Incidental Mutation 'R6049:Kat6a'
ID 483449
Institutional Source Beutler Lab
Gene Symbol Kat6a
Ensembl Gene ENSMUSG00000031540
Gene Name K(lysine) acetyltransferase 6A
Synonyms Zfp220, Myst3, MOZ, 9930021N24Rik
MMRRC Submission 044217-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6049 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 23349551-23433275 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 23429053 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 1469 (H1469Q)
Ref Sequence ENSEMBL: ENSMUSP00000106324 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044331] [ENSMUST00000110696]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000044331
AA Change: H1469Q

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000038181
Gene: ENSMUSG00000031540
AA Change: H1469Q

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 possibly damaging
Transcript: ENSMUST00000110696
AA Change: H1469Q

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000106324
Gene: ENSMUSG00000031540
AA Change: H1469Q

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
Meta Mutation Damage Score 0.0805 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.3%
Validation Efficiency 98% (60/61)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik G A 4: 103,088,520 (GRCm39) H229Y probably benign Het
Aadacl2fm2 A C 3: 59,659,570 (GRCm39) D341A probably damaging Het
Abcd2 A G 15: 91,062,439 (GRCm39) F500L probably benign Het
Adgb A G 10: 10,253,770 (GRCm39) L1190P probably damaging Het
Adgrv1 A G 13: 81,545,473 (GRCm39) V5604A probably benign Het
Ank2 T A 3: 126,736,669 (GRCm39) T3072S possibly damaging Het
Arhgap39 A G 15: 76,611,601 (GRCm39) probably null Het
C6 T C 15: 4,764,654 (GRCm39) C117R probably damaging Het
Cacna1a A G 8: 85,365,475 (GRCm39) E2206G probably damaging Het
Cd2bp2 A T 7: 126,793,007 (GRCm39) F338L probably damaging Het
Cemip2 A T 19: 21,803,490 (GRCm39) Q841L probably benign Het
Cngb1 T C 8: 95,997,470 (GRCm39) D575G probably damaging Het
Cplane2 T A 4: 140,945,473 (GRCm39) V108D probably benign Het
Crat A G 2: 30,293,553 (GRCm39) F63S probably damaging Het
Crybg3 T C 16: 59,364,417 (GRCm39) T2402A probably benign Het
Ctsq A G 13: 61,186,572 (GRCm39) probably null Het
Cux1 T C 5: 136,361,564 (GRCm39) R248G probably damaging Het
D7Ertd443e T C 7: 133,899,961 (GRCm39) H420R probably benign Het
Deup1 A G 9: 15,472,552 (GRCm39) F587L possibly damaging Het
Dnah6 T C 6: 73,063,149 (GRCm39) K2651R probably benign Het
Dnah7b A G 1: 46,124,762 (GRCm39) I144V probably benign Het
Dnajc1 T C 2: 18,236,511 (GRCm39) probably null Het
Fscb T C 12: 64,521,094 (GRCm39) N124S possibly damaging Het
Gabbr2 A G 4: 46,787,641 (GRCm39) Y341H probably damaging Het
Greb1 T A 12: 16,731,395 (GRCm39) I1648F probably damaging Het
Hace1 A T 10: 45,562,758 (GRCm39) N758Y probably damaging Het
Irs2 A C 8: 11,056,805 (GRCm39) D542E probably benign Het
Kif15 G A 9: 122,840,687 (GRCm39) R36K probably damaging Het
Krt42 C T 11: 100,157,886 (GRCm39) V193M probably damaging Het
Limch1 A T 5: 67,188,203 (GRCm39) E878V probably benign Het
Med18 G T 4: 132,187,024 (GRCm39) D158E probably benign Het
Med6 T C 12: 81,638,097 (GRCm39) N38S probably damaging Het
Mup13 T C 4: 61,183,596 (GRCm39) T76A probably benign Het
Nlrp4b T A 7: 10,448,640 (GRCm39) L281* probably null Het
Or5h23 A T 16: 58,906,509 (GRCm39) C112* probably null Het
Or7g28 C A 9: 19,272,640 (GRCm39) G4* probably null Het
Or9r3 A T 10: 129,948,481 (GRCm39) H59Q probably benign Het
Pde4d A T 13: 109,169,119 (GRCm39) R54* probably null Het
Pdpk1 A T 17: 24,317,109 (GRCm39) Y251* probably null Het
Pdzk1 A G 3: 96,758,979 (GRCm39) E128G probably benign Het
Phf12 A G 11: 77,918,996 (GRCm39) probably null Het
Pnliprp2 A G 19: 58,748,884 (GRCm39) E63G possibly damaging Het
Prkcd T C 14: 30,329,254 (GRCm39) E62G possibly damaging Het
Prl7b1 G T 13: 27,790,161 (GRCm39) D77E probably benign Het
Rbck1 G T 2: 152,165,094 (GRCm39) C85* probably null Het
Rfx3 A T 19: 27,779,795 (GRCm39) M481K probably damaging Het
Rmdn3 A G 2: 118,983,906 (GRCm39) F159L probably damaging Het
Rpusd3 A C 6: 113,394,802 (GRCm39) probably null Het
Ska1 T C 18: 74,335,671 (GRCm39) T100A probably benign Het
Slc1a3 T C 15: 8,675,177 (GRCm39) E276G probably damaging Het
Slc27a6 T A 18: 58,731,732 (GRCm39) Y361N probably damaging Het
Smc1b A G 15: 85,005,896 (GRCm39) L336S probably damaging Het
St7 A G 6: 17,694,347 (GRCm39) D46G possibly damaging Het
Supt5 A G 7: 28,014,622 (GRCm39) I1059T probably benign Het
Syne1 A T 10: 5,297,926 (GRCm39) S1124T possibly damaging Het
Szt2 A G 4: 118,260,185 (GRCm39) S54P probably damaging Het
Tanc2 G A 11: 105,758,543 (GRCm39) R768Q probably damaging Het
Tbc1d7 A C 13: 43,312,836 (GRCm39) M19R probably damaging Het
Tbpl2 T C 2: 23,985,004 (GRCm39) N47D possibly damaging Het
Tgfbr3 C T 5: 107,266,351 (GRCm39) A790T probably damaging Het
Tnr T C 1: 159,740,324 (GRCm39) V1166A probably damaging Het
Ttn G A 2: 76,676,654 (GRCm39) probably benign 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
R1457:Kat6a UTSW 8 23,428,668 (GRCm39) missense probably benign
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
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'- ACTGGACCTGGAGACTGTAC -3'
(R):5'- AGATCACTGAAGCCGCTGTC -3'

Sequencing Primer
(F):5'- CAGGCAGTGCAATCTTTGAC -3'
(R):5'- CACCTGCTGAGAGTGGTCTGATAC -3'
Posted On 2017-07-14