Incidental Mutation 'R2656:Mtmr14'
ID |
252741 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mtmr14
|
Ensembl Gene |
ENSMUSG00000030269 |
Gene Name |
myotubularin related protein 14 |
Synonyms |
1110061O04Rik |
MMRRC Submission |
040431-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.090)
|
Stock # |
R2656 (G1)
|
Quality Score |
191 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
113214804-113258353 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 113217327 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 80
(I80V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121136
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113146]
[ENSMUST00000129883]
[ENSMUST00000142938]
[ENSMUST00000156141]
|
AlphaFold |
Q8VEL2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000113146
AA Change: I80V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000108771 Gene: ENSMUSG00000030269 AA Change: I80V
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
AA Change: I80V
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000114575 Gene: ENSMUSG00000030269 AA Change: I80V
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
20 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000142938
AA Change: I80V
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000121136 Gene: ENSMUSG00000030269 AA Change: I80V
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
20 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000156141
AA Change: I40V
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.3%
|
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. 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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam22 |
A |
G |
5: 8,167,696 (GRCm39) |
C655R |
probably damaging |
Het |
Adgrf3 |
A |
T |
5: 30,401,436 (GRCm39) |
V864D |
possibly damaging |
Het |
Angptl3 |
A |
G |
4: 98,926,201 (GRCm39) |
I444V |
probably benign |
Het |
Atp8b2 |
C |
T |
3: 89,849,065 (GRCm39) |
A1090T |
probably benign |
Het |
Bcl2l2 |
C |
T |
14: 55,122,889 (GRCm39) |
R47C |
probably benign |
Het |
Ces2a |
G |
A |
8: 105,462,766 (GRCm39) |
M118I |
probably benign |
Het |
Cyp4a29 |
T |
G |
4: 115,106,921 (GRCm39) |
L193V |
possibly damaging |
Het |
Dpp8 |
A |
G |
9: 64,988,086 (GRCm39) |
Y877C |
probably damaging |
Het |
Enpp6 |
C |
T |
8: 47,535,453 (GRCm39) |
R33* |
probably null |
Het |
Fsip2 |
G |
A |
2: 82,809,389 (GRCm39) |
D1903N |
possibly damaging |
Het |
Ggt1 |
T |
A |
10: 75,417,219 (GRCm39) |
Y5* |
probably null |
Het |
Gm14412 |
A |
T |
2: 177,006,993 (GRCm39) |
C301S |
unknown |
Het |
Gpatch2l |
T |
A |
12: 86,335,584 (GRCm39) |
D428E |
probably damaging |
Het |
Grin2b |
C |
T |
6: 135,710,427 (GRCm39) |
G1040S |
probably damaging |
Het |
Has2 |
T |
C |
15: 56,545,224 (GRCm39) |
D126G |
possibly damaging |
Het |
Itgam |
T |
G |
7: 127,715,987 (GRCm39) |
L1120R |
probably null |
Het |
Kank4 |
T |
C |
4: 98,667,194 (GRCm39) |
N418D |
probably damaging |
Het |
Kcnk3 |
T |
C |
5: 30,780,015 (GRCm39) |
V355A |
possibly damaging |
Het |
Lonrf2 |
C |
T |
1: 38,855,041 (GRCm39) |
|
probably null |
Het |
Lrp1b |
A |
T |
2: 41,401,593 (GRCm39) |
C240S |
probably damaging |
Het |
Mapk8ip3 |
T |
G |
17: 25,131,781 (GRCm39) |
E386A |
probably damaging |
Het |
Nav2 |
A |
C |
7: 49,195,690 (GRCm39) |
D961A |
probably damaging |
Het |
Nmt2 |
A |
G |
2: 3,308,050 (GRCm39) |
D107G |
probably benign |
Het |
Nsd1 |
A |
G |
13: 55,394,681 (GRCm39) |
K761E |
probably damaging |
Het |
Ogdh |
A |
G |
11: 6,298,678 (GRCm39) |
T641A |
probably benign |
Het |
Ogdhl |
T |
G |
14: 32,054,783 (GRCm39) |
F244V |
possibly damaging |
Het |
Or2ag17 |
T |
A |
7: 106,389,720 (GRCm39) |
T163S |
probably damaging |
Het |
Or51k1 |
G |
A |
7: 103,661,072 (GRCm39) |
S279L |
probably damaging |
Het |
Or5b102 |
A |
T |
19: 13,041,348 (GRCm39) |
H191L |
probably benign |
Het |
Or5b97 |
A |
G |
19: 12,879,030 (GRCm39) |
I38T |
probably benign |
Het |
Pfpl |
T |
C |
19: 12,407,600 (GRCm39) |
I617T |
probably benign |
Het |
Ppfia2 |
T |
G |
10: 106,701,268 (GRCm39) |
|
probably null |
Het |
Prickle1 |
T |
C |
15: 93,401,251 (GRCm39) |
E411G |
probably benign |
Het |
Prpsap2 |
C |
A |
11: 61,621,051 (GRCm39) |
M343I |
probably benign |
Het |
Prpsap2 |
A |
G |
11: 61,643,717 (GRCm39) |
V72A |
probably benign |
Het |
Ranbp17 |
A |
T |
11: 33,193,122 (GRCm39) |
D977E |
probably benign |
Het |
Rin1 |
T |
C |
19: 5,102,204 (GRCm39) |
S238P |
probably damaging |
Het |
Scap |
C |
T |
9: 110,203,087 (GRCm39) |
R254W |
probably damaging |
Het |
Scn3a |
T |
C |
2: 65,356,862 (GRCm39) |
D194G |
probably damaging |
Het |
Shisa7 |
T |
C |
7: 4,832,818 (GRCm39) |
H481R |
possibly damaging |
Het |
Slc6a6 |
T |
C |
6: 91,718,029 (GRCm39) |
Y323H |
probably damaging |
Het |
Thoc2l |
A |
G |
5: 104,667,181 (GRCm39) |
I568V |
probably benign |
Het |
Tlr9 |
T |
C |
9: 106,101,140 (GRCm39) |
S144P |
probably benign |
Het |
Tmem69 |
T |
A |
4: 116,410,787 (GRCm39) |
K61M |
probably damaging |
Het |
Ttc21a |
A |
G |
9: 119,770,331 (GRCm39) |
D134G |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,724,614 (GRCm39) |
|
probably benign |
Het |
Vwf |
A |
G |
6: 125,532,324 (GRCm39) |
T26A |
probably benign |
Het |
Zbtb16 |
A |
T |
9: 48,743,988 (GRCm39) |
I108N |
probably damaging |
Het |
Zc3h7b |
T |
A |
15: 81,664,631 (GRCm39) |
Y497N |
probably damaging |
Het |
Zfp652 |
A |
G |
11: 95,640,155 (GRCm39) |
S27G |
probably damaging |
Het |
Zfp808 |
A |
G |
13: 62,320,666 (GRCm39) |
T632A |
possibly damaging |
Het |
Znhit6 |
T |
C |
3: 145,283,924 (GRCm39) |
|
probably null |
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 |
|
R0529:Mtmr14
|
UTSW |
6 |
113,243,213 (GRCm39) |
unclassified |
probably benign |
|
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 |
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'- AGGGGCCTCTTTGGATCATG -3'
(R):5'- TCTGAAGCTGTACTACTTGGCC -3'
Sequencing Primer
(F):5'- TGGATCATGGGCCACTTAAGCTC -3'
(R):5'- CCTTAAGTCCGTAAAGATGCCAGG -3'
|
Posted On |
2014-12-04 |