Mutagenetix > Incidental Mutation

Incidental Mutation 'R0047:Kat7'

32982

Institutional Source

Beutler Lab

Gene Symbol

Kat7

Ensembl Gene

ENSMUSG00000038909

Gene Name

K(lysine) acetyltransferase 7

Synonyms

Myst2, Hboa, Hbo1

MMRRC Submission

038341-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0047 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

95274259-95310246 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 95300208 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 119 (N119K)

Ref Sequence

ENSEMBL: ENSMUSP00000072416 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072621] [ENSMUST00000092766] [ENSMUST00000103159] [ENSMUST00000107733] [ENSMUST00000107734]

AlphaFold

Q5SVQ0

Predicted Effect

probably benign
Transcript: ENSMUST00000072621
AA Change: N119K

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000072416
Gene: ENSMUSG00000038909
AA Change: N119K

Domain	Start	End	E-Value	Type
low complexity region	37	59	N/A	INTRINSIC
low complexity region	136	147	N/A	INTRINSIC
Pfam:zf-C2HC	184	214	3.2e-17	PFAM
ZnF_C2H2	338	364	1.86e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000092766
AA Change: N119K

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000090441
Gene: ENSMUSG00000038909
AA Change: N119K

Domain	Start	End	E-Value	Type
low complexity region	37	59	N/A	INTRINSIC
low complexity region	136	147	N/A	INTRINSIC
Pfam:zf-C2HC	186	214	1.2e-16	PFAM
ZnF_C2H2	368	394	1.86e1	SMART
Pfam:MOZ_SAS	395	573	7.9e-89	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000103159
AA Change: N58K

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000099448
Gene: ENSMUSG00000038909
AA Change: N58K

Domain	Start	End	E-Value	Type
low complexity region	35	50	N/A	INTRINSIC
low complexity region	75	86	N/A	INTRINSIC
Pfam:zf-C2HC	123	153	2.8e-17	PFAM
ZnF_C2H2	277	303	1.86e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107733
AA Change: N117K

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000103361
Gene: ENSMUSG00000038909
AA Change: N117K

Domain	Start	End	E-Value	Type
low complexity region	35	57	N/A	INTRINSIC
low complexity region	134	145	N/A	INTRINSIC
Pfam:zf-C2HC	182	212	2.3e-17	PFAM
ZnF_C2H2	336	362	1.86e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107734
AA Change: N117K

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000103362
Gene: ENSMUSG00000038909
AA Change: N117K

Domain	Start	End	E-Value	Type
low complexity region	35	57	N/A	INTRINSIC
low complexity region	134	145	N/A	INTRINSIC
Pfam:zf-C2HC	182	212	2.5e-17	PFAM
ZnF_C2H2	366	392	1.86e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144456

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146365

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154327

Meta Mutation Damage Score

0.0605

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.8%

Validation Efficiency

100% (98/98)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is part of the multimeric HBO1 complex, which possesses histone H4-specific acetyltransferase activity. This activity is required for functional replication origins and is involved in transcriptional activation of some genes. In both cases, the acetylation of histone H4 helps unfold chromatin so that the DNA can be accessed and replicated or transcribed. [provided by RefSeq, Oct 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic growth arrest, incomplete embryo turning, disorganized yolk sac vascular plexus, and increased apoptosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 138,066,264	T405A	probably damaging	Het
4932438A13Rik	T	A	3: 36,908,192	L481M	possibly damaging	Het
Acer1	A	T	17: 56,955,624	D175E	possibly damaging	Het
Acsf2	T	C	11: 94,569,342	I395V	probably benign	Het
Adamts9	G	A	6: 92,905,306		probably benign	Het
Amigo3	T	C	9: 108,054,658	S427P	probably benign	Het
Ankrd35	A	G	3: 96,684,063	K555R	probably benign	Het
Arhgap35	A	T	7: 16,561,992	H1049Q	probably benign	Het
Arhgef5	G	A	6: 43,265,621		probably null	Het
Arid4a	T	G	12: 71,075,419	L858W	probably damaging	Het
Bbox1	A	G	2: 110,268,302	F310S	probably damaging	Het
Bhlhe22	T	C	3: 18,055,569	L261P	probably damaging	Het
Bmper	T	A	9: 23,406,686	C534S	probably damaging	Het
Cacna1d	T	G	14: 30,346,790		probably benign	Het
Camk2g	G	A	14: 20,771,068		probably benign	Het
Capn12	G	A	7: 28,890,387		probably null	Het
Cdkl4	T	G	17: 80,550,845	N115T	probably benign	Het
Chchd1	T	C	14: 20,704,163	S48P	possibly damaging	Het
Chia1	G	T	3: 106,115,257	C49F	probably damaging	Het
Cnot7	A	G	8: 40,495,921		probably benign	Het
Crh	T	C	3: 19,694,037	E147G	probably damaging	Het
Cux1	T	C	5: 136,363,253		probably benign	Het
Cyp2b19	T	A	7: 26,766,826	D351E	probably benign	Het
Dctn1	G	T	6: 83,182,632	G31*	probably null	Het
Duox1	T	A	2: 122,346,641		probably benign	Het
Egflam	T	G	15: 7,253,430	E382A	possibly damaging	Het
Ext1	T	C	15: 53,345,146	N73S	probably benign	Het
Ffar4	A	G	19: 38,114,004		probably benign	Het
Glg1	A	T	8: 111,165,582	M866K	probably damaging	Het
Golm1	T	A	13: 59,645,100	H197L	probably benign	Het
Gtse1	A	G	15: 85,862,378	K132E	probably damaging	Het
Gxylt2	A	T	6: 100,733,378		probably benign	Het
Hrc	T	A	7: 45,336,689	S421R	probably benign	Het
Ighg2c	T	A	12: 113,288,168		probably benign	Het
Ihh	A	G	1: 74,946,591	I245T	probably benign	Het
Ilf3	T	A	9: 21,388,714	M65K	possibly damaging	Het
Insr	A	G	8: 3,202,947	V404A	probably damaging	Het
Irak2	G	T	6: 113,672,953		probably benign	Het
Irak2	G	A	6: 113,678,738	V367I	probably benign	Het
Kif9	A	G	9: 110,485,038	I33V	probably benign	Het
Klf17	A	G	4: 117,761,032	Y43H	probably benign	Het
Kng2	T	A	16: 22,987,563	T629S	possibly damaging	Het
Lama1	A	T	17: 67,795,186		probably benign	Het
Lamb1	T	C	12: 31,278,601	I188T	possibly damaging	Het
Lpp	T	A	16: 24,661,800		probably benign	Het
Lrp12	T	C	15: 39,878,239	E360G	probably damaging	Het
Mark2	A	C	19: 7,283,577		probably benign	Het
Mmp3	T	C	9: 7,451,910		probably benign	Het
Mthfd1l	T	A	10: 3,978,727		probably benign	Het
Mtr	A	T	13: 12,222,226	S569T	probably damaging	Het
Myh13	T	A	11: 67,367,237	S1752T	probably benign	Het
Myo5a	T	A	9: 75,156,207	L565H	probably damaging	Het
Nanos3	C	T	8: 84,176,134	R133Q	probably damaging	Het
Nfkb1	A	T	3: 135,595,053	L72*	probably null	Het
Numa1	A	G	7: 102,009,453	K296E	probably damaging	Het
Olfr1477	A	G	19: 13,502,589	E82G	probably benign	Het
Olfr186	T	A	16: 59,027,224	M228L	probably benign	Het
Olfr201	C	T	16: 59,269,211	G152D	probably damaging	Het
Olfr508	A	G	7: 108,630,552	I187V	probably benign	Het
Olfr613	A	T	7: 103,552,322	Y179F	probably damaging	Het
Pcdhb5	A	T	18: 37,321,268	I234F	possibly damaging	Het
Pgm5	T	A	19: 24,684,556	I545F	probably damaging	Het
Pla2g2c	T	C	4: 138,743,590		probably benign	Het
Pnpla7	A	T	2: 25,011,606	E548V	probably damaging	Het
Ppm1m	C	A	9: 106,196,696	E273*	probably null	Het
Ppp2r1b	C	T	9: 50,861,573	R117*	probably null	Het
Rabgap1l	G	A	1: 160,231,789		probably benign	Het
Rapgef6	T	A	11: 54,546,378	M49K	possibly damaging	Het
Rhox4f	A	C	X: 37,607,469	V15G	probably benign	Het
Rnf219	T	A	14: 104,503,344		probably null	Het
Rtel1	T	G	2: 181,323,405	I146M	probably damaging	Het
Sdr9c7	A	T	10: 127,903,672	M219L	probably benign	Het
Serpina3g	T	A	12: 104,240,284	S115T	possibly damaging	Het
Serpinb1a	A	T	13: 32,850,276	L44Q	probably damaging	Het
Slc13a4	A	G	6: 35,287,362	I190T	possibly damaging	Het
Slc46a2	A	G	4: 59,914,392	L177P	probably damaging	Het
Slc47a2	C	T	11: 61,336,242	V167M	possibly damaging	Het
Snrnp200	C	T	2: 127,234,954		probably benign	Het
Snx13	C	A	12: 35,101,124		probably benign	Het
Snx25	C	T	8: 46,041,365	A828T	probably damaging	Het
Spic	A	G	10: 88,675,941	L151P	probably damaging	Het
Ssu2	G	A	6: 112,374,820	H315Y	probably damaging	Het
Stk32a	T	C	18: 43,313,378		probably benign	Het
Tbx3	A	T	5: 119,680,446	E382V	probably damaging	Het
Tcaf2	A	G	6: 42,629,613	I469T	probably benign	Het
Tln2	A	G	9: 67,240,672		probably benign	Het
Top2a	T	A	11: 98,997,856	I1260L	probably benign	Het
Treml1	C	A	17: 48,364,980	S91*	probably null	Het
Trim26	T	C	17: 36,857,864		probably benign	Het
Trmt11	T	C	10: 30,535,243	N418S	probably benign	Het
Ttf1	A	G	2: 29,084,655	Y801C	probably damaging	Het
Usp34	C	T	11: 23,464,403	A2782V	probably benign	Het
Vmn2r77	T	C	7: 86,811,650	V728A	probably benign	Het
Vps4a	T	C	8: 107,036,701	L29P	probably damaging	Het
Wdfy3	A	G	5: 101,944,033	I480T	probably damaging	Het
Wdr41	A	G	13: 95,010,287	I197V	probably damaging	Het
Ywhag	A	T	5: 135,911,299	V147E	probably damaging	Het
Zan	A	G	5: 137,403,656	M4058T	unknown	Het
Zfp236	C	T	18: 82,680,692	C88Y	probably damaging	Het

Other mutations in Kat7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01886:Kat7	APN	11	95306133	missense	probably benign	0.01
IGL03287:Kat7	APN	11	95300109	missense	probably damaging	1.00
R0578:Kat7	UTSW	11	95291524	missense	probably benign	0.00
R1739:Kat7	UTSW	11	95276547	missense	possibly damaging	0.85
R2038:Kat7	UTSW	11	95300102	missense	probably benign	0.14
R2115:Kat7	UTSW	11	95303294	missense	probably benign	0.10
R2214:Kat7	UTSW	11	95275805	missense	probably damaging	0.99
R2355:Kat7	UTSW	11	95291581	missense	probably benign
R3425:Kat7	UTSW	11	95303165	missense	probably damaging	1.00
R3775:Kat7	UTSW	11	95291531	missense	probably benign	0.00
R3811:Kat7	UTSW	11	95291615	splice site	probably benign
R4066:Kat7	UTSW	11	95284141	missense	possibly damaging	0.93
R4169:Kat7	UTSW	11	95280472	missense	probably damaging	0.99
R4657:Kat7	UTSW	11	95277598	missense	probably damaging	1.00
R4814:Kat7	UTSW	11	95303123	splice site	probably benign
R5186:Kat7	UTSW	11	95286416	missense	probably benign	0.00
R6015:Kat7	UTSW	11	95284034	missense	probably damaging	1.00
R6820:Kat7	UTSW	11	95284139	missense	probably damaging	1.00
R6894:Kat7	UTSW	11	95284084	missense	possibly damaging	0.86
R7192:Kat7	UTSW	11	95275830	missense	probably benign	0.00
R7217:Kat7	UTSW	11	95291564	missense	possibly damaging	0.79
R7728:Kat7	UTSW	11	95300081	missense	probably benign	0.25
R7999:Kat7	UTSW	11	95284109	missense	probably damaging	1.00
R8230:Kat7	UTSW	11	95277589	missense	probably damaging	1.00
R8747:Kat7	UTSW	11	95294566	missense	probably damaging	1.00
R8929:Kat7	UTSW	11	95306156	missense	probably damaging	1.00
R9166:Kat7	UTSW	11	95300102	missense	probably benign
R9239:Kat7	UTSW	11	95306194	missense	probably benign	0.20

Predicted Primers

PCR Primer
(F):5'- AGAGAGATCACTGCCTGAGTCCTTC -3'
(R):5'- AACACTCGTGATGGTGAGAACACAG -3'

Sequencing Primer
(F):5'- CATTTCCGGTTGGAGTTCGA -3'
(R):5'- taggacaggagaggcagg -3'

Posted On

2013-05-09