Mutagenetix > Incidental Mutation

Incidental Mutation 'R3824:Kat6a'

275283

Institutional Source

Beutler Lab

Gene Symbol

Kat6a

Ensembl Gene

ENSMUSG00000031540

Gene Name

K(lysine) acetyltransferase 6A

Synonyms

Zfp220, MOZ, 9930021N24Rik, Myst3

MMRRC Submission

040885-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3824 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

22859535-22943259 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 22862364 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 55 (V55F)

Ref Sequence

ENSEMBL: ENSMUSP00000106324 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044331] [ENSMUST00000110696]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000044331
AA Change: V55F

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

SMART Domains

Protein: ENSMUSP00000038181
Gene: ENSMUSG00000031540
AA Change: V55F

Domain	Start	End	E-Value	Type
H15	85	165	1.88e-5	SMART
low complexity region	184	195	N/A	INTRINSIC
PHD	208	263	1.7e-7	SMART
RING	209	262	1.28e0	SMART
PHD	264	311	9.84e-13	SMART
RING	265	310	4.15e0	SMART
low complexity region	371	378	N/A	INTRINSIC
Pfam:MOZ_SAS	561	748	5.9e-92	PFAM
low complexity region	787	800	N/A	INTRINSIC
low complexity region	985	1003	N/A	INTRINSIC
low complexity region	1011	1029	N/A	INTRINSIC
low complexity region	1031	1044	N/A	INTRINSIC
low complexity region	1066	1079	N/A	INTRINSIC
low complexity region	1149	1162	N/A	INTRINSIC
low complexity region	1224	1238	N/A	INTRINSIC
low complexity region	1257	1273	N/A	INTRINSIC
coiled coil region	1278	1308	N/A	INTRINSIC
low complexity region	1397	1409	N/A	INTRINSIC
low complexity region	1471	1490	N/A	INTRINSIC
low complexity region	1528	1542	N/A	INTRINSIC
low complexity region	1569	1597	N/A	INTRINSIC
low complexity region	1641	1700	N/A	INTRINSIC
low complexity region	1802	1813	N/A	INTRINSIC
low complexity region	1950	1958	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000110696
AA Change: V55F

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

SMART Domains

Protein: ENSMUSP00000106324
Gene: ENSMUSG00000031540
AA Change: V55F

Domain	Start	End	E-Value	Type
H15	85	165	1.88e-5	SMART
low complexity region	184	195	N/A	INTRINSIC
PHD	208	263	1.7e-7	SMART
RING	209	262	1.28e0	SMART
PHD	264	311	9.84e-13	SMART
RING	265	310	4.15e0	SMART
low complexity region	371	378	N/A	INTRINSIC
Pfam:MOZ_SAS	564	742	2.9e-85	PFAM
low complexity region	787	800	N/A	INTRINSIC
low complexity region	985	1003	N/A	INTRINSIC
low complexity region	1011	1029	N/A	INTRINSIC
low complexity region	1031	1044	N/A	INTRINSIC
low complexity region	1066	1079	N/A	INTRINSIC
low complexity region	1149	1162	N/A	INTRINSIC
low complexity region	1224	1238	N/A	INTRINSIC
low complexity region	1257	1273	N/A	INTRINSIC
coiled coil region	1278	1308	N/A	INTRINSIC
low complexity region	1397	1409	N/A	INTRINSIC
low complexity region	1471	1490	N/A	INTRINSIC
low complexity region	1528	1542	N/A	INTRINSIC
low complexity region	1569	1597	N/A	INTRINSIC
low complexity region	1641	1700	N/A	INTRINSIC
low complexity region	1802	1813	N/A	INTRINSIC
low complexity region	1950	1958	N/A	INTRINSIC

Meta Mutation Damage Score

0.2426

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

95% (62/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the MOZ, YBFR2, SAS2, TIP60 family of histone acetyltransferases. The protein is composed of a nuclear localization domain, a double C2H2 zinc finger domain that binds to acetylated histone tails, a histone acetyl-transferase domain, a glutamate/aspartate-rich region, and a serine- and methionine-rich transactivation domain. It is part of a complex that acetylates lysine-9 residues in histone 3, and in addition, it acts as a co-activator for several transcription factors. Allelic variants of this gene are associated with autosomal dominant mental retardation-32. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Homozygous null mice display perinatal lethality, cyanosis, decreased hematopoietic progenitor cell numbers, and severely impaired spleen and thymus development, but are not anemic. Heterozygotes display strain background dependent reductions in fertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300002M23Rik	T	C	17: 35,567,611	C20R	probably benign	Het
6030468B19Rik	A	G	11: 117,802,913	K69E	probably damaging	Het
9430015G10Rik	T	A	4: 156,119,150		probably null	Het
A2ml1	A	G	6: 128,568,763	V467A	probably damaging	Het
Abcc3	T	C	11: 94,368,620		probably null	Het
Acad10	A	T	5: 121,622,818	M941K	probably benign	Het
Agrn	A	G	4: 156,169,302	L1649P	probably damaging	Het
Arhgap12	T	C	18: 6,061,930	R402G	possibly damaging	Het
Atp4b	T	C	8: 13,393,549	Y43C	probably damaging	Het
Btn2a2	T	A	13: 23,480,465	T308S	probably benign	Het
C8b	G	T	4: 104,783,009	A170S	probably benign	Het
Cabyr	T	A	18: 12,751,690	D411E	probably benign	Het
Capn3	T	C	2: 120,484,483		probably benign	Het
Cd200r4	T	C	16: 44,820,950	F19L	probably benign	Het
Cflar	T	A	1: 58,735,697	Y218N	probably benign	Het
Col11a2	T	C	17: 34,054,180	Y630H	probably damaging	Het
Coq6	T	C	12: 84,372,415		probably benign	Het
Drg2	A	G	11: 60,459,508	T98A	possibly damaging	Het
Fam205c	A	G	4: 42,873,492		probably null	Het
Fry	T	A	5: 150,496,419	S1015R	possibly damaging	Het
Gjb4	A	G	4: 127,351,429	S240P	probably benign	Het
Glmp	G	A	3: 88,326,411	V107I	probably damaging	Het
Gls	A	C	1: 52,232,988	M2R	possibly damaging	Het
Gm13078	A	T	4: 143,726,685	H121L	probably benign	Het
Gm5724	T	C	6: 141,754,374	Q144R	possibly damaging	Het
Gm906	G	A	13: 50,245,512	S926F	possibly damaging	Het
Igfbp4	A	G	11: 99,048,235	E27G	probably damaging	Het
Ints8	A	T	4: 11,225,621	Y645*	probably null	Het
Kat8	T	A	7: 127,924,482	D292E	possibly damaging	Het
Myo19	T	A	11: 84,885,679	C54S	probably damaging	Het
Myo5b	C	T	18: 74,661,655	H532Y	probably benign	Het
Nckap1	T	C	2: 80,540,560	K357E	possibly damaging	Het
Ndufaf1	C	T	2: 119,660,271	V105M	probably benign	Het
Olfr1076	T	G	2: 86,509,023	L188R	possibly damaging	Het
Olfr1394	A	G	11: 49,160,793	S260G	possibly damaging	Het
Olfr888	A	T	9: 38,108,838	I51F	possibly damaging	Het
Olfr895	T	G	9: 38,268,518	S2A	probably benign	Het
Olfr904	T	A	9: 38,464,526	C162S	probably benign	Het
Palld	T	C	8: 61,709,033	D439G	probably damaging	Het
Pcf11	T	C	7: 92,659,620		probably benign	Het
Pigo	A	T	4: 43,020,909	W678R	possibly damaging	Het
Pip5kl1	A	T	2: 32,583,271		probably null	Het
Plscr3	G	A	11: 69,850,138	V267M	probably benign	Het
Prom2	A	G	2: 127,535,673		probably benign	Het
Ptk7	A	G	17: 46,565,378	I1049T	probably damaging	Het
Ptprb	A	T	10: 116,350,789	I1743F	probably benign	Het
Ptprm	A	G	17: 66,809,575	V894A	probably benign	Het
Rack1	A	G	11: 48,802,304	T105A	probably benign	Het
Rin2	C	T	2: 145,860,446	T354I	probably benign	Het
Sdk1	A	G	5: 141,936,049	T267A	probably benign	Het
Sorcs3	T	A	19: 48,722,956	D653E	probably damaging	Het
St8sia1	A	G	6: 142,829,025	L276P	probably damaging	Het
Sync	T	C	4: 129,294,363	V396A	possibly damaging	Het
Taok3	A	G	5: 117,255,937	T592A	probably benign	Het
Tas2r104	T	A	6: 131,685,039	I236F	possibly damaging	Het
Tas2r107	A	C	6: 131,659,330	I252S	probably benign	Het
Tmem259	T	C	10: 79,978,448	N334S	possibly damaging	Het
Tsga10	A	T	1: 37,834,197	N200K	possibly damaging	Het
Usp24	G	A	4: 106,379,066	V984I	probably benign	Het
Vmn1r189	T	A	13: 22,102,212	T152S	probably benign	Het
Vmn1r2	A	T	4: 3,172,413	T111S	probably damaging	Het
Vmn2r74	T	G	7: 85,958,258	N86H	probably damaging	Het
Zfp12	T	C	5: 143,240,322	V72A	probably benign	Het

Other mutations in Kat6a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00921:Kat6a	APN	8	22940263	missense	unknown
IGL01093:Kat6a	APN	8	22939321	missense	possibly damaging	0.85
IGL01364:Kat6a	APN	8	22907700	missense	probably damaging	1.00
IGL01868:Kat6a	APN	8	22926455	missense	probably damaging	1.00
IGL02477:Kat6a	APN	8	22929300	missense	probably damaging	1.00
IGL02792:Kat6a	APN	8	22938300	missense	probably damaging	0.98
IGL03243:Kat6a	APN	8	22910222	missense	possibly damaging	0.77
Anning	UTSW	8	22932113	critical splice acceptor site	probably null
Jackal	UTSW	8	22930174	missense	probably damaging	0.99
lobo	UTSW	8	22910249	missense	probably damaging	0.99
lord	UTSW	8	22862364	missense	probably damaging	1.00
master	UTSW	8	22862788	missense	probably damaging	0.99
R0018:Kat6a	UTSW	8	22929273	missense	possibly damaging	0.74
R0018:Kat6a	UTSW	8	22929273	missense	possibly damaging	0.74
R0284:Kat6a	UTSW	8	22939803	missense	unknown
R0636:Kat6a	UTSW	8	22939323	missense	possibly damaging	0.73
R0883:Kat6a	UTSW	8	22862214	missense	probably damaging	1.00
R1457:Kat6a	UTSW	8	22938652	missense	probably benign
R1753:Kat6a	UTSW	8	22935797	missense	probably benign	0.09
R2059:Kat6a	UTSW	8	22939305	missense	possibly damaging	0.53
R2155:Kat6a	UTSW	8	22935647	small deletion	probably benign
R2764:Kat6a	UTSW	8	22932178	missense	probably damaging	1.00
R3724:Kat6a	UTSW	8	22862788	missense	probably damaging	0.99
R3825:Kat6a	UTSW	8	22862364	missense	probably damaging	1.00
R4370:Kat6a	UTSW	8	22911929	missense	possibly damaging	0.95
R4371:Kat6a	UTSW	8	22911929	missense	possibly damaging	0.95
R4457:Kat6a	UTSW	8	22932113	critical splice acceptor site	probably null
R4600:Kat6a	UTSW	8	22939311	missense	probably benign	0.18
R4792:Kat6a	UTSW	8	22940576	missense	unknown
R4896:Kat6a	UTSW	8	22938313	missense	probably benign	0.07
R5069:Kat6a	UTSW	8	22903133	missense	probably damaging	1.00
R5192:Kat6a	UTSW	8	22911713	missense	probably damaging	0.99
R5196:Kat6a	UTSW	8	22911713	missense	probably damaging	0.99
R5279:Kat6a	UTSW	8	22939648	small deletion	probably benign
R5331:Kat6a	UTSW	8	22939984	missense	unknown
R5480:Kat6a	UTSW	8	22938307	missense	possibly damaging	0.77
R5659:Kat6a	UTSW	8	22938160	nonsense	probably null
R5759:Kat6a	UTSW	8	22938012	missense	probably benign	0.04
R5787:Kat6a	UTSW	8	22932647	missense	probably damaging	0.99
R5892:Kat6a	UTSW	8	22938289	missense	probably damaging	1.00
R5923:Kat6a	UTSW	8	22939479	missense	probably benign	0.00
R6049:Kat6a	UTSW	8	22939037	missense	possibly damaging	0.53
R6223:Kat6a	UTSW	8	22940426	missense	unknown
R6276:Kat6a	UTSW	8	22939405	missense	possibly damaging	0.96
R6279:Kat6a	UTSW	8	22939612	missense	unknown
R6300:Kat6a	UTSW	8	22939612	missense	unknown
R6307:Kat6a	UTSW	8	22940368	missense	unknown
R6562:Kat6a	UTSW	8	22911787	missense	probably benign	0.04
R6807:Kat6a	UTSW	8	22940368	missense	unknown
R6852:Kat6a	UTSW	8	22938660	missense	probably benign	0.18
R6875:Kat6a	UTSW	8	22932361	missense	probably benign	0.02
R6895:Kat6a	UTSW	8	22935783	missense	possibly damaging	0.88
R6913:Kat6a	UTSW	8	22903199	missense	possibly damaging	0.53
R7047:Kat6a	UTSW	8	22938538	missense	possibly damaging	0.53
R7235:Kat6a	UTSW	8	22914269	missense	possibly damaging	0.94
R7243:Kat6a	UTSW	8	22938775	missense	probably benign	0.00
R7454:Kat6a	UTSW	8	22935772	missense	possibly damaging	0.56
R7618:Kat6a	UTSW	8	22862562	missense	possibly damaging	0.95
R7768:Kat6a	UTSW	8	22903212	missense	probably damaging	1.00
R7980:Kat6a	UTSW	8	22926416	missense	possibly damaging	0.95
R8051:Kat6a	UTSW	8	22910249	missense	probably damaging	0.99
R8408:Kat6a	UTSW	8	22862259	missense	probably damaging	1.00
R8725:Kat6a	UTSW	8	22908277	missense	probably damaging	1.00
R8743:Kat6a	UTSW	8	22939006	missense	possibly damaging	0.85
R8904:Kat6a	UTSW	8	22938808	missense	possibly damaging	0.85
R9014:Kat6a	UTSW	8	22940071	missense	unknown
R9019:Kat6a	UTSW	8	22935738	missense	probably damaging	0.98
R9091:Kat6a	UTSW	8	22930174	missense	probably damaging	0.99
R9142:Kat6a	UTSW	8	22940056	missense	unknown
R9229:Kat6a	UTSW	8	22939971	missense	unknown
R9270:Kat6a	UTSW	8	22930174	missense	probably damaging	0.99
R9367:Kat6a	UTSW	8	22910140	missense	possibly damaging	0.76
R9421:Kat6a	UTSW	8	22908306	missense	probably damaging	1.00
X0050:Kat6a	UTSW	8	22940481	nonsense	probably null
Z1088:Kat6a	UTSW	8	22935501	nonsense	probably null
Z1176:Kat6a	UTSW	8	22910154	missense	probably damaging	1.00
Z1177:Kat6a	UTSW	8	22940166	missense	unknown
Z1190:Kat6a	UTSW	8	22940229	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GCATCAGGATAAGGGATAACGACTC -3'
(R):5'- AAGTTGAGCCACCAGTCTCTG -3'

Sequencing Primer
(F):5'- GGATATACAGAATCCTTCACCATGG -3'
(R):5'- GTCTCTGCCAAGCCCTCAAATG -3'

Posted On

2015-04-02