Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01886:Kat7'

179153

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kat7

Ensembl Gene

ENSMUSG00000038909

Gene Name

K(lysine) acetyltransferase 7

Synonyms

Myst2, Hboa, Hbo1

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01886

Quality Score

Status

Chromosome

Chromosomal Location

95274259-95310246 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 95306133 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 27 (T27A)

Ref Sequence

ENSEMBL: ENSMUSP00000103362 (fasta)

Gene Model

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

AlphaFold

Q5SVQ0

Predicted Effect

probably benign
Transcript: ENSMUST00000072621
AA Change: T29A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000072416
Gene: ENSMUSG00000038909
AA Change: T29A

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: T29A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000090441
Gene: ENSMUSG00000038909
AA Change: T29A

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: T27A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000099448
Gene: ENSMUSG00000038909
AA Change: T27A

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: T27A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000103361
Gene: ENSMUSG00000038909
AA Change: T27A

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: T27A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000103362
Gene: ENSMUSG00000038909
AA Change: T27A

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: ENSMUST00000122837

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143171

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144456

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146365

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154327

Coding Region Coverage

Validation Efficiency

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akt1	C	T	12: 112,659,158	V136M	probably benign	Het
Ankrd34c	A	T	9: 89,730,265	L8M	possibly damaging	Het
Anks6	C	A	4: 47,044,850	W352L	probably damaging	Het
Arhgap12	A	T	18: 6,027,613	N768K	probably damaging	Het
C130026I21Rik	A	G	1: 85,254,186		probably benign	Het
Clec7a	A	T	6: 129,463,177		probably benign	Het
Cyp3a13	G	A	5: 137,898,820	P411S	probably damaging	Het
Elavl2	A	G	4: 91,264,093	V129A	probably damaging	Het
Ercc6	T	A	14: 32,569,580	S994T	possibly damaging	Het
Esco1	T	A	18: 10,595,262	K8I	probably damaging	Het
Esr1	T	A	10: 4,856,861	I259K	probably damaging	Het
Filip1l	A	G	16: 57,571,250	I734V	possibly damaging	Het
Gm10717	C	T	9: 3,025,616	S67L	probably benign	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979	S144L	probably benign	Het
Grin3a	T	A	4: 49,702,814	I891F	probably damaging	Het
Kdm1a	A	G	4: 136,561,016		probably null	Het
Kifc5b	T	C	17: 26,932,117	V663A	probably damaging	Het
Lama1	T	G	17: 67,807,797	S2314A	probably benign	Het
Lrrc69	C	T	4: 14,703,984	V279I	probably benign	Het
Mast3	A	T	8: 70,782,139	L774Q	possibly damaging	Het
Med27	C	A	2: 29,413,482	P9Q	probably damaging	Het
Myo5a	C	A	9: 75,169,090		probably benign	Het
Myoz1	T	C	14: 20,655,309	K14E	probably damaging	Het
Neb	T	C	2: 52,183,845		probably benign	Het
Nlrp1a	T	C	11: 71,123,501	T308A	probably benign	Het
Olfr364-ps1	A	G	2: 37,146,509	Y99C	probably damaging	Het
Olfr926	G	T	9: 38,877,548	C124F	probably damaging	Het
Orc1	T	A	4: 108,603,957		probably null	Het
Pnkp	G	A	7: 44,862,207	A76T	probably damaging	Het
Polr3h	T	C	15: 81,917,390	E95G	probably damaging	Het
Prpf40b	T	A	15: 99,304,447	M62K	unknown	Het
Prpf8	C	A	11: 75,495,744	Q1075K	probably benign	Het
Ptprg	A	G	14: 12,179,280	K766E	probably benign	Het
Rabgap1l	A	T	1: 160,342,042	N778K	probably damaging	Het
Riok3	T	A	18: 12,139,385	N204K	probably damaging	Het
Shank3	A	G	15: 89,531,663	K650E	probably damaging	Het
Sim1	T	A	10: 50,984,315	S758T	probably damaging	Het
Slu7	T	G	11: 43,439,260	N171K	probably damaging	Het
Sult6b2	A	G	6: 142,790,126		probably null	Het
Taf6l	C	T	19: 8,778,086		probably null	Het
Ubtfl1	G	A	9: 18,409,721	V182M	possibly damaging	Het
Vmn2r-ps159	C	T	4: 156,338,254		noncoding transcript	Het

Other mutations in Kat7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2014-05-07