Incidental Mutation 'R9526:Kat6b'
ID 719270
Institutional Source Beutler Lab
Gene Symbol Kat6b
Ensembl Gene ENSMUSG00000021767
Gene Name K(lysine) acetyltransferase 6B
Synonyms monocytic leukemia, Myst4, B130044K16Rik, Morf, qkf, querkopf
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.912) question?
Stock # R9526 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 21549284-21722546 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 21567564 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 208 (Q208K)
Ref Sequence ENSEMBL: ENSMUSP00000138511 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069648] [ENSMUST00000112458] [ENSMUST00000182405] [ENSMUST00000182855] [ENSMUST00000182964] [ENSMUST00000182996]
AlphaFold Q8BRB7
Predicted Effect probably benign
Transcript: ENSMUST00000069648
AA Change: Q208K

PolyPhen 2 Score 0.355 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000066693
Gene: ENSMUSG00000021767
AA Change: Q208K

DomainStartEndE-ValueType
H15 94 171 1.7e-12 SMART
low complexity region 189 203 N/A INTRINSIC
PHD 216 271 6.6e-5 SMART
PHD 272 319 5.56e-12 SMART
low complexity region 386 398 N/A INTRINSIC
low complexity region 411 425 N/A INTRINSIC
Blast:PHD 483 573 3e-51 BLAST
Pfam:MOZ_SAS 594 772 4.5e-85 PFAM
coiled coil region 811 845 N/A INTRINSIC
coiled coil region 875 913 N/A INTRINSIC
low complexity region 926 943 N/A INTRINSIC
low complexity region 946 959 N/A INTRINSIC
low complexity region 1153 1175 N/A INTRINSIC
low complexity region 1207 1237 N/A INTRINSIC
low complexity region 1391 1410 N/A INTRINSIC
low complexity region 1450 1464 N/A INTRINSIC
low complexity region 1490 1517 N/A INTRINSIC
low complexity region 1676 1695 N/A INTRINSIC
low complexity region 1811 1832 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112458
SMART Domains Protein: ENSMUSP00000108077
Gene: ENSMUSG00000021767

DomainStartEndE-ValueType
H15 94 159 3.4e-1 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000182405
AA Change: Q208K

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000138377
Gene: ENSMUSG00000021767
AA Change: Q208K

DomainStartEndE-ValueType
H15 94 171 1.7e-12 SMART
low complexity region 189 203 N/A INTRINSIC
PHD 216 271 6.6e-5 SMART
PHD 272 319 5.56e-12 SMART
Pfam:MOZ_SAS 482 669 1.3e-89 PFAM
coiled coil region 702 736 N/A INTRINSIC
coiled coil region 766 804 N/A INTRINSIC
low complexity region 817 834 N/A INTRINSIC
low complexity region 837 850 N/A INTRINSIC
low complexity region 1044 1066 N/A INTRINSIC
low complexity region 1098 1128 N/A INTRINSIC
low complexity region 1282 1301 N/A INTRINSIC
low complexity region 1341 1355 N/A INTRINSIC
low complexity region 1381 1408 N/A INTRINSIC
low complexity region 1567 1586 N/A INTRINSIC
low complexity region 1702 1723 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000182855
AA Change: Q208K

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000138511
Gene: ENSMUSG00000021767
AA Change: Q208K

DomainStartEndE-ValueType
H15 94 171 1.7e-12 SMART
low complexity region 189 203 N/A INTRINSIC
PHD 216 271 6.6e-5 SMART
PHD 272 319 5.56e-12 SMART
Pfam:MOZ_SAS 482 669 1.3e-89 PFAM
coiled coil region 702 736 N/A INTRINSIC
coiled coil region 766 804 N/A INTRINSIC
low complexity region 817 834 N/A INTRINSIC
low complexity region 837 850 N/A INTRINSIC
low complexity region 1044 1066 N/A INTRINSIC
low complexity region 1098 1128 N/A INTRINSIC
low complexity region 1282 1301 N/A INTRINSIC
low complexity region 1341 1355 N/A INTRINSIC
low complexity region 1381 1408 N/A INTRINSIC
low complexity region 1567 1586 N/A INTRINSIC
low complexity region 1702 1723 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000182964
AA Change: Q208K

PolyPhen 2 Score 0.355 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000138421
Gene: ENSMUSG00000021767
AA Change: Q208K

DomainStartEndE-ValueType
H15 94 171 1.7e-12 SMART
low complexity region 189 203 N/A INTRINSIC
PHD 216 271 6.6e-5 SMART
PHD 272 319 5.56e-12 SMART
low complexity region 386 398 N/A INTRINSIC
low complexity region 411 425 N/A INTRINSIC
Blast:PHD 483 573 3e-51 BLAST
Pfam:MOZ_SAS 591 778 1.4e-89 PFAM
coiled coil region 811 845 N/A INTRINSIC
coiled coil region 875 913 N/A INTRINSIC
low complexity region 926 943 N/A INTRINSIC
low complexity region 946 959 N/A INTRINSIC
low complexity region 1153 1175 N/A INTRINSIC
low complexity region 1207 1237 N/A INTRINSIC
low complexity region 1391 1410 N/A INTRINSIC
low complexity region 1450 1464 N/A INTRINSIC
low complexity region 1490 1517 N/A INTRINSIC
low complexity region 1676 1695 N/A INTRINSIC
low complexity region 1811 1832 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000182996
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
MGI Phenotype PHENOTYPE: Reduced expression of this gene results in developmental defects of the skeleton and brain, particularly the cerebral cortex. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 103 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn1 A G 12: 80,230,393 (GRCm39) L287S probably damaging Het
Adgrf1 A T 17: 43,616,237 (GRCm39) Q292L possibly damaging Het
Arhgap32 A G 9: 32,172,026 (GRCm39) D1602G probably benign Het
Atrnl1 C T 19: 57,617,551 (GRCm39) P109S probably damaging Het
Camsap1 G A 2: 25,843,962 (GRCm39) H230Y probably benign Het
Capns1 C T 7: 29,891,612 (GRCm39) C144Y probably damaging Het
Ccdc17 G A 4: 116,455,994 (GRCm39) V341I possibly damaging Het
Cd36 T C 5: 18,002,033 (GRCm39) T323A probably damaging Het
Cdc14a CGCTGCTGCTGCTGCTGCTG CGCTGCTGCTGCTGCTG 3: 116,087,509 (GRCm39) probably benign Het
Ckap2l G A 2: 129,111,161 (GRCm39) Q679* probably null Het
Clec4g T A 8: 3,768,565 (GRCm39) N93I probably benign Het
Cntnap2 T A 6: 45,992,165 (GRCm39) L364Q probably damaging Het
Cul9 A G 17: 46,841,026 (GRCm39) M748T probably benign Het
Dnah11 A T 12: 118,150,711 (GRCm39) I349N probably damaging Het
Dnajc14 T A 10: 128,642,260 (GRCm39) Y61N probably benign Het
Dock6 A T 9: 21,713,802 (GRCm39) Y1909* probably null Het
Dock8 T A 19: 25,165,739 (GRCm39) D1874E probably benign Het
Dpm1 A G 2: 168,072,210 (GRCm39) S22P probably benign Het
Dysf T C 6: 84,128,885 (GRCm39) L1385P probably damaging Het
Egf T C 3: 129,491,421 (GRCm39) T859A probably benign Het
Eif2b1 A T 5: 124,711,867 (GRCm39) S162T probably benign Het
Emilin1 T C 5: 31,075,484 (GRCm39) L575P probably damaging Het
Erp27 T A 6: 136,886,550 (GRCm39) Q161L probably benign Het
Fbxw10 C A 11: 62,765,945 (GRCm39) D738E possibly damaging Het
Fcgbp T G 7: 27,790,937 (GRCm39) C733G probably damaging Het
Fgb T A 3: 82,957,122 (GRCm39) probably benign Het
Gata3os A T 2: 9,887,634 (GRCm39) T12S unknown Het
Got1l1 G T 8: 27,688,503 (GRCm39) Q283K probably benign Het
Grk2 G A 19: 4,340,871 (GRCm39) R226C probably damaging Het
Hoxa10 T C 6: 52,211,334 (GRCm39) D194G probably benign Het
Ipcef1 G A 10: 6,840,620 (GRCm39) T363I probably damaging Het
Itga10 C A 3: 96,564,273 (GRCm39) T922N probably damaging Het
Itgad T C 7: 127,777,552 (GRCm39) I144T probably benign Het
Kidins220 T G 12: 25,088,383 (GRCm39) L1042R probably damaging Het
Kmt2c T C 5: 25,486,355 (GRCm39) S4733G probably damaging Het
Lrig3 A G 10: 125,850,736 (GRCm39) I1101V probably benign Het
Lrp1 T A 10: 127,431,229 (GRCm39) N311I probably damaging Het
Man2a1 A T 17: 64,958,310 (GRCm39) K275I probably benign Het
Map3k10 T A 7: 27,364,434 (GRCm39) N318I probably damaging Het
Map3k8 G A 18: 4,333,869 (GRCm39) R408W probably damaging Het
Mast1 A G 8: 85,647,805 (GRCm39) M523T probably damaging Het
Mast4 T C 13: 102,873,593 (GRCm39) H1925R probably benign Het
Med12l C T 3: 58,984,207 (GRCm39) S461L probably damaging Het
Mfap1a T C 2: 121,333,237 (GRCm39) K65E probably damaging Het
Mical1 T C 10: 41,358,602 (GRCm39) S507P probably benign Het
Miga2 T C 2: 30,268,400 (GRCm39) V433A unknown Het
Mpdz T C 4: 81,274,653 (GRCm39) T848A probably benign Het
Mycn A G 12: 12,989,778 (GRCm39) V206A probably benign Het
Ndst1 G A 18: 60,838,220 (GRCm39) Q342* probably null Het
Nectin1 A G 9: 43,702,369 (GRCm39) M39V probably benign Het
Nectin4 A T 1: 171,210,209 (GRCm39) R234* probably null Het
Ngb C G 12: 87,145,317 (GRCm39) V113L possibly damaging Het
Nphp3 T A 9: 103,913,337 (GRCm39) Y990N probably damaging Het
Nrdc T C 4: 108,915,833 (GRCm39) probably null Het
Or10a2 A T 7: 106,673,739 (GRCm39) K235* probably null Het
Or1e23 T A 11: 73,407,351 (GRCm39) I225F probably damaging Het
Or5p60 T A 7: 107,723,801 (GRCm39) Y223F probably benign Het
Osbpl6 A G 2: 76,415,603 (GRCm39) Y655C probably damaging Het
Pcdhgb4 A G 18: 37,855,882 (GRCm39) Q759R probably benign Het
Pcsk4 T C 10: 80,161,800 (GRCm39) D164G probably damaging Het
Pde4d T A 13: 110,071,915 (GRCm39) I303N probably damaging Het
Pdf T A 8: 107,774,972 (GRCm39) M87L probably benign Het
Pigb A G 9: 72,941,840 (GRCm39) S140P probably damaging Het
Plch1 T A 3: 63,758,549 (GRCm39) probably benign Het
Plxna1 G T 6: 89,319,633 (GRCm39) D557E probably benign Het
Polr2e C T 10: 79,872,792 (GRCm39) V149M probably benign Het
Polr3a A T 14: 24,503,313 (GRCm39) C1174S probably benign Het
Prb1c T A 6: 132,338,891 (GRCm39) N109I unknown Het
Psmd2 T A 16: 20,474,369 (GRCm39) S308R probably benign Het
Ptger1 T A 8: 84,396,002 (GRCm39) V353E probably damaging Het
Ptprc A G 1: 137,996,111 (GRCm39) M940T probably benign Het
Pus7l T C 15: 94,425,781 (GRCm39) N540S probably damaging Het
Rap1gds1 T A 3: 138,756,317 (GRCm39) I13L probably benign Het
Rasl10b A T 11: 83,303,590 (GRCm39) N49I probably damaging Het
Rftn1 A T 17: 50,301,237 (GRCm39) N537K probably benign Het
Rnase4 A G 14: 51,342,645 (GRCm39) Y123C probably damaging Het
Rnf181 A C 6: 72,338,302 (GRCm39) N26K probably benign Het
Rnf31 G A 14: 55,836,269 (GRCm39) probably null Het
Rpusd3 C G 6: 113,393,200 (GRCm39) C304S unknown Het
Rsf1 CGGC CGGCGGCGGGGGC 7: 97,229,139 (GRCm39) probably benign Het
Ryr3 C A 2: 112,664,270 (GRCm39) V1694L probably benign Het
Sanbr T C 11: 23,559,098 (GRCm39) Y372C probably damaging Het
Sephs2 T C 7: 126,872,346 (GRCm39) D249G probably damaging Het
Serpina10 A G 12: 103,583,217 (GRCm39) I409T probably damaging Het
Serpina5 C T 12: 104,069,403 (GRCm39) A205V probably damaging Het
Sfr1 T A 19: 47,723,453 (GRCm39) V319E probably damaging Het
Skil T A 3: 31,171,639 (GRCm39) Y542N probably benign Het
Slc15a5 T C 6: 138,049,954 (GRCm39) T154A probably benign Het
Slc27a2 T A 2: 126,429,846 (GRCm39) L618Q probably damaging Het
Slc6a6 A T 6: 91,726,808 (GRCm39) Y483F probably benign Het
Sprr1b T C 3: 92,344,443 (GRCm39) I144M probably benign Het
Stat5a T A 11: 100,771,161 (GRCm39) V580E Het
Tnk1 C T 11: 69,746,011 (GRCm39) D305N probably damaging Het
Tox2 A G 2: 163,164,930 (GRCm39) *523W probably null Het
Trav12-2 A G 14: 53,854,085 (GRCm39) N20D probably benign Het
Trav16 T A 14: 53,981,046 (GRCm39) N78K probably damaging Het
Trf C T 9: 103,104,130 (GRCm39) A78T probably damaging Het
Ttn A G 2: 76,711,543 (GRCm39) probably benign Het
Vmn2r67 T A 7: 84,785,834 (GRCm39) M724L probably benign Het
Vmn2r94 A T 17: 18,477,261 (GRCm39) F383L probably benign Het
Vwa2 T C 19: 56,895,208 (GRCm39) S461P probably benign Het
Zfp991 G A 4: 147,264,327 (GRCm39) G568E probably damaging Het
Zfpl1 A G 19: 6,134,440 (GRCm39) F15S probably damaging Het
Other mutations in Kat6b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00264:Kat6b APN 14 21,718,627 (GRCm39) missense probably benign 0.00
IGL01128:Kat6b APN 14 21,710,928 (GRCm39) missense probably benign
IGL02272:Kat6b APN 14 21,676,846 (GRCm39) missense probably damaging 0.99
IGL02349:Kat6b APN 14 21,687,661 (GRCm39) missense probably damaging 0.99
IGL02402:Kat6b APN 14 21,681,415 (GRCm39) missense probably damaging 1.00
IGL02474:Kat6b APN 14 21,719,107 (GRCm39) missense possibly damaging 0.95
IGL02516:Kat6b APN 14 21,659,936 (GRCm39) splice site probably benign
IGL02666:Kat6b APN 14 21,678,938 (GRCm39) missense probably damaging 1.00
IGL02971:Kat6b APN 14 21,719,826 (GRCm39) missense probably damaging 1.00
IGL03075:Kat6b APN 14 21,711,638 (GRCm39) nonsense probably null
IGL03274:Kat6b APN 14 21,659,831 (GRCm39) missense possibly damaging 0.95
IGL03308:Kat6b APN 14 21,674,902 (GRCm39) missense probably damaging 0.99
R0118:Kat6b UTSW 14 21,720,042 (GRCm39) missense probably damaging 0.99
R0383:Kat6b UTSW 14 21,719,149 (GRCm39) missense probably benign 0.02
R0441:Kat6b UTSW 14 21,720,301 (GRCm39) missense probably damaging 1.00
R0457:Kat6b UTSW 14 21,720,598 (GRCm39) missense probably damaging 0.96
R0558:Kat6b UTSW 14 21,719,489 (GRCm39) missense probably benign 0.03
R0662:Kat6b UTSW 14 21,712,417 (GRCm39) small deletion probably benign
R0684:Kat6b UTSW 14 21,718,849 (GRCm39) missense probably benign
R0755:Kat6b UTSW 14 21,687,661 (GRCm39) missense probably damaging 0.99
R1216:Kat6b UTSW 14 21,672,108 (GRCm39) nonsense probably null
R1479:Kat6b UTSW 14 21,669,024 (GRCm39) missense probably benign 0.19
R1873:Kat6b UTSW 14 21,567,057 (GRCm39) missense probably damaging 1.00
R1957:Kat6b UTSW 14 21,678,947 (GRCm39) missense probably damaging 1.00
R2151:Kat6b UTSW 14 21,718,735 (GRCm39) missense probably benign 0.02
R2152:Kat6b UTSW 14 21,718,735 (GRCm39) missense probably benign 0.02
R2153:Kat6b UTSW 14 21,718,735 (GRCm39) missense probably benign 0.02
R2154:Kat6b UTSW 14 21,718,735 (GRCm39) missense probably benign 0.02
R2399:Kat6b UTSW 14 21,712,417 (GRCm39) small deletion probably benign
R3740:Kat6b UTSW 14 21,720,112 (GRCm39) missense probably damaging 0.99
R3771:Kat6b UTSW 14 21,567,166 (GRCm39) missense probably damaging 1.00
R4178:Kat6b UTSW 14 21,668,972 (GRCm39) nonsense probably null
R4261:Kat6b UTSW 14 21,719,737 (GRCm39) missense probably damaging 1.00
R4551:Kat6b UTSW 14 21,711,516 (GRCm39) missense probably damaging 1.00
R4724:Kat6b UTSW 14 21,711,030 (GRCm39) missense probably benign
R5055:Kat6b UTSW 14 21,567,062 (GRCm39) missense probably damaging 0.99
R5098:Kat6b UTSW 14 21,669,083 (GRCm39) splice site probably benign
R5121:Kat6b UTSW 14 21,669,326 (GRCm39) missense probably damaging 0.98
R5158:Kat6b UTSW 14 21,720,054 (GRCm39) missense possibly damaging 0.93
R5488:Kat6b UTSW 14 21,719,332 (GRCm39) missense probably damaging 1.00
R5489:Kat6b UTSW 14 21,719,332 (GRCm39) missense probably damaging 1.00
R5653:Kat6b UTSW 14 21,719,440 (GRCm39) missense probably benign 0.10
R5742:Kat6b UTSW 14 21,718,503 (GRCm39) missense probably damaging 0.99
R5868:Kat6b UTSW 14 21,684,547 (GRCm39) missense probably damaging 1.00
R5969:Kat6b UTSW 14 21,720,860 (GRCm39) missense probably damaging 0.97
R6110:Kat6b UTSW 14 21,720,555 (GRCm39) missense probably damaging 1.00
R6427:Kat6b UTSW 14 21,567,480 (GRCm39) missense probably benign 0.24
R6457:Kat6b UTSW 14 21,720,748 (GRCm39) missense probably damaging 1.00
R6639:Kat6b UTSW 14 21,567,562 (GRCm39) missense possibly damaging 0.57
R6891:Kat6b UTSW 14 21,719,104 (GRCm39) missense probably benign 0.01
R7784:Kat6b UTSW 14 21,710,909 (GRCm39) missense probably damaging 1.00
R7916:Kat6b UTSW 14 21,712,417 (GRCm39) small deletion probably benign
R7977:Kat6b UTSW 14 21,719,931 (GRCm39) missense probably benign 0.00
R7987:Kat6b UTSW 14 21,719,931 (GRCm39) missense probably benign 0.00
R8167:Kat6b UTSW 14 21,719,953 (GRCm39) missense probably damaging 1.00
R8266:Kat6b UTSW 14 21,566,913 (GRCm39) start gained probably benign
R8483:Kat6b UTSW 14 21,719,461 (GRCm39) missense probably damaging 1.00
R8902:Kat6b UTSW 14 21,719,629 (GRCm39) missense probably benign 0.30
R8909:Kat6b UTSW 14 21,719,214 (GRCm39) missense probably benign
R8931:Kat6b UTSW 14 21,674,995 (GRCm39) missense probably damaging 0.98
R9112:Kat6b UTSW 14 21,675,256 (GRCm39) missense possibly damaging 0.85
R9182:Kat6b UTSW 14 21,567,187 (GRCm39) missense probably benign 0.20
R9224:Kat6b UTSW 14 21,720,031 (GRCm39) missense probably benign 0.14
R9273:Kat6b UTSW 14 21,711,551 (GRCm39) missense probably benign 0.07
R9332:Kat6b UTSW 14 21,720,093 (GRCm39) missense probably benign 0.00
R9380:Kat6b UTSW 14 21,678,926 (GRCm39) missense probably damaging 1.00
R9397:Kat6b UTSW 14 21,675,244 (GRCm39) missense possibly damaging 0.94
R9400:Kat6b UTSW 14 21,659,826 (GRCm39) missense probably damaging 0.99
R9432:Kat6b UTSW 14 21,672,077 (GRCm39) missense probably damaging 0.99
R9481:Kat6b UTSW 14 21,712,417 (GRCm39) small deletion probably benign
Predicted Primers PCR Primer
(F):5'- CAGCCTTTCAGCAGAGGTTG -3'
(R):5'- CAAACTCCATTCAGATCTTCCG -3'

Sequencing Primer
(F):5'- GCAGAGGTTGCGGCTAG -3'
(R):5'- TGGGACCGTTTAATACAGCC -3'
Posted On 2022-07-18