Incidental Mutation 'R0684:Kat6b'
ID 61084
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 038869-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.934) question?
Stock # R0684 (G1)
Quality Score 143
Status Validated
Chromosome 14
Chromosomal Location 21549284-21722546 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 21718849 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1176 (V1176A)
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: V1176A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000066693
Gene: ENSMUSG00000021767
AA Change: V1176A

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: V1067A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000138377
Gene: ENSMUSG00000021767
AA Change: V1067A

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: V1067A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000138511
Gene: ENSMUSG00000021767
AA Change: V1067A

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: V1176A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000138421
Gene: ENSMUSG00000021767
AA Change: V1176A

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: 98.4%
  • 10x: 96.1%
  • 20x: 88.8%
Validation Efficiency 100% (69/69)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam4 A T 12: 81,466,428 (GRCm39) L731H probably damaging Het
Adora2b C T 11: 62,139,995 (GRCm39) A23V probably benign Het
Ankrd17 T C 5: 90,411,857 (GRCm39) I1336V probably damaging Het
Asxl1 G A 2: 153,239,442 (GRCm39) R410H probably damaging Het
Atp8a2 T C 14: 60,260,593 (GRCm39) E419G probably benign Het
Atxn1l A T 8: 110,459,016 (GRCm39) N415K probably damaging Het
Bcl2l12 T A 7: 44,646,025 (GRCm39) T65S probably benign Het
Bdh2 A G 3: 134,996,774 (GRCm39) I90V probably benign Het
Bsph1 T A 7: 13,206,988 (GRCm39) N121K probably damaging Het
Cd96 T C 16: 45,938,153 (GRCm39) Y104C possibly damaging Het
Chdh T C 14: 29,753,570 (GRCm39) W160R probably damaging Het
Clock A G 5: 76,393,365 (GRCm39) F193L probably damaging Het
Copz1 A G 15: 103,204,958 (GRCm39) probably null Het
Cyp2c38 T C 19: 39,379,500 (GRCm39) T450A probably damaging Het
Cyp2d34 A T 15: 82,501,751 (GRCm39) I253K probably benign Het
Dhrs13 G T 11: 77,927,789 (GRCm39) A212S probably damaging Het
Ecsit T C 9: 21,987,796 (GRCm39) N81S probably benign Het
Efl1 A G 7: 82,301,094 (GRCm39) T33A probably damaging Het
Emid1 T C 11: 5,093,866 (GRCm39) R92G probably damaging Het
Ermp1 A G 19: 29,609,941 (GRCm39) probably benign Het
Fn1 A T 1: 71,634,968 (GRCm39) probably null Het
Hps5 A G 7: 46,432,893 (GRCm39) probably null Het
Hsd17b3 T C 13: 64,236,882 (GRCm39) M21V probably benign Het
Midn A G 10: 79,992,336 (GRCm39) K463E probably damaging Het
Mier1 A G 4: 102,996,631 (GRCm39) E103G probably damaging Het
Muc15 A G 2: 110,564,160 (GRCm39) N232S possibly damaging Het
Ncoa2 T A 1: 13,294,875 (GRCm39) E15V probably damaging Het
Or10a5 A T 7: 106,635,889 (GRCm39) N176Y probably damaging Het
Or2n1d A G 17: 38,646,735 (GRCm39) K229R probably benign Het
Or52n2b T A 7: 104,565,841 (GRCm39) T221S probably benign Het
Pate14 C T 9: 36,549,176 (GRCm39) G28E probably benign Het
Pigf A T 17: 87,327,923 (GRCm39) F115I probably benign Het
Prpsap1 A T 11: 116,362,317 (GRCm39) V355E probably damaging Het
Ptprk G T 10: 28,359,294 (GRCm39) probably benign Het
Rae1 G A 2: 172,846,957 (GRCm39) R67H probably damaging Het
Sema3a G A 5: 13,606,494 (GRCm39) probably null Het
Slc22a22 T C 15: 57,126,758 (GRCm39) T104A probably benign Het
Slc38a2 A T 15: 96,593,168 (GRCm39) L137* probably null Het
Smgc A G 15: 91,725,670 (GRCm39) probably benign Het
Syce3 A G 15: 89,274,648 (GRCm39) probably benign Het
Syt9 T A 7: 107,024,343 (GRCm39) W79R probably damaging Het
Tgoln1 A C 6: 72,592,974 (GRCm39) S169A probably benign Het
Thnsl1 A G 2: 21,216,477 (GRCm39) D77G probably benign Het
Tsr1 T A 11: 74,798,767 (GRCm39) V712E probably damaging Het
Wdr12 C T 1: 60,128,525 (GRCm39) probably benign Het
Xdh T A 17: 74,250,886 (GRCm39) N22I probably damaging Het
Zfp3 T A 11: 70,662,395 (GRCm39) L118Q probably benign Het
Zfp592 A G 7: 80,687,623 (GRCm39) N883D probably benign Het
Zfp609 T A 9: 65,638,483 (GRCm39) M250L probably benign Het
Zfp94 A T 7: 24,002,495 (GRCm39) S316T probably damaging Het
Zfp955b A G 17: 33,521,947 (GRCm39) N472S 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
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
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'- GCTTCAAGCTGAACCTGTACACCC -3'
(R):5'- AGGACATTGTGAGATCAACACCGC -3'

Sequencing Primer
(F):5'- AGAGACCGTGGATGCCTTG -3'
(R):5'- GCAGTTCATCAAGACTTCAGG -3'
Posted On 2013-07-30