Mutagenetix > Incidental Mutation

Incidental Mutation 'R4178:Kat6b'

319603

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

040864-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.912) question?

Stock #

R4178 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

21549284-21722546 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 21668972 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 249 (C249*)

Ref Sequence

ENSEMBL: ENSMUSP00000138421 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069648] [ENSMUST00000112458] [ENSMUST00000182405] [ENSMUST00000182855] [ENSMUST00000182964]

AlphaFold

Q8BRB7

Predicted Effect

probably null
Transcript: ENSMUST00000069648
AA Change: C249*

SMART Domains

Protein: ENSMUSP00000066693
Gene: ENSMUSG00000021767
AA Change: C249*

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
H15	94	159	3.4e-1	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000182405
AA Change: C249*

SMART Domains

Protein: ENSMUSP00000138377
Gene: ENSMUSG00000021767
AA Change: C249*

Domain	Start	End	E-Value	Type
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

noncoding transcript
Transcript: ENSMUST00000182553

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182732

Predicted Effect

probably null
Transcript: ENSMUST00000182855
AA Change: C249*

SMART Domains

Protein: ENSMUSP00000138511
Gene: ENSMUSG00000021767
AA Change: C249*

Domain	Start	End	E-Value	Type
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

noncoding transcript
Transcript: ENSMUST00000183055

Predicted Effect

probably null
Transcript: ENSMUST00000182964
AA Change: C249*

SMART Domains

Protein: ENSMUSP00000138421
Gene: ENSMUSG00000021767
AA Change: C249*

Domain	Start	End	E-Value	Type
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: ENSMUST00000183201

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.3%

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Antxrl	A	G	14: 33,776,928 (GRCm39)		probably null	Het
Atp2b2	A	T	6: 113,770,679 (GRCm39)	V410E	probably damaging	Het
C6	G	A	15: 4,764,621 (GRCm39)	V106I	probably benign	Het
Cdhr1	A	C	14: 36,804,896 (GRCm39)		probably null	Het
Cfap44	T	A	16: 44,272,216 (GRCm39)	L1323Q	possibly damaging	Het
Ehd4	T	A	2: 119,984,829 (GRCm39)	Y43F	probably damaging	Het
Eno1	T	C	4: 150,328,490 (GRCm39)	I90T	possibly damaging	Het
Epb41l1	A	G	2: 156,363,477 (GRCm39)	Y662C	probably benign	Het
Fkbp14	A	G	6: 54,566,299 (GRCm39)	L103P	probably damaging	Het
Gm10322	C	A	10: 59,452,052 (GRCm39)	N56K	probably benign	Het
Iqcd	C	A	5: 120,740,476 (GRCm39)	T269K	probably damaging	Het
Kcnab2	T	C	4: 152,489,058 (GRCm39)	R109G	probably null	Het
Obox7	A	G	7: 14,398,032 (GRCm39)	Q24R	probably damaging	Het
Obox7	C	A	7: 14,398,031 (GRCm39)	Q24K	probably damaging	Het
Or5p1	A	G	7: 107,916,565 (GRCm39)	N155D	probably damaging	Het
Or5p68	G	A	7: 107,945,765 (GRCm39)	T141I	probably benign	Het
Or8g18	A	C	9: 39,149,375 (GRCm39)	L115*	probably null	Het
Rasgrf2	C	T	13: 92,038,717 (GRCm39)	G1043D	probably damaging	Het
Slf1	A	G	13: 77,191,688 (GRCm39)	S1049P	probably damaging	Het
Smc1b	A	T	15: 85,004,848 (GRCm39)	F409I	possibly damaging	Het
Tab2	A	G	10: 7,795,123 (GRCm39)	V453A	probably damaging	Het
Ubr4	A	G	4: 139,120,725 (GRCm39)	Y338C	probably damaging	Het
Usp6nl	A	G	2: 6,445,787 (GRCm39)	E588G	probably benign	Het
Vcan	T	C	13: 89,873,666 (GRCm39)	R63G	probably damaging	Het
Zfp775	A	G	6: 48,590,187 (GRCm39)		probably null	Het
Zfpm2	T	C	15: 40,966,940 (GRCm39)	C1010R	probably damaging	Het

Other mutations in Kat6b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- GGGTTACCTCAGGGAAAGTC -3'
(R):5'- ATTGTGTTGGAGGAAGAGCC -3'

Sequencing Primer
(F):5'- GGTTACCTCAGGGAAAGTCTCATAC -3'
(R):5'- CCCCCTCCATCACCGCC -3'

Posted On

2015-06-10