Incidental Mutation 'R5209:Mtmr14'
| ID |
403035 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtmr14
|
| Ensembl Gene |
ENSMUSG00000030269 |
| Gene Name |
myotubularin related protein 14 |
| Synonyms |
1110061O04Rik |
| MMRRC Submission |
042784-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
R5209 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
113214804-113258353 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 113230736 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 113
(Y113*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116918
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113146]
[ENSMUST00000129883]
[ENSMUST00000142938]
[ENSMUST00000156141]
[ENSMUST00000203385]
|
| AlphaFold |
Q8VEL2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000113146
AA Change: Y153*
|
| SMART Domains |
Protein: ENSMUSP00000108771
Gene: ENSMUSG00000030269
AA Change: Y153*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
20 |
N/A |
INTRINSIC |
|
Blast:C2
|
605 |
647 |
2e-10 |
BLAST |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000129883
AA Change: Y153*
|
| SMART Domains |
Protein: ENSMUSP00000114575
Gene: ENSMUSG00000030269
AA Change: Y153*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
20 |
N/A |
INTRINSIC |
|
| 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 null
Transcript: ENSMUST00000156141
AA Change: Y113*
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203385
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
100% (57/57) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
T |
C |
7: 119,832,130 (GRCm39) |
V500A |
probably benign |
Het |
| Abcg4 |
A |
G |
9: 44,186,672 (GRCm39) |
Y491H |
probably damaging |
Het |
| Adgb |
C |
A |
10: 10,274,681 (GRCm39) |
V759L |
possibly damaging |
Het |
| Adprhl1 |
T |
A |
8: 13,292,563 (GRCm39) |
K243* |
probably null |
Het |
| Arhgap24 |
T |
A |
5: 103,040,015 (GRCm39) |
D317E |
probably benign |
Het |
| Arhgef5 |
A |
T |
6: 43,250,634 (GRCm39) |
I462F |
probably benign |
Het |
| Birc6 |
A |
C |
17: 74,977,369 (GRCm39) |
N4388T |
probably damaging |
Het |
| Btbd18 |
A |
G |
2: 84,498,443 (GRCm39) |
T694A |
possibly damaging |
Het |
| Ces1d |
A |
T |
8: 93,901,816 (GRCm39) |
|
probably benign |
Het |
| Chmp2a |
C |
A |
7: 12,766,601 (GRCm39) |
V106F |
probably damaging |
Het |
| Cinp |
T |
C |
12: 110,840,494 (GRCm39) |
E219G |
probably benign |
Het |
| Col5a3 |
C |
T |
9: 20,689,939 (GRCm39) |
|
probably benign |
Het |
| Dnhd1 |
T |
G |
7: 105,345,667 (GRCm39) |
S2271A |
probably benign |
Het |
| Epg5 |
T |
A |
18: 77,994,497 (GRCm39) |
L376H |
probably damaging |
Het |
| Fam81a |
T |
C |
9: 70,032,442 (GRCm39) |
T17A |
probably benign |
Het |
| Fgd2 |
T |
A |
17: 29,587,350 (GRCm39) |
|
probably null |
Het |
| Gjc3 |
C |
T |
5: 137,955,533 (GRCm39) |
V251I |
probably benign |
Het |
| Gnaz |
T |
G |
10: 74,827,823 (GRCm39) |
F192V |
probably benign |
Het |
| Hmgcr |
T |
C |
13: 96,803,020 (GRCm39) |
|
probably benign |
Het |
| Mamdc4 |
G |
T |
2: 25,456,935 (GRCm39) |
A614E |
probably damaging |
Het |
| Mapk8ip2 |
A |
T |
15: 89,343,490 (GRCm39) |
Q713L |
probably damaging |
Het |
| Mettl1 |
T |
C |
10: 126,881,203 (GRCm39) |
V238A |
possibly damaging |
Het |
| Ms4a4c |
G |
A |
19: 11,393,802 (GRCm39) |
G74E |
probably damaging |
Het |
| Msh3 |
A |
G |
13: 92,481,462 (GRCm39) |
|
probably null |
Het |
| Mylk |
T |
C |
16: 34,742,995 (GRCm39) |
L1169P |
possibly damaging |
Het |
| Npr3 |
A |
G |
15: 11,848,689 (GRCm39) |
V426A |
possibly damaging |
Het |
| Or12d15 |
T |
C |
17: 37,693,721 (GRCm39) |
S88P |
probably damaging |
Het |
| Or5au1 |
T |
C |
14: 52,273,410 (GRCm39) |
T53A |
probably benign |
Het |
| Or6c202 |
A |
C |
10: 128,996,801 (GRCm39) |
D17E |
possibly damaging |
Het |
| Or8b1c |
T |
A |
9: 38,384,817 (GRCm39) |
M258K |
possibly damaging |
Het |
| Pcdhb17 |
T |
C |
18: 37,620,514 (GRCm39) |
F768S |
probably damaging |
Het |
| Piezo2 |
T |
C |
18: 63,166,000 (GRCm39) |
N2077S |
probably damaging |
Het |
| Pkd1l2 |
G |
A |
8: 117,783,181 (GRCm39) |
P713L |
probably benign |
Het |
| Primpol |
T |
C |
8: 47,043,295 (GRCm39) |
T333A |
probably benign |
Het |
| Pth2r |
A |
T |
1: 65,427,856 (GRCm39) |
T510S |
probably benign |
Het |
| Ptprr |
A |
T |
10: 115,998,514 (GRCm39) |
E208V |
probably damaging |
Het |
| Rag1 |
T |
C |
2: 101,474,560 (GRCm39) |
Y194C |
probably benign |
Het |
| Reep5 |
A |
T |
18: 34,490,293 (GRCm39) |
|
probably null |
Het |
| Rexo5 |
T |
A |
7: 119,433,522 (GRCm39) |
Y493* |
probably null |
Het |
| Rgs9 |
T |
C |
11: 109,130,420 (GRCm39) |
|
probably null |
Het |
| Rps6ka1 |
A |
T |
4: 133,593,129 (GRCm39) |
V218D |
probably damaging |
Het |
| Satb1 |
A |
T |
17: 52,116,235 (GRCm39) |
M16K |
probably benign |
Het |
| Slc45a2 |
C |
T |
15: 11,027,871 (GRCm39) |
T480I |
probably damaging |
Het |
| Slfn14 |
A |
G |
11: 83,170,459 (GRCm39) |
F395S |
possibly damaging |
Het |
| Spata31h1 |
T |
C |
10: 82,119,652 (GRCm39) |
T4453A |
possibly damaging |
Het |
| Sptbn5 |
T |
A |
2: 119,902,483 (GRCm39) |
I82F |
probably benign |
Het |
| Stam |
T |
A |
2: 14,151,158 (GRCm39) |
I505K |
probably benign |
Het |
| Tesk2 |
G |
A |
4: 116,581,895 (GRCm39) |
|
probably benign |
Het |
| Trappc12 |
T |
C |
12: 28,787,793 (GRCm39) |
K430R |
probably benign |
Het |
| Trmo |
T |
C |
4: 46,387,740 (GRCm39) |
N34D |
probably damaging |
Het |
| Ubr2 |
C |
A |
17: 47,279,350 (GRCm39) |
C686F |
probably damaging |
Het |
| Vdac1 |
C |
T |
11: 52,267,279 (GRCm39) |
T60I |
probably damaging |
Het |
| Zfp652 |
G |
C |
11: 95,654,491 (GRCm39) |
R478P |
possibly 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 |
|
|
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 |
|
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'- GCTGCCTTGAATTTAGGGTGAC -3'
(R):5'- CTCGGAAGCGAATCCCTAGTTC -3'
Sequencing Primer
(F):5'- CCCCTTTGGTAGAGTCTGTAGAC -3'
(R):5'- GAATCCCTAGTTCCTGCTCTGGG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation