Mutagenetix > Incidental Mutations

Incidental Mutation 'R7454:Kat6a'

577998

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 #

R7454 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

22859535-22943259 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 22935772 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1111 (E1111G)

Ref Sequence

ENSEMBL: ENSMUSP00000038181 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044331
AA Change: E1111G

PolyPhen 2 Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000038181
Gene: ENSMUSG00000031540
AA Change: E1111G

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

possibly damaging
Transcript: ENSMUST00000110696
AA Change: E1111G

PolyPhen 2 Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000106324
Gene: ENSMUSG00000031540
AA Change: E1111G

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (90/90)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510002D24Rik	A	G	16: 18,836,851	E57G	possibly damaging	Het
4932414N04Rik	C	A	2: 68,688,304	T159K	unknown	Het
Adamts10	T	A	17: 33,545,005	F616L	possibly damaging	Het
Adtrp	G	A	13: 41,828,315	S26L	unknown	Het
Alpk3	A	C	7: 81,078,562	E480A	probably benign	Het
Anks6	T	C	4: 47,038,919	T529A	unknown	Het
Arl4d	A	G	11: 101,666,660	H4R	probably benign	Het
Ash1l	A	G	3: 88,983,865	H1017R	probably benign	Het
Bbs12	T	C	3: 37,320,953	S517P	possibly damaging	Het
Bcl11b	C	A	12: 107,916,208	R616L	possibly damaging	Het
Bean1	G	A	8: 104,211,026	G79D	probably damaging	Het
Bicra	C	G	7: 15,972,134	G1461R	probably benign	Het
Bptf	T	C	11: 107,044,640	T124A	probably benign	Het
Btnl4	A	T	17: 34,472,374	V312E	probably benign	Het
Ccdc7a	A	G	8: 128,944,516	M503T	unknown	Het
Celf5	T	C	10: 81,482,523	E28G	probably damaging	Het
Cilp2	G	A	8: 69,883,390	L350F	probably damaging	Het
Clec4a2	T	C	6: 123,142,452	I245T	probably damaging	Het
Ctnnal1	A	T	4: 56,844,544	V140D	probably damaging	Het
Dennd4a	A	C	9: 64,852,570	H319P	probably damaging	Het
Dlgap3	G	T	4: 127,235,059	L857F	probably null	Het
Dnah6	T	A	6: 73,212,492	T58S	probably damaging	Het
Dnah7a	T	A	1: 53,518,764	M2164L	probably benign	Het
Dspp	T	A	5: 104,175,610	H206Q	probably benign	Het
Dzip1l	G	A	9: 99,659,674	V443M	possibly damaging	Het
Erc2	A	G	14: 28,302,991	H939R	possibly damaging	Het
Fam149a	G	T	8: 45,348,546	H513N	probably benign	Het
Fam171a2	T	C	11: 102,439,717	T280A	possibly damaging	Het
Fam208b	A	G	13: 3,585,332	S492P	probably benign	Het
Fkbp5	A	C	17: 28,416,025	V170G	probably damaging	Het
Fnbp4	ACCACCTCCACCTCCACCTCC	ACCACCTCCACCTCCACCTCCACCTCC	2: 90,777,815		probably benign	Het
Fzd2	T	C	11: 102,605,129	F133S	probably damaging	Het
Galm	A	G	17: 80,138,121	N100S	possibly damaging	Het
Gbp2b	T	A	3: 142,598,159	I5N	possibly damaging	Het
Gga2	T	C	7: 122,002,146	R245G	probably benign	Het
Gm10053	A	G	19: 24,875,900	T50A	probably benign	Het
Gm1110	T	C	9: 26,920,649	T69A	probably benign	Het
Gm15922	T	G	7: 3,735,510	E622D	probably benign	Het
Heatr5a	T	C	12: 51,961,543	S6G	probably benign	Het
Hmcn1	A	G	1: 150,563,604	S5610P	probably damaging	Het
Hmgb4	A	G	4: 128,260,406	V123A	probably damaging	Het
Itgal	C	A	7: 127,327,764	Q943K	probably benign	Het
Jakmip1	C	A	5: 37,175,154	D1059E	probably damaging	Het
Jazf1	T	C	6: 52,893,944		probably null	Het
Kdm4b	C	A	17: 56,389,639	P452T	probably benign	Het
Krit1	T	C	5: 3,812,474	Y210H	probably damaging	Het
Krtap6-2	A	T	16: 89,419,912	Y56N	unknown	Het
Lig1	A	T	7: 13,288,721	D158V	probably damaging	Het
Lmo1	A	T	7: 109,140,666	L94Q	probably benign	Het
Lrrc30	A	T	17: 67,632,243	L114H	probably damaging	Het
Ltn1	T	C	16: 87,397,812	I1400V	probably benign	Het
Mark3	T	C	12: 111,604,527	I87T	probably damaging	Het
Mfrp	G	T	9: 44,105,183	V392F	possibly damaging	Het
Mrgprg	A	G	7: 143,765,135	L80P	probably damaging	Het
Ndufaf3	A	T	9: 108,566,926	M1K	probably null	Het
Nme7	T	A	1: 164,380,648	L295*	probably null	Het
Noct	G	T	3: 51,249,730	C163F	probably damaging	Het
Olfr1270	T	A	2: 90,149,419	I196F	possibly damaging	Het
Olfr229	A	G	9: 39,909,904	I34V	probably benign	Het
Olfr541	A	T	7: 140,704,634	I128F	probably damaging	Het
Olfr747	T	A	14: 50,680,824	Q270L	possibly damaging	Het
Olfr772	T	A	10: 129,174,455	T189S	probably damaging	Het
Olfr992	T	A	2: 85,399,611	K307N	probably damaging	Het
Patz1	C	T	11: 3,298,297		probably benign	Het
Per3	A	G	4: 151,012,728	L780P	probably benign	Het
Pla2g4a	T	C	1: 149,872,690	M256V	possibly damaging	Het
Pnliprp1	A	G	19: 58,741,100	K395R	probably benign	Het
Poc5	G	T	13: 96,400,832	G242V	possibly damaging	Het
Ppfia4	A	G	1: 134,324,135	S434P	possibly damaging	Het
Prss42	A	G	9: 110,798,829	N110S	probably benign	Het
Ralgapb	T	A	2: 158,432,902	I241N	possibly damaging	Het
Rbak	A	C	5: 143,173,773	Y508*	probably null	Het
S1pr2	G	T	9: 20,967,549	R328S	possibly damaging	Het
Sap130	T	C	18: 31,650,512	M214T	probably benign	Het
Slc46a1	T	A	11: 78,466,511	V130E	probably damaging	Het
Smc4	A	T	3: 69,018,124	H343L	probably benign	Het
Tarbp1	C	A	8: 126,457,677	R500L	probably benign	Het
Tgfbr3	A	T	5: 107,215,028	H39Q	probably damaging	Het
Tpp2	T	C	1: 43,954,659	S235P	probably benign	Het
Trbc2	G	T	6: 41,546,829	R33M		Het
Trim3	C	T	7: 105,619,558	R63Q	probably damaging	Het
Ttc28	T	C	5: 111,285,484	V2128A	probably benign	Het
Ttn	C	T	2: 76,725,818	R30281H	probably damaging	Het
Ttn	T	A	2: 76,944,139	Q2187L	unknown	Het
Ttyh3	T	C	5: 140,629,425	S403G	possibly damaging	Het
Vmn2r112	A	T	17: 22,603,307	D322V	probably benign	Het
Wdr38	C	T	2: 38,998,340		probably benign	Het
Xrn1	T	A	9: 96,048,358	S1543R	probably benign	Het
Zbtb8b	G	A	4: 129,432,769	T201I	possibly damaging	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
R6307:Kat6a	UTSW	8	22940368	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
R7618:Kat6a	UTSW	8	22862562	missense	possibly damaging	0.95
R7768:Kat6a	UTSW	8	22903212	missense	probably damaging	1.00
R7980:Kat6a	UTSW	8	22926416	missense	possibly damaging	0.95
R8051:Kat6a	UTSW	8	22910249	missense	probably damaging	0.99
R8408:Kat6a	UTSW	8	22862259	missense	probably damaging	1.00
X0050:Kat6a	UTSW	8	22940481	nonsense	probably null
Z1088:Kat6a	UTSW	8	22935501	nonsense	probably null
Z1176:Kat6a	UTSW	8	22910154	missense	probably damaging	1.00
Z1177:Kat6a	UTSW	8	22940166	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GACTCTGAGAGACCAATGCCAC -3'
(R):5'- TAAAGAAGCGCGTTTACATGC -3'

Sequencing Primer
(F):5'- ACGACTGGAGCCTACATTTG -3'
(R):5'- CGTTTACATGCAGACGTGAC -3'

Posted On

2019-10-07