Mutagenetix > Incidental Mutation

Incidental Mutation 'R7999:Kat7'

616278

Institutional Source

Beutler Lab

Gene Symbol

Kat7

Ensembl Gene

ENSMUSG00000038909

Gene Name

K(lysine) acetyltransferase 7

Synonyms

Hboa, Hbo1, Myst2

MMRRC Submission

046039-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7999 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

95165085-95201072 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 95174935 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 270 (Y270H)

Ref Sequence

ENSEMBL: ENSMUSP00000099448 (fasta)

Gene Model

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

AlphaFold

Q5SVQ0

Predicted Effect

probably damaging
Transcript: ENSMUST00000072621
AA Change: Y331H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000072416
Gene: ENSMUSG00000038909
AA Change: Y331H

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 damaging
Transcript: ENSMUST00000092766
AA Change: Y361H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000090441
Gene: ENSMUSG00000038909
AA Change: Y361H

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 damaging
Transcript: ENSMUST00000103159
AA Change: Y270H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099448
Gene: ENSMUSG00000038909
AA Change: Y270H

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 damaging
Transcript: ENSMUST00000107733
AA Change: Y329H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103361
Gene: ENSMUSG00000038909
AA Change: Y329H

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 damaging
Transcript: ENSMUST00000107734
AA Change: Y359H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103362
Gene: ENSMUSG00000038909
AA Change: Y359H

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

probably benign
Transcript: ENSMUST00000138671

SMART Domains

Protein: ENSMUSP00000121772
Gene: ENSMUSG00000038909

Domain	Start	End	E-Value	Type
Pfam:MOZ_SAS	1	148	1.7e-77	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahi1	A	G	10: 20,841,580 (GRCm39)	E289G	probably benign	Het
Armc2	C	T	10: 41,887,954 (GRCm39)	E10K	possibly damaging	Het
Aspscr1	T	C	11: 120,569,348 (GRCm39)		probably null	Het
B3galnt1	A	G	3: 69,482,548 (GRCm39)	C238R	probably damaging	Het
Bak1	A	G	17: 27,240,280 (GRCm39)	L129P	probably damaging	Het
Bdp1	A	G	13: 100,195,404 (GRCm39)	F1272L	possibly damaging	Het
C2cd3	G	A	7: 100,109,096 (GRCm39)		probably null	Het
Cacna1b	A	T	2: 24,540,638 (GRCm39)	V1363E	probably damaging	Het
Capn11	T	C	17: 45,950,132 (GRCm39)	N344S	probably damaging	Het
Ces1f	A	T	8: 93,989,623 (GRCm39)	V431E	possibly damaging	Het
Cog3	G	T	14: 75,984,533 (GRCm39)	S94Y	possibly damaging	Het
Defa29	A	T	8: 21,816,859 (GRCm39)	S45T	probably benign	Het
Dnaaf9	C	A	2: 130,579,372 (GRCm39)	V753L	probably benign	Het
Dnah10	A	G	5: 124,802,322 (GRCm39)	D32G	probably benign	Het
Dnajc24	T	A	2: 105,811,365 (GRCm39)	N70I	probably damaging	Het
Duox2	C	T	2: 122,113,948 (GRCm39)	V1195I	probably benign	Het
Enam	A	T	5: 88,651,561 (GRCm39)	R1023S	probably benign	Het
Ephx4	A	T	5: 107,567,699 (GRCm39)	Q219L	probably damaging	Het
Eppk1	T	C	15: 75,993,204 (GRCm39)	T1226A	probably benign	Het
Eppk1	T	C	15: 75,993,335 (GRCm39)	Q1182R	probably benign	Het
Fiz1	A	T	7: 5,011,997 (GRCm39)	S174T	probably benign	Het
Ggnbp1	C	T	17: 27,248,619 (GRCm39)	R63C	probably benign	Het
Gmcl1	G	T	6: 86,698,408 (GRCm39)	A163E	probably damaging	Het
Gpr137b	T	C	13: 13,533,991 (GRCm39)	Y355C		Het
Gsdmd	T	A	15: 75,735,295 (GRCm39)	I13N	probably damaging	Het
Gtpbp4	T	C	13: 9,037,322 (GRCm39)	D292G	probably damaging	Het
Hnf1a	A	T	5: 115,098,233 (GRCm39)	L123*	probably null	Het
Ints11	A	G	4: 155,971,413 (GRCm39)	D309G	probably benign	Het
Ints5	T	C	19: 8,874,407 (GRCm39)	S789P	probably benign	Het
Jakmip2	G	A	18: 43,696,398 (GRCm39)	A517V	probably benign	Het
Kmt2b	A	G	7: 30,276,199 (GRCm39)	S1767P	probably damaging	Het
Lonp2	A	G	8: 87,361,537 (GRCm39)	D238G	probably benign	Het
Lrfn3	A	G	7: 30,059,449 (GRCm39)	W259R	probably damaging	Het
Mmrn2	G	A	14: 34,119,879 (GRCm39)	D250N	probably benign	Het
Mre11a	A	T	9: 14,710,965 (GRCm39)	R49*	probably null	Het
Mug1	T	C	6: 121,857,855 (GRCm39)	L1116P	possibly damaging	Het
Mup9	A	G	4: 60,374,202 (GRCm39)	S234P	probably benign	Het
Nlrp9c	A	G	7: 26,084,914 (GRCm39)	F222L	possibly damaging	Het
Nr2e3	A	G	9: 59,856,282 (GRCm39)	V85A	probably damaging	Het
Or4a79	A	G	2: 89,552,344 (GRCm39)	I37T	probably benign	Het
Prl3d2	A	G	13: 27,307,949 (GRCm39)	T77A	probably benign	Het
Prpsap1	A	T	11: 116,381,042 (GRCm39)	M1K	probably null	Het
Prrc2b	C	T	2: 32,084,426 (GRCm39)	T297M	probably damaging	Het
Rasa3	A	G	8: 13,681,805 (GRCm39)	F48S	probably benign	Het
Rbm24	A	T	13: 46,572,507 (GRCm39)	M1L	possibly damaging	Het
Ren1	C	A	1: 133,282,604 (GRCm39)	T103K	probably damaging	Het
Rpf2	C	T	10: 40,099,880 (GRCm39)	G260S	probably damaging	Het
Sall4	C	T	2: 168,594,561 (GRCm39)	G862D	probably damaging	Het
Samd4	G	T	14: 47,301,704 (GRCm39)	R336L	probably damaging	Het
Shoc1	G	C	4: 59,094,162 (GRCm39)	F187L	probably benign	Het
Siglec1	T	C	2: 130,913,083 (GRCm39)	N1611S	probably benign	Het
Skil	A	G	3: 31,151,751 (GRCm39)	H91R	possibly damaging	Het
Snip1	T	C	4: 124,965,174 (GRCm39)	V193A	probably benign	Het
Sp2	A	T	11: 96,852,663 (GRCm39)	I87N	probably damaging	Het
Syna	T	C	5: 134,588,046 (GRCm39)	H301R	probably benign	Het
Tdg	A	G	10: 82,477,216 (GRCm39)	K89R	possibly damaging	Het
Tdrd7	G	A	4: 46,010,902 (GRCm39)		probably null	Het
Trak1	G	A	9: 121,289,491 (GRCm39)	R601H	probably damaging	Het
Triobp	T	C	15: 78,844,144 (GRCm39)	L120P	probably damaging	Het
Utp20	A	T	10: 88,606,250 (GRCm39)	N1697K	probably benign	Het
Uts2r	G	A	11: 121,051,495 (GRCm39)	V120M	possibly damaging	Het
Vmn2r59	A	G	7: 41,696,256 (GRCm39)	L162P	probably damaging	Het
Zbtb17	G	A	4: 141,189,134 (GRCm39)	R18Q	probably damaging	Het
Zfp551	A	T	7: 12,151,138 (GRCm39)	C90*	probably null	Het
Zfp605	T	A	5: 110,276,300 (GRCm39)	C473S	probably damaging	Het
Zfp764l1	T	A	7: 126,991,600 (GRCm39)	S117C	probably damaging	Het
Zfp975	A	T	7: 42,312,356 (GRCm39)	Y86N	probably benign	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
R7728:Kat7	UTSW	11	95,190,907 (GRCm39)	missense	probably benign	0.25
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'- GACACTTGGGAGATCTTTTGGAC -3'
(R):5'- TAGCTTAGTTGCTGGCCTCATAG -3'

Sequencing Primer
(F):5'- GGACGTTTACATTGCCTCTAGAAC -3'
(R):5'- GTGAGCTATAGACACATGCATGCTTG -3'

Posted On

2020-01-23