Incidental Mutation 'IGL01994:Mtmr3'
ID 183600
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mtmr3
Ensembl Gene ENSMUSG00000034354
Gene Name myotubularin related protein 3
Synonyms FYVE-DSP1, 1700092A20Rik, ZFYVE10
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01994
Quality Score
Status
Chromosome 11
Chromosomal Location 4430868-4544863 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 4437938 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Asparagine at position 839 (H839N)
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: H839N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000049079
Gene: ENSMUSG00000034354
AA Change: H839N

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: H839N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000105569
Gene: ENSMUSG00000034354
AA Change: H839N

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: H838N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000122422
Gene: ENSMUSG00000034354
AA Change: H838N

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: H838N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000116315
Gene: ENSMUSG00000034354
AA Change: H838N

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: H839N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000137687
Gene: ENSMUSG00000034354
AA Change: H839N

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
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn2 A T 13: 12,305,563 (GRCm39) Y418N probably benign Het
Adam15 T C 3: 89,248,812 (GRCm39) probably benign Het
Adam32 C A 8: 25,392,812 (GRCm39) probably benign Het
Adamts12 T A 15: 11,345,680 (GRCm39) C1574S probably damaging Het
Adck1 T C 12: 88,397,926 (GRCm39) S187P possibly damaging Het
Atp13a3 A G 16: 30,156,336 (GRCm39) V949A possibly damaging Het
Atxn3 T C 12: 101,908,439 (GRCm39) T138A probably benign Het
Atxn7l2 C T 3: 108,110,859 (GRCm39) R559Q probably damaging Het
Bicra G T 7: 15,706,741 (GRCm39) S1233R possibly damaging Het
Cacybp G T 1: 160,034,206 (GRCm39) N101K probably damaging Het
Cops7b T C 1: 86,528,828 (GRCm39) L185P probably damaging Het
Cttnbp2 T C 6: 18,420,814 (GRCm39) D899G possibly damaging Het
Cyp4f37 C T 17: 32,844,150 (GRCm39) R85* probably null Het
Dnah3 T G 7: 119,550,437 (GRCm39) N3294T possibly damaging Het
Elmo1 T A 13: 20,526,634 (GRCm39) Y395N probably damaging Het
Fam234b T A 6: 135,202,203 (GRCm39) Y308* probably null Het
Fam43a A G 16: 30,419,481 (GRCm39) K22E probably damaging Het
Fcer2a T C 8: 3,738,302 (GRCm39) N123D possibly damaging Het
Gm11595 A G 11: 99,663,027 (GRCm39) C218R unknown Het
Gria4 T C 9: 4,537,726 (GRCm39) Y194C probably damaging Het
Grin2d T C 7: 45,507,396 (GRCm39) E435G probably damaging Het
Hectd1 T C 12: 51,844,725 (GRCm39) E506G probably damaging Het
Htt G A 5: 34,989,948 (GRCm39) S1160N possibly damaging Het
Ift140 A G 17: 25,267,417 (GRCm39) E605G probably damaging Het
Il17re T C 6: 113,445,411 (GRCm39) V374A probably benign Het
Ippk A G 13: 49,612,093 (GRCm39) Q439R possibly damaging Het
Itgam G A 7: 127,700,899 (GRCm39) V530M probably damaging Het
Kirrel3 A G 9: 34,931,429 (GRCm39) H47R possibly damaging Het
Klk1b24 A T 7: 43,841,057 (GRCm39) I162F probably damaging Het
Lama1 A T 17: 68,059,434 (GRCm39) T606S probably benign Het
Lama2 C T 10: 27,343,199 (GRCm39) probably null Het
Lrp2 A G 2: 69,313,945 (GRCm39) I2262T probably benign Het
Mamdc4 A T 2: 25,458,546 (GRCm39) I317N possibly damaging Het
Ncr1 G T 7: 4,344,253 (GRCm39) V177F probably benign Het
Nop58 T C 1: 59,743,242 (GRCm39) S219P probably damaging Het
Nrg3 T C 14: 38,734,043 (GRCm39) Y281C probably damaging Het
Nsf A G 11: 103,819,608 (GRCm39) S54P probably damaging Het
Or56b6 A T 7: 104,925,153 (GRCm39) noncoding transcript Het
Or6k8-ps1 T A 1: 173,979,102 (GRCm39) S7T probably benign Het
Plxnc1 T C 10: 94,685,801 (GRCm39) K730R probably damaging Het
Polr2g A T 19: 8,771,740 (GRCm39) probably benign Het
Rps13 A G 7: 115,932,925 (GRCm39) probably benign Het
Scgb2b7 A G 7: 31,403,409 (GRCm39) I99T probably benign Het
Slc22a27 G T 19: 7,887,108 (GRCm39) H260Q possibly damaging Het
Spata18 G T 5: 73,814,944 (GRCm39) probably null Het
Tns2 A G 15: 102,019,814 (GRCm39) E560G possibly damaging Het
Trbv16 T C 6: 41,128,715 (GRCm39) probably benign Het
Ubr3 T A 2: 69,851,520 (GRCm39) I1829N probably damaging Het
Vcl C T 14: 21,053,311 (GRCm39) T442I probably damaging Het
Vmn2r102 T A 17: 19,880,731 (GRCm39) I24N probably benign Het
Vmn2r114 T C 17: 23,529,451 (GRCm39) D217G probably damaging Het
Vmn2r58 A G 7: 41,486,394 (GRCm39) Y834H probably damaging Het
Zdhhc8 G T 16: 18,045,636 (GRCm39) 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
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
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
Posted On 2014-05-07