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) question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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