Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02477:Kat6a'

295007

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kat6a

Ensembl Gene

ENSMUSG00000031540

Gene Name

K(lysine) acetyltransferase 6A

Synonyms

Zfp220, MOZ, 9930021N24Rik, Myst3

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02477

Quality Score

Status

Chromosome

Chromosomal Location

22859535-22943259 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 22929300 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 693 (Y693C)

Ref Sequence

ENSEMBL: ENSMUSP00000106324 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000044331
AA Change: Y693C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000038181
Gene: ENSMUSG00000031540
AA Change: Y693C

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

probably damaging
Transcript: ENSMUST00000110696
AA Change: Y693C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106324
Gene: ENSMUSG00000031540
AA Change: Y693C

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

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	T	A	4: 103,270,746	I61F	probably benign	Het
Abr	T	C	11: 76,461,360	K280E	probably damaging	Het
Acaca	T	C	11: 84,307,168		probably benign	Het
Cep131	C	T	11: 120,070,580	V582I	probably damaging	Het
Colec12	A	G	18: 9,859,858	N613D	unknown	Het
Cyp4f39	A	G	17: 32,489,645	T389A	probably benign	Het
D630003M21Rik	T	C	2: 158,217,488	N164S	probably benign	Het
Eef1akmt2	A	T	7: 132,850,589		probably null	Het
Elp3	T	C	14: 65,563,311	T283A	probably benign	Het
Fads3	C	A	19: 10,056,442	P397Q	probably damaging	Het
Fam171a1	T	C	2: 3,202,575	V198A	possibly damaging	Het
Fam171a2	T	C	11: 102,440,028	I208M	probably benign	Het
Fbxw17	G	A	13: 50,423,817	V119M	possibly damaging	Het
Gtf2ird1	G	A	5: 134,379,978	T140M	probably damaging	Het
Hspa14	C	T	2: 3,496,624	S277N	probably damaging	Het
Hspg2	C	T	4: 137,544,512		probably benign	Het
Ing2	G	T	8: 47,669,268	R82S	possibly damaging	Het
Kcna7	A	G	7: 45,409,623	M445V	probably benign	Het
Lifr	T	G	15: 7,186,923	I793S	probably damaging	Het
Lrrd1	T	A	5: 3,865,770	M789K	probably benign	Het
Myom3	T	A	4: 135,779,368	L484Q	probably benign	Het
Nav2	T	A	7: 49,582,875	M1860K	probably damaging	Het
Nipbl	C	T	15: 8,323,647		probably null	Het
Nsun7	T	A	5: 66,276,649	I214K	probably damaging	Het
Olfr181	T	C	16: 58,925,763	I269M	probably benign	Het
Olfr898	C	T	9: 38,349,125	S8L	probably benign	Het
Osm	T	A	11: 4,239,604	N129K	probably damaging	Het
Plce1	C	T	19: 38,719,553		probably benign	Het
Plch1	A	G	3: 63,753,293	F302L	probably damaging	Het
Pld2	T	C	11: 70,540,925	V27A	possibly damaging	Het
Prex2	A	G	1: 11,204,154	D1350G	probably benign	Het
Psme4	T	A	11: 30,842,083	V1190D	probably damaging	Het
Sema3g	G	T	14: 31,227,866	R668L	probably damaging	Het
Sprr2f	T	A	3: 92,365,897	M1K	probably null	Het
Sult6b2	G	A	6: 142,801,721	P101S	probably damaging	Het
Trem3	G	A	17: 48,249,836	V112I	probably benign	Het
Ttll9	T	A	2: 153,000,197	F324I	possibly damaging	Het
Ttn	T	A	2: 76,726,760	D29967V	probably damaging	Het
Ubr4	A	G	4: 139,436,205	K2639E	probably damaging	Het
Vwce	T	C	19: 10,664,618		probably null	Het
Zbtb14	T	A	17: 69,387,695	D129E	probably benign	Het
Zmym6	C	T	4: 127,078,502	Q16*	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
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
Jackal	UTSW	8	22930174	missense	probably damaging	0.99
lobo	UTSW	8	22910249	missense	probably damaging	0.99
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
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
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
R8725:Kat6a	UTSW	8	22908277	missense	probably damaging	1.00
R8743:Kat6a	UTSW	8	22939006	missense	possibly damaging	0.85
R8904:Kat6a	UTSW	8	22938808	missense	possibly damaging	0.85
R9014:Kat6a	UTSW	8	22940071	missense	unknown
R9019:Kat6a	UTSW	8	22935738	missense	probably damaging	0.98
R9091:Kat6a	UTSW	8	22930174	missense	probably damaging	0.99
R9142:Kat6a	UTSW	8	22940056	missense	unknown
R9229:Kat6a	UTSW	8	22939971	missense	unknown
R9270:Kat6a	UTSW	8	22930174	missense	probably damaging	0.99
R9367:Kat6a	UTSW	8	22910140	missense	possibly damaging	0.76
R9421:Kat6a	UTSW	8	22908306	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
Z1190:Kat6a	UTSW	8	22940229	missense	unknown

Posted On

2015-04-16