Incidental Mutation 'IGL00837:Mtmr6'
ID12120
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mtmr6
Ensembl Gene ENSMUSG00000021987
Gene Namemyotubularin related protein 6
Synonyms4022440C11Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00837
Quality Score
Status
Chromosome14
Chromosomal Location60265228-60302370 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 60280217 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 92 (Y92*)
Ref Sequence ENSEMBL: ENSMUSP00000153403 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022563] [ENSMUST00000224366]
Predicted Effect probably null
Transcript: ENSMUST00000022563
AA Change: Y92*
SMART Domains Protein: ENSMUSP00000022563
Gene: ENSMUSG00000021987
AA Change: Y92*

DomainStartEndE-ValueType
Pfam:Myotub-related 107 446 1.3e-143 PFAM
coiled coil region 510 548 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000224366
AA Change: Y92*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225574
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcyap1r1 T C 6: 55,461,620 probably benign Het
Adig T A 2: 158,502,789 F16Y possibly damaging Het
Alox12e T C 11: 70,321,054 T210A probably benign Het
Ankfy1 T A 11: 72,755,898 probably benign Het
Aoc1 T A 6: 48,908,664 I701N possibly damaging Het
Armc1 A C 3: 19,144,420 N125K probably benign Het
Bcl2a1c A T 9: 114,330,492 T113S probably benign Het
Cdh10 A T 15: 19,013,404 I697L probably benign Het
Cep350 A T 1: 155,953,391 S256T probably damaging Het
Chd6 T C 2: 161,042,079 N82S probably benign Het
Gart T C 16: 91,638,720 probably benign Het
Gtf3c6 A G 10: 40,254,474 probably benign Het
Igf1r T C 7: 68,201,352 probably benign Het
Muc13 A T 16: 33,807,959 K360* probably null Het
Nfyc A G 4: 120,781,547 probably benign Het
Pole T A 5: 110,302,009 V774E possibly damaging Het
Rnf217 A G 10: 31,503,774 L484P probably damaging Het
Slc18a2 A T 19: 59,284,384 I373F probably benign Het
Slc5a9 A G 4: 111,893,690 probably benign Het
Tbc1d30 T C 10: 121,296,845 I205V probably damaging Het
Tfap2d A T 1: 19,119,206 D270V probably damaging Het
Tmem63c G A 12: 87,077,197 S483N probably benign Het
Tor1aip1 T A 1: 156,006,916 probably benign Het
Tsga10 A C 1: 37,801,911 probably benign Het
Ttc21b A T 2: 66,235,571 probably null Het
Wdr89 A T 12: 75,633,051 L143* probably null Het
Other mutations in Mtmr6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01377:Mtmr6 APN 14 60282034 nonsense probably null
IGL02579:Mtmr6 APN 14 60281929 splice site probably benign
IGL02598:Mtmr6 APN 14 60300504 missense probably damaging 1.00
IGL03007:Mtmr6 APN 14 60289535 splice site probably benign
Chilly UTSW 14 60292129 splice site probably null
IGL03046:Mtmr6 UTSW 14 60292128 critical splice donor site probably null
R0542:Mtmr6 UTSW 14 60292129 splice site probably null
R0577:Mtmr6 UTSW 14 60296638 missense possibly damaging 0.67
R1845:Mtmr6 UTSW 14 60296735 missense probably damaging 1.00
R1999:Mtmr6 UTSW 14 60293407 missense probably damaging 1.00
R2018:Mtmr6 UTSW 14 60298992 missense probably benign
R2019:Mtmr6 UTSW 14 60298992 missense probably benign
R2078:Mtmr6 UTSW 14 60291987 splice site probably null
R2120:Mtmr6 UTSW 14 60296659 missense probably damaging 1.00
R3743:Mtmr6 UTSW 14 60300298 missense probably benign 0.02
R4739:Mtmr6 UTSW 14 60292097 missense probably damaging 1.00
R4946:Mtmr6 UTSW 14 60280189 missense possibly damaging 0.95
R5603:Mtmr6 UTSW 14 60285001 nonsense probably null
R6056:Mtmr6 UTSW 14 60298170 missense probably damaging 1.00
R6489:Mtmr6 UTSW 14 60300514 missense possibly damaging 0.93
Posted On2012-12-06