Mutagenetix > Incidental Mutation

Incidental Mutation 'R7728:Kat7'

595649

Institutional Source

Beutler Lab

Gene Symbol

Kat7

Ensembl Gene

ENSMUSG00000038909

Gene Name

K(lysine) acetyltransferase 7

Synonyms

Hboa, Hbo1, Myst2

MMRRC Submission

045784-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7728 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

95165085-95201072 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 95190907 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 101 (K101E)

Ref Sequence

ENSEMBL: ENSMUSP00000099448 (fasta)

Gene Model

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

AlphaFold

Q5SVQ0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000072621
AA Change: K162E

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000072416
Gene: ENSMUSG00000038909
AA Change: K162E

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

possibly damaging
Transcript: ENSMUST00000092766
AA Change: K162E

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000090441
Gene: ENSMUSG00000038909
AA Change: K162E

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: K101E

PolyPhen 2 Score 0.253 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000099448
Gene: ENSMUSG00000038909
AA Change: K101E

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

possibly damaging
Transcript: ENSMUST00000107733
AA Change: K160E

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103361
Gene: ENSMUSG00000038909
AA Change: K160E

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

possibly damaging
Transcript: ENSMUST00000107734
AA Change: K160E

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000103362
Gene: ENSMUSG00000038909
AA Change: K160E

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 99.0%

Validation Efficiency

100% (66/66)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	G	A	9: 57,163,822 (GRCm39)	P851S	probably damaging	Het
2210408I21Rik	T	A	13: 77,464,596 (GRCm39)	L931Q	possibly damaging	Het
Abcg3	T	G	5: 105,083,944 (GRCm39)	I609L	probably benign	Het
Acly	A	T	11: 100,407,623 (GRCm39)	F242L	probably damaging	Het
Acly	C	T	11: 100,410,513 (GRCm39)	G155D	probably benign	Het
Acsl5	T	A	19: 55,276,285 (GRCm39)	L370*	probably null	Het
Arhgef17	G	A	7: 100,579,275 (GRCm39)	P558S	probably benign	Het
Bhlha9	T	A	11: 76,563,915 (GRCm39)	S181T	possibly damaging	Het
Birc6	A	G	17: 74,929,100 (GRCm39)	T2331A	probably benign	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Ccdc7b	A	T	8: 129,799,171 (GRCm39)	R83W	unknown	Het
Churc1	T	A	12: 76,820,052 (GRCm39)	N20K	probably benign	Het
Clec9a	T	C	6: 129,392,198 (GRCm39)	S63P	possibly damaging	Het
Cndp2	T	A	18: 84,690,202 (GRCm39)	M247L	probably benign	Het
Cpvl	C	T	6: 53,902,275 (GRCm39)	S329N	probably benign	Het
Cracd	T	C	5: 77,005,316 (GRCm39)	V559A	unknown	Het
Csmd1	A	T	8: 16,281,285 (GRCm39)	W747R	probably damaging	Het
Dhx40	A	T	11: 86,662,759 (GRCm39)	D644E	probably damaging	Het
Disp2	A	T	2: 118,621,961 (GRCm39)	N898Y	probably benign	Het
Dnah3	G	A	7: 119,538,051 (GRCm39)	H666Y	probably damaging	Het
Dnajc2	C	T	5: 21,975,538 (GRCm39)	D222N	possibly damaging	Het
Epha5	A	T	5: 84,215,267 (GRCm39)	M826K	possibly damaging	Het
Fam13a	T	C	6: 58,931,284 (GRCm39)	D432G	possibly damaging	Het
Fkbp6	A	G	5: 135,368,398 (GRCm39)	L276P	probably damaging	Het
Gars1	G	T	6: 55,027,371 (GRCm39)	W155L	probably damaging	Het
Gm12258	C	A	11: 58,750,518 (GRCm39)	H564Q	unknown	Het
Gm3127	A	G	14: 15,425,832 (GRCm39)	D79G	possibly damaging	Het
H2-Q10	T	A	17: 35,781,735 (GRCm39)	I119N	probably damaging	Het
Harbi1	A	G	2: 91,542,626 (GRCm39)	D29G	possibly damaging	Het
Hp1bp3	T	A	4: 137,953,307 (GRCm39)	M155K	probably damaging	Het
Itpr3	T	G	17: 27,317,088 (GRCm39)	M781R	probably damaging	Het
Kif7	A	G	7: 79,360,478 (GRCm39)	I299T	possibly damaging	Het
Krt34	A	G	11: 99,930,811 (GRCm39)		probably null	Het
Krt81	A	G	15: 101,358,087 (GRCm39)	Y389H	probably damaging	Het
Lrrc36	A	T	8: 106,176,130 (GRCm39)	E168V	probably benign	Het
Lrrk1	A	G	7: 65,912,463 (GRCm39)	V1699A	probably benign	Het
Mdh1b	T	A	1: 63,754,429 (GRCm39)	S380C	probably benign	Het
Mlkl	A	G	8: 112,060,251 (GRCm39)	L45P	probably damaging	Het
Mmp13	T	A	9: 7,274,004 (GRCm39)	D159E	probably benign	Het
Nanp	A	G	2: 150,872,835 (GRCm39)	V31A	possibly damaging	Het
Nbeal1	T	C	1: 60,283,983 (GRCm39)	S846P	probably damaging	Het
Neb	G	A	2: 52,073,311 (GRCm39)	R5982C	probably damaging	Het
Nebl	G	T	2: 17,375,325 (GRCm39)	F93L		Het
Or11h6	G	A	14: 50,879,849 (GRCm39)	G31E	probably benign	Het
Pcdhb11	A	T	18: 37,556,530 (GRCm39)	N620I	probably damaging	Het
Pcdhgb2	A	G	18: 37,824,260 (GRCm39)	Y417C	probably damaging	Het
Pwp2	T	C	10: 78,014,395 (GRCm39)	T402A	probably benign	Het
Ralgapb	T	C	2: 158,324,423 (GRCm39)		probably null	Het
Rexo4	G	A	2: 26,854,242 (GRCm39)	A30V	probably benign	Het
Rrs1	T	A	1: 9,616,623 (GRCm39)	M292K	possibly damaging	Het
Shroom3	C	A	5: 92,831,566 (GRCm39)	P14Q	possibly damaging	Het
Slc16a10	T	A	10: 39,916,754 (GRCm39)	I383F	probably damaging	Het
Slco1a8	C	A	6: 141,933,436 (GRCm39)	E470*	probably null	Het
Slk	C	A	19: 47,609,255 (GRCm39)	P736Q	probably damaging	Het
St6galnac2	T	A	11: 116,570,811 (GRCm39)	H259L	probably benign	Het
Stambpl1	T	G	19: 34,213,721 (GRCm39)	S317A	possibly damaging	Het
Syvn1	A	G	19: 6,101,235 (GRCm39)	T429A	unknown	Het
Tbc1d9	A	T	8: 83,985,979 (GRCm39)	E828V	probably damaging	Het
Tmtc2	A	C	10: 105,107,358 (GRCm39)		probably null	Het
Trmt11	A	G	10: 30,463,497 (GRCm39)	I206T	possibly damaging	Het
Trp53bp1	A	C	2: 121,038,380 (GRCm39)	L1436R	probably damaging	Het
Ttll5	C	T	12: 86,003,406 (GRCm39)	R1095W	probably benign	Het
Utp20	A	G	10: 88,634,203 (GRCm39)	F831S	probably damaging	Het
Vmn2r109	T	A	17: 20,773,117 (GRCm39)	Q501H	probably damaging	Het
Zcchc17	A	G	4: 130,230,812 (GRCm39)		probably null	Het
Zfhx3	A	G	8: 109,678,201 (GRCm39)	M3084V	probably benign	Het
Zfp81	T	C	17: 33,555,791 (GRCm39)	N12S	possibly damaging	Het

Other mutations in Kat7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01886:Kat7	APN	11	95,196,959 (GRCm39)	missense	probably benign	0.01
IGL03287:Kat7	APN	11	95,190,935 (GRCm39)	missense	probably damaging	1.00
R0047:Kat7	UTSW	11	95,191,034 (GRCm39)	missense	probably benign	0.07
R0578:Kat7	UTSW	11	95,182,350 (GRCm39)	missense	probably benign	0.00
R1739:Kat7	UTSW	11	95,167,373 (GRCm39)	missense	possibly damaging	0.85
R2038:Kat7	UTSW	11	95,190,928 (GRCm39)	missense	probably benign	0.14
R2115:Kat7	UTSW	11	95,194,120 (GRCm39)	missense	probably benign	0.10
R2214:Kat7	UTSW	11	95,166,631 (GRCm39)	missense	probably damaging	0.99
R2355:Kat7	UTSW	11	95,182,407 (GRCm39)	missense	probably benign
R3425:Kat7	UTSW	11	95,193,991 (GRCm39)	missense	probably damaging	1.00
R3775:Kat7	UTSW	11	95,182,357 (GRCm39)	missense	probably benign	0.00
R3811:Kat7	UTSW	11	95,182,441 (GRCm39)	splice site	probably benign
R4066:Kat7	UTSW	11	95,174,967 (GRCm39)	missense	possibly damaging	0.93
R4169:Kat7	UTSW	11	95,171,298 (GRCm39)	missense	probably damaging	0.99
R4657:Kat7	UTSW	11	95,168,424 (GRCm39)	missense	probably damaging	1.00
R4814:Kat7	UTSW	11	95,193,949 (GRCm39)	splice site	probably benign
R5186:Kat7	UTSW	11	95,177,242 (GRCm39)	missense	probably benign	0.00
R6015:Kat7	UTSW	11	95,174,860 (GRCm39)	missense	probably damaging	1.00
R6820:Kat7	UTSW	11	95,174,965 (GRCm39)	missense	probably damaging	1.00
R6894:Kat7	UTSW	11	95,174,910 (GRCm39)	missense	possibly damaging	0.86
R7192:Kat7	UTSW	11	95,166,656 (GRCm39)	missense	probably benign	0.00
R7217:Kat7	UTSW	11	95,182,390 (GRCm39)	missense	possibly damaging	0.79
R7999:Kat7	UTSW	11	95,174,935 (GRCm39)	missense	probably damaging	1.00
R8230:Kat7	UTSW	11	95,168,415 (GRCm39)	missense	probably damaging	1.00
R8747:Kat7	UTSW	11	95,185,392 (GRCm39)	missense	probably damaging	1.00
R8929:Kat7	UTSW	11	95,196,982 (GRCm39)	missense	probably damaging	1.00
R9166:Kat7	UTSW	11	95,190,928 (GRCm39)	missense	probably benign
R9239:Kat7	UTSW	11	95,197,020 (GRCm39)	missense	probably benign	0.20

Predicted Primers

PCR Primer
(F):5'- CAGCTCTTGTTCACGATTGC -3'
(R):5'- AAGCCCACCAACTCTTCTTG -3'

Sequencing Primer
(F):5'- ACGATTGCTCTGAGTTCACAAC -3'
(R):5'- TGCCTAGCCAGTCTTTAAATAGAGGG -3'

Posted On

2019-11-12