Incidental Mutation 'R8003:Mtmr6'
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ID616475
Institutional Source Beutler Lab
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 #R8003 (G1)
Quality Score225.009
Status Not validated
Chromosome14
Chromosomal Location60265228-60302370 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 60282095 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000022563 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022563] [ENSMUST00000224366]
Predicted Effect probably null
Transcript: ENSMUST00000022563
SMART Domains Protein: ENSMUSP00000022563
Gene: ENSMUSG00000021987

DomainStartEndE-ValueType
Pfam:Myotub-related 107 446 1.3e-143 PFAM
coiled coil region 510 548 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000224366
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy4 A G 14: 55,781,635 V155A probably benign Het
Arfgef2 A G 2: 166,853,288 Y527C probably damaging Het
B020004J07Rik T C 4: 101,835,933 K290R probably benign Het
Brca1 C T 11: 101,524,477 G944R probably benign Het
C2cd2 A G 16: 97,886,086 probably null Het
Cass4 T C 2: 172,427,959 F654L unknown Het
Ccdc178 A T 18: 21,844,887 probably null Het
Cct4 T C 11: 22,996,040 probably null Het
Cish T C 9: 107,297,028 V5A possibly damaging Het
Col6a3 G T 1: 90,775,733 N3037K unknown Het
Csmd2 T A 4: 128,539,187 C3012* probably null Het
Dclk2 T C 3: 86,793,301 probably null Het
Dhx38 A T 8: 109,556,140 D631E probably damaging Het
Eif2ak2 C A 17: 78,876,223 A66S probably damaging Het
Ephx2 A G 14: 66,124,333 probably null Het
Fbxw10 T G 11: 62,857,761 C405G possibly damaging Het
Galnt13 G T 2: 55,060,485 G393* probably null Het
Gm5591 G T 7: 38,519,759 H563Q probably damaging Het
Gtf3c5 A G 2: 28,569,361 I394T probably benign Het
Hectd4 G A 5: 121,339,518 A2835T possibly damaging Het
Herc2 A G 7: 56,168,904 D2781G possibly damaging Het
Kmt2b G T 7: 30,569,377 H2642Q probably damaging Het
Lars A T 18: 42,221,619 D754E probably damaging Het
Lrpprc A C 17: 84,752,317 S690A probably benign Het
Map3k6 A G 4: 133,248,882 T805A probably benign Het
Mthfd1l T G 10: 3,984,147 S160A probably benign Het
Mybpc2 A T 7: 44,509,064 M698K probably damaging Het
Myh8 T A 11: 67,299,760 L1304M probably damaging Het
Mylip T A 13: 45,404,471 V117E probably benign Het
Npc1l1 T C 11: 6,215,129 Q1061R probably benign Het
Olfr1148 A G 2: 87,833,737 R233G probably benign Het
Olfr1164 A T 2: 88,093,245 Y230* probably null Het
Pkd2l2 G A 18: 34,428,179 M413I probably damaging Het
Plch2 C T 4: 155,054,523 G19D unknown Het
Psg22 A C 7: 18,724,425 Y347S probably damaging Het
Ptpre C A 7: 135,669,036 Q314K probably damaging Het
Rgs6 T C 12: 82,985,370 S54P probably damaging Het
Sbds C A 5: 130,250,885 V130F possibly damaging Het
Slc1a7 G A 4: 108,012,276 V513M probably benign Het
Slc24a2 A T 4: 87,176,315 D322E probably benign Het
Slc45a4 G T 15: 73,585,313 Y585* probably null Het
Slc7a4 A C 16: 17,574,451 V373G possibly damaging Het
Sulf1 G A 1: 12,838,601 V613M probably damaging Het
Syt1 T C 10: 108,636,573 D150G probably damaging Het
Tnpo3 C A 6: 29,551,901 V888F probably benign Het
Trim9 T C 12: 70,346,834 H112R probably benign Het
Vmn2r80 T C 10: 79,148,877 I21T probably benign Het
Wdr41 C A 13: 95,013,146 A286E possibly damaging Het
Wnt8b T A 19: 44,511,957 C328S probably damaging Het
Ybx3 A T 6: 131,368,437 Y324* probably null Het
Zmynd15 T A 11: 70,460,941 H124Q probably benign Het
Other mutations in Mtmr6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00837:Mtmr6 APN 14 60280217 nonsense probably null
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
R7438:Mtmr6 UTSW 14 60300304 missense probably benign 0.42
R7634:Mtmr6 UTSW 14 60296147 missense probably damaging 0.99
R7678:Mtmr6 UTSW 14 60289652 missense probably damaging 1.00
R7784:Mtmr6 UTSW 14 60300445 missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- ATTTCTTTGAAGAAGGGGTAAGCC -3'
(R):5'- AGGTTCTAAAAGGTAAGTGCATAGC -3'

Sequencing Primer
(F):5'- GGTAAGCCCTGAAAATCCGTTTTATC -3'
(R):5'- TCTACAGACTGCTGACCAC -3'
Posted On2020-01-23