Incidental Mutation 'R8860:Meaf6'
ID 675597
Institutional Source Beutler Lab
Gene Symbol Meaf6
Ensembl Gene ENSMUSG00000028863
Gene Name MYST/Esa1-associated factor 6
Synonyms 2810036M01Rik, 2310005N01Rik
MMRRC Submission 068678-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.787) question?
Stock # R8860 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 124978927-125007031 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 124979990 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 48 (L48Q)
Ref Sequence ENSEMBL: ENSMUSP00000053543 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055213] [ENSMUST00000106171] [ENSMUST00000154689] [ENSMUST00000184205]
AlphaFold Q2VPQ9
Predicted Effect probably damaging
Transcript: ENSMUST00000055213
AA Change: L48Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000053543
Gene: ENSMUSG00000028863
AA Change: L48Q

DomainStartEndE-ValueType
Pfam:NuA4 17 96 1.1e-29 PFAM
low complexity region 157 180 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000106171
AA Change: L20Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101777
Gene: ENSMUSG00000028863
AA Change: L20Q

DomainStartEndE-ValueType
Pfam:NuA4 1 45 9e-14 PFAM
low complexity region 105 128 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000154689
AA Change: L48Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122288
Gene: ENSMUSG00000028863
AA Change: L48Q

DomainStartEndE-ValueType
Pfam:NuA4 16 97 3e-33 PFAM
low complexity region 157 178 N/A INTRINSIC
Predicted Effect
Predicted Effect probably damaging
Transcript: ENSMUST00000184205
AA Change: L48Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138973
Gene: ENSMUSG00000028863
AA Change: L48Q

DomainStartEndE-ValueType
Pfam:NuA4 16 97 2.6e-33 PFAM
low complexity region 157 178 N/A INTRINSIC
Meta Mutation Damage Score 0.9696 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
Validation Efficiency 100% (45/45)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear protein involved in transcriptional activation. The encoded protein may form a component of several different histone acetyltransferase complexes. There is a pseudogene for this gene on chromosome 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T G 12: 71,231,197 (GRCm39) V985G possibly damaging Het
Acr T G 15: 89,458,057 (GRCm39) M246R probably damaging Het
Ago4 A T 4: 126,387,043 (GRCm39) D853E probably benign Het
Atf6 A T 1: 170,680,535 (GRCm39) F52L probably null Het
Blm A T 7: 80,144,276 (GRCm39) C782S probably benign Het
C2cd5 A G 6: 143,028,946 (GRCm39) Y98H probably benign Het
Ccdc106 A G 7: 5,062,570 (GRCm39) D192G probably benign Het
Celf2 A G 2: 6,565,468 (GRCm39) probably null Het
Chd1l A G 3: 97,477,685 (GRCm39) F690S probably benign Het
Chuk A G 19: 44,076,407 (GRCm39) S435P possibly damaging Het
Cisd3 T A 11: 97,576,703 (GRCm39) S10T probably benign Het
Cma2 G T 14: 56,210,574 (GRCm39) C143F probably damaging Het
Cmtm1 TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG 8: 105,036,334 (GRCm39) probably null Het
Cnppd1 A G 1: 75,113,063 (GRCm39) S402P probably damaging Het
Crtc1 A G 8: 70,840,805 (GRCm39) S474P probably damaging Het
Dhx38 A T 8: 110,289,361 (GRCm39) L13* probably null Het
Fat4 A T 3: 38,946,269 (GRCm39) T1721S probably benign Het
Fntb T A 12: 76,934,826 (GRCm39) V201E possibly damaging Het
Gga3 T C 11: 115,481,244 (GRCm39) D242G probably benign Het
Hif3a A T 7: 16,774,912 (GRCm39) M562K probably benign Het
Hnrnpc A G 14: 52,312,792 (GRCm39) S261P possibly damaging Het
Intu G A 3: 40,627,162 (GRCm39) M314I probably benign Het
Lims1 C T 10: 58,243,925 (GRCm39) Q126* probably null Het
Lrrc14b T A 13: 74,509,408 (GRCm39) D333V probably damaging Het
Miip T A 4: 147,950,839 (GRCm39) probably benign Het
Myh4 T A 11: 67,132,335 (GRCm39) I155N probably damaging Het
Nnt T C 13: 119,476,407 (GRCm39) Y733C Het
Nup155 T C 15: 8,159,640 (GRCm39) V517A possibly damaging Het
Obscn C T 11: 58,898,440 (GRCm39) R6607Q unknown Het
Or2ak7 C T 11: 58,574,966 (GRCm39) T89I probably benign Het
Or51s1 A G 7: 102,558,336 (GRCm39) S237P probably benign Het
Ptprg T C 14: 12,213,685 (GRCm38) Y1018H probably damaging Het
Rdh8 A C 9: 20,734,021 (GRCm39) N69T probably benign Het
Rgsl1 G A 1: 153,697,100 (GRCm39) Q572* probably null Het
Septin7 A T 9: 25,163,980 (GRCm39) N16Y possibly damaging Het
Sparcl1 T C 5: 104,241,218 (GRCm39) N69D probably benign Het
Ssh3 A T 19: 4,317,992 (GRCm39) V41E probably damaging Het
Tmem253 A G 14: 52,256,303 (GRCm39) R168G probably benign Het
Vmn2r60 T A 7: 41,791,654 (GRCm39) F526I probably damaging Het
Vmn2r73 A T 7: 85,522,149 (GRCm39) probably benign Het
Vps4b A G 1: 106,710,414 (GRCm39) F156L possibly damaging Het
Zfp354c T A 11: 50,706,019 (GRCm39) H352L probably damaging Het
Zic2 A T 14: 122,713,530 (GRCm39) H148L possibly damaging Het
Other mutations in Meaf6
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1573:Meaf6 UTSW 4 124,983,931 (GRCm39) missense probably benign 0.29
R4827:Meaf6 UTSW 4 124,996,713 (GRCm39) missense probably damaging 0.98
R6513:Meaf6 UTSW 4 124,983,697 (GRCm39) missense probably damaging 1.00
R7888:Meaf6 UTSW 4 125,003,213 (GRCm39) splice site probably null
R8032:Meaf6 UTSW 4 124,996,795 (GRCm39) missense unknown
R8852:Meaf6 UTSW 4 124,979,990 (GRCm39) missense probably damaging 1.00
R9007:Meaf6 UTSW 4 125,001,450 (GRCm39) intron probably benign
R9306:Meaf6 UTSW 4 124,996,766 (GRCm39) missense unknown
R9678:Meaf6 UTSW 4 124,996,689 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- GCTGGTAGCAACACATTTAGTGAG -3'
(R):5'- CCTGCAGCCAAATATTAGTAGAGG -3'

Sequencing Primer
(F):5'- GCCTCTGAAGTAGATGCAAAATC -3'
(R):5'- GGAACTTACTCTGTTGACCAGGC -3'
Posted On 2021-07-15