Incidental Mutation 'R1873:Kat6b'
ID 210969
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 039895-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.912) question?
Stock # R1873 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 21549284-21722546 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 21567057 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 39 (S39P)
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: S39P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000066693
Gene: ENSMUSG00000021767
AA Change: S39P

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: S39P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000108077
Gene: ENSMUSG00000021767
AA Change: S39P

DomainStartEndE-ValueType
H15 94 159 3.4e-1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000182405
AA Change: S39P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000138377
Gene: ENSMUSG00000021767
AA Change: S39P

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: S39P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000138511
Gene: ENSMUSG00000021767
AA Change: S39P

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: S39P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000138421
Gene: ENSMUSG00000021767
AA Change: S39P

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: S39P

PolyPhen 2 Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183201
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183055
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183228
Meta Mutation Damage Score 0.1068 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.4%
  • 20x: 92.9%
Validation Efficiency 98% (82/84)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T A 11: 109,870,781 (GRCm39) I124L probably benign Het
Abi3bp A G 16: 56,394,862 (GRCm39) Y190C probably damaging Het
Adam34 A C 8: 44,104,843 (GRCm39) N267K probably benign Het
Anxa5 T C 3: 36,503,551 (GRCm39) D301G probably damaging Het
Atf7ip G T 6: 136,536,886 (GRCm39) D40Y probably damaging Het
Cacna2d2 T G 9: 107,391,071 (GRCm39) M400R probably damaging Het
Cd96 C A 16: 45,938,335 (GRCm39) L43F probably damaging Het
Cep120 T C 18: 53,871,560 (GRCm39) E104G probably damaging Het
Cfap221 T C 1: 119,881,389 (GRCm39) I358V probably benign Het
Cfhr4 C T 1: 139,702,398 (GRCm39) E29K probably damaging Het
Chil4 C T 3: 106,113,414 (GRCm39) E168K probably benign Het
Clca3a1 A G 3: 144,452,590 (GRCm39) V631A probably damaging Het
Cluh C T 11: 74,552,902 (GRCm39) A649V possibly damaging Het
Commd9 A G 2: 101,727,502 (GRCm39) T99A probably benign Het
Csgalnact1 T C 8: 68,854,036 (GRCm39) N255S probably benign Het
Cyth3 T A 5: 143,683,516 (GRCm39) H138Q possibly damaging Het
Dnah7a A T 1: 53,495,691 (GRCm39) probably benign Het
Fbxl18 G A 5: 142,871,978 (GRCm39) A419V probably damaging Het
Fyco1 A G 9: 123,652,303 (GRCm39) V1135A probably benign Het
Glcci1 C A 6: 8,537,837 (GRCm39) H152N probably benign Het
Gm10477 T A X: 55,570,127 (GRCm39) F9Y probably damaging Het
Gnrhr A G 5: 86,330,060 (GRCm39) L320P probably damaging Het
Gorasp1 A T 9: 119,759,306 (GRCm39) S138T probably benign Het
Hars1 C A 18: 36,900,294 (GRCm39) Q469H probably damaging Het
Homer2 T C 7: 81,286,111 (GRCm39) K34E probably damaging Het
Hscb T C 5: 110,978,823 (GRCm39) I198V probably benign Het
Kcnk12 G T 17: 88,053,499 (GRCm39) Q388K probably damaging Het
Kcnq3 A G 15: 65,874,104 (GRCm39) I548T probably benign Het
Mark2 A G 19: 7,261,880 (GRCm39) Y351H probably damaging Het
Masp2 A T 4: 148,698,952 (GRCm39) I678F probably damaging Het
Mc4r A T 18: 66,992,531 (GRCm39) I194N probably damaging Het
Ms4a6d A G 19: 11,579,223 (GRCm39) S85P probably damaging Het
Myh4 T A 11: 67,145,569 (GRCm39) Y1351N probably benign Het
Myo16 A G 8: 10,322,789 (GRCm39) D73G probably damaging Het
Mzt1 C T 14: 99,278,097 (GRCm39) probably null Het
Nalcn G A 14: 123,521,013 (GRCm39) H1631Y probably benign Het
Ncf2 A G 1: 152,701,661 (GRCm39) N213S probably benign Het
Nf1 C A 11: 79,437,987 (GRCm39) T99K probably damaging Het
Nsf T C 11: 103,749,843 (GRCm39) S547G probably damaging Het
Ntrk3 T A 7: 78,112,587 (GRCm39) I190F probably benign Het
Obsl1 T C 1: 75,474,877 (GRCm39) Y841C probably damaging Het
Ogdh A T 11: 6,290,438 (GRCm39) probably benign Het
Or2ag12 T A 7: 106,277,691 (GRCm39) M1L probably damaging Het
Or5b12 C T 19: 12,896,852 (GRCm39) V274M probably damaging Het
Otog G A 7: 45,918,767 (GRCm39) V948I probably damaging Het
Plekhm1 T C 11: 103,264,824 (GRCm39) D880G probably benign Het
Pnliprp2 G T 19: 58,751,821 (GRCm39) V189L probably benign Het
Polg A G 7: 79,106,241 (GRCm39) L678S probably benign Het
Ptprm C T 17: 66,995,350 (GRCm39) V1293I probably damaging Het
Pwwp3a T A 10: 80,068,442 (GRCm39) D195E possibly damaging Het
Rhou A T 8: 124,387,990 (GRCm39) R241W probably damaging Het
Rtn4 A T 11: 29,686,437 (GRCm39) N264I probably damaging Het
Sez6l T C 5: 112,621,276 (GRCm39) probably benign Het
Sost T C 11: 101,855,069 (GRCm39) E80G probably damaging Het
Spag16 C T 1: 69,935,744 (GRCm39) probably benign Het
Speer4f2 A T 5: 17,579,447 (GRCm39) N82I probably damaging Het
Spef2 C T 15: 9,584,194 (GRCm39) E1624K probably damaging Het
Taf1b T A 12: 24,606,668 (GRCm39) L496Q possibly damaging Het
Tarbp1 A G 8: 127,173,786 (GRCm39) I976T probably damaging Het
Tex14 T A 11: 87,390,431 (GRCm39) V376D probably damaging Het
Timm21 G C 18: 84,967,387 (GRCm39) L130V probably damaging Het
Tm9sf1 T C 14: 55,873,680 (GRCm39) D606G probably damaging Het
Tmc2 A C 2: 130,090,676 (GRCm39) N674T possibly damaging Het
Top3a C A 11: 60,638,810 (GRCm39) E562* probably null Het
Umodl1 A T 17: 31,201,238 (GRCm39) D389V probably damaging Het
Uso1 T C 5: 92,340,718 (GRCm39) probably benign Het
Vmn1r205 A G 13: 22,776,223 (GRCm39) V293A possibly damaging Het
Vmn2r107 A G 17: 20,565,840 (GRCm39) T52A probably benign Het
Vmn2r4 C T 3: 64,298,479 (GRCm39) V461I possibly damaging Het
Vmn2r99 A T 17: 19,582,415 (GRCm39) I7F probably benign Het
Vps11 A G 9: 44,271,233 (GRCm39) F80S probably damaging Het
Wdr43 A G 17: 71,940,647 (GRCm39) S258G probably benign Het
Zbtb24 A G 10: 41,327,123 (GRCm39) D3G probably benign Het
Zc3hav1 C T 6: 38,309,692 (GRCm39) V377I possibly damaging Het
Zfp668 T C 7: 127,465,654 (GRCm39) probably null 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
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'- GTACAAGGCGAATCTCTATGGG -3'
(R):5'- CAAGGCCTTCGATTGCTCTC -3'

Sequencing Primer
(F):5'- AGGCGAATCTCTATGGGTAACGTC -3'
(R):5'- TGCGTAGATCATTACACGGC -3'
Posted On 2014-06-30