Incidental Mutation 'R5055:Kat6b'
ID 390803
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 042645-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.912) question?
Stock # R5055 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 21549284-21722546 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 21567062 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 40 (H40Q)
Ref Sequence ENSEMBL: ENSMUSP00000108077 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069648] [ENSMUST00000112458] [ENSMUST00000182405] [ENSMUST00000182855] [ENSMUST00000182964] [ENSMUST00000182996]
AlphaFold Q8BRB7
Predicted Effect probably damaging
Transcript: ENSMUST00000069648
AA Change: H40Q

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000066693
Gene: ENSMUSG00000021767
AA Change: H40Q

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 noncoding transcript
Transcript: ENSMUST00000096222
SMART Domains Protein: ENSMUSP00000093937
Gene: ENSMUSG00000021767

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 272 317 8.71e-5 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000112458
AA Change: H40Q

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000108077
Gene: ENSMUSG00000021767
AA Change: H40Q

DomainStartEndE-ValueType
H15 94 159 3.4e-1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000182405
AA Change: H40Q

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000138377
Gene: ENSMUSG00000021767
AA Change: H40Q

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 damaging
Transcript: ENSMUST00000182855
AA Change: H40Q

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000138511
Gene: ENSMUSG00000021767
AA Change: H40Q

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 noncoding transcript
Transcript: ENSMUST00000182859
Predicted Effect probably damaging
Transcript: ENSMUST00000182964
AA Change: H40Q

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000138421
Gene: ENSMUSG00000021767
AA Change: H40Q

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 possibly damaging
Transcript: ENSMUST00000182996
AA Change: H40Q

PolyPhen 2 Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183055
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183228
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183201
Meta Mutation Damage Score 0.1838 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 92.9%
Validation Efficiency 98% (84/86)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam19 G A 11: 46,013,996 (GRCm39) V329I probably damaging Het
Adgrl3 C A 5: 81,794,398 (GRCm39) A541E possibly damaging Het
Agbl1 A T 7: 76,063,325 (GRCm39) I263F probably damaging Het
Ash1l T C 3: 88,930,519 (GRCm39) probably null Het
Bccip A G 7: 133,316,652 (GRCm39) T91A probably benign Het
Bnc1 A T 7: 81,624,163 (GRCm39) F355I probably damaging Het
Bpifa2 A T 2: 153,855,630 (GRCm39) D185V probably damaging Het
Capn8 T A 1: 182,399,526 (GRCm39) V89D probably damaging Het
Cfap46 A T 7: 139,241,106 (GRCm39) M421K probably damaging Het
Chd2 A T 7: 73,130,256 (GRCm39) L800M probably damaging Het
Chd4 A G 6: 125,077,949 (GRCm39) D137G possibly damaging Het
Crtap A G 9: 114,219,208 (GRCm39) Y154H probably benign Het
Ctdp1 T A 18: 80,499,303 (GRCm39) Q213L probably damaging Het
Cts6 T C 13: 61,344,164 (GRCm39) Y296C probably damaging Het
Daxx G T 17: 34,131,134 (GRCm39) V354F probably benign Het
Dnah2 A G 11: 69,411,599 (GRCm39) I341T possibly damaging Het
Epha2 A G 4: 141,036,380 (GRCm39) D272G probably benign Het
Etfa A G 9: 55,407,417 (GRCm39) V24A probably damaging Het
Fbxl7 C A 15: 26,553,022 (GRCm39) G82W probably damaging Het
Fcamr G A 1: 130,739,174 (GRCm39) C158Y probably damaging Het
Fyb1 A C 15: 6,614,630 (GRCm39) probably benign Het
Gars1 G A 6: 55,045,077 (GRCm39) R454H probably damaging Het
Ghsr T C 3: 27,426,421 (GRCm39) V159A probably benign Het
Glp1r A T 17: 31,137,861 (GRCm39) Q97H probably benign Het
Gm27047 T C 6: 130,606,909 (GRCm39) noncoding transcript Het
Igkv3-3 A C 6: 70,664,223 (GRCm39) I22L probably benign Het
Inpp5b G T 4: 124,636,824 (GRCm39) probably null Het
Ipo9 C A 1: 135,330,097 (GRCm39) E448* probably null Het
Itgb2l A T 16: 96,229,003 (GRCm39) I400N probably damaging Het
Kcna7 G A 7: 45,056,015 (GRCm39) R77H probably damaging Het
Kcnq2 G T 2: 180,728,554 (GRCm39) probably benign Het
Klf7 T C 1: 64,118,439 (GRCm39) T53A probably benign Het
Kmt2a A G 9: 44,729,649 (GRCm39) probably benign Het
Lrp10 C T 14: 54,705,802 (GRCm39) R331C probably benign Het
Map4k5 A T 12: 69,878,332 (GRCm39) D289E probably benign Het
Mfsd4b2 A T 10: 39,799,773 (GRCm39) M43K possibly damaging Het
Msr1 T G 8: 40,076,997 (GRCm39) R138S possibly damaging Het
Myh7b G C 2: 155,474,293 (GRCm39) R1669S possibly damaging Het
Myh9 G A 15: 77,648,723 (GRCm39) A1711V probably benign Het
Myo18b A G 5: 113,023,083 (GRCm39) probably benign Het
Nampt A T 12: 32,883,120 (GRCm39) N102Y possibly damaging Het
Nell2 T C 15: 95,371,460 (GRCm39) I92V probably benign Het
Nes A G 3: 87,884,521 (GRCm39) N883D probably benign Het
Neurl3 T A 1: 36,312,463 (GRCm39) probably benign Het
Ocln T A 13: 100,675,930 (GRCm39) T188S probably benign Het
Or2ag20 T A 7: 106,464,937 (GRCm39) M250K probably damaging Het
Or5m10 T C 2: 85,717,585 (GRCm39) F147S probably benign Het
Parp14 T A 16: 35,664,733 (GRCm39) Q1305L probably benign Het
Pde3a C T 6: 141,433,682 (GRCm39) Q855* probably null Het
Pde4b T C 4: 102,052,311 (GRCm39) probably benign Het
Pdk2 T C 11: 94,930,242 (GRCm39) M65V probably benign Het
Phf21a T C 2: 92,182,201 (GRCm39) S377P probably damaging Het
Plcb2 T A 2: 118,548,703 (GRCm39) T408S probably benign Het
Ppp1r12b G T 1: 134,883,471 (GRCm39) A17E probably benign Het
Ppp6r2 A G 15: 89,167,152 (GRCm39) D789G probably benign Het
Prdm16 T C 4: 154,419,719 (GRCm39) M897V possibly damaging Het
Prss57 A G 10: 79,620,178 (GRCm39) probably null Het
Psd G T 19: 46,310,907 (GRCm39) L381I probably benign Het
Ptprq A T 10: 107,370,540 (GRCm39) D2050E probably benign Het
Rfc1 G T 5: 65,423,505 (GRCm39) N1034K probably damaging Het
Ryr3 C T 2: 112,661,504 (GRCm39) G1829S probably benign Het
Scaper T C 9: 55,767,003 (GRCm39) probably null Het
Scn5a A G 9: 119,351,632 (GRCm39) I783T probably damaging Het
Slc28a1 A G 7: 80,818,796 (GRCm39) N583S possibly damaging Het
Slc35e3 C T 10: 117,580,884 (GRCm39) G140D probably damaging Het
Slc6a9 G A 4: 117,725,347 (GRCm39) probably null Het
Sptlc1 A G 13: 53,496,218 (GRCm39) S376P probably benign Het
Sspo G A 6: 48,441,729 (GRCm39) C1913Y probably damaging Het
Taar7b A T 10: 23,876,845 (GRCm39) I337F possibly damaging Het
Tdpoz2 T A 3: 93,559,235 (GRCm39) I246F probably damaging Het
Trpa1 C T 1: 14,946,183 (GRCm39) V983M probably damaging Het
Trpm5 A T 7: 142,626,521 (GRCm39) M1112K probably benign Het
Tsbp1 G A 17: 34,667,770 (GRCm39) C154Y possibly damaging Het
Uso1 A T 5: 92,340,594 (GRCm39) K670I probably benign Het
Washc4 A G 10: 83,392,771 (GRCm39) D257G probably damaging Het
Wdr41 T A 13: 95,151,725 (GRCm39) probably null Het
Zbtb17 A G 4: 141,193,860 (GRCm39) Q668R possibly 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
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
R9526:Kat6b UTSW 14 21,567,564 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- AAGGCGAATCTCTATGGGTAAC -3'
(R):5'- CAAGGCCTTCGATTGCTCTC -3'

Sequencing Primer
(F):5'- CGAATCTCTATGGGTAACGTCTG -3'
(R):5'- TGCGTAGATCATTACACGGC -3'
Posted On 2016-06-06