Incidental Mutation 'R8032:Meaf6'
ID 618006
Institutional Source Beutler Lab
Gene Symbol Meaf6
Ensembl Gene ENSMUSG00000028863
Gene Name MYST/Esa1-associated factor 6
Synonyms 2810036M01Rik, 2310005N01Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.787) question?
Stock # R8032 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 124978927-125007031 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 124996795 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 168 (H168Q)
Ref Sequence ENSEMBL: ENSMUSP00000053543 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055213] [ENSMUST00000106171] [ENSMUST00000154689] [ENSMUST00000184205]
AlphaFold Q2VPQ9
Predicted Effect unknown
Transcript: ENSMUST00000055213
AA Change: H168Q
SMART Domains Protein: ENSMUSP00000053543
Gene: ENSMUSG00000028863
AA Change: H168Q

DomainStartEndE-ValueType
Pfam:NuA4 17 96 1.1e-29 PFAM
low complexity region 157 180 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000106171
AA Change: H140Q

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000101777
Gene: ENSMUSG00000028863
AA Change: H140Q

DomainStartEndE-ValueType
Pfam:NuA4 1 45 9e-14 PFAM
low complexity region 105 128 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000154689
AA Change: H168Q

PolyPhen 2 Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000122288
Gene: ENSMUSG00000028863
AA Change: H168Q

DomainStartEndE-ValueType
Pfam:NuA4 16 97 3e-33 PFAM
low complexity region 157 178 N/A INTRINSIC
Predicted Effect
Predicted Effect unknown
Transcript: ENSMUST00000184205
AA Change: H168Q
SMART Domains Protein: ENSMUSP00000138973
Gene: ENSMUSG00000028863
AA Change: H168Q

DomainStartEndE-ValueType
Pfam:NuA4 16 97 2.6e-33 PFAM
low complexity region 157 178 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actrt2 T A 4: 154,751,955 (GRCm39) E60D probably benign Het
Adamts12 T C 15: 11,259,189 (GRCm39) probably null Het
Ak9 T A 10: 41,300,616 (GRCm39) C1609S unknown Het
Aox1 A T 1: 58,389,442 (GRCm39) Y1147F probably benign Het
Atf7ip T C 6: 136,542,110 (GRCm39) F615L probably benign Het
BC005624 A G 2: 30,865,901 (GRCm39) probably null Het
BC024063 T A 10: 81,943,738 (GRCm39) M33K probably benign Het
Bmpr2 T A 1: 59,906,502 (GRCm39) S532T probably benign Het
Cast G A 13: 74,883,360 (GRCm39) Q292* probably null Het
Ccdc7a G T 8: 129,551,864 (GRCm39) H1249N unknown Het
Cd177 C T 7: 24,455,594 (GRCm39) W309* probably null Het
Col15a1 T C 4: 47,288,108 (GRCm39) I4T unknown Het
Cyp2c39 A G 19: 39,499,426 (GRCm39) I38V probably benign Het
Dmpk A G 7: 18,821,978 (GRCm39) D312G possibly damaging Het
Dnah1 T C 14: 30,993,505 (GRCm39) D2892G probably damaging Het
Dnah10 G A 5: 124,823,676 (GRCm39) D566N probably damaging Het
Dsc2 C T 18: 20,165,331 (GRCm39) G881R possibly damaging Het
Exd2 T A 12: 80,536,427 (GRCm39) D352E probably benign Het
Fgf8 A T 19: 45,725,676 (GRCm39) L187Q probably damaging Het
Frrs1 A G 3: 116,672,009 (GRCm39) I36V probably benign Het
Gga2 A T 7: 121,620,210 (GRCm39) probably null Het
Gigyf2 C G 1: 87,334,735 (GRCm39) H249D unknown Het
Gli2 A T 1: 118,763,900 (GRCm39) M1417K probably damaging Het
Gm10801 C CGTA 2: 98,494,152 (GRCm39) probably null Het
Gm49380 A T 9: 44,023,000 (GRCm39) I416N probably damaging Het
Gpr137 T C 19: 6,919,480 (GRCm39) T16A unknown Het
Grid1 T A 14: 35,045,316 (GRCm39) D386E probably benign Het
Grm3 A G 5: 9,562,272 (GRCm39) V526A probably benign Het
Havcr2 A T 11: 46,370,118 (GRCm39) I231F probably damaging Het
Icam5 C A 9: 20,944,514 (GRCm39) R72S probably benign Het
Ighv9-2 T A 12: 114,072,764 (GRCm39) I70L possibly damaging Het
Inpp5e C T 2: 26,286,865 (GRCm39) S119N Het
Kash5 CGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTC CGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTC 7: 44,837,608 (GRCm39) probably benign Het
Kash5 TCAGGC TCAGGCACAGGC 7: 44,837,630 (GRCm39) probably benign Het
Kxd1 T A 8: 70,966,791 (GRCm39) D110V possibly damaging Het
Mbd4 A G 6: 115,821,594 (GRCm39) S474P probably damaging Het
Nek2 T C 1: 191,558,457 (GRCm39) L254S probably damaging Het
Nhej1 T C 1: 75,007,959 (GRCm39) D104G probably benign Het
Nmnat3 A G 9: 98,292,271 (GRCm39) E172G probably benign Het
Npm3 A T 19: 45,736,682 (GRCm39) D152E probably benign Het
Nsd1 A T 13: 55,458,196 (GRCm39) K2103M probably damaging Het
Ntrk3 C T 7: 78,005,807 (GRCm39) R518H probably damaging Het
Nup210 T A 6: 91,051,331 (GRCm39) T351S probably benign Het
Or10h5 T A 17: 33,434,924 (GRCm39) R131S possibly damaging Het
Or9g19 A G 2: 85,600,210 (GRCm39) I22V probably benign Het
Otof T A 5: 30,619,142 (GRCm39) M1L probably benign Het
Pacs2 T A 12: 113,025,278 (GRCm39) Y477N probably damaging Het
Panx3 A G 9: 37,572,966 (GRCm39) Y195H probably damaging Het
Pcsk5 T C 19: 17,692,151 (GRCm39) R178G probably damaging Het
Pde7a A G 3: 19,314,429 (GRCm39) S56P possibly damaging Het
Prcp T G 7: 92,577,906 (GRCm39) C392G probably damaging Het
Prkdc A G 16: 15,597,315 (GRCm39) K2825R probably benign Het
Ptpn12 T C 5: 21,203,041 (GRCm39) H579R probably benign Het
Rbl1 A T 2: 157,029,918 (GRCm39) Y468* probably null Het
Rbmxl2 A G 7: 106,809,429 (GRCm39) Y238C probably damaging Het
Scgb2b20 A T 7: 33,065,724 (GRCm39) M1K probably null Het
Slc25a18 G A 6: 120,769,452 (GRCm39) G237D probably damaging Het
Slc9a3 G A 13: 74,305,763 (GRCm39) G260D probably damaging Het
Sorcs1 A T 19: 50,463,846 (GRCm39) S201R probably benign Het
Strip1 A C 3: 107,525,394 (GRCm39) D547E probably damaging Het
Thsd7a C T 6: 12,555,287 (GRCm39) C199Y Het
Top1mt A G 15: 75,540,572 (GRCm39) V233A probably damaging Het
Tpp2 C G 1: 44,014,628 (GRCm39) P656A possibly damaging Het
Ttc1 A T 11: 43,628,806 (GRCm39) L193Q probably damaging Het
Ttll4 T A 1: 74,735,632 (GRCm39) D1013E possibly damaging Het
Unc5a T C 13: 55,144,299 (GRCm39) V208A possibly damaging Het
Vmn1r185 C A 7: 26,310,558 (GRCm39) V316F probably benign Het
Vmn2r112 T A 17: 22,822,375 (GRCm39) V351E probably benign Het
Wdfy4 T A 14: 32,751,043 (GRCm39) K2391* probably null Het
Zfhx3 T C 8: 109,677,854 (GRCm39) V2968A possibly damaging Het
Zfp551 G A 7: 12,152,487 (GRCm39) A82V 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
R8852:Meaf6 UTSW 4 124,979,990 (GRCm39) missense probably damaging 1.00
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'- TTGAGGAGTCCTGATCTGGC -3'
(R):5'- TAGTGACTCCCGTGGATCCTTC -3'

Sequencing Primer
(F):5'- CCTGATCTGGCTTTTGGGACC -3'
(R):5'- TGGATCCTTCAGGGCCTC -3'
Posted On 2020-01-23