Incidental Mutation 'R4810:Mtmr3'
ID 371014
Institutional Source Beutler Lab
Gene Symbol Mtmr3
Ensembl Gene ENSMUSG00000034354
Gene Name myotubularin related protein 3
Synonyms FYVE-DSP1, 1700092A20Rik, ZFYVE10
MMRRC Submission 042429-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4810 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 4430868-4544863 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 4448046 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 297 (N297K)
Ref Sequence ENSEMBL: ENSMUSP00000116315 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040448] [ENSMUST00000109943] [ENSMUST00000123506] [ENSMUST00000128256] [ENSMUST00000130716]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000040448
AA Change: N298K

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000049079
Gene: ENSMUSG00000034354
AA Change: N298K

DomainStartEndE-ValueType
Pfam:Myotub-related 126 527 7.6e-149 PFAM
low complexity region 578 590 N/A INTRINSIC
low complexity region 821 832 N/A INTRINSIC
coiled coil region 1027 1058 N/A INTRINSIC
FYVE 1072 1141 3.63e-31 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109943
AA Change: N298K

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000105569
Gene: ENSMUSG00000034354
AA Change: N298K

DomainStartEndE-ValueType
Pfam:Myotub-related 126 527 7.6e-149 PFAM
low complexity region 578 590 N/A INTRINSIC
low complexity region 821 832 N/A INTRINSIC
coiled coil region 1027 1058 N/A INTRINSIC
FYVE 1072 1141 3.63e-31 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000123506
AA Change: N297K

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000122422
Gene: ENSMUSG00000034354
AA Change: N297K

DomainStartEndE-ValueType
Pfam:Myotub-related 126 524 1e-138 PFAM
low complexity region 577 589 N/A INTRINSIC
low complexity region 820 831 N/A INTRINSIC
coiled coil region 1026 1057 N/A INTRINSIC
FYVE 1108 1177 7.77e-31 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000128256
AA Change: N297K

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000116315
Gene: ENSMUSG00000034354
AA Change: N297K

DomainStartEndE-ValueType
Pfam:Myotub-related 125 526 7.7e-149 PFAM
low complexity region 577 589 N/A INTRINSIC
low complexity region 820 831 N/A INTRINSIC
coiled coil region 1026 1057 N/A INTRINSIC
FYVE 1071 1149 1.42e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000130716
AA Change: N298K

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000137687
Gene: ENSMUSG00000034354
AA Change: N298K

DomainStartEndE-ValueType
Pfam:Myotub-related 126 527 2.2e-148 PFAM
low complexity region 578 590 N/A INTRINSIC
low complexity region 821 832 N/A INTRINSIC
coiled coil region 1027 1058 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144242
Meta Mutation Damage Score 0.1214 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.1%
Validation Efficiency 99% (93/94)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the myotubularin dual specificity protein phosphatase gene family. The encoded protein is structurally similar to myotubularin but in addition contains a FYVE domain and an N-terminal PH-GRAM domain. The protein can self-associate and also form heteromers with another myotubularin related protein. The protein binds to phosphoinositide lipids through the PH-GRAM domain, and can hydrolyze phosphatidylinositol(3)-phosphate and phosphatidylinositol(3,5)-biphosphate in vitro. The encoded protein has been observed to have a perinuclear, possibly membrane-bound, distribution in cells, but it has also been found free in the cytoplasm. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in increased serum alkaline phosphatase level and, in males, impaired glucose tolerance. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T C 12: 71,236,216 (GRCm39) V1189A possibly damaging Het
A3galt2 T C 4: 128,649,356 (GRCm39) probably null Het
Abca12 T C 1: 71,342,771 (GRCm39) D903G probably benign Het
Abcc12 T C 8: 87,287,471 (GRCm39) M125V probably damaging Het
Adad1 A G 3: 37,146,183 (GRCm39) N517S probably damaging Het
Ankrd44 A G 1: 54,774,302 (GRCm39) probably benign Het
Armc7 A G 11: 115,379,787 (GRCm39) I162V probably benign Het
Art3 T A 5: 92,562,108 (GRCm39) V343D possibly damaging Het
Bcl9l A G 9: 44,419,650 (GRCm39) T1106A probably damaging Het
Ccdc141 T C 2: 76,876,099 (GRCm39) N644D possibly damaging Het
Ccdc154 T C 17: 25,382,472 (GRCm39) L98S probably damaging Het
Ccne1 A G 7: 37,799,018 (GRCm39) W237R probably damaging Het
Cd33 T C 7: 43,182,134 (GRCm39) I104V probably damaging Het
Ceacam1 A T 7: 25,173,945 (GRCm39) *237K probably null Het
Ces1e T A 8: 93,935,259 (GRCm39) I398F probably benign Het
Cfap44 T C 16: 44,271,898 (GRCm39) I1217T probably damaging Het
Clns1a T C 7: 97,363,224 (GRCm39) S199P probably benign Het
Cntn4 C A 6: 106,632,572 (GRCm39) T532K probably benign Het
Col11a2 C T 17: 34,276,086 (GRCm39) S470L probably damaging Het
Cst5 A T 2: 149,247,463 (GRCm39) R60* probably null Het
Cxcr6 A T 9: 123,639,227 (GRCm39) D83V probably damaging Het
Dis3l2 T C 1: 86,975,296 (GRCm39) V774A probably damaging Het
Dusp15 A G 2: 152,787,374 (GRCm39) L79P probably damaging Het
Elapor1 T A 3: 108,377,327 (GRCm39) probably benign Het
Eml6 A T 11: 29,705,011 (GRCm39) V1511E possibly damaging Het
Epha5 C T 5: 84,253,750 (GRCm39) D548N possibly damaging Het
Fam227b A G 2: 125,829,859 (GRCm39) F450L probably benign Het
Fam91a1 T A 15: 58,306,589 (GRCm39) L452Q probably damaging Het
Fbxo44 T C 4: 148,240,903 (GRCm39) Y199C probably damaging Het
Fgd3 A G 13: 49,443,126 (GRCm39) S149P probably benign Het
Gabra4 T C 5: 71,781,325 (GRCm39) E362G probably damaging Het
Galnt14 T C 17: 73,819,116 (GRCm39) I325V probably damaging Het
Gas2l3 CACTCGTCATACT CACT 10: 89,266,820 (GRCm39) probably benign Het
Gm10088 G T 16: 18,847,081 (GRCm39) noncoding transcript Het
Grik5 T C 7: 24,714,922 (GRCm39) N691D probably damaging Het
Grm1 C G 10: 10,658,438 (GRCm39) D351H probably damaging Het
Grm8 T C 6: 27,761,295 (GRCm39) S310G possibly damaging Het
Gtf2h2 A G 13: 100,617,510 (GRCm39) probably null Het
Hhex G T 19: 37,428,103 (GRCm39) L49F probably damaging Het
Hkdc1 T A 10: 62,247,304 (GRCm39) R159S probably benign Het
Iqcm A G 8: 76,615,281 (GRCm39) Y454C probably damaging Het
Kcnh8 G A 17: 53,212,248 (GRCm39) probably null Het
Larp4b A G 13: 9,208,627 (GRCm39) T427A probably benign Het
Nek8 G A 11: 78,058,629 (GRCm39) T557I probably benign Het
Nlrp9c A C 7: 26,077,602 (GRCm39) probably null Het
Nmrk1 T A 19: 18,617,273 (GRCm39) D48E probably benign Het
Npepps G A 11: 97,131,759 (GRCm39) T365I probably damaging Het
Obscn G A 11: 58,922,417 (GRCm39) T5921M possibly damaging Het
Or8b44 C A 9: 38,410,620 (GRCm39) Y218* probably null Het
Or8c9 A G 9: 38,241,690 (GRCm39) E269G probably benign Het
Otud7b C T 3: 96,043,918 (GRCm39) A23V probably damaging Het
Pcdhga9 G A 18: 37,871,601 (GRCm39) A477T possibly damaging Het
Plekha7 A T 7: 115,744,173 (GRCm39) I663N probably damaging Het
Plscr1l1 A G 9: 92,236,683 (GRCm39) D190G probably damaging Het
Polk A T 13: 96,620,003 (GRCm39) S732R possibly damaging Het
Ppfia2 A G 10: 106,751,551 (GRCm39) I1166V probably benign Het
Ppp2r5a C T 1: 191,088,589 (GRCm39) probably benign Het
Prkaa2 T C 4: 104,897,011 (GRCm39) K401E probably damaging Het
Ptpn23 A G 9: 110,218,204 (GRCm39) Y611H possibly damaging Het
Rab31 C T 17: 66,028,998 (GRCm39) probably null Het
Rad51ap2 T A 12: 11,507,406 (GRCm39) C443S probably damaging Het
Ralgapa1 A G 12: 55,841,778 (GRCm39) probably null Het
Rev3l T C 10: 39,699,721 (GRCm39) L1406P probably benign Het
Rnaset2b T A 17: 7,259,167 (GRCm39) D48E probably benign Het
Rnf13 G T 3: 57,703,693 (GRCm39) M105I probably damaging Het
Rnf150 T C 8: 83,716,991 (GRCm39) V166A possibly damaging Het
Rps6kc1 C A 1: 190,541,160 (GRCm39) R381L probably damaging Het
Rspo2 C T 15: 43,033,216 (GRCm39) R2H probably benign Het
Septin8 A G 11: 53,425,416 (GRCm39) D103G probably damaging Het
Sirt4 A G 5: 115,618,508 (GRCm39) W189R probably damaging Het
Slco6d1 T C 1: 98,350,979 (GRCm39) V110A possibly damaging Het
Sncaip C A 18: 53,040,271 (GRCm39) Q822K possibly damaging Het
Spg11 A C 2: 121,890,277 (GRCm39) F2070V probably damaging Het
Sptb A T 12: 76,669,971 (GRCm39) Y452* probably null Het
Srsf4 C T 4: 131,627,413 (GRCm39) probably benign Het
Tead1 C A 7: 112,441,073 (GRCm39) probably null Het
Tmem156 G T 5: 65,248,790 (GRCm39) probably benign Het
Tmem169 A G 1: 72,337,311 (GRCm39) D82G probably benign Het
Tmem260 A G 14: 48,709,930 (GRCm39) E51G probably damaging Het
Trim36 G T 18: 46,305,536 (GRCm39) N470K probably benign Het
Trps1 T A 15: 50,685,692 (GRCm39) T158S probably benign Het
Ube2c A G 2: 164,614,482 (GRCm39) *180W probably null Het
Ube2i T C 17: 25,484,121 (GRCm39) D45G probably benign Het
Uggt2 A C 14: 119,250,933 (GRCm39) L1188R probably damaging Het
Uroc1 T C 6: 90,340,135 (GRCm39) I680T probably damaging Het
Vmn2r2 T A 3: 64,044,883 (GRCm39) M88L probably damaging Het
Zfp248 G A 6: 118,406,807 (GRCm39) R261C possibly damaging Het
Zfp418 G T 7: 7,185,846 (GRCm39) R603L possibly damaging Het
Zmpste24 T A 4: 120,918,251 (GRCm39) Y457F probably damaging Het
Other mutations in Mtmr3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01568:Mtmr3 APN 11 4,477,861 (GRCm39) missense probably damaging 1.00
IGL01808:Mtmr3 APN 11 4,447,404 (GRCm39) missense probably damaging 1.00
IGL01994:Mtmr3 APN 11 4,437,938 (GRCm39) missense probably benign
IGL02839:Mtmr3 APN 11 4,437,994 (GRCm39) missense probably benign 0.03
IGL02893:Mtmr3 APN 11 4,457,632 (GRCm39) missense possibly damaging 0.89
IGL03370:Mtmr3 APN 11 4,437,385 (GRCm39) missense probably damaging 1.00
capellini UTSW 11 4,447,381 (GRCm39) nonsense probably null
R0322:Mtmr3 UTSW 11 4,437,505 (GRCm39) missense possibly damaging 0.59
R0363:Mtmr3 UTSW 11 4,437,536 (GRCm39) missense probably damaging 0.99
R0655:Mtmr3 UTSW 11 4,438,610 (GRCm39) missense probably damaging 1.00
R0866:Mtmr3 UTSW 11 4,438,474 (GRCm39) missense probably benign 0.03
R1065:Mtmr3 UTSW 11 4,442,859 (GRCm39) missense probably damaging 1.00
R1417:Mtmr3 UTSW 11 4,437,923 (GRCm39) missense probably benign
R1698:Mtmr3 UTSW 11 4,442,825 (GRCm39) missense possibly damaging 0.95
R1707:Mtmr3 UTSW 11 4,454,095 (GRCm39) missense probably damaging 1.00
R2191:Mtmr3 UTSW 11 4,449,032 (GRCm39) missense probably damaging 1.00
R2192:Mtmr3 UTSW 11 4,449,032 (GRCm39) missense probably damaging 1.00
R3956:Mtmr3 UTSW 11 4,441,138 (GRCm39) missense probably damaging 1.00
R4079:Mtmr3 UTSW 11 4,441,057 (GRCm39) missense probably damaging 1.00
R4320:Mtmr3 UTSW 11 4,437,947 (GRCm39) missense probably benign 0.39
R4577:Mtmr3 UTSW 11 4,447,375 (GRCm39) missense probably damaging 1.00
R4622:Mtmr3 UTSW 11 4,441,067 (GRCm39) missense possibly damaging 0.62
R4676:Mtmr3 UTSW 11 4,477,855 (GRCm39) missense probably benign 0.12
R4726:Mtmr3 UTSW 11 4,457,634 (GRCm39) missense probably damaging 1.00
R4781:Mtmr3 UTSW 11 4,438,435 (GRCm39) missense probably benign 0.00
R4799:Mtmr3 UTSW 11 4,437,764 (GRCm39) missense probably benign 0.12
R5744:Mtmr3 UTSW 11 4,437,679 (GRCm39) missense possibly damaging 0.47
R5847:Mtmr3 UTSW 11 4,432,925 (GRCm39) missense probably damaging 1.00
R5933:Mtmr3 UTSW 11 4,448,951 (GRCm39) missense probably benign
R6102:Mtmr3 UTSW 11 4,437,673 (GRCm39) missense probably damaging 0.99
R6105:Mtmr3 UTSW 11 4,435,432 (GRCm39) missense probably damaging 0.99
R6254:Mtmr3 UTSW 11 4,447,381 (GRCm39) nonsense probably null
R6443:Mtmr3 UTSW 11 4,437,358 (GRCm39) missense probably damaging 0.99
R6881:Mtmr3 UTSW 11 4,439,725 (GRCm39) missense probably benign 0.33
R6941:Mtmr3 UTSW 11 4,437,505 (GRCm39) missense possibly damaging 0.59
R6986:Mtmr3 UTSW 11 4,439,692 (GRCm39) missense probably damaging 1.00
R7045:Mtmr3 UTSW 11 4,448,896 (GRCm39) missense possibly damaging 0.94
R8469:Mtmr3 UTSW 11 4,481,223 (GRCm39) start codon destroyed probably null 0.95
R9169:Mtmr3 UTSW 11 4,437,739 (GRCm39) missense probably benign 0.00
R9452:Mtmr3 UTSW 11 4,441,037 (GRCm39) missense probably damaging 1.00
R9520:Mtmr3 UTSW 11 4,441,131 (GRCm39) missense probably damaging 1.00
R9564:Mtmr3 UTSW 11 4,440,992 (GRCm39) missense possibly damaging 0.96
R9667:Mtmr3 UTSW 11 4,470,890 (GRCm39) missense probably damaging 1.00
T0975:Mtmr3 UTSW 11 4,438,441 (GRCm39) missense probably benign
Z1176:Mtmr3 UTSW 11 4,435,913 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGAACGCGCTTTGCCATTTAC -3'
(R):5'- TTTCAAGAGGCAGAGGGTACAC -3'

Sequencing Primer
(F):5'- CCATTTACTTTAACTGAAGCCTAGGC -3'
(R):5'- TACACTGAAGGCAAGAACCAGGTC -3'
Posted On 2016-02-04