Mutagenetix > Incidental Mutation

Incidental Mutation 'R9421:Kat6a'

712339

Institutional Source

Beutler Lab

Gene Symbol

Kat6a

Ensembl Gene

ENSMUSG00000031540

Gene Name

K(lysine) acetyltransferase 6A

Synonyms

Zfp220, Myst3, MOZ, 9930021N24Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9421 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

23349551-23433275 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 23398322 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 297 (L297F)

Ref Sequence

ENSEMBL: ENSMUSP00000038181 (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: L297F

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

SMART Domains

Protein: ENSMUSP00000038181
Gene: ENSMUSG00000031540
AA Change: L297F

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: L297F

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

SMART Domains

Protein: ENSMUSP00000106324
Gene: ENSMUSG00000031540
AA Change: L297F

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

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.] 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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930438A08Rik	T	A	11: 58,177,451 (GRCm39)	N53K		Het
Alpk1	C	T	3: 127,467,069 (GRCm39)	R1070Q	probably damaging	Het
AU018091	T	C	7: 3,208,085 (GRCm39)	I541V	probably benign	Het
B3galt2	A	T	1: 143,522,364 (GRCm39)	R167*	probably null	Het
Bltp3a	A	T	17: 28,095,660 (GRCm39)	D23V	probably damaging	Het
Cabin1	A	G	10: 75,493,658 (GRCm39)	L1660S	probably damaging	Het
Card11	A	T	5: 140,869,462 (GRCm39)	I778N	probably damaging	Het
Col15a1	G	C	4: 47,288,200 (GRCm39)		probably benign	Het
Cpne3	A	T	4: 19,536,561 (GRCm39)	M233K	probably benign	Het
Cxcl13	T	A	5: 96,107,789 (GRCm39)	W82R	probably damaging	Het
Dock10	T	A	1: 80,501,509 (GRCm39)	Y1848F	probably damaging	Het
Ednra	G	A	8: 78,391,681 (GRCm39)	T403M	probably damaging	Het
Fbl	A	G	7: 27,875,439 (GRCm39)	I186V	probably benign	Het
Fktn	G	A	4: 53,734,854 (GRCm39)	G125D	probably benign	Het
Gorasp2	T	C	2: 70,509,867 (GRCm39)	V176A	probably damaging	Het
Gpr151	T	C	18: 42,712,220 (GRCm39)	I153V	probably benign	Het
Kcnq4	T	A	4: 120,573,868 (GRCm39)	I198F	possibly damaging	Het
Kdm7a	A	G	6: 39,129,763 (GRCm39)	V471A	possibly damaging	Het
Ltn1	A	T	16: 87,215,375 (GRCm39)	M420K	possibly damaging	Het
Lypd6b	A	G	2: 49,832,552 (GRCm39)	E39G	probably benign	Het
Man2b2	T	C	5: 36,978,271 (GRCm39)	T338A	probably benign	Het
Mcm7	T	C	5: 138,165,477 (GRCm39)	T476A	possibly damaging	Het
Or1e30	T	A	11: 73,677,927 (GRCm39)	H54Q	probably benign	Het
Or2y10	G	T	11: 49,455,201 (GRCm39)	G151V	probably benign	Het
Or51h5	T	A	7: 102,577,711 (GRCm39)	I292K	probably damaging	Het
Pdzd2	A	T	15: 12,375,114 (GRCm39)	F1674I		Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Pilrb1	A	G	5: 137,853,296 (GRCm39)	V169A	probably benign	Het
Pramel39-ps	G	T	5: 94,451,001 (GRCm39)	P375H	probably damaging	Het
Rsf1	GC	GCGGCGGCGAC	7: 97,229,141 (GRCm39)		probably benign	Het
Slc49a4	C	A	16: 35,518,372 (GRCm39)	W447L		Het
Slc4a11	C	T	2: 130,533,664 (GRCm39)	A100T	probably damaging	Het
Stxbp2	T	C	8: 3,682,264 (GRCm39)	W27R		Het
Tle6	G	A	10: 81,429,868 (GRCm39)	T410M		Het
Ttyh2	C	G	11: 114,587,633 (GRCm39)	Y211*	probably null	Het
Ubap2l	T	A	3: 89,955,108 (GRCm39)	Q20L	possibly damaging	Het
Usp19	T	C	9: 108,376,792 (GRCm39)	Y1122H	probably damaging	Het
Zcchc2	G	T	1: 105,950,987 (GRCm39)	V574L	probably benign	Het
Zfp532	G	A	18: 65,757,308 (GRCm39)	V414I	probably benign	Het
Zfp616	A	C	11: 73,974,331 (GRCm39)	N291T	possibly damaging	Het
Zfp820	A	T	17: 22,038,336 (GRCm39)	C331S	probably benign	Het
Zfp94	G	A	7: 24,002,978 (GRCm39)	R155*	probably null	Het

Other mutations in Kat6a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00921:Kat6a	APN	8	23,430,279 (GRCm39)	missense	unknown
IGL01093:Kat6a	APN	8	23,429,337 (GRCm39)	missense	possibly damaging	0.85
IGL01364:Kat6a	APN	8	23,397,716 (GRCm39)	missense	probably damaging	1.00
IGL01868:Kat6a	APN	8	23,416,471 (GRCm39)	missense	probably damaging	1.00
IGL02477:Kat6a	APN	8	23,419,316 (GRCm39)	missense	probably damaging	1.00
IGL02792:Kat6a	APN	8	23,428,316 (GRCm39)	missense	probably damaging	0.98
IGL03243:Kat6a	APN	8	23,400,238 (GRCm39)	missense	possibly damaging	0.77
Anning	UTSW	8	23,422,129 (GRCm39)	critical splice acceptor site	probably null
Jackal	UTSW	8	23,420,190 (GRCm39)	missense	probably damaging	0.99
lobo	UTSW	8	23,400,265 (GRCm39)	missense	probably damaging	0.99
lord	UTSW	8	23,352,380 (GRCm39)	missense	probably damaging	1.00
master	UTSW	8	23,352,804 (GRCm39)	missense	probably damaging	0.99
R0018:Kat6a	UTSW	8	23,419,289 (GRCm39)	missense	possibly damaging	0.74
R0018:Kat6a	UTSW	8	23,419,289 (GRCm39)	missense	possibly damaging	0.74
R0284:Kat6a	UTSW	8	23,429,819 (GRCm39)	missense	unknown
R0636:Kat6a	UTSW	8	23,429,339 (GRCm39)	missense	possibly damaging	0.73
R0883:Kat6a	UTSW	8	23,352,230 (GRCm39)	missense	probably damaging	1.00
R1457:Kat6a	UTSW	8	23,428,668 (GRCm39)	missense	probably benign
R1753:Kat6a	UTSW	8	23,425,813 (GRCm39)	missense	probably benign	0.09
R2059:Kat6a	UTSW	8	23,429,321 (GRCm39)	missense	possibly damaging	0.53
R2155:Kat6a	UTSW	8	23,425,663 (GRCm39)	small deletion	probably benign
R2764:Kat6a	UTSW	8	23,422,194 (GRCm39)	missense	probably damaging	1.00
R3724:Kat6a	UTSW	8	23,352,804 (GRCm39)	missense	probably damaging	0.99
R3824:Kat6a	UTSW	8	23,352,380 (GRCm39)	missense	probably damaging	1.00
R3825:Kat6a	UTSW	8	23,352,380 (GRCm39)	missense	probably damaging	1.00
R4370:Kat6a	UTSW	8	23,401,945 (GRCm39)	missense	possibly damaging	0.95
R4371:Kat6a	UTSW	8	23,401,945 (GRCm39)	missense	possibly damaging	0.95
R4457:Kat6a	UTSW	8	23,422,129 (GRCm39)	critical splice acceptor site	probably null
R4600:Kat6a	UTSW	8	23,429,327 (GRCm39)	missense	probably benign	0.18
R4792:Kat6a	UTSW	8	23,430,592 (GRCm39)	missense	unknown
R4896:Kat6a	UTSW	8	23,428,329 (GRCm39)	missense	probably benign	0.07
R5069:Kat6a	UTSW	8	23,393,149 (GRCm39)	missense	probably damaging	1.00
R5192:Kat6a	UTSW	8	23,401,729 (GRCm39)	missense	probably damaging	0.99
R5196:Kat6a	UTSW	8	23,401,729 (GRCm39)	missense	probably damaging	0.99
R5279:Kat6a	UTSW	8	23,429,664 (GRCm39)	small deletion	probably benign
R5331:Kat6a	UTSW	8	23,430,000 (GRCm39)	missense	unknown
R5480:Kat6a	UTSW	8	23,428,323 (GRCm39)	missense	possibly damaging	0.77
R5659:Kat6a	UTSW	8	23,428,176 (GRCm39)	nonsense	probably null
R5759:Kat6a	UTSW	8	23,428,028 (GRCm39)	missense	probably benign	0.04
R5787:Kat6a	UTSW	8	23,422,663 (GRCm39)	missense	probably damaging	0.99
R5892:Kat6a	UTSW	8	23,428,305 (GRCm39)	missense	probably damaging	1.00
R5923:Kat6a	UTSW	8	23,429,495 (GRCm39)	missense	probably benign	0.00
R6049:Kat6a	UTSW	8	23,429,053 (GRCm39)	missense	possibly damaging	0.53
R6223:Kat6a	UTSW	8	23,430,442 (GRCm39)	missense	unknown
R6276:Kat6a	UTSW	8	23,429,421 (GRCm39)	missense	possibly damaging	0.96
R6279:Kat6a	UTSW	8	23,429,628 (GRCm39)	missense	unknown
R6300:Kat6a	UTSW	8	23,429,628 (GRCm39)	missense	unknown
R6307:Kat6a	UTSW	8	23,430,384 (GRCm39)	missense	unknown
R6562:Kat6a	UTSW	8	23,401,803 (GRCm39)	missense	probably benign	0.04
R6807:Kat6a	UTSW	8	23,430,384 (GRCm39)	missense	unknown
R6852:Kat6a	UTSW	8	23,428,676 (GRCm39)	missense	probably benign	0.18
R6875:Kat6a	UTSW	8	23,422,377 (GRCm39)	missense	probably benign	0.02
R6895:Kat6a	UTSW	8	23,425,799 (GRCm39)	missense	possibly damaging	0.88
R6913:Kat6a	UTSW	8	23,393,215 (GRCm39)	missense	possibly damaging	0.53
R7047:Kat6a	UTSW	8	23,428,554 (GRCm39)	missense	possibly damaging	0.53
R7235:Kat6a	UTSW	8	23,404,285 (GRCm39)	missense	possibly damaging	0.94
R7243:Kat6a	UTSW	8	23,428,791 (GRCm39)	missense	probably benign	0.00
R7454:Kat6a	UTSW	8	23,425,788 (GRCm39)	missense	possibly damaging	0.56
R7618:Kat6a	UTSW	8	23,352,578 (GRCm39)	missense	possibly damaging	0.95
R7768:Kat6a	UTSW	8	23,393,228 (GRCm39)	missense	probably damaging	1.00
R7980:Kat6a	UTSW	8	23,416,432 (GRCm39)	missense	possibly damaging	0.95
R8051:Kat6a	UTSW	8	23,400,265 (GRCm39)	missense	probably damaging	0.99
R8408:Kat6a	UTSW	8	23,352,275 (GRCm39)	missense	probably damaging	1.00
R8725:Kat6a	UTSW	8	23,398,293 (GRCm39)	missense	probably damaging	1.00
R8743:Kat6a	UTSW	8	23,429,022 (GRCm39)	missense	possibly damaging	0.85
R8904:Kat6a	UTSW	8	23,428,824 (GRCm39)	missense	possibly damaging	0.85
R9014:Kat6a	UTSW	8	23,430,087 (GRCm39)	missense	unknown
R9019:Kat6a	UTSW	8	23,425,754 (GRCm39)	missense	probably damaging	0.98
R9091:Kat6a	UTSW	8	23,420,190 (GRCm39)	missense	probably damaging	0.99
R9142:Kat6a	UTSW	8	23,430,072 (GRCm39)	missense	unknown
R9229:Kat6a	UTSW	8	23,429,987 (GRCm39)	missense	unknown
R9270:Kat6a	UTSW	8	23,420,190 (GRCm39)	missense	probably damaging	0.99
R9367:Kat6a	UTSW	8	23,400,156 (GRCm39)	missense	possibly damaging	0.76
X0050:Kat6a	UTSW	8	23,430,497 (GRCm39)	nonsense	probably null
Z1088:Kat6a	UTSW	8	23,425,517 (GRCm39)	nonsense	probably null
Z1176:Kat6a	UTSW	8	23,400,170 (GRCm39)	missense	probably damaging	1.00
Z1177:Kat6a	UTSW	8	23,430,182 (GRCm39)	missense	unknown
Z1190:Kat6a	UTSW	8	23,430,245 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CAGACCACGGTTAACTTTTACCTG -3'
(R):5'- CAGTGCAGTGCTGACAATAAATAC -3'

Sequencing Primer
(F):5'- ACCTGTAGTTCTTCTCCAAAGATTTC -3'
(R):5'- CAGTGCTGACAATAAATACAAACATG -3'

Posted On

2022-05-16