Incidental Mutation 'R5659:Kat6a'
ID 443981
Institutional Source Beutler Lab
Gene Symbol Kat6a
Ensembl Gene ENSMUSG00000031540
Gene Name K(lysine) acetyltransferase 6A
Synonyms Zfp220, Myst3, MOZ, 9930021N24Rik
MMRRC Submission 043303-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5659 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 23349551-23433275 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 23428176 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 1177 (L1177*)
Ref Sequence ENSEMBL: ENSMUSP00000106324 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044331] [ENSMUST00000110696]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000044331
AA Change: L1177*
SMART Domains Protein: ENSMUSP00000038181
Gene: ENSMUSG00000031540
AA Change: L1177*

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 null
Transcript: ENSMUST00000110696
AA Change: L1177*
SMART Domains Protein: ENSMUSP00000106324
Gene: ENSMUSG00000031540
AA Change: L1177*

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: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.7%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankhd1 T C 18: 36,694,103 (GRCm39) S105P probably damaging Het
Ano5 G A 7: 51,233,562 (GRCm39) R658H possibly damaging Het
Ap3b2 T A 7: 81,126,500 (GRCm39) I367F probably damaging Het
Apaf1 A T 10: 90,898,015 (GRCm39) C247* probably null Het
Aqp8 G A 7: 123,065,889 (GRCm39) W228* probably null Het
Arhgap32 T A 9: 32,093,256 (GRCm39) V178D probably damaging Het
Atp10b T A 11: 43,136,252 (GRCm39) W1127R probably damaging Het
Bcl6 A T 16: 23,787,159 (GRCm39) C580* probably null Het
Brd1 T C 15: 88,597,584 (GRCm39) T568A probably benign Het
Brsk1 C T 7: 4,718,371 (GRCm39) P665L possibly damaging Het
Cblc A G 7: 19,526,857 (GRCm39) L125P probably damaging Het
Ccdc87 T C 19: 4,890,878 (GRCm39) S457P probably damaging Het
Cxcr5 C T 9: 44,424,690 (GRCm39) M322I probably benign Het
Cyb5r4 T A 9: 86,937,881 (GRCm39) F300Y probably benign Het
Cyp3a25 T C 5: 145,928,356 (GRCm39) T230A possibly damaging Het
Dhx9 A G 1: 153,347,481 (GRCm39) V409A probably damaging Het
Dnah7b A G 1: 46,392,009 (GRCm39) D3790G probably damaging Het
Gin1 A G 1: 97,703,257 (GRCm39) T27A possibly damaging Het
Gipc1 A T 8: 84,390,755 (GRCm39) M287L probably benign Het
Klhl20 A G 1: 160,918,040 (GRCm39) V82A probably damaging Het
Kmt2e T C 5: 23,702,805 (GRCm39) I995T probably damaging Het
Lpin1 A T 12: 16,590,990 (GRCm39) V814E probably damaging Het
Luzp1 T A 4: 136,269,787 (GRCm39) V670D probably damaging Het
Lyst C A 13: 13,809,212 (GRCm39) A294E possibly damaging Het
Olr1 T A 6: 129,476,992 (GRCm39) E91V probably damaging Het
Or1j1 A T 2: 36,702,966 (GRCm39) I46N probably damaging Het
Or2k2 A T 4: 58,785,672 (GRCm39) F17I probably damaging Het
Or8b55 C T 9: 38,727,072 (GRCm39) T91I probably benign Het
Pam T C 1: 97,770,024 (GRCm39) Y476C probably damaging Het
Pcdhac1 T C 18: 37,225,470 (GRCm39) L761P probably damaging Het
Phf21b C T 15: 84,678,101 (GRCm39) W300* probably null Het
Pld2 T C 11: 70,448,387 (GRCm39) *945Q probably null Het
Ppp1r37 C T 7: 19,269,448 (GRCm39) V145M probably damaging Het
Rasgrf1 T A 9: 89,866,342 (GRCm39) N593K probably damaging Het
Rhot1 T G 11: 80,141,181 (GRCm39) probably null Het
Rmnd1 A T 10: 4,377,382 (GRCm39) M99K probably benign Het
Ros1 G A 10: 52,019,482 (GRCm39) T697I possibly damaging Het
Scgb1b10 G T 7: 31,800,303 (GRCm39) A4S probably benign Het
Shc3 T C 13: 51,670,630 (GRCm39) Y39C probably damaging Het
Slc25a23 A G 17: 57,352,500 (GRCm39) probably benign Het
Slc5a8 C T 10: 88,755,290 (GRCm39) L466F possibly damaging Het
Sqor G A 2: 122,629,523 (GRCm39) C127Y probably benign Het
Sv2a G C 3: 96,097,619 (GRCm39) W467S possibly damaging Het
Togaram2 G T 17: 71,994,667 (GRCm39) D39Y probably damaging Het
Tspan11 T A 6: 127,915,240 (GRCm39) probably null Het
Usp32 A G 11: 84,968,240 (GRCm39) V141A possibly damaging Het
Zbtb38 T C 9: 96,569,473 (GRCm39) H537R probably damaging Het
Zfat T C 15: 67,990,862 (GRCm39) Y1008C probably damaging Het
Zfp637 G A 6: 117,820,291 (GRCm39) G3E probably damaging Het
Zfp788 T A 7: 41,299,540 (GRCm39) Y673* probably null Het
Zhx2 T C 15: 57,685,704 (GRCm39) S358P 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
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'- CTCCTGTCCTAAAGCCAGTATC -3'
(R):5'- CTGTTGCTGCTGTCCAATGG -3'

Sequencing Primer
(F):5'- GCCAGTATCTCTCTTGCGAAAATGTG -3'
(R):5'- ACATGGCTCTAATGTCACTGCTGG -3'
Posted On 2016-11-09