Mutagenetix > Incidental Mutation

Incidental Mutation 'R4629:Kat14'

349006

Institutional Source

Beutler Lab

Gene Symbol

Kat14

Ensembl Gene

ENSMUSG00000027425

Gene Name

lysine acetyltransferase 14

Synonyms

Csrp2bp, 2510008M08Rik, ATAC2, D2Ertd473e, D2Wsu131e

MMRRC Submission

041894-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4629 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

144210952-144249595 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 144246140 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000130785 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028911] [ENSMUST00000147747]

AlphaFold

Q8CID0

Predicted Effect

probably benign
Transcript: ENSMUST00000028911

SMART Domains

Protein: ENSMUSP00000028911
Gene: ENSMUSG00000027425

Domain	Start	End	E-Value	Type
low complexity region	21	41	N/A	INTRINSIC
low complexity region	310	334	N/A	INTRINSIC
Pfam:Acetyltransf_10	640	748	7e-12	PFAM
Pfam:Acetyltransf_7	670	750	5.8e-12	PFAM
Pfam:Acetyltransf_1	675	749	7.3e-11	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000125398
AA Change: N82D

SMART Domains

Protein: ENSMUSP00000129716
Gene: ENSMUSG00000027425
AA Change: N82D

Domain	Start	End	E-Value	Type
Pfam:Acetyltransf_7	20	83	1e-7	PFAM
Pfam:Acetyltransf_1	25	78	3.4e-6	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130654

Predicted Effect

probably benign
Transcript: ENSMUST00000139812

SMART Domains

Protein: ENSMUSP00000128694
Gene: ENSMUSG00000027425

Domain	Start	End	E-Value	Type
Pfam:Acetyltransf_10	2	64	7.1e-10	PFAM
Pfam:Acetyltransf_1	3	65	2.8e-11	PFAM
Pfam:Acetyltransf_7	3	66	3.4e-11	PFAM
Pfam:FR47	7	73	1.2e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000147747

SMART Domains

Protein: ENSMUSP00000130785
Gene: ENSMUSG00000027425

Domain	Start	End	E-Value	Type
low complexity region	99	123	N/A	INTRINSIC
Pfam:Acetyltransf_10	428	537	6.3e-12	PFAM
Pfam:Acetyltransf_7	458	539	5.7e-12	PFAM
Pfam:Acetyltransf_1	464	538	3.1e-12	PFAM
Pfam:FR47	479	544	2.4e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148500

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CSRP2 is a protein containing two LIM domains, which are double zinc finger motifs found in proteins of diverse function. CSRP2 and some related proteins are thought to act as protein adapters, bridging two or more proteins to form a larger protein complex. The protein encoded by this gene binds to one of the LIM domains of CSRP2 and contains an acetyltransferase domain. Although the encoded protein has been detected in the cytoplasm, it is predominantly a nuclear protein. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jun 2011]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality during organogenesis, decreased size, increased apoptosis, and disrupted cell cycling. Mice heterozygous for one targeted allele exhibit corneal opacity. [provided by MGI curators]

Allele List at MGI

All alleles(54) : Targeted, other(1) Gene trapped(53)

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921528I07Rik	T	C	9: 114,108,419 (GRCm39)		noncoding transcript	Het
Abca6	T	C	11: 110,121,375 (GRCm39)		probably null	Het
Adam22	A	G	5: 8,282,663 (GRCm39)	S111P	possibly damaging	Het
Adamts18	C	T	8: 114,499,800 (GRCm39)	W371*	probably null	Het
Akr1c13	G	T	13: 4,247,869 (GRCm39)	V214F	probably damaging	Het
Alg10b	C	T	15: 90,111,948 (GRCm39)	A264V	probably benign	Het
Angpt1	T	A	15: 42,301,796 (GRCm39)	Y404F	probably benign	Het
Apol7c	A	G	15: 77,410,595 (GRCm39)	F117S	probably damaging	Het
Asic5	T	A	3: 81,913,811 (GRCm39)	Y162N	probably damaging	Het
Cacna2d2	A	T	9: 107,404,521 (GRCm39)	E1104V	probably damaging	Het
Cad	G	A	5: 31,227,639 (GRCm39)	V1263I	probably damaging	Het
Cdc20	T	C	4: 118,290,761 (GRCm39)	E413G	probably damaging	Het
Cfap46	A	T	7: 139,260,843 (GRCm39)	L85Q	probably damaging	Het
Cnot6l	A	G	5: 96,225,070 (GRCm39)	V541A	probably benign	Het
Cubn	T	A	2: 13,318,790 (GRCm39)		probably null	Het
Cx3cr1	T	C	9: 119,880,730 (GRCm39)	N224S	probably damaging	Het
Fam98c	T	C	7: 28,854,693 (GRCm39)	T49A	possibly damaging	Het
Fez2	C	T	17: 78,710,183 (GRCm39)	S202N	probably benign	Het
Fras1	A	G	5: 96,924,593 (GRCm39)	N3678S	probably benign	Het
Glyr1	A	G	16: 4,854,907 (GRCm39)	V57A	possibly damaging	Het
Gm5617	T	A	9: 48,407,187 (GRCm39)	L107Q	possibly damaging	Het
Gpnmb	A	G	6: 49,027,994 (GRCm39)	D401G	possibly damaging	Het
Gtpbp6	C	A	5: 110,254,774 (GRCm39)	V100L	possibly damaging	Het
Gucy1a1	A	G	3: 82,004,931 (GRCm39)	V618A	probably damaging	Het
H6pd	A	T	4: 150,080,803 (GRCm39)	M14K	probably benign	Het
Hectd4	A	G	5: 121,435,266 (GRCm39)	M993V	probably benign	Het
Kctd21	A	G	7: 96,996,782 (GRCm39)	D85G	probably damaging	Het
Kera	A	G	10: 97,445,493 (GRCm39)	N284S	probably benign	Het
Krt1	C	T	15: 101,754,622 (GRCm39)	G543S	unknown	Het
Lama1	A	G	17: 68,112,355 (GRCm39)		probably null	Het
Lgr6	T	C	1: 135,032,670 (GRCm39)	Y70C	probably damaging	Het
Lipg	T	A	18: 75,081,107 (GRCm39)	K325*	probably null	Het
Lrrc43	T	C	5: 123,637,583 (GRCm39)	L250P	probably damaging	Het
Lyz1	C	T	10: 117,127,041 (GRCm39)	R65H	probably benign	Het
Marchf10	T	A	11: 105,280,664 (GRCm39)	L540F	probably benign	Het
Maz	G	T	7: 126,624,519 (GRCm39)	H334N	possibly damaging	Het
Myh1	A	G	11: 67,100,119 (GRCm39)	K646R	probably benign	Het
Nf2	A	T	11: 4,798,915 (GRCm39)	V24E	probably damaging	Het
Nup210l	T	C	3: 90,075,182 (GRCm39)	S831P	probably benign	Het
Nup210l	C	T	3: 90,098,181 (GRCm39)	R1378*	probably null	Het
Or13a17	T	A	7: 140,271,291 (GRCm39)	S158T	probably benign	Het
Orc5	G	T	5: 22,753,003 (GRCm39)	F10L	probably benign	Het
Palb2	A	C	7: 121,727,189 (GRCm39)	I227S	possibly damaging	Het
Pate3	A	T	9: 35,557,453 (GRCm39)	C68S	probably damaging	Het
Pcdha12	T	A	18: 37,154,926 (GRCm39)	N548K	probably damaging	Het
Prdm10	C	T	9: 31,248,612 (GRCm39)	Q345*	probably null	Het
Ptx4	A	T	17: 25,341,737 (GRCm39)	N71Y	probably damaging	Het
Rab42	C	T	4: 132,030,548 (GRCm39)	R34Q	probably benign	Het
Rergl	A	G	6: 139,478,850 (GRCm39)	V8A	probably damaging	Het
Rmi1	A	G	13: 58,556,950 (GRCm39)	R400G	probably benign	Het
Rpia	A	G	6: 70,743,578 (GRCm39)	M291T	possibly damaging	Het
Rplp0	G	A	5: 115,699,482 (GRCm39)		probably null	Het
Rrp12	A	T	19: 41,871,955 (GRCm39)	I443N	probably benign	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Het
Saxo1	T	C	4: 86,406,064 (GRCm39)	Y45C	probably damaging	Het
Sec24a	A	T	11: 51,612,640 (GRCm39)		probably null	Het
Setdb2	A	G	14: 59,646,808 (GRCm39)	V585A	probably benign	Het
Sik1	T	C	17: 32,068,581 (GRCm39)	E347G	probably benign	Het
Srbd1	T	C	17: 86,428,100 (GRCm39)	T378A	probably damaging	Het
Tacr1	A	G	6: 82,380,861 (GRCm39)	T91A	probably benign	Het
Tas2r135	T	A	6: 42,383,160 (GRCm39)	M233K	probably benign	Het
Tfg	A	T	16: 56,533,039 (GRCm39)	M40K	probably damaging	Het
Tmem35b	C	T	4: 127,022,796 (GRCm39)	P133S	probably benign	Het
Tmtc2	A	T	10: 105,139,511 (GRCm39)	S672T	probably benign	Het
Trpv3	A	T	11: 73,172,615 (GRCm39)	K253N	probably damaging	Het
Ube2c	A	G	2: 164,614,093 (GRCm39)	N143S	possibly damaging	Het
Unc13a	A	G	8: 72,106,097 (GRCm39)	M669T	possibly damaging	Het
Vmn1r61	T	A	7: 5,614,249 (GRCm39)	I22F	probably benign	Het
Vmn2r26	A	T	6: 124,038,150 (GRCm39)	Q575L	possibly damaging	Het
Vmn2r81	A	T	10: 79,103,276 (GRCm39)	E156D	probably damaging	Het
Vwa3a	T	A	7: 120,392,598 (GRCm39)	N812K	probably benign	Het
Wasl	T	C	6: 24,637,680 (GRCm39)	R71G	probably damaging	Het
Wdfy4	A	T	14: 32,824,515 (GRCm39)	N1301K	probably damaging	Het
Zfp827	G	A	8: 79,787,011 (GRCm39)	R59Q	probably damaging	Het
Zfp87	A	G	13: 74,520,512 (GRCm39)	C189R	probably damaging	Het

Other mutations in Kat14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00885:Kat14	APN	2	144,236,175 (GRCm39)	missense	probably benign	0.01
IGL01361:Kat14	APN	2	144,248,540 (GRCm39)	splice site	probably null
IGL01958:Kat14	APN	2	144,236,285 (GRCm39)	missense	probably damaging	1.00
IGL02499:Kat14	APN	2	144,235,751 (GRCm39)	missense	probably benign	0.45
IGL02625:Kat14	APN	2	144,244,365 (GRCm39)	missense	possibly damaging	0.79
IGL02814:Kat14	APN	2	144,244,383 (GRCm39)	missense	probably benign
IGL02883:Kat14	APN	2	144,235,449 (GRCm39)	missense	probably damaging	1.00
IGL03114:Kat14	APN	2	144,217,885 (GRCm39)	critical splice donor site	probably null
A5278:Kat14	UTSW	2	144,235,227 (GRCm39)	nonsense	probably null
R1446:Kat14	UTSW	2	144,215,638 (GRCm39)	missense	probably damaging	1.00
R1517:Kat14	UTSW	2	144,215,711 (GRCm39)	missense	probably benign	0.00
R1589:Kat14	UTSW	2	144,236,020 (GRCm39)	missense	probably benign	0.06
R2071:Kat14	UTSW	2	144,231,136 (GRCm39)	missense	probably damaging	1.00
R3911:Kat14	UTSW	2	144,245,982 (GRCm39)	missense	probably damaging	1.00
R3951:Kat14	UTSW	2	144,249,249 (GRCm39)	utr 3 prime	probably benign
R4167:Kat14	UTSW	2	144,236,030 (GRCm39)	missense	probably damaging	1.00
R4624:Kat14	UTSW	2	144,246,140 (GRCm39)	intron	probably benign
R4628:Kat14	UTSW	2	144,246,140 (GRCm39)	intron	probably benign
R4944:Kat14	UTSW	2	144,217,873 (GRCm39)	missense	probably damaging	0.99
R5401:Kat14	UTSW	2	144,231,180 (GRCm39)	missense	possibly damaging	0.77
R5429:Kat14	UTSW	2	144,235,243 (GRCm39)	missense	probably benign	0.03
R7165:Kat14	UTSW	2	144,235,918 (GRCm39)	missense	probably benign	0.03
R7453:Kat14	UTSW	2	144,222,654 (GRCm39)	missense	possibly damaging	0.85
R7738:Kat14	UTSW	2	144,236,162 (GRCm39)	missense	probably damaging	1.00
R9130:Kat14	UTSW	2	144,215,742 (GRCm39)	missense	probably benign	0.30
R9260:Kat14	UTSW	2	144,235,441 (GRCm39)	missense	probably benign	0.02
R9450:Kat14	UTSW	2	144,242,739 (GRCm39)	missense	possibly damaging	0.94
R9457:Kat14	UTSW	2	144,215,702 (GRCm39)	missense	probably benign	0.02
R9480:Kat14	UTSW	2	144,215,745 (GRCm39)	missense	probably damaging	1.00
R9502:Kat14	UTSW	2	144,235,527 (GRCm39)	missense	probably damaging	1.00
X0018:Kat14	UTSW	2	144,215,777 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GCAGTATCCAGACTTCAGTGTTG -3'
(R):5'- ATGATTCATGCCTGCATAGGG -3'

Sequencing Primer
(F):5'- ATCCAGACTTCAGTGTTGTAGTC -3'
(R):5'- CCTGCATAGGGGCTTCTCTGAAG -3'

Posted On

2015-10-08