Incidental Mutation 'R8931:Kat6b'
ID 680326
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 068775-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.912) question?
Stock # R8931 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 21549284-21722546 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 21674995 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 387 (S387P)
Ref Sequence ENSEMBL: ENSMUSP00000138421 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069648] [ENSMUST00000112458] [ENSMUST00000182405] [ENSMUST00000182855] [ENSMUST00000182964]
AlphaFold Q8BRB7
Predicted Effect probably damaging
Transcript: ENSMUST00000069648
AA Change: S387P

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000066693
Gene: ENSMUSG00000021767
AA Change: S387P

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 probably benign
Transcript: ENSMUST00000182405
SMART Domains Protein: ENSMUSP00000138377
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 272 319 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: ENSMUST00000182855
SMART Domains Protein: ENSMUSP00000138511
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 272 319 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: ENSMUST00000182964
AA Change: S387P

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000138421
Gene: ENSMUSG00000021767
AA Change: S387P

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (58/58)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acat3 G C 17: 13,147,405 (GRCm39) P204R probably damaging Het
Aldh3b1 A G 19: 3,968,803 (GRCm39) I250T possibly damaging Het
Ankrd11 C T 8: 123,622,718 (GRCm39) R378K probably damaging Het
Arap1 G A 7: 101,057,324 (GRCm39) R1355Q possibly damaging Het
Arhgef19 T C 4: 140,976,603 (GRCm39) V455A probably damaging Het
BC051019 T C 7: 109,315,286 (GRCm39) E323G probably damaging Het
Bzw2 T C 12: 36,184,943 (GRCm39) N2S possibly damaging Het
Calm3 G C 7: 16,651,398 (GRCm39) F66L probably damaging Het
Carmil1 T A 13: 24,338,704 (GRCm39) T191S probably benign Het
Cemip2 T A 19: 21,770,323 (GRCm39) S104T probably benign Het
Cep170 A T 1: 176,597,377 (GRCm39) C389S probably benign Het
Clhc1 C T 11: 29,510,533 (GRCm39) Q195* probably null Het
Cttnbp2 A G 6: 18,434,808 (GRCm39) L350P probably benign Het
Cyp7a1 T C 4: 6,271,238 (GRCm39) E306G possibly damaging Het
Ddx25 T C 9: 35,465,864 (GRCm39) N119S possibly damaging Het
Ephx2 G T 14: 66,322,441 (GRCm39) probably benign Het
Ern2 C T 7: 121,769,363 (GRCm39) A888T probably benign Het
Fbln2 A T 6: 91,246,072 (GRCm39) I973F probably damaging Het
Fbn1 T C 2: 125,202,095 (GRCm39) I1259M probably damaging Het
Glis1 A G 4: 107,421,060 (GRCm39) H92R probably benign Het
Gm13283 A C 4: 88,679,516 (GRCm39) D169A probably benign Het
Gpr61 A G 3: 108,057,470 (GRCm39) L397P probably benign Het
H4c11 T A 13: 21,919,369 (GRCm39) I35N probably damaging Het
Hip1 A T 5: 135,460,297 (GRCm39) probably benign Het
Hmgcs2 C T 3: 98,203,557 (GRCm39) A222V probably damaging Het
Ifna2 G A 4: 88,601,712 (GRCm39) T102I probably benign Het
Ldlr G A 9: 21,643,108 (GRCm39) V45M probably damaging Het
Mc3r A T 2: 172,091,515 (GRCm39) I246F possibly damaging Het
Mug1 G C 6: 121,861,296 (GRCm39) A1306P probably benign Het
Myo15a A G 11: 60,368,020 (GRCm39) E260G probably benign Het
Naa16 A G 14: 79,582,395 (GRCm39) Y565H probably damaging Het
Ndufaf7 A G 17: 79,244,950 (GRCm39) Y23C possibly damaging Het
Nop58 G A 1: 59,731,549 (GRCm39) probably null Het
Or6c33 A T 10: 129,853,769 (GRCm39) T180S possibly damaging Het
Or6c88 A T 10: 129,406,550 (GRCm39) T9S probably benign Het
Or7g19 T A 9: 18,855,920 (GRCm39) probably benign Het
Pcdh8 G A 14: 80,006,971 (GRCm39) Q531* probably null Het
Pik3c2g A G 6: 139,821,093 (GRCm39) T297A probably benign Het
Poc1b T C 10: 99,028,861 (GRCm39) probably null Het
Prb1c G A 6: 132,338,897 (GRCm39) P107L Het
Prokr2 A G 2: 132,215,996 (GRCm39) V155A possibly damaging Het
Rce1 C T 19: 4,674,094 (GRCm39) probably benign Het
Rnf148 A T 6: 23,654,704 (GRCm39) N97K possibly damaging Het
Setbp1 A G 18: 78,899,723 (GRCm39) S1315P probably benign Het
Sgcz A G 8: 38,107,140 (GRCm39) V124A probably damaging Het
Slc25a2 C A 18: 37,771,089 (GRCm39) G147C probably damaging Het
Slc28a2b C A 2: 122,348,983 (GRCm39) P303Q Het
Sod2 T C 17: 13,227,193 (GRCm39) L49P probably damaging Het
Tbc1d12 T C 19: 38,854,098 (GRCm39) V260A probably benign Het
Tcte2 C A 17: 13,933,410 (GRCm39) probably benign Het
Tenm3 T C 8: 48,688,637 (GRCm39) T2317A probably damaging Het
Tfcp2 T C 15: 100,402,298 (GRCm39) I500V possibly damaging Het
Trav14-3 C A 14: 54,001,112 (GRCm39) Q108K probably damaging Het
Trbv14 T C 6: 41,112,364 (GRCm39) Y54H probably damaging Het
Trpm3 T A 19: 22,744,034 (GRCm39) V337E probably damaging Het
Tsbp1 T C 17: 34,659,328 (GRCm39) probably benign Het
Uox A T 3: 146,318,047 (GRCm39) I14F probably damaging Het
Wdfy3 A G 5: 102,065,421 (GRCm39) V1249A probably benign Het
Zfp511 T C 7: 139,617,194 (GRCm39) Y97H probably damaging Het
Zfp536 G T 7: 37,268,721 (GRCm39) Q232K probably benign Het
Zng1 T G 19: 24,932,780 (GRCm39) K84N 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
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'- CAGTGAATCGTCTCAAGTTCAAG -3'
(R):5'- ATTATTTCACCTCGGGATCTGC -3'

Sequencing Primer
(F):5'- GAATCGTCTCAAGTTCAAGTACATTG -3'
(R):5'- TCGGGATCTGCGACCATCAG -3'
Posted On 2021-08-31