Incidental Mutation 'R0118:Kat6b'
ID 60563
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 038404-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.912) question?
Stock # R0118 (G1)
Quality Score 101
Status Not validated
Chromosome 14
Chromosomal Location 21549284-21722546 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 21720042 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 1465 (F1465L)
Ref Sequence ENSEMBL: ENSMUSP00000138511 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069648] [ENSMUST00000112458] [ENSMUST00000182405] [ENSMUST00000182855] [ENSMUST00000182964]
AlphaFold Q8BRB7
Predicted Effect probably benign
Transcript: ENSMUST00000069648
AA Change: F1574L

PolyPhen 2 Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000066693
Gene: ENSMUSG00000021767
AA Change: F1574L

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 damaging
Transcript: ENSMUST00000182405
AA Change: F1465L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000138377
Gene: ENSMUSG00000021767
AA Change: F1465L

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: F1465L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000138511
Gene: ENSMUSG00000021767
AA Change: F1465L

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: F1574L

PolyPhen 2 Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000138421
Gene: ENSMUSG00000021767
AA Change: F1574L

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: 98.8%
  • 3x: 97.2%
  • 10x: 89.3%
  • 20x: 67.4%
Validation Efficiency 98% (50/51)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts15 T C 9: 30,823,040 (GRCm39) R343G probably damaging Het
Asxl2 T G 12: 3,546,923 (GRCm39) V569G probably damaging Het
Azin2 A C 4: 128,843,430 (GRCm39) H85Q probably damaging Het
Cacna1a C T 8: 85,262,712 (GRCm39) R324C probably damaging Het
Ccr3 C A 9: 123,829,647 (GRCm39) Y327* probably null Het
Cers2 T C 3: 95,227,537 (GRCm39) F55S probably benign Het
Cic C T 7: 24,985,459 (GRCm39) S301L probably damaging Het
Cntnap2 T C 6: 45,037,326 (GRCm39) probably null Het
Cpn2 T C 16: 30,079,186 (GRCm39) R172G probably benign Het
Ctdnep1 T C 11: 69,879,557 (GRCm39) probably null Het
Dennd3 T A 15: 73,436,925 (GRCm39) Y1051N probably damaging Het
Dmap1 T G 4: 117,533,680 (GRCm39) Y196S probably damaging Het
Entpd7 G A 19: 43,692,751 (GRCm39) W102* probably null Het
Frem2 A T 3: 53,442,664 (GRCm39) C2624* probably null Het
Gdpd3 A G 7: 126,370,165 (GRCm39) Y238C probably damaging Het
Gjb3 A G 4: 127,220,451 (GRCm39) V27A probably damaging Het
Klra17 A T 6: 129,808,552 (GRCm39) M227K probably benign Het
Map6 A G 7: 98,966,824 (GRCm39) D348G possibly damaging Het
Mapkbp1 T C 2: 119,855,696 (GRCm39) S1472P probably benign Het
Megf6 C A 4: 154,339,098 (GRCm39) P545Q probably damaging Het
Mertk C T 2: 128,601,086 (GRCm39) R357W probably damaging Het
Mesd T A 7: 83,544,835 (GRCm39) I104N probably damaging Het
Mrm3 T A 11: 76,140,781 (GRCm39) V263E possibly damaging Het
Ndst4 T A 3: 125,405,210 (GRCm39) Y488* probably null Het
Nfat5 C T 8: 108,065,707 (GRCm39) R156W probably damaging Het
Nfs1 T C 2: 155,976,444 (GRCm39) H150R probably damaging Het
Odad3 A T 9: 21,906,353 (GRCm39) N224K probably benign Het
Or1n1b A G 2: 36,780,035 (GRCm39) M275T probably benign Het
Or8b56 T C 9: 38,739,154 (GRCm39) S50P possibly damaging Het
Or8g19 T A 9: 39,055,399 (GRCm39) M1K probably null Het
Or9q1 A G 19: 13,804,929 (GRCm39) F277S possibly damaging Het
Pcdh8 T C 14: 80,004,848 (GRCm39) Y1059C probably damaging Het
Pik3r5 T A 11: 68,381,306 (GRCm39) L164Q probably damaging Het
Polr3g T C 13: 81,824,240 (GRCm39) probably benign Het
Ppm1e T A 11: 87,122,564 (GRCm39) K464N probably benign Het
Rims1 T C 1: 22,416,631 (GRCm39) T1037A probably damaging Het
Rpgrip1l A T 8: 91,996,750 (GRCm39) I108N probably damaging Het
Sfi1 CCTCTC CCTCTCTC 11: 3,127,419 (GRCm39) probably benign Het
Spem1 T C 11: 69,712,371 (GRCm39) K98E possibly damaging Het
St7l T C 3: 104,796,619 (GRCm39) V237A probably damaging Het
Tbc1d16 T C 11: 119,048,642 (GRCm39) H337R probably damaging Het
Tbc1d32 T A 10: 55,893,701 (GRCm39) I1291F probably benign Het
Tnfaip6 G T 2: 51,933,827 (GRCm39) E61* probably null Het
Trib2 A T 12: 15,843,929 (GRCm39) W102R probably damaging Het
Uimc1 G T 13: 55,233,457 (GRCm39) N66K probably damaging Het
Vmn1r63 T A 7: 5,805,838 (GRCm39) T265S probably benign Het
Vps35 G A 8: 86,021,582 (GRCm39) T3I probably benign Het
Yeats2 T A 16: 19,975,692 (GRCm39) L63* probably null Het
Zfp282 A G 6: 47,869,866 (GRCm39) R304G probably benign 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
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
R9526:Kat6b UTSW 14 21,567,564 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- GCAGATGTCCAACATCAGTGGGAG -3'
(R):5'- GACTGCGAAAGCTGAACAAGCC -3'

Sequencing Primer
(F):5'- AACCTGCAGCGTCAAGTCTC -3'
(R):5'- GCTGAACAAGCCCTGTGTTAC -3'
Posted On 2013-07-24