49,318,374 (GRCm39) |
M439L |
probably benign |
Het |
| Drd3 |
G |
A |
16: 43,643,077 (GRCm39) |
V438M |
probably damaging |
Het |
| Dyrk3 |
A |
G |
1: 131,057,858 (GRCm39) |
I70T |
probably benign |
Het |
| Fbxo38 |
T |
C |
18: 62,639,057 (GRCm39) |
K1082E |
probably damaging |
Het |
| Fbxw10 |
A |
C |
11: 62,750,671 (GRCm39) |
D428A |
probably damaging |
Het |
| Fmn1 |
T |
A |
2: 113,538,198 (GRCm39) |
|
probably benign |
Het |
| Fmnl2 |
A |
T |
2: 52,932,377 (GRCm39) |
I119F |
probably damaging |
Het |
| Frmd4a |
A |
G |
2: 4,610,834 (GRCm39) |
T995A |
probably damaging |
Het |
| Gda |
T |
A |
19: 21,402,901 (GRCm39) |
I82F |
probably damaging |
Het |
| Gpatch4 |
T |
A |
3: 87,958,583 (GRCm39) |
H22Q |
probably damaging |
Het |
| Gpr55 |
A |
G |
1: 85,869,225 (GRCm39) |
F119L |
probably benign |
Het |
| Gtf2i |
A |
T |
5: 134,290,723 (GRCm39) |
L425* |
probably null |
Het |
| Knstrn |
T |
A |
2: 118,661,461 (GRCm39) |
|
probably benign |
Het |
| Lipo2 |
T |
A |
19: 33,724,335 (GRCm39) |
I144L |
probably benign |
Het |
| Lrp1 |
T |
C |
10: 127,377,463 (GRCm39) |
|
probably null |
Het |
| Nsmce4a |
A |
T |
7: 130,135,536 (GRCm39) |
S345R |
probably benign |
Het |
| Oacyl |
T |
A |
18: 65,875,290 (GRCm39) |
V385D |
probably damaging |
Het |
| Or6k8-ps1 |
G |
A |
1: 173,979,696 (GRCm39) |
A205T |
probably benign |
Het |
| Or8b52 |
A |
T |
9: 38,576,808 (GRCm39) |
C111S |
probably benign |
Het |
| Phlpp2 |
T |
C |
8: 110,603,603 (GRCm39) |
S55P |
probably benign |
Het |
| Pkhd1l1 |
T |
A |
15: 44,390,150 (GRCm39) |
V1422E |
possibly damaging |
Het |
| Plcd3 |
T |
G |
11: 102,971,013 (GRCm39) |
H181P |
probably benign |
Het |
| Psmc5 |
G |
A |
11: 106,151,990 (GRCm39) |
|
probably null |
Het |
| Psmd11 |
T |
C |
11: 80,361,515 (GRCm39) |
|
probably benign |
Het |
| Rab39 |
T |
C |
9: 53,598,016 (GRCm39) |
Y83C |
probably damaging |
Het |
| Ric8a |
A |
G |
7: 140,440,806 (GRCm39) |
E93G |
probably damaging |
Het |
| Rtp3 |
T |
C |
9: 110,816,152 (GRCm39) |
E133G |
possibly damaging |
Het |
| Serpina1e |
A |
C |
12: 103,915,363 (GRCm39) |
L281R |
probably damaging |
Het |
| Slc35e1 |
T |
C |
8: 73,246,415 (GRCm39) |
|
probably benign |
Het |
| Tent5c |
A |
G |
3: 100,379,686 (GRCm39) |
Y357H |
probably benign |
Het |
| Tmem63a |
A |
T |
1: 180,788,659 (GRCm39) |
E332V |
probably benign |
Het |
| Tnk1 |
T |
C |
11: 69,745,990 (GRCm39) |
T312A |
probably damaging |
Het |
| Traf3ip3 |
G |
T |
1: 192,877,119 (GRCm39) |
|
probably benign |
Het |
| Trappc11 |
A |
G |
8: 47,980,014 (GRCm39) |
V174A |
possibly damaging |
Het |
| Vmn1r174 |
G |
A |
7: 23,453,622 (GRCm39) |
R96H |
probably benign |
Het |
| Vmn1r7 |
T |
A |
6: 57,001,450 (GRCm39) |
Y270F |
possibly damaging |
Het |
| Vmn2r12 |
A |
G |
5: 109,240,714 (GRCm39) |
V133A |
probably benign |
Het |
| Vmn2r18 |
T |
A |
5: 151,485,988 (GRCm39) |
E502V |
probably damaging |
Het |
| Wipf3 |
C |
A |
6: 54,462,348 (GRCm39) |
P186Q |
probably damaging |
Het |
| Yipf5 |
A |
T |
18: 40,345,215 (GRCm39) |
M55K |
probably benign |
Het |
| Zbtb7a |
G |
A |
10: 80,979,820 (GRCm39) |
V5M |
probably damaging |
Het |
| Zfy1 |
G |
T |
Y: 726,040 (GRCm39) |
S575Y |
probably damaging |
Het |
|
| Other mutations in Mtmr14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01063:Mtmr14
|
APN |
6 |
113,243,287 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01686:Mtmr14
|
APN |
6 |
113,217,391 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
IGL02508:Mtmr14
|
APN |
6 |
113,217,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0147:Mtmr14
|
UTSW |
6 |
113,237,627 (GRCm39) |
splice site |
probably benign |
|
|
R0394:Mtmr14
|
UTSW |
6 |
113,257,649 (GRCm39) |
nonsense |
probably null |
|
|
R0675:Mtmr14
|
UTSW |
6 |
113,247,608 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0723:Mtmr14
|
UTSW |
6 |
113,247,473 (GRCm39) |
unclassified |
probably benign |
|
|
R0785:Mtmr14
|
UTSW |
6 |
113,254,908 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0866:Mtmr14
|
UTSW |
6 |
113,216,543 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1721:Mtmr14
|
UTSW |
6 |
113,230,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1998:Mtmr14
|
UTSW |
6 |
113,254,885 (GRCm39) |
missense |
probably null |
|
|
R2063:Mtmr14
|
UTSW |
6 |
113,217,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2192:Mtmr14
|
UTSW |
6 |
113,257,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2656:Mtmr14
|
UTSW |
6 |
113,217,327 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4648:Mtmr14
|
UTSW |
6 |
113,237,567 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5209:Mtmr14
|
UTSW |
6 |
113,230,736 (GRCm39) |
nonsense |
probably null |
|
|
R5509:Mtmr14
|
UTSW |
6 |
113,230,768 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5569:Mtmr14
|
UTSW |
6 |
113,217,246 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5589:Mtmr14
|
UTSW |
6 |
113,238,243 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5924:Mtmr14
|
UTSW |
6 |
113,230,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5997:Mtmr14
|
UTSW |
6 |
113,257,575 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6182:Mtmr14
|
UTSW |
6 |
113,246,469 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6658:Mtmr14
|
UTSW |
6 |
113,242,437 (GRCm39) |
nonsense |
probably null |
|
|
R6752:Mtmr14
|
UTSW |
6 |
113,217,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7325:Mtmr14
|
UTSW |
6 |
113,246,509 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7512:Mtmr14
|
UTSW |
6 |
113,245,652 (GRCm39) |
nonsense |
probably null |
|
|
R7816:Mtmr14
|
UTSW |
6 |
113,243,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8172:Mtmr14
|
UTSW |
6 |
113,216,529 (GRCm39) |
missense |
probably benign |
|
|
R9355:Mtmr14
|
UTSW |
6 |
113,214,948 (GRCm39) |
frame shift |
probably null |
|
|
X0023:Mtmr14
|
UTSW |
6 |
113,238,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGTGAGTATGAATGAGCTGGAGCG -3'
(R):5'- TGAAGCCTGCCAACATCTTTGATCC -3'
Sequencing Primer
(F):5'- GGGGAATATGCAGAGACCCTATTAG -3'
(R):5'- TTGATCCTTTCCAAAGAGAGCC -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation