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, Myst3, MOZ, 9930021N24Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02477

Quality Score

Status

Chromosome

Chromosomal Location

23349551-23433275 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 23419316 bp (GRCm39)

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: 103,127,943 (GRCm39)	I61F	probably benign	Het
Abr	T	C	11: 76,352,186 (GRCm39)	K280E	probably damaging	Het
Acaca	T	C	11: 84,197,994 (GRCm39)		probably benign	Het
Cep131	C	T	11: 119,961,406 (GRCm39)	V582I	probably damaging	Het
Colec12	A	G	18: 9,859,858 (GRCm39)	N613D	unknown	Het
Cyp4f39	A	G	17: 32,708,619 (GRCm39)	T389A	probably benign	Het
D630003M21Rik	T	C	2: 158,059,408 (GRCm39)	N164S	probably benign	Het
Eef1akmt2	A	T	7: 132,452,318 (GRCm39)		probably null	Het
Elp3	T	C	14: 65,800,760 (GRCm39)	T283A	probably benign	Het
Fads3	C	A	19: 10,033,806 (GRCm39)	P397Q	probably damaging	Het
Fam171a1	T	C	2: 3,203,612 (GRCm39)	V198A	possibly damaging	Het
Fam171a2	T	C	11: 102,330,854 (GRCm39)	I208M	probably benign	Het
Fbxw17	G	A	13: 50,577,853 (GRCm39)	V119M	possibly damaging	Het
Gtf2ird1	G	A	5: 134,408,832 (GRCm39)	T140M	probably damaging	Het
Hspa14	C	T	2: 3,497,661 (GRCm39)	S277N	probably damaging	Het
Hspg2	C	T	4: 137,271,823 (GRCm39)		probably benign	Het
Ing2	G	T	8: 48,122,303 (GRCm39)	R82S	possibly damaging	Het
Kcna7	A	G	7: 45,059,047 (GRCm39)	M445V	probably benign	Het
Lifr	T	G	15: 7,216,404 (GRCm39)	I793S	probably damaging	Het
Lrrd1	T	A	5: 3,915,770 (GRCm39)	M789K	probably benign	Het
Myom3	T	A	4: 135,506,679 (GRCm39)	L484Q	probably benign	Het
Nav2	T	A	7: 49,232,623 (GRCm39)	M1860K	probably damaging	Het
Nipbl	C	T	15: 8,353,131 (GRCm39)		probably null	Het
Nsun7	T	A	5: 66,433,992 (GRCm39)	I214K	probably damaging	Het
Or5k17	T	C	16: 58,746,126 (GRCm39)	I269M	probably benign	Het
Or8c20	C	T	9: 38,260,421 (GRCm39)	S8L	probably benign	Het
Osm	T	A	11: 4,189,604 (GRCm39)	N129K	probably damaging	Het
Plce1	C	T	19: 38,707,997 (GRCm39)		probably benign	Het
Plch1	A	G	3: 63,660,714 (GRCm39)	F302L	probably damaging	Het
Pld2	T	C	11: 70,431,751 (GRCm39)	V27A	possibly damaging	Het
Prex2	A	G	1: 11,274,378 (GRCm39)	D1350G	probably benign	Het
Psme4	T	A	11: 30,792,083 (GRCm39)	V1190D	probably damaging	Het
Sema3g	G	T	14: 30,949,823 (GRCm39)	R668L	probably damaging	Het
Sprr2f	T	A	3: 92,273,204 (GRCm39)	M1K	probably null	Het
Sult6b2	G	A	6: 142,747,447 (GRCm39)	P101S	probably damaging	Het
Trem3	G	A	17: 48,556,864 (GRCm39)	V112I	probably benign	Het
Ttll9	T	A	2: 152,842,117 (GRCm39)	F324I	possibly damaging	Het
Ttn	T	A	2: 76,557,104 (GRCm39)	D29967V	probably damaging	Het
Ubr4	A	G	4: 139,163,516 (GRCm39)	K2639E	probably damaging	Het
Vwce	T	C	19: 10,641,982 (GRCm39)		probably null	Het
Zbtb14	T	A	17: 69,694,690 (GRCm39)	D129E	probably benign	Het
Zmym6	C	T	4: 126,972,295 (GRCm39)	Q16*	probably null	Het

Other mutations in Kat6a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00921:Kat6a	APN	8	23,430,279 (GRCm39)	missense	unknown
IGL01093:Kat6a	APN	8	23,429,337 (GRCm39)	missense	possibly damaging	0.85
IGL01364:Kat6a	APN	8	23,397,716 (GRCm39)	missense	probably damaging	1.00
IGL01868:Kat6a	APN	8	23,416,471 (GRCm39)	missense	probably damaging	1.00
IGL02792:Kat6a	APN	8	23,428,316 (GRCm39)	missense	probably damaging	0.98
IGL03243:Kat6a	APN	8	23,400,238 (GRCm39)	missense	possibly damaging	0.77
Anning	UTSW	8	23,422,129 (GRCm39)	critical splice acceptor site	probably null
Jackal	UTSW	8	23,420,190 (GRCm39)	missense	probably damaging	0.99
lobo	UTSW	8	23,400,265 (GRCm39)	missense	probably damaging	0.99
lord	UTSW	8	23,352,380 (GRCm39)	missense	probably damaging	1.00
master	UTSW	8	23,352,804 (GRCm39)	missense	probably damaging	0.99
R0018:Kat6a	UTSW	8	23,419,289 (GRCm39)	missense	possibly damaging	0.74
R0018:Kat6a	UTSW	8	23,419,289 (GRCm39)	missense	possibly damaging	0.74
R0284:Kat6a	UTSW	8	23,429,819 (GRCm39)	missense	unknown
R0636:Kat6a	UTSW	8	23,429,339 (GRCm39)	missense	possibly damaging	0.73
R0883:Kat6a	UTSW	8	23,352,230 (GRCm39)	missense	probably damaging	1.00
R1457:Kat6a	UTSW	8	23,428,668 (GRCm39)	missense	probably benign
R1753:Kat6a	UTSW	8	23,425,813 (GRCm39)	missense	probably benign	0.09
R2059:Kat6a	UTSW	8	23,429,321 (GRCm39)	missense	possibly damaging	0.53
R2155:Kat6a	UTSW	8	23,425,663 (GRCm39)	small deletion	probably benign
R2764:Kat6a	UTSW	8	23,422,194 (GRCm39)	missense	probably damaging	1.00
R3724:Kat6a	UTSW	8	23,352,804 (GRCm39)	missense	probably damaging	0.99
R3824:Kat6a	UTSW	8	23,352,380 (GRCm39)	missense	probably damaging	1.00
R3825:Kat6a	UTSW	8	23,352,380 (GRCm39)	missense	probably damaging	1.00
R4370:Kat6a	UTSW	8	23,401,945 (GRCm39)	missense	possibly damaging	0.95
R4371:Kat6a	UTSW	8	23,401,945 (GRCm39)	missense	possibly damaging	0.95
R4457:Kat6a	UTSW	8	23,422,129 (GRCm39)	critical splice acceptor site	probably null
R4600:Kat6a	UTSW	8	23,429,327 (GRCm39)	missense	probably benign	0.18
R4792:Kat6a	UTSW	8	23,430,592 (GRCm39)	missense	unknown
R4896:Kat6a	UTSW	8	23,428,329 (GRCm39)	missense	probably benign	0.07
R5069:Kat6a	UTSW	8	23,393,149 (GRCm39)	missense	probably damaging	1.00
R5192:Kat6a	UTSW	8	23,401,729 (GRCm39)	missense	probably damaging	0.99
R5196:Kat6a	UTSW	8	23,401,729 (GRCm39)	missense	probably damaging	0.99
R5279:Kat6a	UTSW	8	23,429,664 (GRCm39)	small deletion	probably benign
R5331:Kat6a	UTSW	8	23,430,000 (GRCm39)	missense	unknown
R5480:Kat6a	UTSW	8	23,428,323 (GRCm39)	missense	possibly damaging	0.77
R5659:Kat6a	UTSW	8	23,428,176 (GRCm39)	nonsense	probably null
R5759:Kat6a	UTSW	8	23,428,028 (GRCm39)	missense	probably benign	0.04
R5787:Kat6a	UTSW	8	23,422,663 (GRCm39)	missense	probably damaging	0.99
R5892:Kat6a	UTSW	8	23,428,305 (GRCm39)	missense	probably damaging	1.00
R5923:Kat6a	UTSW	8	23,429,495 (GRCm39)	missense	probably benign	0.00
R6049:Kat6a	UTSW	8	23,429,053 (GRCm39)	missense	possibly damaging	0.53
R6223:Kat6a	UTSW	8	23,430,442 (GRCm39)	missense	unknown
R6276:Kat6a	UTSW	8	23,429,421 (GRCm39)	missense	possibly damaging	0.96
R6279:Kat6a	UTSW	8	23,429,628 (GRCm39)	missense	unknown
R6300:Kat6a	UTSW	8	23,429,628 (GRCm39)	missense	unknown
R6307:Kat6a	UTSW	8	23,430,384 (GRCm39)	missense	unknown
R6562:Kat6a	UTSW	8	23,401,803 (GRCm39)	missense	probably benign	0.04
R6807:Kat6a	UTSW	8	23,430,384 (GRCm39)	missense	unknown
R6852:Kat6a	UTSW	8	23,428,676 (GRCm39)	missense	probably benign	0.18
R6875:Kat6a	UTSW	8	23,422,377 (GRCm39)	missense	probably benign	0.02
R6895:Kat6a	UTSW	8	23,425,799 (GRCm39)	missense	possibly damaging	0.88
R6913:Kat6a	UTSW	8	23,393,215 (GRCm39)	missense	possibly damaging	0.53
R7047:Kat6a	UTSW	8	23,428,554 (GRCm39)	missense	possibly damaging	0.53
R7235:Kat6a	UTSW	8	23,404,285 (GRCm39)	missense	possibly damaging	0.94
R7243:Kat6a	UTSW	8	23,428,791 (GRCm39)	missense	probably benign	0.00
R7454:Kat6a	UTSW	8	23,425,788 (GRCm39)	missense	possibly damaging	0.56
R7618:Kat6a	UTSW	8	23,352,578 (GRCm39)	missense	possibly damaging	0.95
R7768:Kat6a	UTSW	8	23,393,228 (GRCm39)	missense	probably damaging	1.00
R7980:Kat6a	UTSW	8	23,416,432 (GRCm39)	missense	possibly damaging	0.95
R8051:Kat6a	UTSW	8	23,400,265 (GRCm39)	missense	probably damaging	0.99
R8408:Kat6a	UTSW	8	23,352,275 (GRCm39)	missense	probably damaging	1.00
R8725:Kat6a	UTSW	8	23,398,293 (GRCm39)	missense	probably damaging	1.00
R8743:Kat6a	UTSW	8	23,429,022 (GRCm39)	missense	possibly damaging	0.85
R8904:Kat6a	UTSW	8	23,428,824 (GRCm39)	missense	possibly damaging	0.85
R9014:Kat6a	UTSW	8	23,430,087 (GRCm39)	missense	unknown
R9019:Kat6a	UTSW	8	23,425,754 (GRCm39)	missense	probably damaging	0.98
R9091:Kat6a	UTSW	8	23,420,190 (GRCm39)	missense	probably damaging	0.99
R9142:Kat6a	UTSW	8	23,430,072 (GRCm39)	missense	unknown
R9229:Kat6a	UTSW	8	23,429,987 (GRCm39)	missense	unknown
R9270:Kat6a	UTSW	8	23,420,190 (GRCm39)	missense	probably damaging	0.99
R9367:Kat6a	UTSW	8	23,400,156 (GRCm39)	missense	possibly damaging	0.76
R9421:Kat6a	UTSW	8	23,398,322 (GRCm39)	missense	probably damaging	1.00
X0050:Kat6a	UTSW	8	23,430,497 (GRCm39)	nonsense	probably null
Z1088:Kat6a	UTSW	8	23,425,517 (GRCm39)	nonsense	probably null
Z1176:Kat6a	UTSW	8	23,400,170 (GRCm39)	missense	probably damaging	1.00
Z1177:Kat6a	UTSW	8	23,430,182 (GRCm39)	missense	unknown
Z1190:Kat6a	UTSW	8	23,430,245 (GRCm39)	missense	unknown

Posted On

2015-04-16