Mutagenetix > Incidental Mutation

Incidental Mutation 'R4371:Kat6a'

326000

Institutional Source

Beutler Lab

Gene Symbol

Kat6a

Ensembl Gene

ENSMUSG00000031540

Gene Name

K(lysine) acetyltransferase 6A

Synonyms

Zfp220, Myst3, MOZ, 9930021N24Rik

MMRRC Submission

041117-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4371 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23349551-23433275 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 23401945 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 438 (I438T)

Ref Sequence

ENSEMBL: ENSMUSP00000106324 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044331
AA Change: I438T

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000038181
Gene: ENSMUSG00000031540
AA Change: I438T

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: I438T

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000106324
Gene: ENSMUSG00000031540
AA Change: I438T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130718

Meta Mutation Damage Score

0.0712

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

100% (41/41)

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alg11	C	A	8: 22,558,095 (GRCm39)	A469E	probably benign	Het
Alox12b	G	A	11: 69,060,442 (GRCm39)	R666H	possibly damaging	Het
Atp9a	T	C	2: 168,491,535 (GRCm39)	T677A	probably damaging	Het
B4galt3	C	A	1: 171,101,613 (GRCm39)	H196N	probably damaging	Het
Bckdk	C	T	7: 127,505,591 (GRCm39)	A238V	probably benign	Het
Brpf3	C	T	17: 29,055,594 (GRCm39)	A1181V	probably damaging	Het
C9	A	G	15: 6,520,965 (GRCm39)	D470G	probably damaging	Het
Camsap2	A	G	1: 136,215,701 (GRCm39)	F337L	probably damaging	Het
Cep152	G	A	2: 125,454,967 (GRCm39)	R278W	probably damaging	Het
Cfb	T	C	17: 35,079,290 (GRCm39)	K287R	probably damaging	Het
Chfr	G	A	5: 110,284,034 (GRCm39)	R36H	probably damaging	Het
Cyp4f14	T	C	17: 33,128,232 (GRCm39)	N261S	probably benign	Het
Drp2	A	T	X: 133,335,884 (GRCm39)		probably benign	Het
Dzip3	A	G	16: 48,763,818 (GRCm39)		probably null	Het
Emb	A	T	13: 117,405,466 (GRCm39)	D296V	probably damaging	Het
Epha1	T	C	6: 42,342,391 (GRCm39)	Y319C	probably damaging	Het
Flcn	C	T	11: 59,694,610 (GRCm39)	V121I	possibly damaging	Het
Glrp1	GTGCTGCTGCTGCTGCTGCTGCTGCTG	GTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	1: 88,430,997 (GRCm39)		probably benign	Het
Gm6177	A	T	1: 160,720,741 (GRCm39)		noncoding transcript	Het
Hepacam2	A	T	6: 3,486,988 (GRCm39)	V123E	probably damaging	Het
Iqsec1	A	G	6: 90,671,588 (GRCm39)	S194P	probably damaging	Het
Kcnmb2	A	G	3: 32,210,251 (GRCm39)		probably null	Het
Nbeal1	A	T	1: 60,329,105 (GRCm39)	K2174N	possibly damaging	Het
Ncapg	G	A	5: 45,835,797 (GRCm39)	M409I	probably benign	Het
Ocstamp	A	G	2: 165,239,233 (GRCm39)	S318P	possibly damaging	Het
Or5p79	C	T	7: 108,221,096 (GRCm39)	L26F	probably benign	Het
Phactr2	A	G	10: 13,129,564 (GRCm39)	S235P	probably damaging	Het
Pom121l2	T	C	13: 22,166,409 (GRCm39)	S227P	probably benign	Het
Sdf2	C	T	11: 78,141,863 (GRCm39)	T66I	probably damaging	Het
Sptbn5	A	G	2: 119,896,475 (GRCm39)	C729R	probably damaging	Het
Sys1	T	C	2: 164,303,315 (GRCm39)	W10R	probably damaging	Het
Tfap4	A	G	16: 4,369,863 (GRCm39)	I4T	probably damaging	Het
Thrb	C	A	14: 18,030,275 (GRCm38)	Q340K	probably damaging	Het
Tnc	T	C	4: 63,888,588 (GRCm39)	Y1735C	probably damaging	Het
Ubr1	A	T	2: 120,725,547 (GRCm39)		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
IGL02477:Kat6a	APN	8	23,419,316 (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
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

Predicted Primers

PCR Primer
(F):5'- AGCCAGTCTGCATCATCATC -3'
(R):5'- AGCTCTAATTCCTGACACAGC -3'

Sequencing Primer
(F):5'- GTCTGCATCATCATCAGAAGAAGGC -3'
(R):5'- CAGACTCTAGTGCTATGATTTCAGG -3'

Posted On

2015-07-06