Incidental Mutation 'R6562:Kat6a'
ID 522465
Institutional Source Beutler Lab
Gene Symbol Kat6a
Ensembl Gene ENSMUSG00000031540
Gene Name K(lysine) acetyltransferase 6A
Synonyms Zfp220, Myst3, MOZ, 9930021N24Rik
MMRRC Submission 044686-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6562 (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 C at 23401803 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 391 (F391L)
Ref Sequence ENSEMBL: ENSMUSP00000106324 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044331] [ENSMUST00000110696]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000044331
AA Change: F391L

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000038181
Gene: ENSMUSG00000031540
AA Change: F391L

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 benign
Transcript: ENSMUST00000110696
AA Change: F391L

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000106324
Gene: ENSMUSG00000031540
AA Change: F391L

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130718
Meta Mutation Damage Score 0.0611 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.9%
Validation Efficiency 100% (60/60)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933434E20Rik A G 3: 89,970,543 (GRCm39) K26E probably benign Het
Abt1 T G 13: 23,607,758 (GRCm39) E82A probably damaging Het
Actr8 A G 14: 29,708,411 (GRCm39) probably null Het
Akap12 G T 10: 4,306,141 (GRCm39) E984* probably null Het
Ankrd13a C A 5: 114,942,453 (GRCm39) probably benign Het
Ankrd13c T A 3: 157,705,309 (GRCm39) S411T probably damaging Het
Arhgef28 A G 13: 98,124,647 (GRCm39) probably null Het
Arhgef3 A T 14: 26,874,953 (GRCm39) probably benign Het
Atad5 T C 11: 80,024,032 (GRCm39) S1712P probably benign Het
Bbs12 A G 3: 37,374,389 (GRCm39) E394G probably damaging Het
Ccdc158 T G 5: 92,810,581 (GRCm39) K102N probably damaging Het
Ccdc169 A G 3: 55,058,235 (GRCm39) N89S probably damaging Het
Cd200l1 C T 16: 45,264,442 (GRCm39) E39K probably benign Het
Cenpu T C 8: 47,025,858 (GRCm39) I132T possibly damaging Het
Cnrip1 G A 11: 17,028,539 (GRCm39) W157* probably null Het
Ctnnd1 A G 2: 84,454,652 (GRCm39) S53P probably benign Het
Dcpp3 AGGCCATGCTGGCC AGGCC 17: 24,136,572 (GRCm39) probably benign Het
Dock7 A T 4: 98,879,647 (GRCm39) V969D probably damaging Het
Ehd2 C A 7: 15,691,492 (GRCm39) R280L probably benign Het
Entpd5 T C 12: 84,432,974 (GRCm39) T218A probably damaging Het
Fcrl2 A C 3: 87,164,635 (GRCm39) I297S probably benign Het
Frmpd2 T A 14: 33,293,872 (GRCm39) L1346Q probably benign Het
Fry T C 5: 150,249,614 (GRCm39) S142P probably damaging Het
Gbgt1 A T 2: 28,394,898 (GRCm39) I179F probably damaging Het
Gm17067 A T 7: 42,358,153 (GRCm39) S116R probably damaging Het
Gm5565 G T 5: 146,094,964 (GRCm39) P261T probably damaging Het
Kcnmb4 A T 10: 116,309,089 (GRCm39) probably null Het
Krt6a T A 15: 101,600,094 (GRCm39) H386L probably benign Het
L3mbtl1 C T 2: 162,812,124 (GRCm39) T723I probably benign Het
Lamb2 A T 9: 108,364,207 (GRCm39) R1049W possibly damaging Het
Lrmda T C 14: 22,648,254 (GRCm39) probably benign Het
Lysmd2 C T 9: 75,542,691 (GRCm39) T95I unknown Het
Ndst3 A G 3: 123,346,181 (GRCm39) S698P probably damaging Het
Nin T C 12: 70,102,728 (GRCm39) D300G probably damaging Het
Nutf2 G T 8: 106,602,258 (GRCm39) D23Y probably benign Het
Or6c211 G A 10: 129,506,008 (GRCm39) P127S probably damaging Het
Ovgp1 A G 3: 105,887,589 (GRCm39) Y300C probably damaging Het
Pgghg A G 7: 140,526,506 (GRCm39) I633V probably benign Het
Pik3r3 C T 4: 116,157,006 (GRCm39) Q496* probably null Het
Pkn3 G T 2: 29,970,699 (GRCm39) probably null Het
Plin2 A T 4: 86,576,832 (GRCm39) S298T probably benign Het
Prdm8 T C 5: 98,331,202 (GRCm39) V18A possibly damaging Het
Rel C A 11: 23,707,026 (GRCm39) G59* probably null Het
Siglecg A G 7: 43,058,481 (GRCm39) R123G possibly damaging Het
Slc13a1 T A 6: 24,150,792 (GRCm39) I49F probably benign Het
Slc39a10 T A 1: 46,874,724 (GRCm39) T193S probably benign Het
Slc9a3 T A 13: 74,303,280 (GRCm39) V191E probably damaging Het
Spata31e2 T A 1: 26,721,443 (GRCm39) T1246S possibly damaging Het
Sult2b1 A C 7: 45,391,670 (GRCm39) S39A probably benign Het
Tead1 A G 7: 112,460,650 (GRCm39) T185A probably benign Het
Tmem67 A G 4: 12,053,445 (GRCm39) probably null Het
Trim12c A T 7: 103,994,341 (GRCm39) probably null Het
Trpm6 T A 19: 18,815,406 (GRCm39) F1164Y probably damaging Het
Ube2d1 C T 10: 71,098,071 (GRCm39) D16N probably benign Het
Vmn2r24 A T 6: 123,757,386 (GRCm39) I85F probably benign Het
Vwde T A 6: 13,193,122 (GRCm39) N406Y possibly damaging Het
Wdr54 A T 6: 83,132,050 (GRCm39) probably null Het
Zcchc14 A T 8: 122,330,842 (GRCm39) N840K probably damaging Het
Zfp451 C A 1: 33,801,260 (GRCm39) S1052I 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
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
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'- CTGTAAGCTAGGCTTCCTGGAG -3'
(R):5'- GAAGTACTTGATTTCCTGTTGCCC -3'

Sequencing Primer
(F):5'- GCTATATAGACCAGGCTTGCCTG -3'
(R):5'- CTTTTTCCTGATTCTGTATTGCTCAG -3'
Posted On 2018-06-06