Incidental Mutation 'R8852:Meaf6'
ID 675046
Institutional Source Beutler Lab
Gene Symbol Meaf6
Ensembl Gene ENSMUSG00000028863
Gene Name MYST/Esa1-associated factor 6
Synonyms 2810036M01Rik, 2310005N01Rik
MMRRC Submission 068674-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.787) question?
Stock # R8852 (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: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (53/53)
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: 50 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
Adgrf5 G T 17: 43,763,989 (GRCm39) V1304L possibly damaging Het
Ago4 A T 4: 126,387,043 (GRCm39) D853E probably benign Het
Arvcf C A 16: 18,222,203 (GRCm39) D790E probably benign Het
Atp8a2 A C 14: 60,162,545 (GRCm39) D725E probably damaging Het
C2cd5 A G 6: 143,028,946 (GRCm39) Y98H probably benign Het
Camkk2 T C 5: 122,891,820 (GRCm39) Y234C probably damaging Het
Ccdc106 A G 7: 5,062,570 (GRCm39) D192G probably benign Het
Ccm2l T C 2: 152,916,788 (GRCm39) Y340H probably damaging 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
Cnppd1 A G 1: 75,113,063 (GRCm39) S402P probably damaging Het
Cped1 A G 6: 22,215,620 (GRCm39) D718G probably damaging Het
Crtc1 A G 8: 70,840,805 (GRCm39) S474P probably damaging Het
Dcpp3 G T 17: 24,138,123 (GRCm39) E94* probably null Het
Dhx38 A T 8: 110,289,361 (GRCm39) L13* probably null Het
Dmbt1 T C 7: 130,642,853 (GRCm39) Y120H unknown 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
Gsx2 T C 5: 75,236,996 (GRCm39) M192T possibly damaging Het
Hif3a A T 7: 16,774,912 (GRCm39) M562K probably benign Het
Irf5 G A 6: 29,535,997 (GRCm39) R337H probably damaging Het
Kcnmb3 A G 3: 32,526,624 (GRCm39) V189A possibly damaging Het
Letmd1 A G 15: 100,373,247 (GRCm39) T241A probably benign Het
Lrrc14b T A 13: 74,509,408 (GRCm39) D333V probably damaging Het
Miip T A 4: 147,950,839 (GRCm39) probably benign Het
Muc4 A G 16: 32,569,461 (GRCm39) T236A possibly damaging Het
Myh4 T A 11: 67,132,335 (GRCm39) I155N probably 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
Or5v1 G A 17: 37,810,321 (GRCm39) V260M probably benign Het
Otof T C 5: 30,529,044 (GRCm39) N1788S possibly damaging Het
Psapl1 T C 5: 36,362,314 (GRCm39) L302S probably damaging Het
Rdh8 A C 9: 20,734,021 (GRCm39) N69T probably benign Het
Ryr3 T C 2: 112,624,844 (GRCm39) E2212G probably damaging Het
Septin7 A T 9: 25,163,980 (GRCm39) N16Y possibly damaging Het
Slc22a17 A T 14: 55,146,436 (GRCm39) L60Q probably damaging Het
Snrnp200 T C 2: 127,060,349 (GRCm39) I531T probably damaging Het
Ssh3 A T 19: 4,317,992 (GRCm39) V41E probably damaging Het
Tars1 G T 15: 11,393,348 (GRCm39) N115K probably benign Het
Tomm6 G C 17: 47,998,850 (GRCm39) F34L possibly damaging Het
Txnrd2 G A 16: 18,259,601 (GRCm39) V173M possibly damaging Het
Uba6 T A 5: 86,289,454 (GRCm39) I450F possibly damaging Het
Vmn2r95 G T 17: 18,664,113 (GRCm39) S516I possibly damaging 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
Zfp521 T C 18: 14,072,150 (GRCm39) D30G probably benign 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
R8860: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'- AGCTCACGGTCTGTCTCATC -3'
(R):5'- CCTGCAGCCAAATATTAGTAGAGG -3'

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