Incidental Mutation 'IGL01063:Mtmr14'
ID |
51231 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Mtmr14
|
Ensembl Gene |
ENSMUSG00000030269 |
Gene Name |
myotubularin related protein 14 |
Synonyms |
1110061O04Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.090)
|
Stock # |
IGL01063
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
113214804-113258353 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 113243287 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Isoleucine
at position 40
(F40I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118001
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113146]
[ENSMUST00000129883]
[ENSMUST00000134945]
[ENSMUST00000142938]
[ENSMUST00000203385]
|
AlphaFold |
Q8VEL2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000113146
AA Change: F372I
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000108771 Gene: ENSMUSG00000030269 AA Change: F372I
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 damaging
Transcript: ENSMUST00000134945
AA Change: F40I
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000118001 Gene: ENSMUSG00000030269 AA Change: F40I
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
Blast:C2
|
221 |
256 |
3e-10 |
BLAST |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000137772
AA Change: F85I
|
SMART Domains |
Protein: ENSMUSP00000119000 Gene: ENSMUSG00000030269 AA Change: F85I
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 |
unknown
Transcript: ENSMUST00000148523
AA Change: F50I
|
SMART Domains |
Protein: ENSMUSP00000115808 Gene: ENSMUSG00000030269 AA Change: F50I
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 |
|
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
4930444P10Rik |
A |
T |
1: 16,148,870 (GRCm39) |
L61* |
probably null |
Het |
Abca7 |
T |
C |
10: 79,847,131 (GRCm39) |
I1705T |
probably damaging |
Het |
Ablim1 |
T |
A |
19: 57,049,760 (GRCm39) |
I393F |
probably damaging |
Het |
Adamts5 |
A |
G |
16: 85,696,722 (GRCm39) |
L145P |
probably damaging |
Het |
Ano6 |
T |
C |
15: 95,846,310 (GRCm39) |
I537T |
probably damaging |
Het |
AU018091 |
T |
C |
7: 3,212,153 (GRCm39) |
I190V |
possibly damaging |
Het |
Camk1 |
T |
A |
6: 113,315,333 (GRCm39) |
D155V |
probably damaging |
Het |
Cdh6 |
A |
C |
15: 13,064,581 (GRCm39) |
I103S |
probably damaging |
Het |
Cntnap1 |
A |
G |
11: 101,072,614 (GRCm39) |
D537G |
probably benign |
Het |
Col6a3 |
T |
C |
1: 90,730,054 (GRCm39) |
K1144E |
probably damaging |
Het |
Cpeb1 |
T |
A |
7: 81,021,929 (GRCm39) |
E71D |
probably benign |
Het |
Cps1 |
T |
C |
1: 67,234,325 (GRCm39) |
L904P |
possibly damaging |
Het |
Cyfip1 |
T |
A |
7: 55,553,958 (GRCm39) |
F700I |
probably damaging |
Het |
Dmp1 |
G |
A |
5: 104,354,965 (GRCm39) |
M1I |
probably null |
Het |
Efcab6 |
A |
T |
15: 83,938,713 (GRCm39) |
M1K |
probably null |
Het |
Extl2 |
A |
T |
3: 115,821,131 (GRCm39) |
H312L |
possibly damaging |
Het |
Fat4 |
C |
A |
3: 38,944,728 (GRCm39) |
A1207D |
possibly damaging |
Het |
Flnb |
T |
C |
14: 7,926,518 (GRCm38) |
|
probably benign |
Het |
Hdac10 |
G |
T |
15: 89,008,071 (GRCm39) |
A593E |
possibly damaging |
Het |
Hdhd2 |
T |
C |
18: 77,052,969 (GRCm39) |
|
probably null |
Het |
Kcnq2 |
A |
G |
2: 180,751,582 (GRCm39) |
|
probably benign |
Het |
Kdm7a |
A |
G |
6: 39,142,064 (GRCm39) |
F405L |
probably damaging |
Het |
Lypd6b |
C |
A |
2: 49,833,642 (GRCm39) |
|
probably benign |
Het |
Mki67 |
A |
T |
7: 135,296,651 (GRCm39) |
D2794E |
possibly damaging |
Het |
Or2y3 |
G |
T |
17: 38,393,544 (GRCm39) |
S108R |
possibly damaging |
Het |
Or5p55 |
A |
T |
7: 107,566,741 (GRCm39) |
I46F |
probably damaging |
Het |
Or6d13 |
T |
A |
6: 116,517,968 (GRCm39) |
C185S |
probably damaging |
Het |
Or6x1 |
A |
T |
9: 40,099,052 (GRCm39) |
I214F |
probably benign |
Het |
Ppargc1a |
C |
A |
5: 51,631,664 (GRCm39) |
V322L |
probably benign |
Het |
Ppfibp1 |
T |
A |
6: 146,931,195 (GRCm39) |
M917K |
probably benign |
Het |
Prkg2 |
C |
T |
5: 99,117,795 (GRCm39) |
|
probably null |
Het |
Rfx4 |
A |
G |
10: 84,704,246 (GRCm39) |
E296G |
possibly damaging |
Het |
Rfx8 |
T |
A |
1: 39,722,110 (GRCm39) |
K292* |
probably null |
Het |
Scamp3 |
C |
A |
3: 89,084,973 (GRCm39) |
|
probably benign |
Het |
Scn4a |
A |
T |
11: 106,221,190 (GRCm39) |
I823N |
possibly damaging |
Het |
Sdk2 |
A |
G |
11: 113,721,668 (GRCm39) |
V1316A |
probably damaging |
Het |
Setd2 |
T |
C |
9: 110,402,741 (GRCm39) |
V1794A |
probably damaging |
Het |
Stard8 |
G |
T |
X: 98,116,694 (GRCm39) |
R983L |
probably damaging |
Het |
Tbc1d23 |
A |
T |
16: 57,013,038 (GRCm39) |
D311E |
probably benign |
Het |
Tex21 |
T |
C |
12: 76,245,592 (GRCm39) |
H568R |
probably benign |
Het |
Tex35 |
T |
C |
1: 156,932,667 (GRCm39) |
|
probably benign |
Het |
Tgs1 |
T |
A |
4: 3,591,292 (GRCm39) |
F442I |
possibly damaging |
Het |
Traf2 |
C |
A |
2: 25,414,931 (GRCm39) |
C303F |
probably benign |
Het |
Trim56 |
A |
T |
5: 137,143,354 (GRCm39) |
V54D |
possibly damaging |
Het |
Yars2 |
C |
T |
16: 16,124,406 (GRCm39) |
R338* |
probably null |
Het |
Zfp668 |
A |
T |
7: 127,465,454 (GRCm39) |
C577S |
probably damaging |
Het |
|
Other mutations in Mtmr14 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
|
Posted On |
2013-06-21 |