Incidental Mutation 'R1417:Mtmr3'
ID 159861
Institutional Source Beutler Lab
Gene Symbol Mtmr3
Ensembl Gene ENSMUSG00000034354
Gene Name myotubularin related protein 3
Synonyms FYVE-DSP1, 1700092A20Rik, ZFYVE10
MMRRC Submission 039473-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1417 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 4430868-4544863 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 4437923 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 844 (V844L)
Ref Sequence ENSEMBL: ENSMUSP00000137687 (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: V844L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000049079
Gene: ENSMUSG00000034354
AA Change: V844L

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: V844L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000105569
Gene: ENSMUSG00000034354
AA Change: V844L

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: V843L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000122422
Gene: ENSMUSG00000034354
AA Change: V843L

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: V843L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000116315
Gene: ENSMUSG00000034354
AA Change: V843L

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: V844L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000137687
Gene: ENSMUSG00000034354
AA Change: V844L

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155566
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.8%
  • 20x: 87.8%
Validation Efficiency
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp13a5 A G 16: 29,117,053 (GRCm39) V565A probably benign Het
Atp6v1b1 T C 6: 83,730,862 (GRCm39) S196P probably damaging Het
Car9 G T 4: 43,512,439 (GRCm39) probably null Het
Ces1a C T 8: 93,749,044 (GRCm39) D456N probably benign Het
Clu T A 14: 66,212,420 (GRCm39) Y124* probably null Het
Cnnm1 A G 19: 43,458,162 (GRCm39) E658G probably benign Het
Dnah9 T C 11: 65,846,573 (GRCm39) E2913G probably damaging Het
Edc4 G A 8: 106,614,487 (GRCm39) probably null Het
Enox1 C T 14: 77,723,445 (GRCm39) probably benign Het
G6pc2 T C 2: 69,053,312 (GRCm39) V122A probably damaging Het
Galns T C 8: 123,311,652 (GRCm39) S453G possibly damaging Het
Gm12185 A C 11: 48,798,669 (GRCm39) V608G probably damaging Het
Hbq1a A G 11: 32,250,722 (GRCm39) D135G probably benign Het
Hspg2 A G 4: 137,244,947 (GRCm39) T891A probably benign Het
Ift172 T C 5: 31,413,993 (GRCm39) Y1445C probably damaging Het
Ipo8 C T 6: 148,719,550 (GRCm39) D132N probably benign Het
Klhl11 T C 11: 100,363,115 (GRCm39) E147G probably benign Het
Kmt2d A T 15: 98,764,311 (GRCm39) V41D probably damaging Het
Lrp1b T C 2: 40,894,653 (GRCm39) I2306V probably benign Het
Lrp5 A G 19: 3,636,425 (GRCm39) V1514A probably benign Het
Lrrtm2 A T 18: 35,347,011 (GRCm39) I97N probably damaging Het
Myh8 A G 11: 67,197,011 (GRCm39) E1832G probably damaging Het
Or4n5 T A 14: 50,133,020 (GRCm39) R80* probably null Het
Pcdhb16 A G 18: 37,611,180 (GRCm39) T47A probably benign Het
Pfkp T C 13: 6,655,755 (GRCm39) K293E probably benign Het
Phlpp2 G T 8: 110,667,313 (GRCm39) E1281* probably null Het
Prss23 T A 7: 89,159,392 (GRCm39) T226S probably damaging Het
Slc8a1 T G 17: 81,715,709 (GRCm39) M775L probably damaging Het
Stx12 A G 4: 132,587,853 (GRCm39) probably null Het
Syt11 A T 3: 88,669,289 (GRCm39) I201N probably damaging Het
Ttc21a A G 9: 119,783,327 (GRCm39) N543S probably damaging Het
Usf3 A G 16: 44,037,812 (GRCm39) N764S probably benign Het
Xylb A G 9: 119,193,606 (GRCm39) D100G probably benign Het
Zfp423 T C 8: 88,500,284 (GRCm39) probably null Het
Zkscan16 T C 4: 58,952,377 (GRCm39) V225A probably benign 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
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
R4810:Mtmr3 UTSW 11 4,448,046 (GRCm39) missense probably benign 0.33
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'- AAGTCCTGTGTAGCACAGAGTCCC -3'
(R):5'- TTTAAGAAGCCATCAAGGCCCCAG -3'

Sequencing Primer
(F):5'- TAGCACAGAGTCCCACTGG -3'
(R):5'- AGGATGGGCACAATGTCCTC -3'
Posted On 2014-03-14