Incidental Mutation 'IGL03370:Mtmr3'
ID 420266
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 # IGL03370
Quality Score
Status
Chromosome 11
Chromosomal Location 4430868-4544863 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4437385 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 1023 (D1023G)
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 damaging
Transcript: ENSMUST00000040448
AA Change: D1023G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000049079
Gene: ENSMUSG00000034354
AA Change: D1023G

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 damaging
Transcript: ENSMUST00000109943
AA Change: D1023G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105569
Gene: ENSMUSG00000034354
AA Change: D1023G

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 damaging
Transcript: ENSMUST00000123506
AA Change: D1022G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122422
Gene: ENSMUSG00000034354
AA Change: D1022G

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 damaging
Transcript: ENSMUST00000128256
AA Change: D1022G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116315
Gene: ENSMUSG00000034354
AA Change: D1022G

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 damaging
Transcript: ENSMUST00000130716
AA Change: D1023G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137687
Gene: ENSMUSG00000034354
AA Change: D1023G

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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl7b A G 4: 56,741,173 (GRCm39) Y62H probably damaging Het
Cfap52 A G 11: 67,829,881 (GRCm39) I296T probably damaging Het
Col14a1 A G 15: 55,351,937 (GRCm39) probably null Het
Daam2 G T 17: 49,793,529 (GRCm39) D329E probably benign Het
Defb26 A G 2: 152,349,902 (GRCm39) V126A probably benign Het
Fasn A T 11: 120,703,621 (GRCm39) I1535N possibly damaging Het
Fbxw15 A T 9: 109,384,219 (GRCm39) Y431N probably benign Het
Fbxw26 T G 9: 109,575,087 (GRCm39) I13L probably damaging Het
Fggy A T 4: 95,710,301 (GRCm39) H300L probably damaging Het
Fndc3c1 G A X: 105,464,307 (GRCm39) T1277I probably benign Het
Gigyf1 G T 5: 137,523,952 (GRCm39) V1041L possibly damaging Het
Kif26b G A 1: 178,742,946 (GRCm39) R567H probably benign Het
Kpna6 G A 4: 129,549,314 (GRCm39) T156M probably damaging Het
Lrrc37a C T 11: 103,388,499 (GRCm39) E2309K unknown Het
Lyn T C 4: 3,780,931 (GRCm39) Y357H possibly damaging Het
Mki67 A G 7: 135,297,219 (GRCm39) V2605A probably benign Het
Muc5b G T 7: 141,418,514 (GRCm39) R3820L probably benign Het
Mus81 A G 19: 5,534,991 (GRCm39) probably benign Het
Nup188 A G 2: 30,230,653 (GRCm39) Y1397C possibly damaging Het
Pgd A T 4: 149,249,685 (GRCm39) V29D probably damaging Het
Plch2 T C 4: 155,071,371 (GRCm39) S244G probably benign Het
Rapgef5 C A 12: 117,694,294 (GRCm39) T372K probably damaging Het
Rb1 A G 14: 73,520,306 (GRCm39) probably null Het
Ryr3 A T 2: 112,586,944 (GRCm39) V2680E possibly damaging Het
Sgsm3 A C 15: 80,895,855 (GRCm39) probably null Het
Slc38a1 C T 15: 96,477,228 (GRCm39) V362I possibly damaging Het
Sun1 T A 5: 139,216,886 (GRCm39) D308E probably damaging Het
Tns1 C T 1: 74,025,053 (GRCm39) V387M probably damaging Het
Ttn C A 2: 76,582,083 (GRCm39) G22937C probably damaging Het
Ubr1 C A 2: 120,725,641 (GRCm39) A1258S probably benign Het
Vmn2r74 A G 7: 85,607,265 (GRCm39) F153L 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
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 2016-08-02