Incidental Mutation 'R2152:Kat6b'
ID 234433
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 040155-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.934) question?
Stock # R2152 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 21549284-21722546 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 21718735 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 1138 (H1138L)
Ref Sequence ENSEMBL: ENSMUSP00000138421 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069648] [ENSMUST00000112458] [ENSMUST00000182405] [ENSMUST00000182855] [ENSMUST00000182964]
AlphaFold Q8BRB7
Predicted Effect probably benign
Transcript: ENSMUST00000069648
AA Change: H1138L

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000066693
Gene: ENSMUSG00000021767
AA Change: H1138L

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
AA Change: H1029L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000138377
Gene: ENSMUSG00000021767
AA Change: H1029L

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
AA Change: H1029L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000138511
Gene: ENSMUSG00000021767
AA Change: H1029L

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: H1138L

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000138421
Gene: ENSMUSG00000021767
AA Change: H1138L

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
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: 108 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr3 A T 1: 90,141,565 (GRCm39) Y8F probably benign Het
Acy1 T C 9: 106,312,816 (GRCm39) E175G probably damaging Het
Add2 T C 6: 86,075,580 (GRCm39) L243P probably damaging Het
Adsl A G 15: 80,851,863 (GRCm39) D407G probably damaging Het
Afg3l1 T G 8: 124,221,575 (GRCm39) I478S probably damaging Het
Aoc1l1 T A 6: 48,953,473 (GRCm39) I466N probably damaging Het
Arfrp1 T C 2: 181,001,487 (GRCm39) T108A probably benign Het
Art5 A G 7: 101,747,407 (GRCm39) L124P possibly damaging Het
Asap2 A T 12: 21,162,084 (GRCm39) T14S probably damaging Het
Atp2c2 A G 8: 120,482,841 (GRCm39) N901S probably benign Het
Bbs12 G T 3: 37,375,309 (GRCm39) E586* probably null Het
Bicd2 G T 13: 49,533,052 (GRCm39) C546F probably damaging Het
Bid A T 6: 120,877,215 (GRCm39) L42Q probably damaging Het
Bpifb9a A G 2: 154,102,055 (GRCm39) K51E probably benign Het
Calcr G T 6: 3,687,615 (GRCm39) T424K probably benign Het
Cd46 A G 1: 194,744,721 (GRCm39) I339T probably benign Het
Chek1 C A 9: 36,635,279 (GRCm39) V35F probably damaging Het
Cntn3 A G 6: 102,183,498 (GRCm39) I719T probably damaging Het
Cyb5r1 T C 1: 134,337,363 (GRCm39) I163T possibly damaging Het
Cyp2d26 A T 15: 82,676,907 (GRCm39) probably null Het
Dclk1 A G 3: 55,154,633 (GRCm39) Y21C probably damaging Het
Dgcr2 G A 16: 17,709,351 (GRCm39) probably null Het
Dhx38 T C 8: 110,287,306 (GRCm39) S221G probably benign Het
Dis3l T A 9: 64,214,545 (GRCm39) N981I probably benign Het
Dnah3 C T 7: 119,551,236 (GRCm39) V3028I probably benign Het
Dnah6 T C 6: 73,026,149 (GRCm39) Y3448C probably benign Het
Dok5 G A 2: 170,642,816 (GRCm39) G38D probably damaging Het
Epb41l1 A G 2: 156,356,048 (GRCm39) D528G probably damaging Het
Fat4 A T 3: 39,037,544 (GRCm39) Y3732F probably damaging Het
Fcsk T A 8: 111,615,704 (GRCm39) T542S probably benign Het
Fgfr4 A T 13: 55,314,777 (GRCm39) Y640F probably damaging Het
Foxo6 T A 4: 120,125,811 (GRCm39) D328V probably benign Het
Foxp1 A G 6: 98,993,502 (GRCm39) L134P probably damaging Het
Frem2 G A 3: 53,424,450 (GRCm39) R2996* probably null Het
Garem2 T C 5: 30,313,297 (GRCm39) S54P probably damaging Het
Gcn1 T A 5: 115,747,888 (GRCm39) I1765N probably benign Het
Gm4787 T A 12: 81,423,993 (GRCm39) I722F probably benign Het
Gpc6 G T 14: 117,163,504 (GRCm39) A53S probably benign Het
Gtpbp8 A G 16: 44,560,390 (GRCm39) probably null Het
H2-Q2 T C 17: 35,564,252 (GRCm39) probably null Het
Hapln2 C A 3: 87,930,920 (GRCm39) R157L probably benign Het
Hemgn C A 4: 46,396,607 (GRCm39) E210* probably null Het
Hpse T A 5: 100,839,269 (GRCm39) K360* probably null Het
Iqcj A T 3: 67,962,643 (GRCm39) E68V probably damaging Het
Kat2a T C 11: 100,603,172 (GRCm39) probably benign Het
Kcnab1 A T 3: 65,278,861 (GRCm39) I371F probably damaging Het
Klhl30 C A 1: 91,285,546 (GRCm39) A356D probably benign Het
Klra3 G C 6: 130,310,107 (GRCm39) R138G probably benign Het
Micu1 G T 10: 59,699,110 (GRCm39) M468I probably benign Het
Mrc1 A G 2: 14,332,675 (GRCm39) T1292A probably damaging Het
Myh8 G A 11: 67,185,295 (GRCm39) E849K probably damaging Het
Myom3 G T 4: 135,530,544 (GRCm39) R1152L probably benign Het
Nedd4l T A 18: 65,343,401 (GRCm39) H820Q probably damaging Het
Nlrp4g T A 9: 124,353,339 (GRCm38) noncoding transcript Het
Oga A T 19: 45,746,461 (GRCm39) Y779* probably null Het
Or13p5 C T 4: 118,592,446 (GRCm39) A240V possibly damaging Het
Or1m1 T C 9: 18,666,391 (GRCm39) D180G probably damaging Het
Or2a51 A G 6: 43,179,003 (GRCm39) I142V probably benign Het
Or51a39 G T 7: 102,362,788 (GRCm39) H277Q probably benign Het
Or52j3 A T 7: 102,835,847 (GRCm39) D13V probably benign Het
Or8b49 G T 9: 38,505,707 (GRCm39) L63F probably damaging Het
Or8g54 A T 9: 39,706,943 (GRCm39) I91F probably benign Het
Or9s23 T C 1: 92,501,630 (GRCm39) S246P probably damaging Het
Otop1 T A 5: 38,460,194 (GRCm39) M587K probably damaging Het
Pgm5 T A 19: 24,812,179 (GRCm39) I118F probably damaging Het
Phc2 A G 4: 128,638,859 (GRCm39) *41W probably null Het
Phf8-ps T A 17: 33,285,908 (GRCm39) D298V probably damaging Het
Piezo2 A T 18: 63,247,112 (GRCm39) M532K probably damaging Het
Pjvk A T 2: 76,488,713 (GRCm39) I295F probably benign Het
Popdc2 A G 16: 38,183,482 (GRCm39) N155S possibly damaging Het
Ppp4r3a G T 12: 101,008,826 (GRCm39) N684K probably damaging Het
Prpf4b T A 13: 35,084,402 (GRCm39) M930K probably benign Het
Ptpn12 C A 5: 21,207,466 (GRCm39) Q297H probably damaging Het
Ptprz1 C A 6: 23,030,670 (GRCm39) L1010I probably damaging Het
Rabepk A T 2: 34,674,562 (GRCm39) D232E possibly damaging Het
Rad51ap2 A G 12: 11,507,986 (GRCm39) H636R probably benign Het
Rb1 T C 14: 73,526,165 (GRCm39) T169A probably benign Het
Rcc2 T C 4: 140,444,428 (GRCm39) L373P probably damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rrbp1 A G 2: 143,796,118 (GRCm39) L1200P possibly damaging Het
Sdk1 A G 5: 141,778,699 (GRCm39) N226D probably damaging Het
Selenbp1 G A 3: 94,851,441 (GRCm39) R398H probably damaging Het
Selenoo A G 15: 88,983,485 (GRCm39) M509V probably benign Het
Sidt2 T C 9: 45,856,638 (GRCm39) D477G probably damaging Het
Slc2a5 T G 4: 150,210,095 (GRCm39) S27A probably damaging Het
Slc30a5 A T 13: 100,940,457 (GRCm39) H619Q probably damaging Het
Slc5a9 A G 4: 111,750,420 (GRCm39) I146T possibly damaging Het
Slc6a1 G T 6: 114,284,731 (GRCm39) G263V probably damaging Het
Slmap A G 14: 26,139,402 (GRCm39) Y771H probably damaging Het
Snx29 A G 16: 11,218,707 (GRCm39) D181G possibly damaging Het
Spata31d1c G A 13: 65,181,779 (GRCm39) probably null Het
Stat5a C A 11: 100,764,916 (GRCm39) T213N probably benign Het
Stt3a A T 9: 36,659,292 (GRCm39) V349D probably damaging Het
Tcf20 A T 15: 82,739,803 (GRCm39) D549E probably damaging Het
Thbs2 T A 17: 14,893,471 (GRCm39) D903V probably damaging Het
Tln2 T C 9: 67,209,842 (GRCm39) T432A probably damaging Het
Tmc1 A T 19: 20,834,039 (GRCm39) N241K probably benign Het
Tmem260 G T 14: 48,715,066 (GRCm39) R240L possibly damaging Het
Tnfaip6 A T 2: 51,933,742 (GRCm39) E32D probably damaging Het
Trpa1 A T 1: 14,969,625 (GRCm39) H381Q probably damaging Het
Tsen2 T C 6: 115,524,936 (GRCm39) I45T possibly damaging Het
Ttc6 G A 12: 57,752,338 (GRCm39) V1415I probably damaging Het
Ttll7 G T 3: 146,635,944 (GRCm39) R426L probably damaging Het
Ttn A C 2: 76,570,482 (GRCm39) S26804A probably damaging Het
Ubqlnl A T 7: 103,797,890 (GRCm39) C536S probably benign Het
Vmn2r73 A G 7: 85,506,936 (GRCm39) V792A probably benign Het
Zfp345 T C 2: 150,314,578 (GRCm39) T320A probably benign Het
Zfp407 T C 18: 84,227,774 (GRCm39) D1945G 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
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'- AGACGGGCTTCAAGCTGAAC -3'
(R):5'- ACAGGGTCTTCCTTTTCCATGG -3'

Sequencing Primer
(F):5'- GGCTTCAAGCTGAACCTGTAC -3'
(R):5'- TCCATGGAGATCTCAGGCTC -3'
Posted On 2014-10-01