Incidental Mutation 'IGL01999:Mtmr10'
ID182144
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mtmr10
Ensembl Gene ENSMUSG00000030522
Gene Namemyotubularin related protein 10
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.244) question?
Stock #IGL01999
Quality Score
Status
Chromosome7
Chromosomal Location64287653-64340806 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 64337712 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Aspartic acid at position 667 (N667D)
Ref Sequence ENSEMBL: ENSMUSP00000032736 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032736] [ENSMUST00000206452]
Predicted Effect probably benign
Transcript: ENSMUST00000032736
AA Change: N667D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000032736
Gene: ENSMUSG00000030522
AA Change: N667D

DomainStartEndE-ValueType
Pfam:Myotub-related 176 330 8.6e-12 PFAM
Pfam:Myotub-related 319 508 2.7e-56 PFAM
Pfam:3-PAP 570 701 2.2e-57 PFAM
low complexity region 730 737 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173374
Predicted Effect probably benign
Transcript: ENSMUST00000206452
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028P14Rik C A 19: 23,592,165 L130F possibly damaging Het
Cabs1 C T 5: 87,979,928 T146I possibly damaging Het
Cfap161 C T 7: 83,791,691 V118M probably damaging Het
Chrna7 T C 7: 63,103,791 M327V probably damaging Het
Ddx18 A G 1: 121,561,728 I228T probably benign Het
Dnhd1 T A 7: 105,721,215 S4616T possibly damaging Het
Dsp T A 13: 38,181,186 M515K probably damaging Het
Dysf C T 6: 84,113,618 P1002L probably damaging Het
Exoc7 T C 11: 116,301,100 probably null Het
Gria2 G A 3: 80,732,091 R205W probably damaging Het
Hacd2 T C 16: 35,048,713 probably benign Het
Helz G T 11: 107,602,928 probably benign Het
Hgfac A G 5: 35,044,811 N352S probably benign Het
Mfsd11 T A 11: 116,861,585 F135I probably damaging Het
Mtmr9 A C 14: 63,542,454 F62C probably damaging Het
Nelfcd T C 2: 174,423,515 probably benign Het
Nfasc A G 1: 132,605,247 probably benign Het
Npnt C T 3: 132,908,399 R150Q probably damaging Het
Olfr1462 G A 19: 13,191,560 A298T probably damaging Het
Olfr476 C T 7: 107,967,468 R24C probably benign Het
Olfr524 C T 7: 140,202,432 E113K probably damaging Het
Pcdhb2 C T 18: 37,296,837 A621V probably damaging Het
Pkd1l1 C A 11: 8,836,291 W1921L probably benign Het
Plcb1 G A 2: 135,346,318 R777Q probably damaging Het
Plch1 G A 3: 63,753,307 P297L probably damaging Het
Ppp2r2b T C 18: 42,645,723 probably benign Het
Ppp6r2 A G 15: 89,269,952 D372G probably benign Het
Rtn4r A G 16: 18,151,457 R250G possibly damaging Het
Sec61a2 A G 2: 5,891,363 probably benign Het
Sema3g G T 14: 31,217,965 V19L probably benign Het
Sult2a7 T C 7: 14,491,723 T113A probably benign Het
Tcp11l1 T C 2: 104,698,569 D128G possibly damaging Het
Tln2 C T 9: 67,392,505 R155Q possibly damaging Het
Vcan A G 13: 89,684,438 L2150P probably damaging Het
Vmn1r40 A C 6: 89,714,966 N255T probably benign Het
Vmn2r68 T C 7: 85,222,231 N615D probably damaging Het
Zdhhc25 A G 15: 88,601,014 E184G probably damaging Het
Other mutations in Mtmr10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02082:Mtmr10 APN 7 64333490 splice site probably benign
IGL02234:Mtmr10 APN 7 64299602 missense probably benign 0.04
IGL02448:Mtmr10 APN 7 64308150 missense probably damaging 1.00
IGL02515:Mtmr10 APN 7 64337511 missense probably damaging 1.00
Curlyq UTSW 7 64333439 missense probably damaging 1.00
K7371:Mtmr10 UTSW 7 64314210 missense probably benign 0.18
PIT4472001:Mtmr10 UTSW 7 64333358 missense probably benign 0.23
R0302:Mtmr10 UTSW 7 64297497 missense probably damaging 1.00
R0619:Mtmr10 UTSW 7 64321213 missense probably benign 0.00
R0787:Mtmr10 UTSW 7 64300615 missense possibly damaging 0.95
R0972:Mtmr10 UTSW 7 64326709 missense probably damaging 1.00
R1482:Mtmr10 UTSW 7 64314249 missense probably damaging 1.00
R1770:Mtmr10 UTSW 7 64336721 missense possibly damaging 0.47
R1826:Mtmr10 UTSW 7 64337466 missense probably benign 0.00
R2174:Mtmr10 UTSW 7 64336764 missense possibly damaging 0.94
R2215:Mtmr10 UTSW 7 64337655 missense probably benign 0.00
R2352:Mtmr10 UTSW 7 64297580 missense possibly damaging 0.71
R2411:Mtmr10 UTSW 7 64297497 missense probably damaging 1.00
R3702:Mtmr10 UTSW 7 64337899 missense probably damaging 1.00
R3710:Mtmr10 UTSW 7 64326685 missense possibly damaging 0.86
R3802:Mtmr10 UTSW 7 64320628 missense probably benign 0.29
R4190:Mtmr10 UTSW 7 64314186 missense probably benign 0.37
R4484:Mtmr10 UTSW 7 64320631 missense possibly damaging 0.86
R4562:Mtmr10 UTSW 7 64314159 missense possibly damaging 0.92
R5128:Mtmr10 UTSW 7 64333439 missense probably damaging 1.00
R5203:Mtmr10 UTSW 7 64318161 missense probably benign
R5444:Mtmr10 UTSW 7 64288401 unclassified probably null
R5627:Mtmr10 UTSW 7 64336752 missense probably damaging 1.00
R5786:Mtmr10 UTSW 7 64337710 missense probably damaging 1.00
R7078:Mtmr10 UTSW 7 64320627 missense possibly damaging 0.65
R7236:Mtmr10 UTSW 7 64314184 utr 3 prime probably benign
Posted On2014-05-07