Incidental Mutation 'R1457:Kat6a'
ID 158578
Institutional Source Beutler Lab
Gene Symbol Kat6a
Ensembl Gene ENSMUSG00000031540
Gene Name K(lysine) acetyltransferase 6A
Synonyms Zfp220, Myst3, MOZ, 9930021N24Rik
MMRRC Submission 039512-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1457 (G1)
Quality Score 211
Status Not validated
Chromosome 8
Chromosomal Location 23349551-23433275 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 23428668 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 1341 (I1341T)
Ref Sequence ENSEMBL: ENSMUSP00000106324 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044331] [ENSMUST00000110696]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000044331
AA Change: I1341T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000038181
Gene: ENSMUSG00000031540
AA Change: I1341T

DomainStartEndE-ValueType
H15 85 165 1.88e-5 SMART
low complexity region 184 195 N/A INTRINSIC
PHD 208 263 1.7e-7 SMART
RING 209 262 1.28e0 SMART
PHD 264 311 9.84e-13 SMART
RING 265 310 4.15e0 SMART
low complexity region 371 378 N/A INTRINSIC
Pfam:MOZ_SAS 561 748 5.9e-92 PFAM
low complexity region 787 800 N/A INTRINSIC
low complexity region 985 1003 N/A INTRINSIC
low complexity region 1011 1029 N/A INTRINSIC
low complexity region 1031 1044 N/A INTRINSIC
low complexity region 1066 1079 N/A INTRINSIC
low complexity region 1149 1162 N/A INTRINSIC
low complexity region 1224 1238 N/A INTRINSIC
low complexity region 1257 1273 N/A INTRINSIC
coiled coil region 1278 1308 N/A INTRINSIC
low complexity region 1397 1409 N/A INTRINSIC
low complexity region 1471 1490 N/A INTRINSIC
low complexity region 1528 1542 N/A INTRINSIC
low complexity region 1569 1597 N/A INTRINSIC
low complexity region 1641 1700 N/A INTRINSIC
low complexity region 1802 1813 N/A INTRINSIC
low complexity region 1950 1958 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110696
AA Change: I1341T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000106324
Gene: ENSMUSG00000031540
AA Change: I1341T

DomainStartEndE-ValueType
H15 85 165 1.88e-5 SMART
low complexity region 184 195 N/A INTRINSIC
PHD 208 263 1.7e-7 SMART
RING 209 262 1.28e0 SMART
PHD 264 311 9.84e-13 SMART
RING 265 310 4.15e0 SMART
low complexity region 371 378 N/A INTRINSIC
Pfam:MOZ_SAS 564 742 2.9e-85 PFAM
low complexity region 787 800 N/A INTRINSIC
low complexity region 985 1003 N/A INTRINSIC
low complexity region 1011 1029 N/A INTRINSIC
low complexity region 1031 1044 N/A INTRINSIC
low complexity region 1066 1079 N/A INTRINSIC
low complexity region 1149 1162 N/A INTRINSIC
low complexity region 1224 1238 N/A INTRINSIC
low complexity region 1257 1273 N/A INTRINSIC
coiled coil region 1278 1308 N/A INTRINSIC
low complexity region 1397 1409 N/A INTRINSIC
low complexity region 1471 1490 N/A INTRINSIC
low complexity region 1528 1542 N/A INTRINSIC
low complexity region 1569 1597 N/A INTRINSIC
low complexity region 1641 1700 N/A INTRINSIC
low complexity region 1802 1813 N/A INTRINSIC
low complexity region 1950 1958 N/A INTRINSIC
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.7%
  • 20x: 87.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the MOZ, YBFR2, SAS2, TIP60 family of histone acetyltransferases. The protein is composed of a nuclear localization domain, a double C2H2 zinc finger domain that binds to acetylated histone tails, a histone acetyl-transferase domain, a glutamate/aspartate-rich region, and a serine- and methionine-rich transactivation domain. It is part of a complex that acetylates lysine-9 residues in histone 3, and in addition, it acts as a co-activator for several transcription factors. Allelic variants of this gene are associated with autosomal dominant mental retardation-32. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Homozygous null mice display perinatal lethality, cyanosis, decreased hematopoietic progenitor cell numbers, and severely impaired spleen and thymus development, but are not anemic. Heterozygotes display strain background dependent reductions in fertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A T 7: 119,888,683 (GRCm39) I1210F probably benign Het
Ankrd17 T C 5: 90,433,705 (GRCm39) H688R possibly damaging Het
Arhgap24 T A 5: 102,811,972 (GRCm39) N66K probably damaging Het
Atp1a1 C T 3: 101,497,782 (GRCm39) G335D probably damaging Het
Cacna1g C T 11: 94,350,381 (GRCm39) R488H possibly damaging Het
Cacna1h A T 17: 25,616,594 (GRCm39) V149E probably damaging Het
Cd22 G T 7: 30,572,595 (GRCm39) P338Q probably benign Het
Cntln G T 4: 85,015,076 (GRCm39) M1122I probably benign Het
Cntrl A G 2: 35,012,768 (GRCm39) N302S probably benign Het
Cog8 T C 8: 107,779,528 (GRCm39) R250G probably damaging Het
Cracdl A T 1: 37,665,093 (GRCm39) Y268* probably null Het
Creld2 T C 15: 88,707,956 (GRCm39) C232R probably damaging Het
Cyp2b23 G A 7: 26,372,574 (GRCm39) P347L probably damaging Het
Dnah5 T C 15: 28,403,688 (GRCm39) probably null Het
Eml6 C T 11: 29,974,459 (GRCm39) V40I probably damaging Het
Epb42 C T 2: 120,860,448 (GRCm39) probably null Het
Fcrla A G 1: 170,748,573 (GRCm39) L190P probably damaging Het
Galnt18 A T 7: 111,378,635 (GRCm39) Y40* probably null Het
Gdf7 A T 12: 8,348,073 (GRCm39) M416K probably damaging Het
Gm11232 T A 4: 71,675,156 (GRCm39) probably null Het
Gpam T A 19: 55,076,608 (GRCm39) N198Y probably damaging Het
Grip1 C T 10: 119,822,255 (GRCm39) S327F possibly damaging Het
Hey2 C T 10: 30,710,352 (GRCm39) A134T probably benign Het
Kcnd3 T C 3: 105,575,502 (GRCm39) L542P probably benign Het
Lars1 G A 18: 42,343,115 (GRCm39) R1101C probably damaging Het
Lman2 T C 13: 55,499,064 (GRCm39) D234G probably benign Het
Map3k19 A C 1: 127,745,635 (GRCm39) I1273R probably damaging Het
Matn1 T A 4: 130,677,330 (GRCm39) F180I possibly damaging Het
Meikin T A 11: 54,261,767 (GRCm39) L61* probably null Het
Mroh2b G T 15: 4,955,166 (GRCm39) D720Y probably damaging Het
Myh13 T C 11: 67,221,872 (GRCm39) I199T probably damaging Het
Myh4 T A 11: 67,139,287 (GRCm39) S535T probably damaging Het
Myo5a T C 9: 75,120,347 (GRCm39) M1715T probably damaging Het
Nat8 A T 6: 85,807,971 (GRCm39) V54D probably damaging Het
Nbea A G 3: 55,992,748 (GRCm39) V286A probably damaging Het
Ndnf A G 6: 65,680,998 (GRCm39) K426E possibly damaging Het
Nup210l T A 3: 90,098,279 (GRCm39) N1410K possibly damaging Het
Oca2 A T 7: 55,971,269 (GRCm39) T399S probably damaging Het
Or10al2 A T 17: 37,983,816 (GRCm39) K301* probably null Het
Or1af1 A C 2: 37,109,671 (GRCm39) T57P possibly damaging Het
Or51a43 A T 7: 103,717,666 (GRCm39) C191S probably damaging Het
Or52h7 T A 7: 104,214,278 (GRCm39) N283K probably damaging Het
Or8c10 G A 9: 38,279,492 (GRCm39) V217I probably benign Het
Or8j3 A G 2: 86,028,596 (GRCm39) S167P probably damaging Het
Otogl A C 10: 107,714,013 (GRCm39) probably null Het
Pde4b C T 4: 102,462,373 (GRCm39) T511I probably damaging Het
Proser3 A G 7: 30,239,172 (GRCm39) probably null Het
Psmd12 G A 11: 107,370,472 (GRCm39) V24M probably damaging Het
Rbm17 A T 2: 11,598,272 (GRCm39) M170K probably benign Het
Rims2 C T 15: 39,374,710 (GRCm39) T1064I possibly damaging Het
Ripor3 C T 2: 167,834,573 (GRCm39) V281M probably damaging Het
Rreb1 C A 13: 38,130,904 (GRCm39) Q1353K possibly damaging Het
Sgo2a A G 1: 58,054,965 (GRCm39) D383G probably benign Het
Sik3 C T 9: 46,132,446 (GRCm39) T1346M probably damaging Het
Slx1b A T 7: 126,291,968 (GRCm39) V63E probably damaging Het
Son A G 16: 91,453,974 (GRCm39) D907G probably damaging Het
Src G A 2: 157,311,132 (GRCm39) V401M probably damaging Het
St3gal4 T C 9: 34,966,053 (GRCm39) K24E possibly damaging Het
Stat6 A G 10: 127,494,114 (GRCm39) K647R probably damaging Het
Tbl1xr1 G A 3: 22,247,333 (GRCm39) probably null Het
Tlk2 G A 11: 105,147,778 (GRCm39) probably null Het
Tmbim6 T A 15: 99,299,496 (GRCm39) I3K probably benign Het
Tmeff2 A T 1: 51,221,026 (GRCm39) I334F probably damaging Het
Ttn T C 2: 76,670,659 (GRCm39) probably null Het
Ubl7 T A 9: 57,821,894 (GRCm39) I81N probably damaging Het
Ugt1a10 A G 1: 87,983,433 (GRCm39) Y77C probably damaging Het
Uqcrfs1 A G 13: 30,724,890 (GRCm39) C217R probably damaging Het
Usp50 T C 2: 126,603,554 (GRCm39) T331A probably benign Het
Vmn1r65 A G 7: 6,012,156 (GRCm39) V26A probably benign Het
Wdfy3 A C 5: 102,065,445 (GRCm39) V1241G possibly damaging Het
Wtap A C 17: 13,200,631 (GRCm39) probably null Het
Zbtb40 C A 4: 136,712,148 (GRCm39) A1187S possibly damaging Het
Zfp57 T C 17: 37,316,990 (GRCm39) S20P probably damaging Het
Zfp592 A G 7: 80,674,227 (GRCm39) D397G probably damaging Het
Zfp747 A T 7: 126,973,676 (GRCm39) S165T probably benign Het
Zfp949 C T 9: 88,451,891 (GRCm39) T487I probably damaging Het
Zscan4d A G 7: 10,898,921 (GRCm39) C119R probably damaging Het
Other mutations in Kat6a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00921:Kat6a APN 8 23,430,279 (GRCm39) missense unknown
IGL01093:Kat6a APN 8 23,429,337 (GRCm39) missense possibly damaging 0.85
IGL01364:Kat6a APN 8 23,397,716 (GRCm39) missense probably damaging 1.00
IGL01868:Kat6a APN 8 23,416,471 (GRCm39) missense probably damaging 1.00
IGL02477:Kat6a APN 8 23,419,316 (GRCm39) missense probably damaging 1.00
IGL02792:Kat6a APN 8 23,428,316 (GRCm39) missense probably damaging 0.98
IGL03243:Kat6a APN 8 23,400,238 (GRCm39) missense possibly damaging 0.77
Anning UTSW 8 23,422,129 (GRCm39) critical splice acceptor site probably null
Jackal UTSW 8 23,420,190 (GRCm39) missense probably damaging 0.99
lobo UTSW 8 23,400,265 (GRCm39) missense probably damaging 0.99
lord UTSW 8 23,352,380 (GRCm39) missense probably damaging 1.00
master UTSW 8 23,352,804 (GRCm39) missense probably damaging 0.99
R0018:Kat6a UTSW 8 23,419,289 (GRCm39) missense possibly damaging 0.74
R0018:Kat6a UTSW 8 23,419,289 (GRCm39) missense possibly damaging 0.74
R0284:Kat6a UTSW 8 23,429,819 (GRCm39) missense unknown
R0636:Kat6a UTSW 8 23,429,339 (GRCm39) missense possibly damaging 0.73
R0883:Kat6a UTSW 8 23,352,230 (GRCm39) missense probably damaging 1.00
R1753:Kat6a UTSW 8 23,425,813 (GRCm39) missense probably benign 0.09
R2059:Kat6a UTSW 8 23,429,321 (GRCm39) missense possibly damaging 0.53
R2155:Kat6a UTSW 8 23,425,663 (GRCm39) small deletion probably benign
R2764:Kat6a UTSW 8 23,422,194 (GRCm39) missense probably damaging 1.00
R3724:Kat6a UTSW 8 23,352,804 (GRCm39) missense probably damaging 0.99
R3824:Kat6a UTSW 8 23,352,380 (GRCm39) missense probably damaging 1.00
R3825:Kat6a UTSW 8 23,352,380 (GRCm39) missense probably damaging 1.00
R4370:Kat6a UTSW 8 23,401,945 (GRCm39) missense possibly damaging 0.95
R4371:Kat6a UTSW 8 23,401,945 (GRCm39) missense possibly damaging 0.95
R4457:Kat6a UTSW 8 23,422,129 (GRCm39) critical splice acceptor site probably null
R4600:Kat6a UTSW 8 23,429,327 (GRCm39) missense probably benign 0.18
R4792:Kat6a UTSW 8 23,430,592 (GRCm39) missense unknown
R4896:Kat6a UTSW 8 23,428,329 (GRCm39) missense probably benign 0.07
R5069:Kat6a UTSW 8 23,393,149 (GRCm39) missense probably damaging 1.00
R5192:Kat6a UTSW 8 23,401,729 (GRCm39) missense probably damaging 0.99
R5196:Kat6a UTSW 8 23,401,729 (GRCm39) missense probably damaging 0.99
R5279:Kat6a UTSW 8 23,429,664 (GRCm39) small deletion probably benign
R5331:Kat6a UTSW 8 23,430,000 (GRCm39) missense unknown
R5480:Kat6a UTSW 8 23,428,323 (GRCm39) missense possibly damaging 0.77
R5659:Kat6a UTSW 8 23,428,176 (GRCm39) nonsense probably null
R5759:Kat6a UTSW 8 23,428,028 (GRCm39) missense probably benign 0.04
R5787:Kat6a UTSW 8 23,422,663 (GRCm39) missense probably damaging 0.99
R5892:Kat6a UTSW 8 23,428,305 (GRCm39) missense probably damaging 1.00
R5923:Kat6a UTSW 8 23,429,495 (GRCm39) missense probably benign 0.00
R6049:Kat6a UTSW 8 23,429,053 (GRCm39) missense possibly damaging 0.53
R6223:Kat6a UTSW 8 23,430,442 (GRCm39) missense unknown
R6276:Kat6a UTSW 8 23,429,421 (GRCm39) missense possibly damaging 0.96
R6279:Kat6a UTSW 8 23,429,628 (GRCm39) missense unknown
R6300:Kat6a UTSW 8 23,429,628 (GRCm39) missense unknown
R6307:Kat6a UTSW 8 23,430,384 (GRCm39) missense unknown
R6562:Kat6a UTSW 8 23,401,803 (GRCm39) missense probably benign 0.04
R6807:Kat6a UTSW 8 23,430,384 (GRCm39) missense unknown
R6852:Kat6a UTSW 8 23,428,676 (GRCm39) missense probably benign 0.18
R6875:Kat6a UTSW 8 23,422,377 (GRCm39) missense probably benign 0.02
R6895:Kat6a UTSW 8 23,425,799 (GRCm39) missense possibly damaging 0.88
R6913:Kat6a UTSW 8 23,393,215 (GRCm39) missense possibly damaging 0.53
R7047:Kat6a UTSW 8 23,428,554 (GRCm39) missense possibly damaging 0.53
R7235:Kat6a UTSW 8 23,404,285 (GRCm39) missense possibly damaging 0.94
R7243:Kat6a UTSW 8 23,428,791 (GRCm39) missense probably benign 0.00
R7454:Kat6a UTSW 8 23,425,788 (GRCm39) missense possibly damaging 0.56
R7618:Kat6a UTSW 8 23,352,578 (GRCm39) missense possibly damaging 0.95
R7768:Kat6a UTSW 8 23,393,228 (GRCm39) missense probably damaging 1.00
R7980:Kat6a UTSW 8 23,416,432 (GRCm39) missense possibly damaging 0.95
R8051:Kat6a UTSW 8 23,400,265 (GRCm39) missense probably damaging 0.99
R8408:Kat6a UTSW 8 23,352,275 (GRCm39) missense probably damaging 1.00
R8725:Kat6a UTSW 8 23,398,293 (GRCm39) missense probably damaging 1.00
R8743:Kat6a UTSW 8 23,429,022 (GRCm39) missense possibly damaging 0.85
R8904:Kat6a UTSW 8 23,428,824 (GRCm39) missense possibly damaging 0.85
R9014:Kat6a UTSW 8 23,430,087 (GRCm39) missense unknown
R9019:Kat6a UTSW 8 23,425,754 (GRCm39) missense probably damaging 0.98
R9091:Kat6a UTSW 8 23,420,190 (GRCm39) missense probably damaging 0.99
R9142:Kat6a UTSW 8 23,430,072 (GRCm39) missense unknown
R9229:Kat6a UTSW 8 23,429,987 (GRCm39) missense unknown
R9270:Kat6a UTSW 8 23,420,190 (GRCm39) missense probably damaging 0.99
R9367:Kat6a UTSW 8 23,400,156 (GRCm39) missense possibly damaging 0.76
R9421:Kat6a UTSW 8 23,398,322 (GRCm39) missense probably damaging 1.00
X0050:Kat6a UTSW 8 23,430,497 (GRCm39) nonsense probably null
Z1088:Kat6a UTSW 8 23,425,517 (GRCm39) nonsense probably null
Z1176:Kat6a UTSW 8 23,400,170 (GRCm39) missense probably damaging 1.00
Z1177:Kat6a UTSW 8 23,430,182 (GRCm39) missense unknown
Z1190:Kat6a UTSW 8 23,430,245 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- GCAGTGACATTAGAGCCATGTCCC -3'
(R):5'- TGTACAGTCTCCAGGTCCAGTTCG -3'

Sequencing Primer
(F):5'- ATTAGAGCCATGTCCCCATTGG -3'
(R):5'- CAGGTCCAGTTCGCTGTG -3'
Posted On 2014-03-14