Mutagenetix > Incidental Mutations

Incidental Mutation 'R6307:Kat6a'

509470

Institutional Source

Beutler Lab

Gene Symbol

Kat6a

Ensembl Gene

ENSMUSG00000031540

Gene Name

K(lysine) acetyltransferase 6A

Synonyms

Zfp220, MOZ, 9930021N24Rik, Myst3

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6307 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

22859535-22943259 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 22940368 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1913 (M1913K)

Ref Sequence

ENSEMBL: ENSMUSP00000106324 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044331] [ENSMUST00000110696]

Predicted Effect

unknown
Transcript: ENSMUST00000044331
AA Change: M1913K

SMART Domains

Protein: ENSMUSP00000038181
Gene: ENSMUSG00000031540
AA Change: M1913K

Domain	Start	End	E-Value	Type
H15	85	165	1.88e-5	SMART
low complexity region	184	195	N/A	INTRINSIC
PHD	208	263	1.7e-7	SMART
RING	209	262	1.28e0	SMART
PHD	264	311	9.84e-13	SMART
RING	265	310	4.15e0	SMART
low complexity region	371	378	N/A	INTRINSIC
Pfam:MOZ_SAS	561	748	5.9e-92	PFAM
low complexity region	787	800	N/A	INTRINSIC
low complexity region	985	1003	N/A	INTRINSIC
low complexity region	1011	1029	N/A	INTRINSIC
low complexity region	1031	1044	N/A	INTRINSIC
low complexity region	1066	1079	N/A	INTRINSIC
low complexity region	1149	1162	N/A	INTRINSIC
low complexity region	1224	1238	N/A	INTRINSIC
low complexity region	1257	1273	N/A	INTRINSIC
coiled coil region	1278	1308	N/A	INTRINSIC
low complexity region	1397	1409	N/A	INTRINSIC
low complexity region	1471	1490	N/A	INTRINSIC
low complexity region	1528	1542	N/A	INTRINSIC
low complexity region	1569	1597	N/A	INTRINSIC
low complexity region	1641	1700	N/A	INTRINSIC
low complexity region	1802	1813	N/A	INTRINSIC
low complexity region	1950	1958	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000110696
AA Change: M1913K

SMART Domains

Protein: ENSMUSP00000106324
Gene: ENSMUSG00000031540
AA Change: M1913K

Domain	Start	End	E-Value	Type
H15	85	165	1.88e-5	SMART
low complexity region	184	195	N/A	INTRINSIC
PHD	208	263	1.7e-7	SMART
RING	209	262	1.28e0	SMART
PHD	264	311	9.84e-13	SMART
RING	265	310	4.15e0	SMART
low complexity region	371	378	N/A	INTRINSIC
Pfam:MOZ_SAS	564	742	2.9e-85	PFAM
low complexity region	787	800	N/A	INTRINSIC
low complexity region	985	1003	N/A	INTRINSIC
low complexity region	1011	1029	N/A	INTRINSIC
low complexity region	1031	1044	N/A	INTRINSIC
low complexity region	1066	1079	N/A	INTRINSIC
low complexity region	1149	1162	N/A	INTRINSIC
low complexity region	1224	1238	N/A	INTRINSIC
low complexity region	1257	1273	N/A	INTRINSIC
coiled coil region	1278	1308	N/A	INTRINSIC
low complexity region	1397	1409	N/A	INTRINSIC
low complexity region	1471	1490	N/A	INTRINSIC
low complexity region	1528	1542	N/A	INTRINSIC
low complexity region	1569	1597	N/A	INTRINSIC
low complexity region	1641	1700	N/A	INTRINSIC
low complexity region	1802	1813	N/A	INTRINSIC
low complexity region	1950	1958	N/A	INTRINSIC

Meta Mutation Damage Score

0.2633

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the MOZ, YBFR2, SAS2, TIP60 family of histone acetyltransferases. The protein is composed of a nuclear localization domain, a double C2H2 zinc finger domain that binds to acetylated histone tails, a histone acetyl-transferase domain, a glutamate/aspartate-rich region, and a serine- and methionine-rich transactivation domain. It is part of a complex that acetylates lysine-9 residues in histone 3, and in addition, it acts as a co-activator for several transcription factors. Allelic variants of this gene are associated with autosomal dominant mental retardation-32. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Homozygous null mice display perinatal lethality, cyanosis, decreased hematopoietic progenitor cell numbers, and severely impaired spleen and thymus development, but are not anemic. Heterozygotes display strain background dependent reductions in fertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	C	10: 80,007,387	L1232P	probably damaging	Het
Akap6	A	T	12: 53,141,568	I1922F	possibly damaging	Het
Ankdd1a	C	T	9: 65,508,061	A227T	possibly damaging	Het
Arpc5	T	C	1: 152,771,455	V103A	possibly damaging	Het
Atp9a	C	A	2: 168,668,170	V430F	probably benign	Het
Bod1	A	G	11: 31,666,932	S110P	probably damaging	Het
Cacna1c	C	A	6: 118,613,953	V1453F	probably damaging	Het
Capn8	T	A	1: 182,607,699	M414K	probably damaging	Het
Cbl	A	T	9: 44,158,512		probably null	Het
Ccdc42	A	T	11: 68,588,280	Q98L	probably damaging	Het
Cd200	C	A	16: 45,397,182	V49L	probably benign	Het
Celsr1	A	G	15: 85,928,330	S2060P	probably benign	Het
Ces1g	A	T	8: 93,331,192	H160Q	possibly damaging	Het
Chrnb2	G	T	3: 89,761,524	H161Q	probably damaging	Het
Ctns	G	A	11: 73,191,733	T57I	probably benign	Het
Cyp3a25	A	T	5: 145,994,956	M114K	possibly damaging	Het
D630003M21Rik	A	G	2: 158,215,951	F536L	probably benign	Het
Dcc	C	T	18: 71,810,755	R275Q	probably benign	Het
Dmxl2	A	T	9: 54,382,706	H2508Q	possibly damaging	Het
Elf5	C	A	2: 103,439,412	Q113K	probably damaging	Het
Fam83a	T	G	15: 57,986,111	V17G	possibly damaging	Het
Farsa	T	C	8: 84,861,045		probably null	Het
Fat2	G	C	11: 55,281,280	T2869S	possibly damaging	Het
Fgg	A	T	3: 83,012,976	Q354L	probably damaging	Het
Folh1	T	C	7: 86,723,309	D679G	probably damaging	Het
Gbp4	T	A	5: 105,123,109	R83*	probably null	Het
Gm17482	T	A	6: 115,227,350		probably benign	Het
Hmgxb4	T	A	8: 75,023,299	V481D	possibly damaging	Het
Ifi207	A	C	1: 173,725,053	Y926D	probably damaging	Het
Ikzf5	T	A	7: 131,391,648	N264Y	probably damaging	Het
Krt33b	A	T	11: 100,024,868	C351S	probably benign	Het
Lrp1	T	C	10: 127,592,075	D543G	probably damaging	Het
Lrrfip2	C	T	9: 111,223,953	R339W	probably damaging	Het
Mapk3	T	G	7: 126,764,282	M276R	probably benign	Het
Mgst1	T	C	6: 138,150,829	V137A	probably benign	Het
Muc16	T	C	9: 18,647,588	T2470A	unknown	Het
Muc4	C	T	16: 32,753,946	S1274F	possibly damaging	Het
Myo5c	A	C	9: 75,272,916	K713T	possibly damaging	Het
Myzap	T	C	9: 71,558,864	D170G	possibly damaging	Het
Naa50	T	C	16: 44,159,468	V113A	probably damaging	Het
Neu3	T	C	7: 99,813,722	T265A	probably benign	Het
Nin	T	C	12: 70,014,857	T2078A	possibly damaging	Het
Nomo1	G	A	7: 46,033,836		probably benign	Het
Nov	T	C	15: 54,748,025		probably null	Het
Nprl3	A	G	11: 32,239,828	L273P	probably damaging	Het
Oaf	T	A	9: 43,224,919	H120L	possibly damaging	Het
Olfr1053	T	C	2: 86,315,124	H54R	probably benign	Het
Olfr1342	C	T	4: 118,689,948	R168H	probably benign	Het
Olfr883	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 38,026,540		probably null	Het
Olfr982	T	C	9: 40,074,528	S78P	probably damaging	Het
Pcdhga3	T	A	18: 37,676,621		probably null	Het
Polq	G	A	16: 37,017,356		probably null	Het
Prdm8	C	T	5: 98,185,303	P243L	possibly damaging	Het
Prim2	T	C	1: 33,662,292	D138G	probably benign	Het
Prl2c5	A	G	13: 13,190,590	E107G	probably benign	Het
Prr14l	T	A	5: 32,827,525	H1542L	probably damaging	Het
Rab26	T	C	17: 24,530,098	E203G	probably damaging	Het
Rtkn2	A	T	10: 68,035,832	H350L	possibly damaging	Het
Scara3	T	C	14: 65,938,261	D19G	probably benign	Het
Scn3a	A	G	2: 65,472,341	S1254P	probably damaging	Het
Sdcbp	A	G	4: 6,385,059	M93V	probably benign	Het
Sema6a	C	A	18: 47,249,164	R772L	probably damaging	Het
Slc5a7	T	C	17: 54,276,978	K428R	probably benign	Het
Sptbn2	G	A	19: 4,724,646	G109D	probably damaging	Het
Tmppe	T	C	9: 114,404,744	L37P	probably benign	Het
Tuba1a	T	C	15: 98,951,529	T56A	probably benign	Het
Vmn2r111	A	G	17: 22,573,089	I62T	probably benign	Het
Vmn2r73	A	G	7: 85,857,620	I828T	probably damaging	Het
Vmn2r79	T	A	7: 87,037,768	W786R	probably damaging	Het
Zcchc11	T	A	4: 108,555,620	I1506N	probably damaging	Het
Zp1	G	A	19: 10,916,720	T405M	probably null	Het

Other mutations in Kat6a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00921:Kat6a	APN	8	22940263	missense	unknown
IGL01093:Kat6a	APN	8	22939321	missense	possibly damaging	0.85
IGL01364:Kat6a	APN	8	22907700	missense	probably damaging	1.00
IGL01868:Kat6a	APN	8	22926455	missense	probably damaging	1.00
IGL02477:Kat6a	APN	8	22929300	missense	probably damaging	1.00
IGL02792:Kat6a	APN	8	22938300	missense	probably damaging	0.98
IGL03243:Kat6a	APN	8	22910222	missense	possibly damaging	0.77
Anning	UTSW	8	22932113	critical splice acceptor site	probably null
lord	UTSW	8	22862364	missense	probably damaging	1.00
master	UTSW	8	22862788	missense	probably damaging	0.99
R0018:Kat6a	UTSW	8	22929273	missense	possibly damaging	0.74
R0018:Kat6a	UTSW	8	22929273	missense	possibly damaging	0.74
R0284:Kat6a	UTSW	8	22939803	missense	unknown
R0636:Kat6a	UTSW	8	22939323	missense	possibly damaging	0.73
R0883:Kat6a	UTSW	8	22862214	missense	probably damaging	1.00
R1457:Kat6a	UTSW	8	22938652	missense	probably benign
R1753:Kat6a	UTSW	8	22935797	missense	probably benign	0.09
R2059:Kat6a	UTSW	8	22939305	missense	possibly damaging	0.53
R2155:Kat6a	UTSW	8	22935647	small deletion	probably benign
R2764:Kat6a	UTSW	8	22932178	missense	probably damaging	1.00
R3724:Kat6a	UTSW	8	22862788	missense	probably damaging	0.99
R3824:Kat6a	UTSW	8	22862364	missense	probably damaging	1.00
R3825:Kat6a	UTSW	8	22862364	missense	probably damaging	1.00
R4370:Kat6a	UTSW	8	22911929	missense	possibly damaging	0.95
R4371:Kat6a	UTSW	8	22911929	missense	possibly damaging	0.95
R4457:Kat6a	UTSW	8	22932113	critical splice acceptor site	probably null
R4600:Kat6a	UTSW	8	22939311	missense	probably benign	0.18
R4792:Kat6a	UTSW	8	22940576	missense	unknown
R4896:Kat6a	UTSW	8	22938313	missense	probably benign	0.07
R5069:Kat6a	UTSW	8	22903133	missense	probably damaging	1.00
R5192:Kat6a	UTSW	8	22911713	missense	probably damaging	0.99
R5196:Kat6a	UTSW	8	22911713	missense	probably damaging	0.99
R5279:Kat6a	UTSW	8	22939648	small deletion	probably benign
R5331:Kat6a	UTSW	8	22939984	missense	unknown
R5480:Kat6a	UTSW	8	22938307	missense	possibly damaging	0.77
R5659:Kat6a	UTSW	8	22938160	nonsense	probably null
R5759:Kat6a	UTSW	8	22938012	missense	probably benign	0.04
R5787:Kat6a	UTSW	8	22932647	missense	probably damaging	0.99
R5892:Kat6a	UTSW	8	22938289	missense	probably damaging	1.00
R5923:Kat6a	UTSW	8	22939479	missense	probably benign	0.00
R6049:Kat6a	UTSW	8	22939037	missense	possibly damaging	0.53
R6223:Kat6a	UTSW	8	22940426	missense	unknown
R6276:Kat6a	UTSW	8	22939405	missense	possibly damaging	0.96
R6279:Kat6a	UTSW	8	22939612	missense	unknown
R6300:Kat6a	UTSW	8	22939612	missense	unknown
R6562:Kat6a	UTSW	8	22911787	missense	probably benign	0.04
R6807:Kat6a	UTSW	8	22940368	missense	unknown
R6852:Kat6a	UTSW	8	22938660	missense	probably benign	0.18
R6875:Kat6a	UTSW	8	22932361	missense	probably benign	0.02
R6895:Kat6a	UTSW	8	22935783	missense	possibly damaging	0.88
R6913:Kat6a	UTSW	8	22903199	missense	possibly damaging	0.53
R7047:Kat6a	UTSW	8	22938538	missense	possibly damaging	0.53
R7235:Kat6a	UTSW	8	22914269	missense	possibly damaging	0.94
R7243:Kat6a	UTSW	8	22938775	missense	probably benign	0.00
R7454:Kat6a	UTSW	8	22935772	missense	possibly damaging	0.56
R7618:Kat6a	UTSW	8	22862562	missense	possibly damaging	0.95
R7768:Kat6a	UTSW	8	22903212	missense	probably damaging	1.00
X0050:Kat6a	UTSW	8	22940481	nonsense	probably null
Z1088:Kat6a	UTSW	8	22935501	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ATCCGTTCCAAGTCTGCACC -3'
(R):5'- CAGCATTCATGTAGCTGTGATGG -3'

Sequencing Primer
(F):5'- GTTCCAAGTCTGCACCTTTAC -3'
(R):5'- CAGTGTACATCATGTTCCCGTGAG -3'

Posted On

2018-04-02