Mutagenetix > Incidental Mutation

Incidental Mutation 'R1753:Kat6a'

193744

Institutional Source

Beutler Lab

Gene Symbol

Kat6a

Ensembl Gene

ENSMUSG00000031540

Gene Name

K(lysine) acetyltransferase 6A

Synonyms

Zfp220, Myst3, MOZ, 9930021N24Rik

MMRRC Submission

039785-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1753 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

23349551-23433275 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 23425813 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1119 (D1119E)

Ref Sequence

ENSEMBL: ENSMUSP00000106324 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000044331
AA Change: D1119E

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000038181
Gene: ENSMUSG00000031540
AA Change: D1119E

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 benign
Transcript: ENSMUST00000110696
AA Change: D1119E

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000106324
Gene: ENSMUSG00000031540
AA Change: D1119E

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: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.6%

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	T	11: 109,864,542 (GRCm39)	F409I	probably benign	Het
Adamts19	A	C	18: 59,140,444 (GRCm39)	I848L	possibly damaging	Het
Adamts5	T	C	16: 85,696,240 (GRCm39)	S306G	probably damaging	Het
Adamts8	T	G	9: 30,865,910 (GRCm39)	I486S	probably benign	Het
Adgrg5	T	C	8: 95,668,680 (GRCm39)	F499L	possibly damaging	Het
Akr1c21	T	A	13: 4,627,134 (GRCm39)	C145*	probably null	Het
Anp32b	T	G	4: 46,460,241 (GRCm39)		probably null	Het
Arhgap31	A	G	16: 38,421,974 (GRCm39)	V1364A	possibly damaging	Het
C2cd6	T	C	1: 59,133,992 (GRCm39)	R10G	possibly damaging	Het
Cacna2d1	A	G	5: 16,507,352 (GRCm39)	E367G	possibly damaging	Het
Ccdc81	C	T	7: 89,515,769 (GRCm39)	E637K	probably benign	Het
Cd2	A	T	3: 101,194,815 (GRCm39)	M91K	possibly damaging	Het
Cdc16	C	A	8: 13,814,688 (GRCm39)	Y157*	probably null	Het
Celsr3	G	T	9: 108,709,056 (GRCm39)	V1301F	probably damaging	Het
Cep164	C	T	9: 45,704,235 (GRCm39)	G961S	probably damaging	Het
Cep290	T	C	10: 100,349,843 (GRCm39)	V630A	probably benign	Het
Chd5	C	T	4: 152,463,272 (GRCm39)	S1451F	probably damaging	Het
Cldn23	A	C	8: 36,293,140 (GRCm39)	L116R	possibly damaging	Het
Cngb1	A	T	8: 96,024,401 (GRCm39)		probably benign	Het
Cpb1	G	T	3: 20,320,405 (GRCm39)	N151K	possibly damaging	Het
Cpn2	A	G	16: 30,078,918 (GRCm39)	F261S	probably damaging	Het
Crlf3	A	C	11: 79,948,698 (GRCm39)	V249G	probably damaging	Het
Csmd1	A	T	8: 16,207,134 (GRCm39)	Y1298*	probably null	Het
Cstf2t	C	A	19: 31,061,085 (GRCm39)	P207Q	possibly damaging	Het
Cym	A	C	3: 107,120,741 (GRCm39)	L288R	possibly damaging	Het
Cyp2j12	C	T	4: 96,009,669 (GRCm39)		probably null	Het
Dlx6	C	T	6: 6,863,665 (GRCm39)	Q96*	probably null	Het
Dnah7b	T	C	1: 46,361,495 (GRCm39)	F3465S	probably damaging	Het
Dnmt3a	A	T	12: 3,923,342 (GRCm39)	M181L	possibly damaging	Het
Duox1	T	A	2: 122,163,910 (GRCm39)	M859K	probably damaging	Het
Eif2b4	A	T	5: 31,350,284 (GRCm39)	S13T	probably benign	Het
Ercc6	T	C	14: 32,298,956 (GRCm39)	V1448A	probably benign	Het
Esp24	A	G	17: 39,350,893 (GRCm39)	E31G	possibly damaging	Het
F2rl2	T	A	13: 95,837,969 (GRCm39)	M338K	probably benign	Het
Fbxl9	A	T	8: 106,039,824 (GRCm39)	V517E	probably damaging	Het
Fgfbp1	A	C	5: 44,137,265 (GRCm39)	L9R	possibly damaging	Het
Gal3st2b	A	T	1: 93,868,338 (GRCm39)	N188Y	probably damaging	Het
Gpr179	G	C	11: 97,237,404 (GRCm39)	C372W	probably damaging	Het
Grn	T	G	11: 102,324,093 (GRCm39)	C61G	probably damaging	Het
Herc1	T	G	9: 66,376,292 (GRCm39)	C3371G	probably damaging	Het
Herc1	T	C	9: 66,409,366 (GRCm39)		probably null	Het
Hmcn1	C	T	1: 150,462,219 (GRCm39)	G5153D	possibly damaging	Het
Ifi35	A	T	11: 101,347,461 (GRCm39)	R31W	probably damaging	Het
Ifit1bl1	T	A	19: 34,571,260 (GRCm39)	H399L	probably benign	Het
Irx3	G	A	8: 92,527,362 (GRCm39)	P114L	probably damaging	Het
Kmt2d	G	T	15: 98,741,363 (GRCm39)		probably benign	Het
Kng1	A	T	16: 22,897,869 (GRCm39)	H423L	possibly damaging	Het
Lrp2	T	A	2: 69,326,833 (GRCm39)	Q1746L	possibly damaging	Het
Lrrc63	A	T	14: 75,323,784 (GRCm39)		probably null	Het
Mad2l1	T	A	6: 66,516,797 (GRCm39)	V163E	possibly damaging	Het
Map3k19	A	G	1: 127,750,417 (GRCm39)	M978T	probably benign	Het
Mon1a	A	C	9: 107,778,562 (GRCm39)	N262T	probably damaging	Het
Mpo	A	G	11: 87,686,707 (GRCm39)	N85D	probably benign	Het
Mpp4	T	C	1: 59,183,969 (GRCm39)	D244G	probably null	Het
Mstn	A	G	1: 53,105,717 (GRCm39)	Y353C	probably damaging	Het
Mx1	T	A	16: 97,255,358 (GRCm39)	N232Y	probably damaging	Het
Mycs	T	C	X: 5,380,157 (GRCm39)	R308G	probably benign	Het
Myh11	A	T	16: 14,095,734 (GRCm39)	D9E	probably benign	Het
Nfe2l3	A	T	6: 51,410,392 (GRCm39)	Q169L	probably null	Het
Nr5a1	G	T	2: 38,598,431 (GRCm39)	T122N	possibly damaging	Het
Nras	A	G	3: 102,966,295 (GRCm39)	T20A	probably damaging	Het
Obp2b	T	A	2: 25,628,652 (GRCm39)		probably null	Het
Or1l4	A	G	2: 37,091,439 (GRCm39)	Y62C	probably damaging	Het
Or51g2	T	C	7: 102,622,263 (GRCm39)	N312S	probably benign	Het
Or5aq6	T	C	2: 86,923,571 (GRCm39)	T57A	probably damaging	Het
Or5w18	T	A	2: 87,633,106 (GRCm39)	F124L	probably benign	Het
Or9s14	G	A	1: 92,536,122 (GRCm39)	V188M	probably benign	Het
Pcdh17	A	T	14: 84,715,094 (GRCm39)	T920S	probably benign	Het
Pcdh9	T	C	14: 94,124,661 (GRCm39)	D503G	probably benign	Het
Pcdhb12	C	T	18: 37,569,724 (GRCm39)	T290I	probably damaging	Het
Pde6b	C	A	5: 108,536,557 (GRCm39)	C84*	probably null	Het
Pex1	A	T	5: 3,680,044 (GRCm39)	N914I	probably damaging	Het
Pign	A	G	1: 105,517,042 (GRCm39)	V528A	possibly damaging	Het
Pkhd1	T	G	1: 20,604,129 (GRCm39)	D1187A	possibly damaging	Het
Ppip5k1	T	C	2: 121,173,112 (GRCm39)	K489E	probably damaging	Het
Prob1	T	C	18: 35,786,305 (GRCm39)	T650A	possibly damaging	Het
Radil	T	C	5: 142,481,091 (GRCm39)	Y572C	probably damaging	Het
Rapgef2	A	G	3: 78,996,098 (GRCm39)	I555T	possibly damaging	Het
Rgs5	G	A	1: 169,510,386 (GRCm39)		probably null	Het
Rnaset2b	G	A	17: 7,248,506 (GRCm39)		probably null	Het
S1pr1	A	G	3: 115,505,587 (GRCm39)	S336P	probably benign	Het
Slc24a5	A	G	2: 124,925,115 (GRCm39)	E252G	possibly damaging	Het
Slc34a2	A	T	5: 53,218,733 (GRCm39)	I184F	probably benign	Het
Slc35a3	A	G	3: 116,471,597 (GRCm39)	V224A	possibly damaging	Het
Slc39a9	A	G	12: 80,723,976 (GRCm39)	H211R	probably damaging	Het
Slu7	A	G	11: 43,330,095 (GRCm39)	N174S	probably benign	Het
Smarcd3	A	T	5: 24,800,820 (GRCm39)	Y131*	probably null	Het
Syne1	A	G	10: 5,317,621 (GRCm39)	M491T	probably benign	Het
Tars1	G	A	15: 11,394,329 (GRCm39)	Q103*	probably null	Het
Tmem132d	C	A	5: 127,866,919 (GRCm39)	E660D	probably benign	Het
Ttn	T	C	2: 76,575,387 (GRCm39)	T16842A	probably damaging	Het
Ttn	T	C	2: 76,643,316 (GRCm39)	E13201G	probably damaging	Het
Ttn	T	A	2: 76,582,605 (GRCm39)	M22763L	probably benign	Het
Ubp1	A	T	9: 113,785,037 (GRCm39)	I117L	possibly damaging	Het
Usp24	T	A	4: 106,234,756 (GRCm39)	H954Q	probably benign	Het
Vmn1r174	G	A	7: 23,453,622 (GRCm39)	R96H	probably benign	Het
Vmn2r63	G	A	7: 42,577,669 (GRCm39)	Q290*	probably null	Het
Vnn3	T	C	10: 23,741,718 (GRCm39)	I341T	probably benign	Het
Wbp2nl	A	G	15: 82,189,945 (GRCm39)	T46A	probably damaging	Het
Wdr48	G	T	9: 119,753,313 (GRCm39)	E625*	probably null	Het
Wdr6	C	T	9: 108,452,363 (GRCm39)	V507I	probably damaging	Het
Zp2	A	T	7: 119,737,328 (GRCm39)	W287R	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- ACTCTGACTCTGAGAGACCAATGCC -3'
(R):5'- TCAGTTACCAGAGCTGCTGAGCAC -3'

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

Posted On

2014-05-23