Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03114:Kat14'

419347

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kat14

Ensembl Gene

ENSMUSG00000027425

Gene Name

lysine acetyltransferase 14

Synonyms

D2Wsu131e, 2510008M08Rik, ATAC2, Csrp2bp, D2Ertd473e

Accession Numbers

Genbank: NM_181417; MGI: 1917264

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03114

Quality Score

Status

Chromosome

Chromosomal Location

144368983-144407676 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 144375965 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000130785 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028911] [ENSMUST00000147747] [ENSMUST00000183618]

AlphaFold

Q8CID0

Predicted Effect

probably null
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

noncoding transcript
Transcript: ENSMUST00000130654

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131836

Predicted Effect

probably null
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

probably benign
Transcript: ENSMUST00000156410

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171261

Predicted Effect

probably benign
Transcript: ENSMUST00000183618

SMART Domains

Protein: ENSMUSP00000139043
Gene: ENSMUSG00000098387

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
low complexity region	27	36	N/A	INTRINSIC

Coding Region Coverage

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930021J03Rik	A	T	19: 29,717,132	S1654T	probably benign	Het
Abca13	T	A	11: 9,528,999	H4282Q	probably benign	Het
Acta2	A	G	19: 34,244,910		probably null	Het
Arl10	A	G	13: 54,575,766		probably benign	Het
Avpr1a	A	G	10: 122,449,718	Y305C	probably damaging	Het
Bmpr2	T	A	1: 59,867,444	N565K	probably damaging	Het
Boc	A	T	16: 44,486,752	S1035R	probably benign	Het
Ccdc7a	T	C	8: 129,026,689	N187S	possibly damaging	Het
Cntn5	C	T	9: 9,748,452	E680K	probably damaging	Het
Copa	T	A	1: 172,119,268	Y1014*	probably null	Het
Csmd3	A	G	15: 47,820,451	S1662P	probably damaging	Het
Cyp2e1	T	C	7: 140,773,129	F360L	possibly damaging	Het
Efnb3	A	T	11: 69,556,802		probably benign	Het
Egf	A	T	3: 129,736,880	L211Q	probably damaging	Het
Eno1	G	A	4: 150,241,126	R56H	probably benign	Het
Fyb2	A	G	4: 104,995,778	T552A	probably damaging	Het
Git2	G	A	5: 114,733,857		probably benign	Het
Gm5538	A	T	3: 59,743,723	I89F	possibly damaging	Het
Gm5771	T	A	6: 41,397,078	C205S	probably damaging	Het
Gtf2ird2	A	G	5: 134,216,910		probably null	Het
Hyal4	A	T	6: 24,755,965	I61L	probably benign	Het
Kif13b	T	C	14: 64,788,448	V1418A	probably benign	Het
Lcn12	T	C	2: 25,493,262	K35E	probably benign	Het
Lyrm7	G	T	11: 54,850,372	N45K	possibly damaging	Het
Micalcl	G	T	7: 112,397,557	G559V	probably damaging	Het
Mtrr	A	T	13: 68,564,322	C648*	probably null	Het
Muc5b	C	A	7: 141,858,819	S1834*	probably null	Het
Mup16	G	A	4: 61,518,013	T101M	probably benign	Het
Myof	A	T	19: 37,903,861	L1148Q	probably damaging	Het
Nags	A	T	11: 102,148,988	I501F	probably damaging	Het
Nbeal1	A	T	1: 60,278,727	Y672F	probably damaging	Het
Ncapg2	A	G	12: 116,452,373		probably benign	Het
Obscn	A	G	11: 59,000,539	S7056P	unknown	Het
Olfr593	T	C	7: 103,212,721	I287T	probably damaging	Het
Pde2a	C	A	7: 101,508,683		probably benign	Het
Piezo2	T	C	18: 63,030,272		probably null	Het
Pkhd1	C	A	1: 20,198,171	D3328Y	probably damaging	Het
Plxdc2	T	C	2: 16,650,124	V178A	probably damaging	Het
Prdx3	T	C	19: 60,873,118		probably benign	Het
Prkce	T	A	17: 86,654,555	D694E	probably damaging	Het
Ptdss1	T	A	13: 66,993,994	Y405*	probably null	Het
Rad54l	A	T	4: 116,098,532	W608R	probably damaging	Het
Rassf6	G	T	5: 90,608,790		probably benign	Het
Sema5a	A	T	15: 32,673,427	I804F	probably damaging	Het
Slc15a2	A	T	16: 36,751,905	I668N	probably damaging	Het
Thsd7b	A	G	1: 130,188,551	E1347G	probably benign	Het
Tmco3	T	C	8: 13,298,205		probably benign	Het
Ttn	T	C	2: 76,721,652	M31214V	probably null	Het
Uck1	G	A	2: 32,258,322	R161C	probably benign	Het
Ugt2b5	T	C	5: 87,128,350	Y355C	probably damaging	Het
Usp48	C	A	4: 137,656,125	T1031K	probably damaging	Het
Vmn1r202	G	A	13: 22,501,470	T259I	probably benign	Het
Vmn1r202	T	A	13: 22,501,330		probably benign	Het
Vmn2r90	T	C	17: 17,733,509	I645T	probably damaging	Het
Vps18	T	C	2: 119,293,651	V353A	possibly damaging	Het
Vwf	C	T	6: 125,599,363	Q469*	probably null	Het

Other mutations in Kat14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00885:Kat14	APN	2	144394255	missense	probably benign	0.01
IGL01361:Kat14	APN	2	144406620	splice site	probably null
IGL01958:Kat14	APN	2	144394365	missense	probably damaging	1.00
IGL02499:Kat14	APN	2	144393831	missense	probably benign	0.45
IGL02625:Kat14	APN	2	144402445	missense	possibly damaging	0.79
IGL02814:Kat14	APN	2	144402463	missense	probably benign
IGL02883:Kat14	APN	2	144393529	missense	probably damaging	1.00
A5278:Kat14	UTSW	2	144393307	nonsense	probably null
R1446:Kat14	UTSW	2	144373718	missense	probably damaging	1.00
R1517:Kat14	UTSW	2	144373791	missense	probably benign	0.00
R1589:Kat14	UTSW	2	144394100	missense	probably benign	0.06
R2071:Kat14	UTSW	2	144389216	missense	probably damaging	1.00
R3911:Kat14	UTSW	2	144404062	missense	probably damaging	1.00
R3951:Kat14	UTSW	2	144407329	utr 3 prime	probably benign
R4167:Kat14	UTSW	2	144394110	missense	probably damaging	1.00
R4624:Kat14	UTSW	2	144404220	intron	probably benign
R4628:Kat14	UTSW	2	144404220	intron	probably benign
R4629:Kat14	UTSW	2	144404220	intron	probably benign
R4944:Kat14	UTSW	2	144375953	missense	probably damaging	0.99
R5401:Kat14	UTSW	2	144389260	missense	possibly damaging	0.77
R5429:Kat14	UTSW	2	144393323	missense	probably benign	0.03
R7165:Kat14	UTSW	2	144393998	missense	probably benign	0.03
R7453:Kat14	UTSW	2	144380734	missense	possibly damaging	0.85
R7738:Kat14	UTSW	2	144394242	missense	probably damaging	1.00
R9130:Kat14	UTSW	2	144373822	missense	probably benign	0.30
R9260:Kat14	UTSW	2	144393521	missense	probably benign	0.02
X0018:Kat14	UTSW	2	144373857	critical splice donor site	probably null

Posted On

2016-08-02