Incidental Mutation 'R0394:Mtmr14'
ID 31854
Institutional Source Beutler Lab
Gene Symbol Mtmr14
Ensembl Gene ENSMUSG00000030269
Gene Name myotubularin related protein 14
Synonyms 1110061O04Rik
MMRRC Submission 038600-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # R0394 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 113214804-113258353 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 113257649 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 233 (R233*)
Ref Sequence ENSEMBL: ENSMUSP00000118001 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041203] [ENSMUST00000113146] [ENSMUST00000129883] [ENSMUST00000130191] [ENSMUST00000134945]
AlphaFold Q8VEL2
Predicted Effect probably benign
Transcript: ENSMUST00000041203
SMART Domains Protein: ENSMUSP00000044416
Gene: ENSMUSG00000030270

DomainStartEndE-ValueType
C2 14 122 2.12e-10 SMART
C2 143 257 5.15e-9 SMART
VWA 297 495 4.4e-10 SMART
low complexity region 536 553 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000113146
AA Change: R617*
SMART Domains Protein: ENSMUSP00000108771
Gene: ENSMUSG00000030269
AA Change: R617*

DomainStartEndE-ValueType
low complexity region 2 20 N/A INTRINSIC
Blast:C2 605 647 2e-10 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124574
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128148
Predicted Effect probably benign
Transcript: ENSMUST00000129883
SMART Domains Protein: ENSMUSP00000114575
Gene: ENSMUSG00000030269

DomainStartEndE-ValueType
low complexity region 2 20 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000130191
Predicted Effect probably null
Transcript: ENSMUST00000134945
AA Change: R233*
SMART Domains Protein: ENSMUSP00000118001
Gene: ENSMUSG00000030269
AA Change: R233*

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Blast:C2 221 256 3e-10 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138388
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155779
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162239
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204050
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132372
Predicted Effect probably benign
Transcript: ENSMUST00000137772
SMART Domains Protein: ENSMUSP00000119000
Gene: ENSMUSG00000030269

DomainStartEndE-ValueType
Pfam:Myotub-related 10 231 5.7e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000151149
Predicted Effect probably benign
Transcript: ENSMUST00000148523
SMART Domains Protein: ENSMUSP00000115808
Gene: ENSMUSG00000030269

DomainStartEndE-ValueType
Pfam:Myotub-related 1 102 4.2e-8 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 92.0%
Validation Efficiency 99% (79/80)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik C A 3: 137,773,065 (GRCm39) S751R probably damaging Het
Abca8a A G 11: 109,917,169 (GRCm39) V1610A probably damaging Het
Actl10 A T 2: 154,394,957 (GRCm39) H202L probably benign Het
Alox12 A T 11: 70,136,761 (GRCm39) V489E probably damaging Het
Ap4m1 T A 5: 138,170,465 (GRCm39) F5I probably benign Het
Atn1 T C 6: 124,726,696 (GRCm39) probably benign Het
Atrnl1 T A 19: 57,661,608 (GRCm39) N529K probably benign Het
B3gntl1 C T 11: 121,510,541 (GRCm39) G336D probably damaging Het
Bmp1 G A 14: 70,727,474 (GRCm39) A703V probably damaging Het
Brat1 T G 5: 140,704,141 (GRCm39) L798R probably damaging Het
Cacna1c C T 6: 118,602,458 (GRCm39) G1302R probably damaging Het
Cdr2 A T 7: 120,557,954 (GRCm39) D190E probably benign Het
Cenpe T C 3: 134,922,186 (GRCm39) probably benign Het
Clstn1 A G 4: 149,728,635 (GRCm39) D687G probably benign Het
Coro1a A G 7: 126,299,812 (GRCm39) F337L probably benign Het
Ddx49 T A 8: 70,749,575 (GRCm39) I252F probably damaging Het
Dennd2a T A 6: 39,499,746 (GRCm39) D273V possibly damaging Het
Derl2 A T 11: 70,905,387 (GRCm39) F32I probably benign Het
Dmrta1 A G 4: 89,580,276 (GRCm39) Y412C probably damaging Het
Dsg1a A G 18: 20,466,807 (GRCm39) N559S probably damaging Het
Dusp26 G T 8: 31,581,987 (GRCm39) R27L probably benign Het
Eif2ak3 T C 6: 70,862,202 (GRCm39) I492T probably benign Het
Exoc7 G T 11: 116,191,224 (GRCm39) Q219K probably damaging Het
F2r T C 13: 95,740,984 (GRCm39) T184A probably damaging Het
Fbf1 G A 11: 116,043,288 (GRCm39) probably benign Het
Fbxo28 A G 1: 182,144,580 (GRCm39) M328T probably benign Het
Fsip2 T A 2: 82,821,419 (GRCm39) D5717E possibly damaging Het
Gnpat C A 8: 125,606,964 (GRCm39) S373R possibly damaging Het
Golgb1 G T 16: 36,695,941 (GRCm39) probably benign Het
Greb1l T C 18: 10,523,374 (GRCm39) V844A probably damaging Het
Hps1 G T 19: 42,759,338 (GRCm39) probably null Het
Inppl1 G T 7: 101,477,402 (GRCm39) probably benign Het
Isca1 C T 13: 59,906,699 (GRCm39) probably null Het
Itgb2 T A 10: 77,378,309 (GRCm39) C46S probably damaging Het
Kifc5b C T 17: 27,142,056 (GRCm39) T178M probably benign Het
Krt80 T C 15: 101,250,180 (GRCm39) T22A probably damaging Het
L3mbtl2 C T 15: 81,552,942 (GRCm39) A125V probably damaging Het
Ltbp2 C T 12: 84,853,198 (GRCm39) probably benign Het
Mettl18 A G 1: 163,823,910 (GRCm39) D77G probably benign Het
Mfsd2a A G 4: 122,843,961 (GRCm39) L336P probably benign Het
Mgat4b A G 11: 50,121,746 (GRCm39) probably null Het
Nbea T C 3: 55,937,328 (GRCm39) Y761C probably damaging Het
Neb A T 2: 52,067,571 (GRCm39) probably null Het
Nup85 T G 11: 115,455,357 (GRCm39) M1R probably null Het
Obi1 T C 14: 104,716,289 (GRCm39) R695G possibly damaging Het
Or6c70 T A 10: 129,709,811 (GRCm39) I272L probably benign Het
Oxr1 T A 15: 41,680,593 (GRCm39) M177K probably damaging Het
Pgm2l1 A G 7: 99,901,405 (GRCm39) Y98C probably damaging Het
Pi4kb G T 3: 94,904,115 (GRCm39) probably benign Het
Pi4kb G A 3: 94,904,116 (GRCm39) probably benign Het
Pirb T A 7: 3,722,247 (GRCm39) S199C probably benign Het
Prss23 A C 7: 89,159,055 (GRCm39) I338S probably damaging Het
Rapgef3 A T 15: 97,655,700 (GRCm39) probably benign Het
Rdh7 T A 10: 127,720,539 (GRCm39) T278S probably benign Het
Rrp1b A G 17: 32,277,538 (GRCm39) D606G probably benign Het
Rxfp1 T A 3: 79,559,684 (GRCm39) Y379F possibly damaging Het
Rxfp2 T C 5: 149,990,853 (GRCm39) V514A probably benign Het
Scel A T 14: 103,799,954 (GRCm39) E202V probably benign Het
Slc25a36 G A 9: 96,962,257 (GRCm39) A244V probably benign Het
Slc2a13 T G 15: 91,400,595 (GRCm39) Q209P probably damaging Het
Slc38a6 A G 12: 73,399,304 (GRCm39) N456S probably benign Het
Slc6a12 G T 6: 121,323,957 (GRCm39) probably null Het
Spag6l T C 16: 16,598,493 (GRCm39) I333V probably benign Het
Spen G A 4: 141,201,514 (GRCm39) A2371V probably benign Het
St6galnac1 T C 11: 116,657,466 (GRCm39) D366G probably damaging Het
Stk33 T C 7: 108,940,696 (GRCm39) S5G probably benign Het
Tex56 T C 13: 35,116,636 (GRCm39) probably benign Het
Tle2 T C 10: 81,413,482 (GRCm39) L84P probably damaging Het
Tmem14a T C 1: 21,296,876 (GRCm39) M78T probably damaging Het
Top2b T A 14: 16,413,556 (GRCm38) probably null Het
Trmt13 A G 3: 116,376,299 (GRCm39) F364S probably damaging Het
Unkl T A 17: 25,449,751 (GRCm39) probably null Het
Uvrag A G 7: 98,653,926 (GRCm39) probably benign Het
Vmn2r8 T A 5: 108,949,938 (GRCm39) N303I probably benign Het
Vsig10l A G 7: 43,114,879 (GRCm39) N360S probably damaging Het
Zdhhc25 T C 15: 88,485,123 (GRCm39) Y153H probably damaging Het
Zfp646 T C 7: 127,482,434 (GRCm39) V1537A possibly damaging Het
Zfp664 T A 5: 124,963,129 (GRCm39) Y174* 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
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
Predicted Primers PCR Primer
(F):5'- CTGGACCACATGCTAGATGCTGAC -3'
(R):5'- AGGTAGAAAGTCCCATCCTCAGGC -3'

Sequencing Primer
(F):5'- CATGCTAGATGCTGACTTCAAGC -3'
(R):5'- CTGCCATGTGTGCAACAGAG -3'
Posted On 2013-04-24