Mutagenetix > Incidental Mutation

Incidental Mutation 'R5186:Kat7'

397900

Institutional Source

Beutler Lab

Gene Symbol

Kat7

Ensembl Gene

ENSMUSG00000038909

Gene Name

K(lysine) acetyltransferase 7

Synonyms

Hboa, Hbo1, Myst2

MMRRC Submission

042765-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5186 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

95165085-95201072 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 95177242 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 293 (T293S)

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: T265S

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

SMART Domains

Protein: ENSMUSP00000072416
Gene: ENSMUSG00000038909
AA Change: T265S

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: T295S

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

SMART Domains

Protein: ENSMUSP00000090441
Gene: ENSMUSG00000038909
AA Change: T295S

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: T204S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000099448
Gene: ENSMUSG00000038909
AA Change: T204S

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: T263S

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

SMART Domains

Protein: ENSMUSP00000103361
Gene: ENSMUSG00000038909
AA Change: T263S

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: T293S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000103362
Gene: ENSMUSG00000038909
AA Change: T293S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144456

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149356

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	T	C	11: 109,982,425 (GRCm39)	I6V	probably null	Het
Aox1	A	G	1: 58,107,529 (GRCm39)	D601G	probably damaging	Het
Asic1	GCACC	GCACCACC	15: 99,596,684 (GRCm39)		probably benign	Het
Cacna1g	T	G	11: 94,333,674 (GRCm39)	N931T	probably damaging	Het
Ccdc14	T	C	16: 34,541,955 (GRCm39)	F511L	probably damaging	Het
Cd177	T	A	7: 24,444,348 (GRCm39)	E710V	probably benign	Het
Cep112	T	C	11: 108,643,386 (GRCm39)	C49R	probably benign	Het
Clip2	G	A	5: 134,551,645 (GRCm39)	T159M	possibly damaging	Het
Dnah2	T	C	11: 69,326,710 (GRCm39)	N3575S	probably damaging	Het
Dnah6	T	A	6: 73,044,410 (GRCm39)	I3234F	probably damaging	Het
Eci3	G	T	13: 35,130,961 (GRCm39)	A302E	possibly damaging	Het
Fam204a	T	C	19: 60,188,421 (GRCm39)	K214E	probably damaging	Het
Fam78a	T	C	2: 31,972,666 (GRCm39)	T85A	possibly damaging	Het
Flnb	T	C	14: 7,909,748 (GRCm38)	Y1401H	probably damaging	Het
Foxl2	A	T	9: 98,838,108 (GRCm39)	D132V	probably damaging	Het
Frs2	C	A	10: 116,914,747 (GRCm39)	W57C	probably damaging	Het
Gm26558	G	T	2: 70,491,761 (GRCm39)		probably benign	Het
Gpr139	A	G	7: 118,744,063 (GRCm39)	V174A	probably benign	Het
Grik5	T	C	7: 24,715,244 (GRCm39)	T676A	probably damaging	Het
H60c	T	C	10: 3,209,273 (GRCm39)		probably null	Het
Hspa1l	A	G	17: 35,197,445 (GRCm39)	K495E	probably damaging	Het
Irgm1	C	T	11: 48,757,044 (GRCm39)	V256I	probably benign	Het
Lipg	C	T	18: 75,094,009 (GRCm39)	V13I	probably benign	Het
Lrrn1	A	T	6: 107,546,185 (GRCm39)	Y661F	probably damaging	Het
Mllt3	A	G	4: 87,759,232 (GRCm39)	V272A	probably benign	Het
Mx1	G	A	16: 97,256,694 (GRCm39)	R162C	probably benign	Het
Myo18b	T	A	5: 113,019,336 (GRCm39)	D647V	probably damaging	Het
Naf1	G	A	8: 67,332,298 (GRCm39)	V329I	probably benign	Het
Or4k40	A	T	2: 111,251,119 (GRCm39)	M59K	probably damaging	Het
Or52u1	A	T	7: 104,237,418 (GRCm39)	I153F	probably damaging	Het
Or8g22	A	T	9: 38,958,265 (GRCm39)	C194*	probably null	Het
P2rx5	G	A	11: 73,062,616 (GRCm39)	V442M	possibly damaging	Het
Pcdhb9	A	G	18: 37,534,285 (GRCm39)	E93G	probably damaging	Het
Pcdhga4	A	T	18: 37,820,479 (GRCm39)	N676I	probably benign	Het
Pgm5	A	G	19: 24,797,492 (GRCm39)	M230T	probably damaging	Het
Pik3c2g	T	C	6: 139,599,016 (GRCm39)	V44A	probably damaging	Het
Pp2d1	T	C	17: 53,815,168 (GRCm39)	M519V	probably benign	Het
Ppp1r10	A	G	17: 36,239,403 (GRCm39)	E404G	probably damaging	Het
Prpf8	A	T	11: 75,380,609 (GRCm39)	E104V	possibly damaging	Het
Ptpra	T	C	2: 30,328,367 (GRCm39)		probably null	Het
Pygl	A	C	12: 70,248,118 (GRCm39)	N248K	probably damaging	Het
Rbm8a	A	G	3: 96,538,248 (GRCm39)	D102G	probably damaging	Het
Sema3d	A	G	5: 12,634,875 (GRCm39)	D647G	probably benign	Het
Serpinb11	A	T	1: 107,307,484 (GRCm39)	D305V	probably damaging	Het
Slc12a8	T	C	16: 33,437,578 (GRCm39)	I337T	probably damaging	Het
Slc29a2	G	A	19: 5,078,995 (GRCm39)	R286Q	probably benign	Het
Slc2a3	T	A	6: 122,712,542 (GRCm39)	D234V	probably damaging	Het
Slco4a1	T	C	2: 180,114,901 (GRCm39)	V608A	probably damaging	Het
Spata31d1e	A	T	13: 59,891,553 (GRCm39)	L89H	probably damaging	Het
Srrm2	C	T	17: 24,035,561 (GRCm39)	T831I	probably benign	Het
St18	T	A	1: 6,872,541 (GRCm39)		probably null	Het
Tesk2	G	C	4: 116,599,093 (GRCm39)	G67A	probably damaging	Het
Tlr1	A	T	5: 65,082,564 (GRCm39)	L671H	probably damaging	Het
Tmem63b	A	T	17: 45,972,403 (GRCm39)	Y735N	possibly damaging	Het
Tmprss11a	C	T	5: 86,567,938 (GRCm39)	C263Y	probably damaging	Het
Trio	A	T	15: 27,898,077 (GRCm39)	V345E	probably damaging	Het
Tut7	A	G	13: 59,964,470 (GRCm39)		probably null	Het
Ubr5	A	G	15: 37,998,160 (GRCm39)	S1674P	probably damaging	Het
Uchl3	T	A	14: 101,933,353 (GRCm39)	C209S	probably damaging	Het
Uhmk1	T	C	1: 170,038,736 (GRCm39)	N206S	probably damaging	Het
Uhrf1	C	T	17: 56,625,340 (GRCm39)	R588W	probably damaging	Het
Usp28	T	C	9: 48,921,550 (GRCm39)	V256A	probably damaging	Het
Utrn	C	A	10: 12,604,521 (GRCm39)	L552F	probably damaging	Het
Vmn1r55	A	T	7: 5,149,985 (GRCm39)	M146K	probably damaging	Het
Vmn1r57	A	C	7: 5,224,107 (GRCm39)	I211L	probably benign	Het
Zar1	C	T	5: 72,734,742 (GRCm39)	C316Y	probably damaging	Het
Zc3h11a	A	T	1: 133,549,412 (GRCm39)	S750T	probably damaging	Het
Zfp366	G	A	13: 99,382,676 (GRCm39)	C613Y	probably benign	Het
Zfp37	A	T	4: 62,109,493 (GRCm39)	C524S	probably damaging	Het
Zfp516	T	C	18: 82,975,218 (GRCm39)	V472A	probably benign	Het
Zhx1	A	T	15: 57,915,819 (GRCm39)	M809K	probably damaging	Het
Zic1	T	C	9: 91,246,424 (GRCm39)	Y216C	probably 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
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
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'- TGGTGTGCTCTCCGTGTAAAAG -3'
(R):5'- GGGTTACCAGTTTGCCTGAG -3'

Sequencing Primer
(F):5'- CCAGAGATGTCATCAGACTGGTTG -3'
(R):5'- ACCAGTTTGCCTGAGCTCAG -3'

Posted On

2016-07-06