Incidental Mutation 'R9112:Kat6b'
ID 692330
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
Accession Numbers
Essential gene? Probably essential (E-score: 0.912) question?
Stock # R9112 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 21549284-21722546 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 21675256 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 474 (S474P)
Ref Sequence ENSEMBL: ENSMUSP00000066693 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069648] [ENSMUST00000112458] [ENSMUST00000182405] [ENSMUST00000182855] [ENSMUST00000182964]
AlphaFold Q8BRB7
Predicted Effect possibly damaging
Transcript: ENSMUST00000069648
AA Change: S474P

PolyPhen 2 Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000066693
Gene: ENSMUSG00000021767
AA Change: S474P

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
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 possibly damaging
Transcript: ENSMUST00000182964
AA Change: S474P

PolyPhen 2 Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000138421
Gene: ENSMUSG00000021767
AA Change: S474P

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (56/56)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310033P09Rik A G 11: 59,100,806 (GRCm39) S181G possibly damaging Het
5730596B20Rik A G 6: 52,156,413 (GRCm39) R160G unknown Het
Acy1 A G 9: 106,311,952 (GRCm39) Y262H probably benign Het
Adamts13 T C 2: 26,880,379 (GRCm39) S681P possibly damaging Het
Adgra3 C A 5: 50,118,395 (GRCm39) C1051F probably damaging Het
Afp T C 5: 90,652,289 (GRCm39) probably null Het
Agrn A T 4: 156,261,514 (GRCm39) V568E probably damaging Het
Ahnak A G 19: 8,987,149 (GRCm39) E2811G probably damaging Het
Ap1m1 C A 8: 72,994,066 (GRCm39) Y7* probably null Het
Apobec1 T A 6: 122,555,837 (GRCm39) T207S probably benign Het
Arhgap32 G A 9: 32,157,309 (GRCm39) R102Q probably damaging Het
Bcat2 T C 7: 45,237,446 (GRCm39) probably null Het
Cd209f T A 8: 4,155,802 (GRCm39) probably benign Het
Cox7c G A 13: 86,194,837 (GRCm39) probably benign Het
Cyp2d11 A G 15: 82,276,203 (GRCm39) V156A possibly damaging Het
Dhrs3 A T 4: 144,653,769 (GRCm39) T297S probably benign Het
Dip2c T C 13: 9,660,766 (GRCm39) C876R probably damaging Het
Eprs1 A T 1: 185,129,273 (GRCm39) I587F probably damaging Het
Fam13c A G 10: 70,286,978 (GRCm39) T81A probably benign Het
Flt4 A G 11: 49,524,064 (GRCm39) Y548C probably damaging Het
Garin2 T C 12: 78,757,202 (GRCm39) probably null Het
Gimap4 T A 6: 48,667,629 (GRCm39) V128E probably benign Het
Gm32742 A G 9: 51,060,735 (GRCm39) L856P possibly damaging Het
Gm5916 A G 9: 36,032,258 (GRCm39) Y59H probably damaging Het
Gnai3 A T 3: 108,030,990 (GRCm39) H57Q Het
Golga3 G T 5: 110,333,757 (GRCm39) R131L probably benign Het
Gpc6 A T 14: 117,424,088 (GRCm39) I59F probably benign Het
H2bc6 T C 13: 23,769,753 (GRCm39) M63V possibly damaging Het
Herc6 T C 6: 57,596,604 (GRCm39) S515P probably damaging Het
Ift74 T C 4: 94,575,103 (GRCm39) I518T probably benign Het
Klhl3 A C 13: 58,248,212 (GRCm39) I28S unknown Het
Klrh1 T A 6: 129,743,697 (GRCm39) I196F probably benign Het
Lipi A G 16: 75,359,159 (GRCm39) F259S probably damaging Het
Lrrc8a T A 2: 30,145,782 (GRCm39) S199T probably damaging Het
Map2 T A 1: 66,472,723 (GRCm39) C1709* probably null Het
Mrgprf A G 7: 144,861,503 (GRCm39) S22G probably benign Het
Myo1e G T 9: 70,274,983 (GRCm39) R712L probably benign Het
Nras A T 3: 102,967,658 (GRCm39) N85Y probably benign Het
Or4a71 C T 2: 89,358,337 (GRCm39) C139Y probably damaging Het
Or5b3 A T 19: 13,388,475 (GRCm39) I181F probably benign Het
Or6ae1 A G 7: 139,742,660 (GRCm39) S68P Het
Or9q2 T C 19: 13,772,780 (GRCm39) H65R probably damaging Het
Pcp2 T A 8: 3,674,638 (GRCm39) probably benign Het
Pigv T C 4: 133,392,079 (GRCm39) R364G probably benign Het
Plekhh3 T A 11: 101,061,625 (GRCm39) S30C probably damaging Het
Poglut3 A G 9: 53,295,530 (GRCm39) Y44C probably damaging Het
Pramel11 A C 4: 143,623,334 (GRCm39) V280G possibly damaging Het
Pramel51 C T 12: 88,144,055 (GRCm39) A261T possibly damaging Het
Rhof T C 5: 123,258,571 (GRCm39) probably benign Het
Rufy3 A T 5: 88,780,336 (GRCm39) E361D Het
Serpina1b T C 12: 103,698,699 (GRCm39) D50G probably benign Het
Sgsm2 G A 11: 74,756,222 (GRCm39) Q376* probably null Het
Slc18b1 A T 10: 23,692,262 (GRCm39) I246F probably damaging Het
Slc38a9 A T 13: 112,850,777 (GRCm39) N387I probably damaging Het
Synrg C G 11: 83,862,409 (GRCm39) P35A probably damaging Het
Tdrp T C 8: 14,005,796 (GRCm39) K42E probably damaging Het
Trappc10 A C 10: 78,029,201 (GRCm39) M1112R probably damaging Het
Ube2e1 A G 14: 18,285,203 (GRCm38) V90A probably damaging Het
Vwde C A 6: 13,205,051 (GRCm39) V277F possibly damaging Het
Zfyve16 A G 13: 92,659,563 (GRCm39) M116T 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
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
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'- TTGGCTGTTACAGACCCCAC -3'
(R):5'- AGACTGCTAAAGGAGGGCTCAC -3'

Sequencing Primer
(F):5'- GTTACAGACCCCACCCGGC -3'
(R):5'- CTAAAGGAGGGCTCACCGGAC -3'
Posted On 2021-12-30