Incidental Mutation 'R8721:Mtmr6'
ID 662134
Institutional Source Beutler Lab
Gene Symbol Mtmr6
Ensembl Gene ENSMUSG00000021987
Gene Name myotubularin related protein 6
Synonyms Gm38641, 4022440C11Rik
MMRRC Submission 068717-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8721 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 60502677-60539819 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to G at 60527128 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000022563 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022563] [ENSMUST00000022563] [ENSMUST00000224366]
AlphaFold Q8VE11
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 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: 99.9%
  • 10x: 99.1%
  • 20x: 96.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T C 11: 110,035,115 (GRCm39) D684G possibly damaging Het
Abhd16a T C 17: 35,310,571 (GRCm39) V94A possibly damaging Het
Acly A T 11: 100,412,806 (GRCm39) probably null Het
Adamts1 G T 16: 85,594,775 (GRCm39) T621K probably damaging Het
Arhgap24 A T 5: 103,023,565 (GRCm39) T200S possibly damaging Het
Arhgap31 A G 16: 38,427,058 (GRCm39) V598A probably benign Het
Ascc1 T C 10: 59,933,928 (GRCm39) F323S possibly damaging Het
Cdcp3 T C 7: 130,879,335 (GRCm39) S1785P unknown Het
Ces2b T A 8: 105,560,527 (GRCm39) V114D possibly damaging Het
Cfap73 T C 5: 120,768,089 (GRCm39) E223G probably benign Het
Csnk1e T C 15: 79,314,015 (GRCm39) N78S possibly damaging Het
Cyp7a1 G T 4: 6,268,273 (GRCm39) A484E probably damaging Het
Dnah9 G T 11: 65,986,124 (GRCm39) T1170K probably damaging Het
Fam83d G T 2: 158,627,522 (GRCm39) V404L probably benign Het
Fbxw28 C T 9: 109,157,382 (GRCm39) V289I probably benign Het
Frs2 T G 10: 116,909,935 (GRCm39) I476L probably benign Het
Gbp2b A T 3: 142,312,705 (GRCm39) I363F possibly damaging Het
Gm8267 A T 14: 44,959,507 (GRCm39) F186I possibly damaging Het
Hand1 A G 11: 57,722,605 (GRCm39) L3P probably damaging Het
Hmcn2 C T 2: 31,315,189 (GRCm39) L3671F probably damaging Het
Hspa12b A G 2: 130,982,922 (GRCm39) D260G probably benign Het
Itih2 T C 2: 10,111,619 (GRCm39) K440E probably damaging Het
Morn4 A T 19: 42,066,439 (GRCm39) N49K possibly damaging Het
Mylk A T 16: 34,817,176 (GRCm39) D1848V probably damaging Het
Myo7b A G 18: 32,140,064 (GRCm39) V242A probably damaging Het
Or4a74 T C 2: 89,440,186 (GRCm39) K87E probably benign Het
Or8g19 T G 9: 39,055,386 (GRCm39) probably benign Het
Rmdn3 T A 2: 118,969,846 (GRCm39) Q405L possibly damaging Het
Robo2 A G 16: 73,703,798 (GRCm39) S30P Het
Suclg1 G T 6: 73,246,362 (GRCm39) L218F probably damaging Het
Tas2r134 T C 2: 51,517,571 (GRCm39) S17P probably damaging Het
Tdrd9 T C 12: 112,002,889 (GRCm39) L846P probably damaging Het
Tgfbi A G 13: 56,773,599 (GRCm39) N199S probably benign Het
Traj35 C T 14: 54,421,272 (GRCm39) T14I Het
Tril A G 6: 53,797,183 (GRCm39) V13A probably benign Het
Tshz2 T A 2: 169,727,278 (GRCm39) S625T probably benign Het
Ttll12 A G 15: 83,464,784 (GRCm39) F464L probably damaging Het
Wdr35 T C 12: 9,075,044 (GRCm39) probably null Het
Zfp346 A G 13: 55,261,491 (GRCm39) S94G possibly damaging Het
Zfp429 T A 13: 67,538,331 (GRCm39) Y371F probably damaging Het
Zscan4-ps2 A T 7: 11,251,522 (GRCm39) E186V probably benign Het
Other mutations in Mtmr6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00837:Mtmr6 APN 14 60,517,666 (GRCm39) nonsense probably null
IGL01377:Mtmr6 APN 14 60,519,483 (GRCm39) nonsense probably null
IGL02579:Mtmr6 APN 14 60,519,378 (GRCm39) splice site probably benign
IGL02598:Mtmr6 APN 14 60,537,953 (GRCm39) missense probably damaging 1.00
IGL03007:Mtmr6 APN 14 60,526,984 (GRCm39) splice site probably benign
Chilly UTSW 14 60,529,578 (GRCm39) splice site probably null
IGL03046:Mtmr6 UTSW 14 60,529,577 (GRCm39) critical splice donor site probably null
R0542:Mtmr6 UTSW 14 60,529,578 (GRCm39) splice site probably null
R0577:Mtmr6 UTSW 14 60,534,087 (GRCm39) missense possibly damaging 0.67
R1845:Mtmr6 UTSW 14 60,534,184 (GRCm39) missense probably damaging 1.00
R1999:Mtmr6 UTSW 14 60,530,856 (GRCm39) missense probably damaging 1.00
R2018:Mtmr6 UTSW 14 60,536,441 (GRCm39) missense probably benign
R2019:Mtmr6 UTSW 14 60,536,441 (GRCm39) missense probably benign
R2078:Mtmr6 UTSW 14 60,529,436 (GRCm39) splice site probably null
R2120:Mtmr6 UTSW 14 60,534,108 (GRCm39) missense probably damaging 1.00
R3743:Mtmr6 UTSW 14 60,537,747 (GRCm39) missense probably benign 0.02
R4739:Mtmr6 UTSW 14 60,529,546 (GRCm39) missense probably damaging 1.00
R4946:Mtmr6 UTSW 14 60,517,638 (GRCm39) missense possibly damaging 0.95
R5603:Mtmr6 UTSW 14 60,522,450 (GRCm39) nonsense probably null
R6056:Mtmr6 UTSW 14 60,535,619 (GRCm39) missense probably damaging 1.00
R6489:Mtmr6 UTSW 14 60,537,963 (GRCm39) missense possibly damaging 0.93
R7438:Mtmr6 UTSW 14 60,537,753 (GRCm39) missense probably benign 0.42
R7634:Mtmr6 UTSW 14 60,533,596 (GRCm39) missense probably damaging 0.99
R7678:Mtmr6 UTSW 14 60,527,101 (GRCm39) missense probably damaging 1.00
R7784:Mtmr6 UTSW 14 60,537,894 (GRCm39) missense probably benign 0.04
R8003:Mtmr6 UTSW 14 60,519,544 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- AGGCAGCATCTAGATTTTGAGAAG -3'
(R):5'- AGGGCATTGAGAACTTTAGTATCCC -3'

Sequencing Primer
(F):5'- AGCCATTGTCAGGCTTCA -3'
(R):5'- GAACTTTAGTATCCCTCAAAGAACAG -3'
Posted On 2021-03-08