Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03243:Kat6a'

414302

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 #

IGL03243

Quality Score

Status

Chromosome

Chromosomal Location

23349551-23433275 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 23400238 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 333 (N333S)

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: N333S

PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000038181
Gene: ENSMUSG00000031540
AA Change: N333S

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: N333S

PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000106324
Gene: ENSMUSG00000031540
AA Change: N333S

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

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26a	T	C	8: 44,021,733 (GRCm39)	T586A	probably benign	Het
Agtr1b	T	C	3: 20,369,959 (GRCm39)	T216A	probably benign	Het
Ankdd1a	T	C	9: 65,408,752 (GRCm39)	R505G	probably benign	Het
Anxa3	A	T	5: 96,976,551 (GRCm39)		probably benign	Het
Atp6v1c2	C	T	12: 17,339,122 (GRCm39)	V210I	probably benign	Het
BC034090	G	A	1: 155,101,401 (GRCm39)	P288S	possibly damaging	Het
Catsper2	T	C	2: 121,237,300 (GRCm39)	H200R	probably benign	Het
Ceacam23	A	T	7: 17,652,574 (GRCm39)		noncoding transcript	Het
Cntnap5c	G	T	17: 58,409,171 (GRCm39)	A470S	probably benign	Het
Fcho2	G	A	13: 98,913,892 (GRCm39)		probably benign	Het
Frem1	A	C	4: 82,932,206 (GRCm39)	L165R	probably damaging	Het
Gpn1	G	A	5: 31,668,175 (GRCm39)		probably null	Het
Gpr179	T	C	11: 97,242,301 (GRCm39)	N181S	probably benign	Het
Heatr5b	A	T	17: 79,070,509 (GRCm39)		probably benign	Het
Lrp5	T	C	19: 3,680,159 (GRCm39)	T442A	probably benign	Het
Myo15a	G	T	11: 60,387,344 (GRCm39)	L722F	probably damaging	Het
Nlrp9c	T	G	7: 26,064,457 (GRCm39)	D957A	probably damaging	Het
Nup58	T	A	14: 60,459,065 (GRCm39)	T521S	probably benign	Het
Or7e165	T	G	9: 19,694,564 (GRCm39)	I45S	probably damaging	Het
Plek	C	A	11: 16,945,319 (GRCm39)	V4L	possibly damaging	Het
Sell	T	A	1: 163,892,911 (GRCm39)	H42Q	possibly damaging	Het
Slfn8	A	T	11: 82,894,533 (GRCm39)	I702K	probably damaging	Het
Svep1	T	C	4: 58,133,387 (GRCm39)	I573V	probably benign	Het
Tgm1	T	A	14: 55,943,364 (GRCm39)	I526F	probably damaging	Het
Tmem30c	A	T	16: 57,096,513 (GRCm39)	S203T	probably benign	Het
Tox	T	C	4: 6,697,597 (GRCm39)	N402S	possibly damaging	Het
Trav7d-4	C	A	14: 53,007,555 (GRCm39)		probably benign	Het
Unc13d	A	T	11: 115,958,670 (GRCm39)	V784D	probably benign	Het
Vmn2r68	A	G	7: 84,882,963 (GRCm39)	V263A	possibly damaging	Het
Zfp385c	A	T	11: 100,525,573 (GRCm39)	V56D	probably damaging	Het
Znrf2	A	T	6: 54,861,754 (GRCm39)	I222L	possibly damaging	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
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

2016-08-02