Incidental Mutation 'IGL02508:Mtmr14'
ID 296465
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) question?
Stock # IGL02508
Quality Score
Status
Chromosome 6
Chromosomal Location 113214804-113258353 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 113217267 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 60 (C60S)
Ref Sequence ENSEMBL: ENSMUSP00000121136 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113146] [ENSMUST00000129883] [ENSMUST00000142938] [ENSMUST00000156141]
AlphaFold Q8VEL2
Predicted Effect probably damaging
Transcript: ENSMUST00000113146
AA Change: C60S

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000108771
Gene: ENSMUSG00000030269
AA Change: C60S

DomainStartEndE-ValueType
low complexity region 2 20 N/A INTRINSIC
Blast:C2 605 647 2e-10 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000129883
AA Change: C60S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114575
Gene: ENSMUSG00000030269
AA Change: C60S

DomainStartEndE-ValueType
low complexity region 2 20 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000142938
AA Change: C60S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000121136
Gene: ENSMUSG00000030269
AA Change: C60S

DomainStartEndE-ValueType
low complexity region 2 20 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000156141
AA Change: C20S

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700061I17Rik T A 3: 116,870,764 (GRCm39) noncoding transcript Het
Adgrv1 A T 13: 81,583,675 (GRCm39) probably benign Het
AI429214 T G 8: 37,461,240 (GRCm39) D129E probably benign Het
Alx1 G A 10: 102,858,054 (GRCm39) T215M probably damaging Het
Arhgap39 A G 15: 76,609,184 (GRCm39) *1079Q probably null Het
Brca2 T C 5: 150,466,773 (GRCm39) V2179A possibly damaging Het
Cdcp3 A G 7: 130,824,559 (GRCm39) E91G probably damaging Het
Celsr1 G A 15: 85,914,818 (GRCm39) Q1052* probably null Het
Chd5 A G 4: 152,447,481 (GRCm39) E510G probably damaging Het
Cntnap2 A G 6: 46,211,254 (GRCm39) D556G probably damaging Het
Cux2 G A 5: 121,998,885 (GRCm39) P1352S possibly damaging Het
Cyp4a31 A T 4: 115,428,261 (GRCm39) Y319F probably damaging Het
Dcaf12 C T 4: 41,296,310 (GRCm39) probably null Het
Dcc C A 18: 71,503,773 (GRCm39) A942S probably benign Het
Dyrk1a A T 16: 94,486,042 (GRCm39) D463V probably damaging Het
Eln T A 5: 134,733,422 (GRCm39) probably benign Het
Fbxl13 A G 5: 21,761,803 (GRCm39) probably null Het
Fndc3b T C 3: 27,512,900 (GRCm39) Y742C probably damaging Het
Furin G A 7: 80,042,269 (GRCm39) T442I probably benign Het
Gli1 T C 10: 127,172,961 (GRCm39) Q155R probably benign Het
Glra3 A G 8: 56,538,179 (GRCm39) E218G probably benign Het
Grb10 C T 11: 11,896,767 (GRCm39) V236M probably damaging Het
Grhl2 T C 15: 37,310,009 (GRCm39) probably benign Het
Hgfac A T 5: 35,204,564 (GRCm39) M579L probably damaging Het
Ifi202b A T 1: 173,802,338 (GRCm39) D165E probably benign Het
Klhl26 A T 8: 70,905,381 (GRCm39) D95E probably damaging Het
Klk12 T C 7: 43,419,113 (GRCm39) V26A probably benign Het
Lrp2 C T 2: 69,333,774 (GRCm39) G1489D probably benign Het
Lrrtm1 A T 6: 77,221,574 (GRCm39) S344C probably damaging Het
Lzts1 G A 8: 69,593,500 (GRCm39) R36* probably null Het
Mapkap1 T C 2: 34,408,681 (GRCm39) probably benign Het
Meis3 T A 7: 15,912,722 (GRCm39) probably null Het
Nfkb1 T A 3: 135,296,579 (GRCm39) Y789F probably damaging Het
Nup54 G A 5: 92,565,398 (GRCm39) Q440* probably null Het
Ogdhl T G 14: 32,067,131 (GRCm39) M861R probably damaging Het
Or13c7b T C 4: 43,821,289 (GRCm39) E24G possibly damaging Het
Or4d10 G T 19: 12,051,251 (GRCm39) H248Q possibly damaging Het
Or4k42 C T 2: 111,320,180 (GRCm39) A108T probably damaging Het
Or52w1 A T 7: 105,017,743 (GRCm39) H61L possibly damaging Het
Or6c69b A G 10: 129,626,660 (GRCm39) V266A probably benign Het
Pde6c A G 19: 38,145,948 (GRCm39) K412R probably benign Het
Pex5l T C 3: 33,047,051 (GRCm39) probably benign Het
Pigr A T 1: 130,778,595 (GRCm39) I760L probably benign Het
Pramel28 T C 4: 143,691,590 (GRCm39) N378D probably benign Het
Prr14l G A 5: 32,988,286 (GRCm39) A403V probably benign Het
Prrt3 T C 6: 113,471,268 (GRCm39) D968G probably damaging Het
Psmc5 T C 11: 106,153,869 (GRCm39) I401T possibly damaging Het
Ralyl T A 3: 14,172,332 (GRCm39) probably benign Het
Samd9l T C 6: 3,374,798 (GRCm39) E821G probably damaging Het
Serpinb3a T A 1: 106,973,802 (GRCm39) I370F probably damaging Het
Setd1a A G 7: 127,396,870 (GRCm39) probably benign Het
Slco2a1 T A 9: 102,951,615 (GRCm39) F381L probably benign Het
Strada A G 11: 106,059,182 (GRCm39) Y199H probably benign Het
Stxbp2 T C 8: 3,682,531 (GRCm39) I40T probably damaging Het
Tbx3 T C 5: 119,816,877 (GRCm39) V358A possibly damaging Het
Tenm3 A G 8: 48,752,674 (GRCm39) L896S probably benign Het
Tmem132a A G 19: 10,835,882 (GRCm39) S883P probably damaging Het
Trio A G 15: 27,818,190 (GRCm39) I496T possibly damaging Het
Unc79 C T 12: 103,078,535 (GRCm39) R1548W probably damaging Het
Unc79 T C 12: 103,078,277 (GRCm39) probably benign Het
Vmn2r9 T C 5: 108,996,067 (GRCm39) M194V possibly damaging 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
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 2015-04-16