Mutagenetix > Incidental Mutations

Incidental Mutation 'R4628:Kat14'

348929

Institutional Source

Beutler Lab

Gene Symbol

Kat14

Ensembl Gene

ENSMUSG00000027425

Gene Name

lysine acetyltransferase 14

Synonyms

D2Wsu131e, 2510008M08Rik, ATAC2, Csrp2bp, D2Ertd473e

MMRRC Submission

041893-MU

Accession Numbers

Genbank: NM_181417; MGI: 1917264

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4628 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

144368983-144407676 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 144404220 bp (GRCm38)

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: 95.3%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410131K14Rik	G	C	5: 118,259,414	A154P	probably damaging	Het
Abca7	G	T	10: 80,015,188		probably null	Het
Abcb4	A	G	5: 8,907,399	D176G	probably benign	Het
Adamts18	C	T	8: 113,773,168	W371*	probably null	Het
AF366264	T	A	8: 13,836,625	R489W	probably damaging	Het
Akr1c13	G	T	13: 4,197,870	V214F	probably damaging	Het
Alkbh2	C	T	5: 114,124,226	E148K	probably damaging	Het
Ankrd12	T	C	17: 65,985,994	T815A	probably benign	Het
Arid3a	T	C	10: 79,931,158	S89P	possibly damaging	Het
Ass1	A	T	2: 31,480,988	D63V	probably damaging	Het
Atxn3	T	A	12: 101,923,078		probably benign	Het
Bcap29	C	T	12: 31,626,807	S88N	probably benign	Het
Bsn	G	T	9: 108,113,235	P1773T	probably damaging	Het
Ccdc141	A	G	2: 77,059,680	S423P	probably benign	Het
Cfap46	A	T	7: 139,680,927	L85Q	probably damaging	Het
Chd8	T	C	14: 52,206,915	R438G	probably benign	Het
Chd9	T	A	8: 90,983,463	M289K	probably benign	Het
Col14a1	T	A	15: 55,449,833	Y26*	probably null	Het
Colec10	A	G	15: 54,459,731	T117A	possibly damaging	Het
Colq	C	A	14: 31,544,022	G178V	probably damaging	Het
Defb3	A	T	8: 19,295,140	R37S	probably benign	Het
Duox1	A	G	2: 122,346,252	Y1418C	probably damaging	Het
Engase	C	T	11: 118,484,905	S33F	probably damaging	Het
Erich3	A	T	3: 154,763,687	T1259S	probably damaging	Het
Fam98c	T	C	7: 29,155,268	T49A	possibly damaging	Het
Fhod3	T	A	18: 25,120,129	F1379I	possibly damaging	Het
Fndc3b	T	C	3: 27,556,128	I86V	probably benign	Het
Gm1123	A	G	9: 99,014,236	V197A	probably damaging	Het
Gm4847	A	T	1: 166,630,395	V463E	probably damaging	Het
Gm9772	T	C	17: 22,007,207	K32R	probably damaging	Het
Gm9804	T	C	12: 49,401,757	S161P	unknown	Het
Gpr162	C	T	6: 124,861,442	D82N	probably benign	Het
Grid2ip	T	C	5: 143,382,875	V650A	probably damaging	Het
Hs1bp3	T	C	12: 8,336,357	V253A	probably benign	Het
Hsd3b6	T	G	3: 98,806,579	K135Q	possibly damaging	Het
Igfn1	T	C	1: 135,959,730	D2532G	possibly damaging	Het
Iqgap2	A	G	13: 95,763,329	Y74H	probably benign	Het
Itga2	A	G	13: 114,877,693	V233A	probably benign	Het
Kctd21	A	G	7: 97,347,575	D85G	probably damaging	Het
Kera	A	G	10: 97,609,631	N284S	probably benign	Het
Krt1	C	T	15: 101,846,187	G543S	unknown	Het
Lcmt1	T	A	7: 123,410,812	C183*	probably null	Het
Lcn5	A	G	2: 25,658,063	E28G	possibly damaging	Het
Leo1	A	T	9: 75,445,697	D174V	probably damaging	Het
Llgl1	A	T	11: 60,709,985	T636S	probably damaging	Het
Lrrc8e	T	A	8: 4,233,981	C69S	probably damaging	Het
Maml3	A	T	3: 51,796,470		probably benign	Het
Maz	G	T	7: 127,025,347	H334N	possibly damaging	Het
Mcm6	T	C	1: 128,351,548	D167G	probably benign	Het
Mrpl24	A	C	3: 87,922,129		probably null	Het
Myo18a	G	A	11: 77,824,136	V834M	probably damaging	Het
Neb	T	A	2: 52,308,350	R461*	probably null	Het
Notch4	C	A	17: 34,570,185	T486N	probably damaging	Het
Nphp3	A	G	9: 104,003,058	E93G	probably damaging	Het
Nup188	A	G	2: 30,329,346	Y858C	probably damaging	Het
Olfr339	T	A	2: 36,421,857	L153*	probably null	Het
Olfr45	T	A	7: 140,691,378	S158T	probably benign	Het
Olfr61	C	T	7: 140,638,384	R228C	probably benign	Het
Otud4	T	A	8: 79,639,968	D21E	possibly damaging	Het
Ovgp1	T	A	3: 105,980,323		probably null	Het
Pdia3	A	T	2: 121,414,139	N11I	possibly damaging	Het
Pex5	T	C	6: 124,403,120	D286G	possibly damaging	Het
Pias3	T	C	3: 96,699,820	I133T	probably damaging	Het
Postn	A	G	3: 54,372,157	D352G	probably damaging	Het
Prl7c1	T	C	13: 27,778,082	R81G	probably benign	Het
Rmi1	A	G	13: 58,409,136	R400G	probably benign	Het
Rtraf	T	A	14: 19,817,087	N116I	probably benign	Het
Slc6a12	T	A	6: 121,351,992	C50*	probably null	Het
Srcin1	T	A	11: 97,548,926	H126L	probably benign	Het
Tmtc2	A	T	10: 105,303,650	S672T	probably benign	Het
Top2b	T	G	14: 16,409,189	I777M	probably damaging	Het
Ube2c	A	G	2: 164,772,173	N143S	possibly damaging	Het
Uroc1	A	T	6: 90,355,328	I556F	probably damaging	Het
Vmn1r124	T	A	7: 21,260,377	K81*	probably null	Het
Vmn1r57	T	A	7: 5,220,973	C166S	probably damaging	Het
Vmn2r114	ATTT	ATT	17: 23,290,932		probably null	Het
Vmn2r68	A	G	7: 85,234,465	V144A	probably benign	Het
Vmn2r85	C	T	10: 130,425,366	M367I	probably benign	Het
Vwa3a	T	A	7: 120,793,375	N812K	probably benign	Het
Wdfy4	A	T	14: 33,102,558	N1301K	probably damaging	Het
Zfhx4	G	A	3: 5,403,476	R2898H	probably damaging	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
IGL03114:Kat14	APN	2	144375965	critical splice donor site	probably null
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
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
R9450:Kat14	UTSW	2	144400819	missense	possibly damaging	0.94
R9457:Kat14	UTSW	2	144373782	missense	probably benign	0.02
X0018:Kat14	UTSW	2	144373857	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- CTGTCTGAGTGTCTGCAGTATC -3'
(R):5'- GCATAGGGGCTTCTCTGAAG -3'

Sequencing Primer
(F):5'- TGCAGTATCCAGACTTCAGTG -3'
(R):5'- GACTGGGAAGAATGGCTT -3'

Posted On

2015-10-08