Incidental Mutation 'R9367:Kat6a'
ID 709059
Institutional Source Beutler Lab
Gene Symbol Kat6a
Ensembl Gene ENSMUSG00000031540
Gene Name K(lysine) acetyltransferase 6A
Synonyms Zfp220, Myst3, MOZ, 9930021N24Rik
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9367 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 23349551-23433275 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 23400156 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 306 (I306L)
Ref Sequence ENSEMBL: ENSMUSP00000038181 (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: I306L

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000038181
Gene: ENSMUSG00000031540
AA Change: I306L

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: I306L

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000106324
Gene: ENSMUSG00000031540
AA Change: I306L

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2200002D01Rik CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC 7: 28,947,048 (GRCm39) probably benign Het
4930568D16Rik A T 2: 35,244,939 (GRCm39) Y138N probably benign Het
Abca4 T C 3: 121,838,197 (GRCm39) M1T probably null Het
Acer3 A G 7: 97,908,621 (GRCm39) V104A probably damaging Het
Agpat4 A G 17: 12,435,597 (GRCm39) E287G probably benign Het
Akip1 C T 7: 109,308,156 (GRCm39) A146V unknown Het
Ank2 T C 3: 126,738,678 (GRCm39) N2402S unknown Het
Arhgdig A T 17: 26,418,451 (GRCm39) Y177* probably null Het
Arhgef38 T A 3: 132,847,998 (GRCm39) T355S unknown Het
Atp8a2 C A 14: 60,249,827 (GRCm39) probably null Het
Atp8b4 A G 2: 126,216,430 (GRCm39) I672T probably damaging Het
Baat T A 4: 49,503,008 (GRCm39) D38V probably damaging Het
Bcl9 T C 3: 97,117,861 (GRCm39) S278G probably benign Het
Ccdc150 C T 1: 54,324,760 (GRCm39) L350F probably damaging Het
Ceacam20 T G 7: 19,705,533 (GRCm39) S175A probably damaging Het
Chd6 A T 2: 160,871,784 (GRCm39) I217K possibly damaging Het
Cnppd1 T C 1: 75,117,617 (GRCm39) I35V probably benign Het
Col15a1 T C 4: 47,245,603 (GRCm39) I118T probably damaging Het
Csmd3 A T 15: 47,567,564 (GRCm39) Y1289N Het
Dio2 T C 12: 90,696,587 (GRCm39) T134A probably benign Het
Dnaaf9 A T 2: 130,581,380 (GRCm39) N678K probably benign Het
Dnah17 A G 11: 117,987,464 (GRCm39) V1282A possibly damaging Het
Dnah17 A G 11: 118,012,212 (GRCm39) S517P possibly damaging Het
Dync2h1 C T 9: 7,125,730 (GRCm39) probably null Het
Echdc2 C A 4: 108,036,111 (GRCm39) P274Q probably damaging Het
Fam117a T A 11: 95,271,570 (GRCm39) C381S probably damaging Het
Fbxl12 A G 9: 20,550,130 (GRCm39) F122S probably damaging Het
Gen1 G A 12: 11,291,309 (GRCm39) Q892* probably null Het
Gimap4 A G 6: 48,667,746 (GRCm39) Y167C probably damaging Het
Gle1 T A 2: 29,839,014 (GRCm39) F476L probably damaging Het
Gpr135 A T 12: 72,117,473 (GRCm39) V98E possibly damaging Het
Greb1l A T 18: 10,522,130 (GRCm39) H742L probably benign Het
Habp2 G T 19: 56,304,781 (GRCm39) C392F probably damaging Het
Hapln3 G T 7: 78,771,455 (GRCm39) R145S probably damaging Het
Ikbkb A G 8: 23,171,711 (GRCm39) C179R probably damaging Het
Lmo3 A T 6: 138,342,958 (GRCm39) Y140* probably null Het
Lrrc32 T A 7: 98,148,937 (GRCm39) N572K probably damaging Het
Lrrn1 T A 6: 107,545,093 (GRCm39) M297K probably damaging Het
Magi2 G A 5: 20,766,308 (GRCm39) V676I probably damaging Het
Mdga1 T C 17: 30,051,282 (GRCm39) *957W probably null Het
Mip G T 10: 128,063,029 (GRCm39) G158V probably damaging Het
Mmp14 T C 14: 54,677,960 (GRCm39) I527T probably benign Het
Mmp27 G A 9: 7,573,550 (GRCm39) G188D probably damaging Het
Mylk4 A T 13: 32,960,236 (GRCm39) C17S possibly damaging Het
Naa50 T G 16: 43,977,554 (GRCm39) I94R probably damaging Het
Nyap1 A T 5: 137,734,248 (GRCm39) Y262N probably damaging Het
Obsl1 A G 1: 75,466,177 (GRCm39) V1517A probably benign Het
P4htm T A 9: 108,459,147 (GRCm39) M262L probably benign Het
Pappa2 T C 1: 158,784,542 (GRCm39) E156G probably benign Het
Pcdhb15 A T 18: 37,607,971 (GRCm39) Y401F possibly damaging Het
Pde2a G A 7: 101,160,361 (GRCm39) R845H probably damaging Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Penk C T 4: 4,134,097 (GRCm39) M183I probably benign Het
Pole T C 5: 110,444,955 (GRCm39) V437A probably damaging Het
Ppp1r7 T C 1: 93,279,262 (GRCm39) I114T probably damaging Het
Prr27 C A 5: 87,990,994 (GRCm39) P202Q probably benign Het
Pwp2 G A 10: 78,014,827 (GRCm39) Q386* probably null Het
Rad17 A T 13: 100,769,720 (GRCm39) S280T possibly damaging Het
Rhebl1 C T 15: 98,776,414 (GRCm39) E128K possibly damaging Het
Sema3e G T 5: 14,291,084 (GRCm39) V615L probably benign Het
Slc22a2 A T 17: 12,824,837 (GRCm39) Y233F probably benign Het
Ssu2 A G 6: 112,357,975 (GRCm39) S123P probably damaging Het
Stk10 A G 11: 32,538,878 (GRCm39) E239G Het
Surf6 G T 2: 26,782,380 (GRCm39) Q316K probably damaging Het
Tcerg1 G A 18: 42,685,573 (GRCm39) D637N possibly damaging Het
Tm7sf3 C T 6: 146,525,179 (GRCm39) D89N possibly damaging Het
Tnxb C A 17: 34,931,993 (GRCm39) F2175L probably damaging Het
Trp53i11 G C 2: 93,029,273 (GRCm39) V91L probably benign Het
Tspan9 A G 6: 127,944,102 (GRCm39) V66A probably damaging Het
Usp16 C T 16: 87,261,669 (GRCm39) T95M probably benign Het
Usp9y A T Y: 1,324,982 (GRCm39) F1691Y probably damaging Het
Uty A T Y: 1,099,584 (GRCm39) L1204I possibly damaging Het
Vmn1r192 A T 13: 22,371,800 (GRCm39) V140D possibly damaging Het
Vps54 T C 11: 21,250,234 (GRCm39) V552A probably benign Het
Vps8 T C 16: 21,340,668 (GRCm39) V804A possibly damaging Het
Zfp869 A C 8: 70,161,057 (GRCm39) L33R 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
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
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'- ATCATTGGCCACCTGCTTCG -3'
(R):5'- TGACTCCTACACTATAGAGATAGCC -3'

Sequencing Primer
(F):5'- CCACCTGCTTCGAGGGTGTATATG -3'
(R):5'- TCCTACACTATAGAGATAGCCTATCC -3'
Posted On 2022-04-18