Incidental Mutation 'IGL01364:Kat6a'
ID 75865
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kat6a
Ensembl Gene ENSMUSG00000031540
Gene Name K(lysine) acetyltransferase 6A
Synonyms Zfp220, Myst3, MOZ, 9930021N24Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01364
Quality Score
Status
Chromosome 8
Chromosomal Location 23349551-23433275 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 23397716 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Serine at position 255 (L255S)
Ref Sequence ENSEMBL: ENSMUSP00000106324 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044331] [ENSMUST00000110696]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000044331
AA Change: L255S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000038181
Gene: ENSMUSG00000031540
AA Change: L255S

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 damaging
Transcript: ENSMUST00000110696
AA Change: L255S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106324
Gene: ENSMUSG00000031540
AA Change: L255S

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
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco1 C A 4: 40,181,380 (GRCm39) probably null Het
Acot6 T C 12: 84,147,840 (GRCm39) V32A possibly damaging Het
Aff3 A T 1: 38,574,762 (GRCm39) L73I probably damaging Het
Aldh1l2 C A 10: 83,328,531 (GRCm39) D729Y probably damaging Het
Alox15 T C 11: 70,235,992 (GRCm39) Q525R possibly damaging Het
Atr T C 9: 95,747,677 (GRCm39) Y320H probably benign Het
Atxn3 C T 12: 101,900,682 (GRCm39) probably benign Het
Caprin2 C A 6: 148,774,526 (GRCm39) S262I probably benign Het
Ccar1 T C 10: 62,612,653 (GRCm39) probably null Het
Ccdc14 T A 16: 34,543,583 (GRCm39) L647H probably damaging Het
Cd300lf T C 11: 115,017,176 (GRCm39) D49G probably benign Het
Csmd2 A G 4: 128,308,081 (GRCm39) T1280A probably benign Het
Ddb1 T C 19: 10,605,024 (GRCm39) probably null Het
Dnah9 A G 11: 66,046,285 (GRCm39) Y88H probably damaging Het
Enpp1 T C 10: 24,540,512 (GRCm39) T351A probably damaging Het
Evi2b T A 11: 79,407,449 (GRCm39) Y42F probably benign Het
Fdps A T 3: 89,001,577 (GRCm39) C274* probably null Het
Flnb A C 14: 7,934,562 (GRCm38) probably null Het
Herc1 T A 9: 66,306,643 (GRCm39) V917E probably benign Het
Hmcn2 C T 2: 31,251,826 (GRCm39) Q854* probably null Het
Hmgxb3 T C 18: 61,279,506 (GRCm39) Y769C probably damaging Het
Hps3 G T 3: 20,057,469 (GRCm39) Q772K possibly damaging Het
Ifnab T C 4: 88,608,987 (GRCm39) S160G probably damaging Het
Kalrn T C 16: 34,082,999 (GRCm39) E652G probably damaging Het
Kbtbd7 T A 14: 79,665,486 (GRCm39) D439E possibly damaging Het
Kcnn4 T C 7: 24,081,128 (GRCm39) F289L probably benign Het
Mapk6 A C 9: 75,296,072 (GRCm39) D475E possibly damaging Het
Msh5 A G 17: 35,247,745 (GRCm39) V825A possibly damaging Het
Mst1 A G 9: 107,958,800 (GRCm39) I111V probably benign Het
Myo1h T A 5: 114,486,500 (GRCm39) I586N probably damaging Het
Or4k36 G T 2: 111,146,015 (GRCm39) A64S probably damaging Het
Panx1 C T 9: 14,932,761 (GRCm39) V80M probably damaging Het
Polr3b T A 10: 84,531,533 (GRCm39) I803N probably benign Het
Rasa4 T C 5: 136,124,425 (GRCm39) V158A possibly damaging Het
Rbp3 T A 14: 33,676,145 (GRCm39) M31K possibly damaging Het
Rpl3l A G 17: 24,951,404 (GRCm39) K154E probably benign Het
Sec24a A T 11: 51,604,356 (GRCm39) probably null Het
Sox5 C T 6: 144,062,198 (GRCm39) M151I probably damaging Het
Sun1 T A 5: 139,220,496 (GRCm39) L290Q probably damaging Het
Tm9sf2 T A 14: 122,380,872 (GRCm39) I155N probably damaging Het
Trmt9b A G 8: 36,979,501 (GRCm39) K368R probably benign Het
Tuft1 A G 3: 94,542,810 (GRCm39) probably benign Het
Ubash3b A G 9: 40,929,311 (GRCm39) probably null Het
Vwa1 A G 4: 155,855,200 (GRCm39) probably null Het
Wnk1 T C 6: 119,914,372 (GRCm39) E80G probably damaging Het
Xpot C A 10: 121,440,399 (GRCm39) A611S 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
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
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
Posted On 2013-10-07