Incidental Mutation 'IGL02082:Mtmr10'
ID283412
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: 0.241) question?
Stock #IGL02082
Quality Score
Status
Chromosome7
Chromosomal Location64287653-64340806 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 64333490 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000146259 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032736] [ENSMUST00000206452]
Predicted Effect probably benign
Transcript: ENSMUST00000032736
SMART Domains Protein: ENSMUSP00000032736
Gene: ENSMUSG00000030522

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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700022I11Rik A G 4: 42,970,198 T2A probably benign Het
Atp9b A C 18: 80,891,930 probably benign Het
Brinp3 T C 1: 146,751,862 C278R probably damaging Het
Cfap54 T C 10: 93,081,458 S47G unknown Het
Clec16a T C 16: 10,614,568 L484P probably damaging Het
Cnksr1 C A 4: 134,236,052 G71C probably damaging Het
Dnah12 A T 14: 26,707,162 N246I possibly damaging Het
Fbxo18 T C 2: 11,764,127 D285G probably benign Het
Focad C T 4: 88,230,578 Q511* probably null Het
Gpr63 A G 4: 25,008,564 probably benign Het
Iah1 C A 12: 21,317,404 S37* probably null Het
Inpp4a T A 1: 37,366,627 probably benign Het
Mcm2 A T 6: 88,888,236 Y486* probably null Het
Nbea A G 3: 55,968,167 L1694S possibly damaging Het
Pafah1b1 A G 11: 74,699,333 S4P probably benign Het
Rnase10 A T 14: 51,009,399 E41V probably damaging Het
Slc17a6 G T 7: 51,669,029 R473L probably benign Het
Tbc1d9b A G 11: 50,163,882 D951G probably benign Het
Tk1 C A 11: 117,825,727 probably null Het
Trim46 C A 3: 89,239,000 A395S probably benign Het
Vmn1r113 C T 7: 20,787,747 H155Y probably benign Het
Vmn1r222 A G 13: 23,232,329 M238T probably damaging Het
Vmn2r72 A T 7: 85,738,166 V730E probably benign Het
Other mutations in Mtmr10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01999:Mtmr10 APN 7 64337712 missense 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 On2015-04-16