Incidental Mutation 'R6875:Kat6a'
ID 536379
Institutional Source Beutler Lab
Gene Symbol Kat6a
Ensembl Gene ENSMUSG00000031540
Gene Name K(lysine) acetyltransferase 6A
Synonyms Zfp220, MOZ, 9930021N24Rik, Myst3
MMRRC Submission 044971-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6875 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 22859535-22943259 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 22932361 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 896 (A896T)
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: A896T

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000038181
Gene: ENSMUSG00000031540
AA Change: A896T

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: A896T

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000106324
Gene: ENSMUSG00000031540
AA Change: A896T

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 0.0593 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
Validation Efficiency 98% (58/59)
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
6030458C11Rik T C 15: 12,812,068 (GRCm38) H270R probably damaging Het
Abcb1a T C 5: 8,701,628 (GRCm38) I336T probably benign Het
Adam19 T A 11: 46,112,875 (GRCm38) F177I probably benign Het
Ankrd53 T C 6: 83,768,173 (GRCm38) V455A probably damaging Het
Arrdc1 A G 2: 24,925,665 (GRCm38) S415P probably benign Het
Atp10a T C 7: 58,797,352 (GRCm38) L614P probably benign Het
C130060K24Rik A T 6: 65,456,336 (GRCm38) N380I probably benign Het
Catsper1 G T 19: 5,343,963 (GRCm38) V668F probably damaging Het
Cluh T A 11: 74,661,918 (GRCm38) D596E probably damaging Het
Cnot10 A G 9: 114,615,107 (GRCm38) S407P probably benign Het
Commd6 T C 14: 101,634,350 (GRCm38) T86A probably damaging Het
D5Ertd579e A T 5: 36,604,657 (GRCm38) probably null Het
Eif3l A G 15: 79,085,560 (GRCm38) D252G probably damaging Het
Epha2 A T 4: 141,328,468 (GRCm38) S962C probably damaging Het
Fcho1 C A 8: 71,714,425 (GRCm38) probably null Het
Fgf23 G T 6: 127,073,216 (GRCm38) G63C probably damaging Het
Flnc A T 6: 29,445,749 (GRCm38) Y834F probably damaging Het
Gcn1l1 T C 5: 115,588,110 (GRCm38) L608P probably damaging Het
Hdac5 T A 11: 102,202,276 (GRCm38) E545V probably damaging Het
Hecw2 A T 1: 53,937,132 (GRCm38) M166K probably benign Het
Ikbkb T C 8: 22,665,893 (GRCm38) D586G probably damaging Het
Il1f9 G C 2: 24,188,621 (GRCm38) probably null Het
Ipo13 A T 4: 117,904,911 (GRCm38) I422N possibly damaging Het
Iqgap3 GGAGAG GGAG 3: 88,112,771 (GRCm38) probably null Het
Kif28 A G 1: 179,735,994 (GRCm38) I139T probably damaging Het
Klhl25 A G 7: 75,866,342 (GRCm38) E332G probably damaging Het
Krt8 C T 15: 101,997,908 (GRCm38) A389T probably benign Het
Msrb3 T C 10: 120,784,106 (GRCm38) S175G probably benign Het
Muc5ac C T 7: 141,809,744 (GRCm38) probably benign Het
Myo10 T C 15: 25,805,659 (GRCm38) Y1709H probably benign Het
Nckap5 A G 1: 126,023,194 (GRCm38) S1519P probably benign Het
Npnt T A 3: 132,909,910 (GRCm38) D124V probably damaging Het
Nr1d1 A T 11: 98,770,836 (GRCm38) probably null Het
Ogdh A G 11: 6,340,477 (GRCm38) Y365C probably benign Het
Olfr1305 A T 2: 111,872,961 (GRCm38) I298N possibly damaging Het
Phf21b A T 15: 84,787,446 (GRCm38) C416S probably damaging Het
Prpsap1 A G 11: 116,471,438 (GRCm38) S373P probably damaging Het
Rab28 T C 5: 41,703,534 (GRCm38) T26A probably damaging Het
Rbbp8nl A G 2: 180,279,226 (GRCm38) I455T probably benign Het
Rnft2 G A 5: 118,228,818 (GRCm38) A285V possibly damaging Het
Rrp36 G T 17: 46,672,371 (GRCm38) Q106K probably benign Het
Rsf1 CG CGACGGCGGAG 7: 97,579,908 (GRCm38) probably benign Het
Runx2 G A 17: 44,814,192 (GRCm38) P80L probably damaging Het
Scn5a A G 9: 119,486,644 (GRCm38) L1666P probably damaging Het
Siglecf A C 7: 43,355,200 (GRCm38) T318P probably benign Het
Slc22a1 C T 17: 12,667,305 (GRCm38) W147* probably null Het
Smchd1 T C 17: 71,353,506 (GRCm38) I1868V probably damaging Het
Snx21 A G 2: 164,791,902 (GRCm38) S203G probably damaging Het
Srl T C 16: 4,482,831 (GRCm38) K792R probably benign Het
Srrt A G 5: 137,298,673 (GRCm38) F100S probably benign Het
Stard9 G T 2: 120,697,436 (GRCm38) M1391I probably benign Het
Syne2 A G 12: 76,035,630 (GRCm38) E119G probably damaging Het
Syt11 G T 3: 88,762,155 (GRCm38) S143R possibly damaging Het
Tiparp T A 3: 65,531,642 (GRCm38) H126Q probably benign Het
Tulp2 C A 7: 45,518,614 (GRCm38) T150K probably benign Het
Ugt2b37 T A 5: 87,242,429 (GRCm38) Y386F probably benign Het
Usp31 C T 7: 121,649,640 (GRCm38) W860* probably null Het
Zfp317 A G 9: 19,643,665 (GRCm38) R30G probably damaging Het
Zfp709 C A 8: 71,889,007 (GRCm38) N93K possibly damaging Het
Other mutations in Kat6a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00921:Kat6a APN 8 22,940,263 (GRCm38) missense unknown
IGL01093:Kat6a APN 8 22,939,321 (GRCm38) missense possibly damaging 0.85
IGL01364:Kat6a APN 8 22,907,700 (GRCm38) missense probably damaging 1.00
IGL01868:Kat6a APN 8 22,926,455 (GRCm38) missense probably damaging 1.00
IGL02477:Kat6a APN 8 22,929,300 (GRCm38) missense probably damaging 1.00
IGL02792:Kat6a APN 8 22,938,300 (GRCm38) missense probably damaging 0.98
IGL03243:Kat6a APN 8 22,910,222 (GRCm38) missense possibly damaging 0.77
Anning UTSW 8 22,932,113 (GRCm38) critical splice acceptor site probably null
Jackal UTSW 8 22,930,174 (GRCm38) missense probably damaging 0.99
lobo UTSW 8 22,910,249 (GRCm38) missense probably damaging 0.99
lord UTSW 8 22,862,364 (GRCm38) missense probably damaging 1.00
master UTSW 8 22,862,788 (GRCm38) missense probably damaging 0.99
R0018:Kat6a UTSW 8 22,929,273 (GRCm38) missense possibly damaging 0.74
R0018:Kat6a UTSW 8 22,929,273 (GRCm38) missense possibly damaging 0.74
R0284:Kat6a UTSW 8 22,939,803 (GRCm38) missense unknown
R0636:Kat6a UTSW 8 22,939,323 (GRCm38) missense possibly damaging 0.73
R0883:Kat6a UTSW 8 22,862,214 (GRCm38) missense probably damaging 1.00
R1457:Kat6a UTSW 8 22,938,652 (GRCm38) missense probably benign
R1753:Kat6a UTSW 8 22,935,797 (GRCm38) missense probably benign 0.09
R2059:Kat6a UTSW 8 22,939,305 (GRCm38) missense possibly damaging 0.53
R2155:Kat6a UTSW 8 22,935,647 (GRCm38) small deletion probably benign
R2764:Kat6a UTSW 8 22,932,178 (GRCm38) missense probably damaging 1.00
R3724:Kat6a UTSW 8 22,862,788 (GRCm38) missense probably damaging 0.99
R3824:Kat6a UTSW 8 22,862,364 (GRCm38) missense probably damaging 1.00
R3825:Kat6a UTSW 8 22,862,364 (GRCm38) missense probably damaging 1.00
R4370:Kat6a UTSW 8 22,911,929 (GRCm38) missense possibly damaging 0.95
R4371:Kat6a UTSW 8 22,911,929 (GRCm38) missense possibly damaging 0.95
R4457:Kat6a UTSW 8 22,932,113 (GRCm38) critical splice acceptor site probably null
R4600:Kat6a UTSW 8 22,939,311 (GRCm38) missense probably benign 0.18
R4792:Kat6a UTSW 8 22,940,576 (GRCm38) missense unknown
R4896:Kat6a UTSW 8 22,938,313 (GRCm38) missense probably benign 0.07
R5069:Kat6a UTSW 8 22,903,133 (GRCm38) missense probably damaging 1.00
R5192:Kat6a UTSW 8 22,911,713 (GRCm38) missense probably damaging 0.99
R5196:Kat6a UTSW 8 22,911,713 (GRCm38) missense probably damaging 0.99
R5279:Kat6a UTSW 8 22,939,648 (GRCm38) small deletion probably benign
R5331:Kat6a UTSW 8 22,939,984 (GRCm38) missense unknown
R5480:Kat6a UTSW 8 22,938,307 (GRCm38) missense possibly damaging 0.77
R5659:Kat6a UTSW 8 22,938,160 (GRCm38) nonsense probably null
R5759:Kat6a UTSW 8 22,938,012 (GRCm38) missense probably benign 0.04
R5787:Kat6a UTSW 8 22,932,647 (GRCm38) missense probably damaging 0.99
R5892:Kat6a UTSW 8 22,938,289 (GRCm38) missense probably damaging 1.00
R5923:Kat6a UTSW 8 22,939,479 (GRCm38) missense probably benign 0.00
R6049:Kat6a UTSW 8 22,939,037 (GRCm38) missense possibly damaging 0.53
R6223:Kat6a UTSW 8 22,940,426 (GRCm38) missense unknown
R6276:Kat6a UTSW 8 22,939,405 (GRCm38) missense possibly damaging 0.96
R6279:Kat6a UTSW 8 22,939,612 (GRCm38) missense unknown
R6300:Kat6a UTSW 8 22,939,612 (GRCm38) missense unknown
R6307:Kat6a UTSW 8 22,940,368 (GRCm38) missense unknown
R6562:Kat6a UTSW 8 22,911,787 (GRCm38) missense probably benign 0.04
R6807:Kat6a UTSW 8 22,940,368 (GRCm38) missense unknown
R6852:Kat6a UTSW 8 22,938,660 (GRCm38) missense probably benign 0.18
R6895:Kat6a UTSW 8 22,935,783 (GRCm38) missense possibly damaging 0.88
R6913:Kat6a UTSW 8 22,903,199 (GRCm38) missense possibly damaging 0.53
R7047:Kat6a UTSW 8 22,938,538 (GRCm38) missense possibly damaging 0.53
R7235:Kat6a UTSW 8 22,914,269 (GRCm38) missense possibly damaging 0.94
R7243:Kat6a UTSW 8 22,938,775 (GRCm38) missense probably benign 0.00
R7454:Kat6a UTSW 8 22,935,772 (GRCm38) missense possibly damaging 0.56
R7618:Kat6a UTSW 8 22,862,562 (GRCm38) missense possibly damaging 0.95
R7768:Kat6a UTSW 8 22,903,212 (GRCm38) missense probably damaging 1.00
R7980:Kat6a UTSW 8 22,926,416 (GRCm38) missense possibly damaging 0.95
R8051:Kat6a UTSW 8 22,910,249 (GRCm38) missense probably damaging 0.99
R8408:Kat6a UTSW 8 22,862,259 (GRCm38) missense probably damaging 1.00
R8725:Kat6a UTSW 8 22,908,277 (GRCm38) missense probably damaging 1.00
R8743:Kat6a UTSW 8 22,939,006 (GRCm38) missense possibly damaging 0.85
R8904:Kat6a UTSW 8 22,938,808 (GRCm38) missense possibly damaging 0.85
R9014:Kat6a UTSW 8 22,940,071 (GRCm38) missense unknown
R9019:Kat6a UTSW 8 22,935,738 (GRCm38) missense probably damaging 0.98
R9091:Kat6a UTSW 8 22,930,174 (GRCm38) missense probably damaging 0.99
R9142:Kat6a UTSW 8 22,940,056 (GRCm38) missense unknown
R9229:Kat6a UTSW 8 22,939,971 (GRCm38) missense unknown
R9270:Kat6a UTSW 8 22,930,174 (GRCm38) missense probably damaging 0.99
R9367:Kat6a UTSW 8 22,910,140 (GRCm38) missense possibly damaging 0.76
R9421:Kat6a UTSW 8 22,908,306 (GRCm38) missense probably damaging 1.00
X0050:Kat6a UTSW 8 22,940,481 (GRCm38) nonsense probably null
Z1088:Kat6a UTSW 8 22,935,501 (GRCm38) nonsense probably null
Z1176:Kat6a UTSW 8 22,910,154 (GRCm38) missense probably damaging 1.00
Z1177:Kat6a UTSW 8 22,940,166 (GRCm38) missense unknown
Z1190:Kat6a UTSW 8 22,940,229 (GRCm38) missense unknown
Predicted Primers PCR Primer
(F):5'- GCCAGAAGTTAAGGAACTAGCC -3'
(R):5'- AAGCCGGTCATTTCCTTCTGG -3'

Sequencing Primer
(F):5'- AACTAGCCAGTTCTTCACGTTTGAG -3'
(R):5'- AATCGGCACTTCAGGGTCTCAG -3'
Posted On 2018-10-18