Incidental Mutation 'IGL02516:Kat6b'
ID 296801
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kat6b
Ensembl Gene ENSMUSG00000021767
Gene Name K(lysine) acetyltransferase 6B
Synonyms monocytic leukemia, Myst4, B130044K16Rik, Morf, qkf, querkopf
Accession Numbers
Essential gene? Probably essential (E-score: 0.934) question?
Stock # IGL02516
Quality Score
Status
Chromosome 14
Chromosomal Location 21549284-21722546 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 21659936 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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
SMART Domains Protein: ENSMUSP00000066693
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
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 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 benign
Transcript: ENSMUST00000182964
SMART Domains Protein: ENSMUSP00000138421
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
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 noncoding transcript
Transcript: ENSMUST00000183055
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183201
Coding Region Coverage
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam32 C T 8: 25,388,612 (GRCm39) S364N probably damaging Het
Ano8 C T 8: 71,937,721 (GRCm39) G47D probably damaging Het
App T C 16: 84,752,305 (GRCm39) T743A probably damaging Het
Armc3 A G 2: 19,305,317 (GRCm39) K692E possibly damaging Het
Arpp21 T C 9: 112,014,729 (GRCm39) N25S probably damaging Het
Avpr1b G A 1: 131,528,367 (GRCm39) V297I probably damaging Het
Bpi A G 2: 158,109,651 (GRCm39) I200V possibly damaging Het
Cacna2d4 C T 6: 119,248,831 (GRCm39) probably benign Het
Cbarp A G 10: 79,971,379 (GRCm39) Y149H probably damaging Het
Ccdc85c T C 12: 108,241,160 (GRCm39) N78S unknown Het
Cdcp1 G T 9: 123,002,702 (GRCm39) L790M possibly damaging Het
Cdkn2d T A 9: 21,200,439 (GRCm39) I111F probably benign Het
Ctsr A G 13: 61,310,992 (GRCm39) V18A probably benign Het
Dapk1 A G 13: 60,844,161 (GRCm39) D60G probably damaging Het
Daw1 A C 1: 83,186,949 (GRCm39) N253T probably benign Het
Dcaf7 T A 11: 105,942,698 (GRCm39) I215N probably damaging Het
Ddc A C 11: 11,779,125 (GRCm39) L333R probably damaging Het
Dennd1a A G 2: 37,742,406 (GRCm39) probably null Het
Dnah10 C A 5: 124,864,395 (GRCm39) T2200K probably damaging Het
Dock6 T C 9: 21,713,881 (GRCm39) Y1883C probably damaging Het
Ecpas T C 4: 58,877,102 (GRCm39) E111G probably damaging Het
Eif2ak4 T A 2: 118,266,735 (GRCm39) I752N probably damaging Het
Fcho2 A G 13: 98,866,720 (GRCm39) I740T probably benign Het
Flnc A G 6: 29,450,840 (GRCm39) D1496G probably damaging Het
Fn1 A G 1: 71,676,482 (GRCm39) V583A possibly damaging Het
Greb1l A C 18: 10,537,064 (GRCm39) T1010P probably benign Het
Hs3st6 T C 17: 24,977,105 (GRCm39) L195P probably damaging Het
Hyi A G 4: 118,219,680 (GRCm39) E239G probably damaging Het
Ighv2-3 G T 12: 113,574,818 (GRCm39) Y112* probably null Het
Ints3 A G 3: 90,310,415 (GRCm39) F495S probably damaging Het
Itih2 T A 2: 10,102,728 (GRCm39) H802L probably benign Het
Jag2 C T 12: 112,874,186 (GRCm39) V990M probably damaging Het
Krtap4-8 C T 11: 99,671,168 (GRCm39) probably benign Het
Lhx4 A G 1: 155,578,003 (GRCm39) S380P probably damaging Het
Morn3 C A 5: 123,175,363 (GRCm39) E33* probably null Het
Mug2 C T 6: 122,047,802 (GRCm39) A771V probably damaging Het
N4bp3 A T 11: 51,535,161 (GRCm39) S343T probably benign Het
Nlrp1a T C 11: 71,005,286 (GRCm39) N643S probably damaging Het
Or2c1 A C 16: 3,657,200 (GRCm39) D121A probably damaging Het
Or2h1b T A 17: 37,462,163 (GRCm39) R79S possibly damaging Het
Or6c8 T A 10: 128,915,662 (GRCm39) M57L possibly damaging Het
Phc3 A G 3: 31,002,942 (GRCm39) F192S probably damaging Het
Pigq C T 17: 26,156,221 (GRCm39) R69H probably benign Het
Plk3 A G 4: 116,989,186 (GRCm39) C222R probably damaging Het
Pomt2 T C 12: 87,166,420 (GRCm39) T490A probably benign Het
Prss29 T C 17: 25,539,875 (GRCm39) I91T probably damaging Het
Ralgapb A T 2: 158,307,735 (GRCm39) probably benign Het
Sccpdh G A 1: 179,509,256 (GRCm39) G75D probably damaging Het
Serpine2 T C 1: 79,772,714 (GRCm39) probably benign Het
Sfr1 T G 19: 47,721,429 (GRCm39) probably null Het
Slc22a23 C A 13: 34,387,938 (GRCm39) C386F probably benign Het
Slc22a27 T C 19: 7,842,176 (GRCm39) K433R probably damaging Het
Slc39a12 T C 2: 14,405,146 (GRCm39) L246P probably damaging Het
Slc4a11 A G 2: 130,533,313 (GRCm39) I191T possibly damaging Het
Slc9c1 A G 16: 45,398,238 (GRCm39) N668D probably damaging Het
Supt16 A T 14: 52,421,421 (GRCm39) D41E possibly damaging Het
Tamalin G A 15: 101,126,932 (GRCm39) V137I probably damaging Het
Ugt2b37 A G 5: 87,388,741 (GRCm39) S491P probably damaging Het
Urb1 G T 16: 90,569,583 (GRCm39) T1381N possibly damaging Het
Usp8 A G 2: 126,584,094 (GRCm39) I423M probably benign Het
Vmn1r191 T A 13: 22,363,710 (GRCm39) I15F probably benign Het
Zbtb5 A T 4: 44,993,798 (GRCm39) Y529N probably damaging Het
Zfp541 T A 7: 15,816,918 (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
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
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
Posted On 2015-04-16