Mutagenetix > Incidental Mutations

Incidental Mutation 'R2115:Kat7'

233052

Institutional Source

Beutler Lab

Gene Symbol

Kat7

Ensembl Gene

ENSMUSG00000038909

Gene Name

K(lysine) acetyltransferase 7

Synonyms

Myst2, Hboa, Hbo1

MMRRC Submission

040119-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R2115 (G1)

Quality Score

224

Status

Validated

Chromosome

Chromosomal Location

95274259-95310246 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 95303294 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 60 (R60Q)

Ref Sequence

ENSEMBL: ENSMUSP00000103361 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000072621
AA Change: R62Q

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000072416
Gene: ENSMUSG00000038909
AA Change: R62Q

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: R62Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000090441
Gene: ENSMUSG00000038909
AA Change: R62Q

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

SMART Domains

Protein: ENSMUSP00000099448
Gene: ENSMUSG00000038909

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: R60Q

PolyPhen 2 Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000103361
Gene: ENSMUSG00000038909
AA Change: R60Q

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: R60Q

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

SMART Domains

Protein: ENSMUSP00000103362
Gene: ENSMUSG00000038909
AA Change: R60Q

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: ENSMUST00000143171

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144456

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146365

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154327

Meta Mutation Damage Score

0.0685

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

98% (95/97)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
8030462N17Rik	T	C	18: 77,674,472	D48G	possibly damaging	Het
Aatk	T	C	11: 120,009,736	T1195A	probably benign	Het
Abca12	A	T	1: 71,244,771	N2547K	probably benign	Het
Abca16	A	C	7: 120,540,645	E1510A	probably damaging	Het
Adam5	A	G	8: 24,744,145		probably benign	Het
Akna	G	A	4: 63,395,160	P242L	probably benign	Het
Akr1b7	G	A	6: 34,418,994	A144T	possibly damaging	Het
Ankhd1	T	A	18: 36,634,308	S1167T	probably damaging	Het
Arf5	C	T	6: 28,424,784	Q71*	probably null	Het
Arl15	C	T	13: 113,967,660	S111F	probably damaging	Het
Atxn1l	C	T	8: 109,732,608	A341T	probably benign	Het
Birc7	C	A	2: 180,930,849	Q138K	possibly damaging	Het
Blvra	G	T	2: 127,086,069	E80*	probably null	Het
Ccdc148	T	C	2: 59,002,116	E188G	probably damaging	Het
Chad	C	T	11: 94,568,226	A318V	probably benign	Het
Cntfr	A	G	4: 41,663,534		probably null	Het
Dirc2	T	C	16: 35,697,939	D468G	probably benign	Het
Dnah17	C	T	11: 118,119,802	C230Y	probably benign	Het
Dnmt3l	C	A	10: 78,063,296	L110I	probably damaging	Het
Dusp11	T	C	6: 85,958,669	D74G	probably damaging	Het
Eif3m	T	C	2: 105,006,796	T61A	probably damaging	Het
Esyt1	T	A	10: 128,522,104	D212V	probably damaging	Het
Exoc4	T	A	6: 33,347,825	N351K	possibly damaging	Het
F13a1	A	T	13: 36,988,857	I183N	probably damaging	Het
Fam83f	T	G	15: 80,692,267	V373G	possibly damaging	Het
Fam83h	A	T	15: 76,002,297	Y1064N	probably damaging	Het
Flrt3	G	T	2: 140,661,503	N68K	probably damaging	Het
Fut7	C	A	2: 25,425,331	Y153*	probably null	Het
Gm10277	TC	T	11: 77,786,002		probably null	Het
Gm1527	T	C	3: 28,917,949	L405P	probably benign	Het
Gm4981	T	C	10: 58,236,251	D47G	possibly damaging	Het
Heatr6	T	A	11: 83,757,455		probably benign	Het
Herc2	T	C	7: 56,185,828		probably benign	Het
Ints14	T	G	9: 64,979,795	L336R	probably damaging	Het
Irak1	G	T	X: 74,022,612	P197Q	possibly damaging	Het
Katnal2	T	C	18: 76,980,091	R385G	probably damaging	Het
Kcnt2	G	T	1: 140,552,963	L755F	probably damaging	Het
Kif4	A	G	X: 100,665,717	S315G	probably benign	Het
Kifc3	A	G	8: 95,108,713	Y178H	probably damaging	Het
Krit1	A	T	5: 3,822,108	R378*	probably null	Het
L3mbtl1	T	A	2: 162,960,070		probably null	Het
Lama3	C	A	18: 12,402,849	T204N	possibly damaging	Het
Lama5	A	G	2: 180,186,885	C2090R	probably damaging	Het
Mb	G	T	15: 77,022,559	Q9K	probably benign	Het
Mipep	T	C	14: 60,787,380	V90A	probably damaging	Het
Myo3a	A	T	2: 22,245,531	I70F	probably damaging	Het
Napa	A	G	7: 16,114,209	D217G	possibly damaging	Het
Nectin2	T	C	7: 19,717,564	D515G	probably damaging	Het
Nkx2-6	T	A	14: 69,171,839	V13E	probably damaging	Het
Nmi	T	C	2: 51,948,707	T272A	probably benign	Het
Nptx2	G	C	5: 144,555,406	G331A	probably damaging	Het
Olfr1228	T	C	2: 89,249,530	I55V	probably damaging	Het
Olfr183	T	C	16: 59,000,420	L245P	possibly damaging	Het
Olfr450	A	G	6: 42,817,497	T9A	possibly damaging	Het
Olfr854	T	C	9: 19,567,322	T18A	probably benign	Het
Parp14	T	C	16: 35,858,534	T355A	probably benign	Het
Pcdh12	T	C	18: 38,283,986	T29A	probably damaging	Het
Pced1b	T	A	15: 97,384,624	C181*	probably null	Het
Phka1	C	T	X: 102,610,201	R290H	probably damaging	Het
Pick1	T	A	15: 79,255,581		probably benign	Het
Pitrm1	A	T	13: 6,557,773	Y268F	probably damaging	Het
Polr2h	T	C	16: 20,718,987		probably benign	Het
Ppfia2	A	T	10: 106,762,111	K178N	probably damaging	Het
Prkag1	T	C	15: 98,814,552	Y133C	probably damaging	Het
Ptk2	A	G	15: 73,242,406	V701A	possibly damaging	Het
Ptpra	G	T	2: 130,539,735	R372L	probably damaging	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Qrich2	A	G	11: 116,447,156	V1887A	probably damaging	Het
Ralgapa1	T	C	12: 55,786,349		probably null	Het
Rassf9	A	G	10: 102,544,945	T63A	probably benign	Het
Rdh11	G	T	12: 79,176,222	Q292K	probably benign	Het
Rere	C	A	4: 150,612,561		probably benign	Het
Rgs18	G	T	1: 144,753,891	T210K	possibly damaging	Het
Rnf213	A	G	11: 119,428,013	N1099S	probably benign	Het
Ros1	T	C	10: 52,128,555	I969V	probably benign	Het
Rrh	T	C	3: 129,810,687	I288M	probably damaging	Het
Rrp12	C	T	19: 41,891,094	V174I	probably benign	Het
Rtf1	T	A	2: 119,705,518	H184Q	probably benign	Het
Sbk3	A	G	7: 4,967,416	L318S	possibly damaging	Het
Scn9a	T	C	2: 66,484,052	E1774G	probably damaging	Het
Sec11c	A	T	18: 65,800,649	T9S	probably benign	Het
Sec23ip	G	A	7: 128,762,461	V488I	probably benign	Het
Serpine3	T	C	14: 62,673,010	L184P	probably damaging	Het
Slc26a2	T	C	18: 61,198,824	T512A	possibly damaging	Het
Smpd4	T	C	16: 17,626,865	Y118H	probably benign	Het
Tcof1	T	C	18: 60,832,785	E415G	possibly damaging	Het
Ttc33	G	A	15: 5,212,053	V120I	probably benign	Het
Usp20	T	A	2: 31,016,305	C562S	probably damaging	Het
Utp20	T	C	10: 88,786,003	D1136G	probably benign	Het
Vgll1	A	C	X: 57,092,430	K53T	probably damaging	Het
Yars	T	G	4: 129,207,923		probably null	Het
Zfp472	A	G	17: 32,978,014	I354M	possibly damaging	Het
Zfp786	A	G	6: 47,826,997	V37A	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
R0047:Kat7	UTSW	11	95300208	missense	probably benign	0.07
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
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

Predicted Primers

PCR Primer
(F):5'- GACCCACTTACCTCTATCTGAAAAG -3'
(R):5'- GTGGAGCTCAGTCTTTACTCC -3'

Sequencing Primer
(F):5'- TCTATCTGAAAAGTCCACCACCTG -3'
(R):5'- TGTGTGAATGGATATAAAATGG -3'

Posted On

2014-09-18