Incidental Mutation 'R8167:Kat6b'
ID 633867
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 067593-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.912) question?
Stock # R8167 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 21549284-21722546 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 21719953 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 1435 (T1435I)
Ref Sequence ENSEMBL: ENSMUSP00000138511 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069648] [ENSMUST00000112458] [ENSMUST00000182405] [ENSMUST00000182855] [ENSMUST00000182964]
AlphaFold Q8BRB7
Predicted Effect possibly damaging
Transcript: ENSMUST00000069648
AA Change: T1544I

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000066693
Gene: ENSMUSG00000021767
AA Change: T1544I

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 damaging
Transcript: ENSMUST00000182405
AA Change: T1435I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000138377
Gene: ENSMUSG00000021767
AA Change: T1435I

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: T1435I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000138511
Gene: ENSMUSG00000021767
AA Change: T1435I

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: T1544I

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000138421
Gene: ENSMUSG00000021767
AA Change: T1544I

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: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406B18Rik T A 7: 43,147,288 (GRCm39) I315F possibly damaging Het
Aadacl2fm3 T A 3: 59,784,632 (GRCm39) D368E probably benign Het
Acin1 G A 14: 54,902,337 (GRCm39) T485I probably benign Het
Adamts2 A T 11: 50,670,541 (GRCm39) I552F probably damaging Het
Anapc11 T A 11: 120,490,112 (GRCm39) N9K probably benign Het
Arhgef18 A T 8: 3,403,636 (GRCm39) probably benign Het
Atp9b T C 18: 80,890,398 (GRCm39) T314A Het
Birc6 T A 17: 74,950,389 (GRCm39) I3214N probably damaging Het
Catsperb A G 12: 101,557,714 (GRCm39) I762V probably benign Het
Cblb T A 16: 51,986,365 (GRCm39) M536K probably benign Het
Ccdc85c C A 12: 108,240,759 (GRCm39) A212S unknown Het
Cdh23 T A 10: 60,150,162 (GRCm39) D2561V probably benign Het
Cdh23 T A 10: 60,173,472 (GRCm39) Y1672F probably damaging Het
Cep83 T C 10: 94,564,579 (GRCm39) S173P possibly damaging Het
Ctc1 C T 11: 68,918,584 (GRCm39) P530S probably damaging Het
D630045J12Rik A G 6: 38,167,484 (GRCm39) probably null Het
Dnah7b A T 1: 46,292,671 (GRCm39) I3019F possibly damaging Het
Dsc1 T C 18: 20,230,258 (GRCm39) D349G probably damaging Het
Ehd2 C G 7: 15,697,917 (GRCm39) G107R probably damaging Het
Epha3 A T 16: 63,388,804 (GRCm39) W816R probably damaging Het
Fam135b T A 15: 71,404,840 (GRCm39) S69C probably null Het
Fbxo43 A G 15: 36,151,917 (GRCm39) F600S probably damaging Het
Flnc A T 6: 29,455,921 (GRCm39) D2117V probably damaging Het
Gas2l3 T A 10: 89,262,342 (GRCm39) T127S probably damaging Het
Gli3 T G 13: 15,900,228 (GRCm39) L1205R probably benign Het
Gm17093 A T 14: 44,758,139 (GRCm39) I107F Het
Gm7298 T A 6: 121,761,414 (GRCm39) C1323* probably null Het
H2-D1 A G 17: 35,485,741 (GRCm39) T89A Het
Hira T G 16: 18,715,259 (GRCm39) D52E probably benign Het
Ighv6-6 G C 12: 114,398,525 (GRCm39) Y80* probably null Het
Kcna1 C A 6: 126,620,443 (GRCm39) probably benign Het
Kif24 C A 4: 41,392,957 (GRCm39) R1284L possibly damaging Het
Kremen2 A C 17: 23,962,314 (GRCm39) C173G probably damaging Het
Krtap24-1 G C 16: 88,408,707 (GRCm39) Q140E probably benign Het
Lrrc66 C A 5: 73,786,952 (GRCm39) G133* probably null Het
Mast1 C A 8: 85,647,987 (GRCm39) R498L probably damaging Het
Myom3 T C 4: 135,534,504 (GRCm39) I1231T possibly damaging Het
Nid2 G A 14: 19,860,131 (GRCm39) V1350I possibly damaging Het
Or4f59 A T 2: 111,872,789 (GRCm39) V196D possibly damaging Het
Or8j3c A G 2: 86,253,484 (GRCm39) C179R probably damaging Het
Or9r3 T C 10: 129,948,350 (GRCm39) Q103R probably damaging Het
Pde4a A G 9: 21,117,469 (GRCm39) D577G possibly damaging Het
Pde4d T A 13: 109,578,855 (GRCm39) N36K probably benign Het
Plekhg1 A T 10: 3,907,452 (GRCm39) S845C Het
Plekhg1 G A 10: 3,907,453 (GRCm39) S845N Het
Plod1 C T 4: 148,004,658 (GRCm39) D481N probably damaging Het
Plxna4 T A 6: 32,493,981 (GRCm39) M212L probably damaging Het
Ppip5k1 C A 2: 121,173,282 (GRCm39) E464* probably null Het
Raph1 T A 1: 60,529,270 (GRCm39) M664L unknown Het
Rbm11 A C 16: 75,395,673 (GRCm39) M115L probably benign Het
Rerg T C 6: 137,034,869 (GRCm39) H45R possibly damaging Het
Rnf43 A G 11: 87,618,232 (GRCm39) E47G probably benign Het
Rsph1 A G 17: 31,496,260 (GRCm39) probably benign Het
Safb A G 17: 56,892,286 (GRCm39) E42G unknown Het
Scn1a A T 2: 66,155,182 (GRCm39) D592E probably damaging Het
Sdf4 T G 4: 156,093,379 (GRCm39) V237G possibly damaging Het
Slc44a2 C A 9: 21,258,068 (GRCm39) H439Q possibly damaging Het
Smg7 A T 1: 152,720,123 (GRCm39) N761K possibly damaging Het
Snrpb2 A G 2: 142,910,284 (GRCm39) E114G probably benign Het
Spmip11 A G 15: 98,486,548 (GRCm39) H106R probably benign Het
Ssh1 T C 5: 114,090,051 (GRCm39) D346G possibly damaging Het
Svopl T A 6: 37,993,979 (GRCm39) I351F probably damaging Het
Tgfb2 A G 1: 186,422,942 (GRCm39) S136P possibly damaging Het
Thsd7a A T 6: 12,317,400 (GRCm39) L1636* probably null Het
Tmc2 A G 2: 130,083,488 (GRCm39) T482A probably benign Het
Tnk2 C A 16: 32,499,080 (GRCm39) P798T probably damaging Het
Trim5 T C 7: 103,927,630 (GRCm39) Y170C probably damaging Het
Ttll10 T C 4: 156,129,213 (GRCm39) M310V probably null Het
Unc13c T A 9: 73,643,985 (GRCm39) T1160S probably damaging Het
Usp25 A T 16: 76,904,819 (GRCm39) D795V probably damaging Het
Usp28 T A 9: 48,949,148 (GRCm39) V914E probably damaging Het
Utrn A T 10: 12,547,558 (GRCm39) C1627* probably null Het
Vmn1r28 C A 6: 58,243,052 (GRCm39) F298L noncoding transcript Het
Vps29 T C 5: 122,500,877 (GRCm39) S69P possibly damaging Het
Zfp703 T A 8: 27,469,782 (GRCm39) L482H probably 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
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'- CATGGGAGGCAGTATCTGTG -3'
(R):5'- ACTGCTGCAGTTTGGCAAG -3'

Sequencing Primer
(F):5'- CAGTATCTGTGGAAACGGCTC -3'
(R):5'- CTGCAGTTTGGCAAGGCTGAAG -3'
Posted On 2020-07-13