Incidental Mutation 'R2059:Kat6a'
ID 228474
Institutional Source Beutler Lab
Gene Symbol Kat6a
Ensembl Gene ENSMUSG00000031540
Gene Name K(lysine) acetyltransferase 6A
Synonyms Zfp220, Myst3, MOZ, 9930021N24Rik
MMRRC Submission 040064-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2059 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 23349551-23433275 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 23429321 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 1559 (N1559D)
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: N1559D

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000038181
Gene: ENSMUSG00000031540
AA Change: N1559D

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: N1559D

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000106324
Gene: ENSMUSG00000031540
AA Change: N1559D

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 0.1253 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 99% (99/100)
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: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf3 G A 5: 30,404,489 (GRCm39) H316Y possibly damaging Het
Adgrf5 A G 17: 43,739,477 (GRCm39) Y72C possibly damaging Het
Ak5 T A 3: 152,366,274 (GRCm39) L42F probably damaging Het
Alas1 T C 9: 106,118,489 (GRCm39) E211G probably damaging Het
Alkbh1 C T 12: 87,490,520 (GRCm39) probably benign Het
Als2cl T C 9: 110,714,506 (GRCm39) V118A probably benign Het
Ano1 G C 7: 144,165,127 (GRCm39) L641V probably damaging Het
Arfgef1 C T 1: 10,258,977 (GRCm39) probably null Het
Atf6b A T 17: 34,867,549 (GRCm39) probably null Het
Atf7ip T G 6: 136,586,346 (GRCm39) probably benign Het
Atp2b4 G T 1: 133,654,275 (GRCm39) Q777K probably benign Het
Baz2a T A 10: 127,949,447 (GRCm39) S347R probably damaging Het
C2cd3 T C 7: 100,104,700 (GRCm39) probably benign Het
Cage1 A G 13: 38,207,356 (GRCm39) V163A probably benign Het
Cdh12 T A 15: 21,583,826 (GRCm39) N555K probably benign Het
Cenpj G A 14: 56,801,412 (GRCm39) P187L possibly damaging Het
Cep112 T A 11: 108,410,087 (GRCm39) probably null Het
Cfap54 A T 10: 92,778,841 (GRCm39) probably benign Het
Cgref1 T G 5: 31,090,989 (GRCm39) D275A possibly damaging Het
Clgn A C 8: 84,126,607 (GRCm39) N103H probably benign Het
Corin A G 5: 72,473,394 (GRCm39) V905A possibly damaging Het
Csta1 A C 16: 35,942,692 (GRCm39) D72E probably benign Het
Cul5 A T 9: 53,578,456 (GRCm39) L44Q probably damaging Het
Dmbt1 G A 7: 130,707,900 (GRCm39) A1381T possibly damaging Het
Dync1i2 G A 2: 71,080,197 (GRCm39) probably null Het
Enoph1 A G 5: 100,207,078 (GRCm39) D55G probably damaging Het
Fat4 T A 3: 38,945,319 (GRCm39) M1404K possibly damaging Het
Fhip2b A G 14: 70,822,489 (GRCm39) V744A possibly damaging Het
Foxi2 G T 7: 135,012,406 (GRCm39) G98V probably damaging Het
Galr2 T C 11: 116,173,765 (GRCm39) S132P probably damaging Het
Gcm2 T C 13: 41,263,430 (GRCm39) M1V probably null Het
Gm15446 C T 5: 110,090,362 (GRCm39) H205Y probably damaging Het
Gm21775 T A Y: 10,553,910 (GRCm39) I153N probably benign Het
Grip1 A G 10: 119,874,603 (GRCm39) K789R possibly damaging Het
Gsk3b T A 16: 38,008,271 (GRCm39) D192E probably benign Het
Herc2 T A 7: 55,813,645 (GRCm39) H2625Q probably damaging Het
Hoxc9 A G 15: 102,892,555 (GRCm39) D256G probably benign Het
Il7 A T 3: 7,638,975 (GRCm39) N130K probably damaging Het
Irf2 A T 8: 47,260,380 (GRCm39) N104I probably damaging Het
Kcnq4 G T 4: 120,555,199 (GRCm39) F661L probably benign Het
Kdm5b T A 1: 134,540,952 (GRCm39) D681E probably benign Het
Khdrbs1 T C 4: 129,619,514 (GRCm39) E209G probably damaging Het
Lama3 A T 18: 12,661,390 (GRCm39) R2116S probably damaging Het
Mir124-2hg C A 3: 17,839,877 (GRCm39) E65* probably null Het
Mphosph10 T A 7: 64,026,499 (GRCm39) L650F probably damaging Het
Mrpl48 T C 7: 100,198,540 (GRCm39) E204G probably damaging Het
Msl3l2 T A 10: 55,992,040 (GRCm39) L255Q probably damaging Het
Mx1 T A 16: 97,255,379 (GRCm39) K225* probably null Het
Nf1 T C 11: 79,447,549 (GRCm39) V435A probably damaging Het
Nid1 A C 13: 13,675,058 (GRCm39) H926P probably benign Het
Nlrp9a T A 7: 26,256,787 (GRCm39) I46K possibly damaging Het
Nop2 T A 6: 125,116,823 (GRCm39) M359K probably null Het
Nox1 T C X: 132,995,993 (GRCm39) probably benign Het
Ogdhl G A 14: 32,054,841 (GRCm39) R263K probably damaging Het
Or14c40 A T 7: 86,313,591 (GRCm39) K240N probably damaging Het
Or2y16 T A 11: 49,335,278 (GRCm39) V200E probably damaging Het
Pbsn T C X: 76,891,582 (GRCm39) K72E probably damaging Het
Pde12 T C 14: 26,390,035 (GRCm39) I225V probably benign Het
Ppt2 A T 17: 34,841,818 (GRCm39) probably benign Het
Prl3a1 A G 13: 27,454,127 (GRCm39) D35G probably benign Het
Prss3b G A 6: 41,009,315 (GRCm39) T173I probably benign Het
Ptprk T A 10: 28,442,599 (GRCm39) I893N probably damaging Het
Ptprz1 T C 6: 22,986,322 (GRCm39) probably benign Het
Rab3c A G 13: 110,397,050 (GRCm39) V72A probably damaging Het
Rbms2 A G 10: 127,973,387 (GRCm39) S251P probably benign Het
Rfwd3 A G 8: 112,024,127 (GRCm39) V65A probably benign Het
Rps6kl1 T A 12: 85,186,397 (GRCm39) Y211F probably benign Het
Saal1 T C 7: 46,348,880 (GRCm39) Q317R probably damaging Het
Scg3 T C 9: 75,572,998 (GRCm39) D311G probably damaging Het
Sdk2 C A 11: 113,745,158 (GRCm39) M712I probably damaging Het
Serinc2 T G 4: 130,154,578 (GRCm39) Y158S probably damaging Het
Serpinb9c A T 13: 33,340,854 (GRCm39) C81* probably null Het
Sgpp2 T A 1: 78,393,588 (GRCm39) L197Q probably damaging Het
Shroom3 A T 5: 92,831,643 (GRCm39) T40S probably damaging Het
Sik1 A G 17: 32,067,771 (GRCm39) S435P probably benign Het
Slc7a3 A G X: 100,124,373 (GRCm39) V464A probably benign Het
Snd1 T C 6: 28,745,206 (GRCm39) F517S probably damaging Het
Spata13 A C 14: 60,997,040 (GRCm39) I1165L possibly damaging Het
St8sia5 A T 18: 77,342,459 (GRCm39) I390F probably damaging Het
Stat5b A T 11: 100,678,158 (GRCm39) S652T probably benign Het
Stom A G 2: 35,206,037 (GRCm39) S231P probably damaging Het
Sult1b1 A G 5: 87,682,892 (GRCm39) Y18H probably damaging Het
Tgm4 T C 9: 122,890,835 (GRCm39) I54T probably damaging Het
Tmem176b G A 6: 48,813,267 (GRCm39) T64I probably damaging Het
Tmem87a A T 2: 120,199,773 (GRCm39) I457N probably damaging Het
Trim12c A G 7: 103,997,398 (GRCm39) F53L possibly damaging Het
Ttc6 T A 12: 57,784,479 (GRCm39) D1849E probably benign Het
Ubap2l A T 3: 89,938,683 (GRCm39) probably benign Het
Ush2a T G 1: 188,113,746 (GRCm39) probably null Het
Usp17la A C 7: 104,510,378 (GRCm39) T328P probably damaging Het
Ust A G 10: 8,083,330 (GRCm39) Y349H probably damaging Het
V1rd19 A T 7: 23,703,259 (GRCm39) M242L probably benign Het
Vmn1r33 T A 6: 66,589,186 (GRCm39) M123L probably benign Het
Vps13c A T 9: 67,768,115 (GRCm39) K111N probably damaging Het
Vwa3a A G 7: 120,358,172 (GRCm39) D81G probably damaging Het
Zfp318 G A 17: 46,707,950 (GRCm39) R336Q probably damaging Het
Zfp609 A G 9: 65,611,716 (GRCm39) S416P possibly 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
R1457:Kat6a UTSW 8 23,428,668 (GRCm39) missense probably benign
R1753:Kat6a UTSW 8 23,425,813 (GRCm39) missense probably benign 0.09
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'- TGGCTACACACAGATCAGC -3'
(R):5'- TTTCCACCACACAAGTCTGCG -3'

Sequencing Primer
(F):5'- CCCAGAGCAAGGATCCCTGTC -3'
(R):5'- ACACAAGTCTGCGGTGAC -3'
Posted On 2014-09-17