Incidental Mutation 'R5509:Mtmr14'
| ID |
431073 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtmr14
|
| Ensembl Gene |
ENSMUSG00000030269 |
| Gene Name |
myotubularin related protein 14 |
| Synonyms |
1110061O04Rik |
| MMRRC Submission |
043070-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.101)
|
| Stock # |
R5509 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
113214804-113258353 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to T
at 113230768 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116918
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113146]
[ENSMUST00000129883]
[ENSMUST00000142938]
[ENSMUST00000156141]
[ENSMUST00000156141]
[ENSMUST00000203385]
|
| AlphaFold |
Q8VEL2 |
| Predicted Effect |
probably null
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: 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
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000156141
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203385
|
| Coding Region Coverage |
- 1x: 98.6%
- 3x: 97.4%
- 10x: 95.5%
- 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. 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
G |
C |
17: 46,635,185 (GRCm39) |
Q273E |
probably benign |
Het |
| Acly |
C |
T |
11: 100,405,805 (GRCm39) |
R329Q |
probably damaging |
Het |
| Acsm2 |
T |
C |
7: 119,172,840 (GRCm39) |
S152P |
probably damaging |
Het |
| Adamtsl4 |
A |
T |
3: 95,588,667 (GRCm39) |
I515N |
probably benign |
Het |
| Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
| Atp9a |
T |
C |
2: 168,481,857 (GRCm39) |
D879G |
probably damaging |
Het |
| Bmp8b |
G |
A |
4: 123,008,369 (GRCm39) |
D112N |
possibly damaging |
Het |
| Camk2d |
T |
C |
3: 126,633,965 (GRCm39) |
W496R |
probably damaging |
Het |
| Ccdc192 |
G |
A |
18: 57,671,156 (GRCm39) |
|
probably null |
Het |
| Cflar |
T |
C |
1: 58,791,551 (GRCm39) |
F285L |
probably benign |
Het |
| Cox16 |
T |
C |
12: 81,519,032 (GRCm39) |
T176A |
probably benign |
Het |
| Cux1 |
G |
T |
5: 136,304,171 (GRCm39) |
A1214D |
probably benign |
Het |
| Cyb5d1 |
C |
A |
11: 69,284,561 (GRCm39) |
|
probably null |
Het |
| Dennd6b |
G |
A |
15: 89,069,225 (GRCm39) |
P575S |
probably damaging |
Het |
| Fbxl2 |
A |
T |
9: 113,814,415 (GRCm39) |
|
probably null |
Het |
| Gfpt2 |
T |
C |
11: 49,717,973 (GRCm39) |
F483L |
possibly damaging |
Het |
| Glrx3 |
T |
C |
7: 137,046,751 (GRCm39) |
C48R |
probably damaging |
Het |
| Invs |
G |
A |
4: 48,396,337 (GRCm39) |
V281M |
probably damaging |
Het |
| Kif13a |
G |
A |
13: 46,905,591 (GRCm39) |
A784V |
probably benign |
Het |
| Kmt2d |
T |
C |
15: 98,737,557 (GRCm39) |
|
probably benign |
Het |
| Lmod2 |
A |
G |
6: 24,603,888 (GRCm39) |
T288A |
probably damaging |
Het |
| Lrrc37a |
T |
C |
11: 103,391,361 (GRCm39) |
K1355E |
probably benign |
Het |
| Magi3 |
A |
T |
3: 103,922,818 (GRCm39) |
S1300T |
probably benign |
Het |
| Mdm2 |
A |
C |
10: 117,526,517 (GRCm39) |
D307E |
probably damaging |
Het |
| Mllt6 |
G |
A |
11: 97,560,326 (GRCm39) |
S210N |
possibly damaging |
Het |
| Mroh4 |
T |
C |
15: 74,478,003 (GRCm39) |
Y901C |
probably benign |
Het |
| Mug2 |
A |
T |
6: 122,061,340 (GRCm39) |
Q1420L |
possibly damaging |
Het |
| Net1 |
T |
C |
13: 3,934,320 (GRCm39) |
Q459R |
probably benign |
Het |
| Nle1 |
T |
C |
11: 82,794,008 (GRCm39) |
R343G |
possibly damaging |
Het |
| Npat |
C |
A |
9: 53,481,542 (GRCm39) |
N1083K |
probably benign |
Het |
| Nrp1 |
G |
A |
8: 129,152,396 (GRCm39) |
G202R |
possibly damaging |
Het |
| Nsun4 |
C |
T |
4: 115,908,974 (GRCm39) |
V529I |
possibly damaging |
Het |
| Or4b1d |
T |
A |
2: 89,969,236 (GRCm39) |
L82F |
probably damaging |
Het |
| Or4z4 |
T |
A |
19: 12,076,341 (GRCm39) |
I221F |
possibly damaging |
Het |
| Or5b117 |
A |
T |
19: 13,431,332 (GRCm39) |
L183Q |
probably damaging |
Het |
| Or8g21 |
T |
C |
9: 38,905,924 (GRCm39) |
D269G |
probably benign |
Het |
| Podxl |
A |
T |
6: 31,503,548 (GRCm39) |
N264K |
probably benign |
Het |
| Ptprm |
C |
T |
17: 66,996,353 (GRCm39) |
A1245T |
probably damaging |
Het |
| Rdh12 |
T |
A |
12: 79,257,558 (GRCm39) |
|
probably null |
Het |
| Ryr2 |
T |
A |
13: 11,760,487 (GRCm39) |
Y1532F |
probably damaging |
Het |
| Senp2 |
T |
C |
16: 21,859,272 (GRCm39) |
F441S |
probably damaging |
Het |
| Snap23 |
C |
A |
2: 120,425,346 (GRCm39) |
P111T |
probably benign |
Het |
| Sox2 |
A |
G |
3: 34,704,938 (GRCm39) |
D125G |
probably damaging |
Het |
| Syne2 |
T |
C |
12: 75,968,018 (GRCm39) |
W923R |
probably damaging |
Het |
| Tbc1d2b |
T |
C |
9: 90,101,022 (GRCm39) |
E656G |
probably damaging |
Het |
| Tbcd |
A |
G |
11: 121,492,838 (GRCm39) |
T892A |
probably benign |
Het |
| Tg |
A |
G |
15: 66,699,142 (GRCm39) |
I24V |
probably benign |
Het |
| Trpm3 |
A |
T |
19: 22,964,622 (GRCm39) |
K1372N |
probably damaging |
Het |
| Ubc |
A |
T |
5: 125,464,339 (GRCm39) |
N329K |
probably benign |
Het |
| Vmn2r106 |
T |
A |
17: 20,498,684 (GRCm39) |
H409L |
probably damaging |
Het |
| Wdfy3 |
T |
A |
5: 102,009,314 (GRCm39) |
N2751Y |
possibly damaging |
Het |
| Zfp518a |
T |
A |
19: 40,903,845 (GRCm39) |
I1258K |
possibly damaging |
Het |
| Zfp91 |
T |
C |
19: 12,756,451 (GRCm39) |
E131G |
probably damaging |
Het |
| Zfyve26 |
T |
A |
12: 79,293,295 (GRCm39) |
R2027W |
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 |
|
|
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 |
|
|
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'- TTCTAAGCAGACTTGAGACTGAC -3'
(R):5'- CAAGTCTCCATTAGGGCCAC -3'
Sequencing Primer
(F):5'- CAGACTTGAGACTGACTGGGGTG -3'
(R):5'- ACGCCCACCTGTGTGTG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation