Incidental Mutation 'R0441:Kat6b'
ID 39184
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 038642-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.912) question?
Stock # R0441 (G1)
Quality Score 219
Status Validated
Chromosome 14
Chromosomal Location 21549284-21722546 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 21720301 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 1551 (L1551P)
Ref Sequence ENSEMBL: ENSMUSP00000138511 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069648] [ENSMUST00000112458] [ENSMUST00000182405] [ENSMUST00000182855] [ENSMUST00000182964]
AlphaFold Q8BRB7
Predicted Effect probably damaging
Transcript: ENSMUST00000069648
AA Change: L1660P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000066693
Gene: ENSMUSG00000021767
AA Change: L1660P

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: L1551P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138377
Gene: ENSMUSG00000021767
AA Change: L1551P

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: L1551P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138511
Gene: ENSMUSG00000021767
AA Change: L1551P

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: ENSMUST00000182964
AA Change: L1660P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000138421
Gene: ENSMUSG00000021767
AA Change: L1660P

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 0.1270 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.6%
Validation Efficiency 100% (71/71)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik T C 4: 103,092,689 (GRCm39) probably benign Het
Adgrv1 G A 13: 81,545,345 (GRCm39) R5647* probably null Het
Agbl2 C T 2: 90,627,827 (GRCm39) R211* probably null Het
Akap9 A G 5: 4,011,714 (GRCm39) K806E probably benign Het
Ampd1 C G 3: 102,995,794 (GRCm39) L235V probably benign Het
Atcay T C 10: 81,060,294 (GRCm39) D14G possibly damaging Het
Atp8b4 C T 2: 126,220,626 (GRCm39) probably benign Het
Bmp8b T C 4: 123,018,308 (GRCm39) V393A probably damaging Het
Brca2 T A 5: 150,465,322 (GRCm39) D1695E probably damaging Het
Cdh15 A G 8: 123,587,705 (GRCm39) I210V probably damaging Het
Cep250 T C 2: 155,813,924 (GRCm39) L564P possibly damaging Het
Cmpk1 T C 4: 114,822,220 (GRCm39) T110A probably benign Het
Cpsf3 T G 12: 21,350,085 (GRCm39) I268S probably damaging Het
Csmd2 C T 4: 128,414,023 (GRCm39) A2621V probably benign Het
Cyp2c40 T C 19: 39,795,607 (GRCm39) probably benign Het
D430041D05Rik T A 2: 103,998,292 (GRCm39) Y1837F probably damaging Het
Degs2 A G 12: 108,668,469 (GRCm39) F10S probably damaging Het
Dytn T A 1: 63,717,933 (GRCm39) probably benign Het
Elfn2 G C 15: 78,557,795 (GRCm39) P251A probably benign Het
Epg5 T C 18: 78,066,486 (GRCm39) probably benign Het
Evc2 A G 5: 37,574,811 (GRCm39) D1022G probably damaging Het
Fat3 A G 9: 15,856,304 (GRCm39) probably benign Het
Fbn1 A T 2: 125,151,675 (GRCm39) probably null Het
Gm15217 T C 14: 46,620,676 (GRCm39) probably null Het
Gm17611 A T 13: 50,130,435 (GRCm39) noncoding transcript Het
Gpld1 G A 13: 25,146,303 (GRCm39) W182* probably null Het
Gsc T C 12: 104,439,353 (GRCm39) I8V probably damaging Het
Hck A G 2: 152,976,052 (GRCm39) K197R probably benign Het
Lrch1 C T 14: 75,184,985 (GRCm39) G39D possibly damaging Het
Macf1 T C 4: 123,259,148 (GRCm39) probably null Het
Mroh9 A T 1: 162,888,331 (GRCm39) V248E probably damaging Het
Mrps15 C A 4: 125,945,210 (GRCm39) probably benign Het
Naip2 A C 13: 100,298,290 (GRCm39) I582S probably benign Het
Ndufa5 T C 6: 24,522,750 (GRCm39) T31A probably benign Het
Nfyb A G 10: 82,586,594 (GRCm39) V190A possibly damaging Het
Nos2 A G 11: 78,819,409 (GRCm39) I40M probably benign Het
Or2f2 T C 6: 42,767,108 (GRCm39) I45T probably damaging Het
Or5ar1 A T 2: 85,671,859 (GRCm39) I92N probably damaging Het
Or8k37 A T 2: 86,469,674 (GRCm39) I126K probably damaging Het
Otog T C 7: 45,955,301 (GRCm39) S564P probably damaging Het
Pak5 C T 2: 135,958,549 (GRCm39) A180T probably benign Het
Pappa2 T C 1: 158,590,628 (GRCm39) probably benign Het
Pkd1l3 C G 8: 110,350,281 (GRCm39) D375E possibly damaging Het
Plxnc1 T A 10: 94,632,344 (GRCm39) N1431I probably damaging Het
Prph A T 15: 98,955,319 (GRCm39) I429L probably damaging Het
Prrc2a A G 17: 35,368,664 (GRCm39) probably benign Het
Pwwp3a A T 10: 80,064,859 (GRCm39) N30Y probably damaging Het
Rad54b A T 4: 11,563,394 (GRCm39) T18S probably benign Het
Ranbp2 A G 10: 58,321,590 (GRCm39) E2629G probably benign Het
Rec114 G A 9: 58,565,053 (GRCm39) T201I probably benign Het
Rspo1 G A 4: 124,885,190 (GRCm39) R22Q probably benign Het
Sec23b A G 2: 144,423,917 (GRCm39) E522G probably damaging Het
Sgsm3 G A 15: 80,893,971 (GRCm39) R502H possibly damaging Het
Sh3pxd2b C A 11: 32,373,023 (GRCm39) A730D possibly damaging Het
Spag4 A G 2: 155,909,899 (GRCm39) D187G probably damaging Het
Srgap2 G A 1: 131,264,175 (GRCm39) T465I probably damaging Het
St3gal6 G T 16: 58,293,818 (GRCm39) A237E probably damaging Het
St3gal6 C A 16: 58,293,816 (GRCm39) A238S probably damaging Het
Tecpr1 C A 5: 144,132,759 (GRCm39) R1159L probably benign Het
Tmem63b A T 17: 45,977,241 (GRCm39) probably null Het
Tmtc1 T A 6: 148,317,256 (GRCm39) D78V probably damaging Het
Tpp2 A G 1: 44,029,722 (GRCm39) N68D possibly damaging Het
Ttn C A 2: 76,770,269 (GRCm39) A2641S probably benign Het
Uimc1 T C 13: 55,241,032 (GRCm39) K19E probably damaging Het
Utrn T A 10: 12,564,038 (GRCm39) E1274V probably null Het
Vmn2r102 A T 17: 19,914,630 (GRCm39) I732F probably damaging Het
Wrn A T 8: 33,758,778 (GRCm39) M792K probably benign Het
Zfp451 A G 1: 33,816,126 (GRCm39) I608T 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
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
Predicted Primers PCR Primer
(F):5'- GCAGATGTCCAACATCAGTGGGAG -3'
(R):5'- GCAATCTGAGTTTGCAGTCTTTGGC -3'

Sequencing Primer
(F):5'- AGCATGGCCGCCAATTTC -3'
(R):5'- CTGTGGGAGATGCCAATATTTG -3'
Posted On 2013-05-23