Mutagenetix > Incidental Mutation

Incidental Mutation 'R4628:Kat14'

348929

Institutional Source

Beutler Lab

Gene Symbol

Kat14

Ensembl Gene

ENSMUSG00000027425

Gene Name

lysine acetyltransferase 14

Synonyms

Csrp2bp, 2510008M08Rik, ATAC2, D2Ertd473e, D2Wsu131e

MMRRC Submission

041893-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4628 (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: 95.3%

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
Abca7	G	T	10: 79,851,022 (GRCm39)		probably null	Het
Abcb4	A	G	5: 8,957,399 (GRCm39)	D176G	probably benign	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
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Ankrd12	T	C	17: 66,292,989 (GRCm39)	T815A	probably benign	Het
Arid3a	T	C	10: 79,766,992 (GRCm39)	S89P	possibly damaging	Het
Ass1	A	T	2: 31,371,000 (GRCm39)	D63V	probably damaging	Het
Atxn3	T	A	12: 101,889,337 (GRCm39)		probably benign	Het
Bcap29	C	T	12: 31,676,806 (GRCm39)	S88N	probably benign	Het
Bsn	G	T	9: 107,990,434 (GRCm39)	P1773T	probably damaging	Het
Ccdc141	A	G	2: 76,890,024 (GRCm39)	S423P	probably benign	Het
Cfap46	A	T	7: 139,260,843 (GRCm39)	L85Q	probably damaging	Het
Chd8	T	C	14: 52,444,372 (GRCm39)	R438G	probably benign	Het
Chd9	T	A	8: 91,710,091 (GRCm39)	M289K	probably benign	Het
Col14a1	T	A	15: 55,313,229 (GRCm39)	Y26*	probably null	Het
Colec10	A	G	15: 54,323,127 (GRCm39)	T117A	possibly damaging	Het
Colq	C	A	14: 31,265,979 (GRCm39)	G178V	probably damaging	Het
Defb3	A	T	8: 19,345,156 (GRCm39)	R37S	probably benign	Het
Duox1	A	G	2: 122,176,733 (GRCm39)	Y1418C	probably damaging	Het
Engase	C	T	11: 118,375,731 (GRCm39)	S33F	probably damaging	Het
Erich3	A	T	3: 154,469,324 (GRCm39)	T1259S	probably damaging	Het
Fam98c	T	C	7: 28,854,693 (GRCm39)	T49A	possibly damaging	Het
Fhod3	T	A	18: 25,253,186 (GRCm39)	F1379I	possibly damaging	Het
Fndc3b	T	C	3: 27,610,277 (GRCm39)	I86V	probably benign	Het
Gm1123	A	G	9: 98,896,289 (GRCm39)	V197A	probably damaging	Het
Gm4847	A	T	1: 166,457,964 (GRCm39)	V463E	probably damaging	Het
Gm9772	T	C	17: 22,226,188 (GRCm39)	K32R	probably damaging	Het
Gm9804	T	C	12: 49,448,540 (GRCm39)	S161P	unknown	Het
Gpr162	C	T	6: 124,838,405 (GRCm39)	D82N	probably benign	Het
Grid2ip	T	C	5: 143,368,630 (GRCm39)	V650A	probably damaging	Het
Hs1bp3	T	C	12: 8,386,357 (GRCm39)	V253A	probably benign	Het
Hsd3b6	T	G	3: 98,713,895 (GRCm39)	K135Q	possibly damaging	Het
Igfn1	T	C	1: 135,887,468 (GRCm39)	D2532G	possibly damaging	Het
Iqgap2	A	G	13: 95,899,837 (GRCm39)	Y74H	probably benign	Het
Itga2	A	G	13: 115,014,229 (GRCm39)	V233A	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
Lcmt1	T	A	7: 123,010,035 (GRCm39)	C183*	probably null	Het
Lcn5	A	G	2: 25,548,075 (GRCm39)	E28G	possibly damaging	Het
Leo1	A	T	9: 75,352,979 (GRCm39)	D174V	probably damaging	Het
Llgl1	A	T	11: 60,600,811 (GRCm39)	T636S	probably damaging	Het
Lrrc8e	T	A	8: 4,283,981 (GRCm39)	C69S	probably damaging	Het
Maml3	A	T	3: 51,703,891 (GRCm39)		probably benign	Het
Maz	G	T	7: 126,624,519 (GRCm39)	H334N	possibly damaging	Het
Mcm6	T	C	1: 128,279,285 (GRCm39)	D167G	probably benign	Het
Mrpl24	A	C	3: 87,829,436 (GRCm39)		probably null	Het
Myo18a	G	A	11: 77,714,962 (GRCm39)	V834M	probably damaging	Het
Neb	T	A	2: 52,198,362 (GRCm39)	R461*	probably null	Het
Notch4	C	A	17: 34,789,159 (GRCm39)	T486N	probably damaging	Het
Nphp3	A	G	9: 103,880,257 (GRCm39)	E93G	probably damaging	Het
Nup188	A	G	2: 30,219,358 (GRCm39)	Y858C	probably damaging	Het
Or13a17	T	A	7: 140,271,291 (GRCm39)	S158T	probably benign	Het
Or13a28	C	T	7: 140,218,297 (GRCm39)	R228C	probably benign	Het
Or1j11	T	A	2: 36,311,869 (GRCm39)	L153*	probably null	Het
Otud4	T	A	8: 80,366,597 (GRCm39)	D21E	possibly damaging	Het
Ovgp1	T	A	3: 105,887,639 (GRCm39)		probably null	Het
Pdia3	A	T	2: 121,244,620 (GRCm39)	N11I	possibly damaging	Het
Pex5	T	C	6: 124,380,079 (GRCm39)	D286G	possibly damaging	Het
Pias3	T	C	3: 96,607,136 (GRCm39)	I133T	probably damaging	Het
Postn	A	G	3: 54,279,578 (GRCm39)	D352G	probably damaging	Het
Prl7c1	T	C	13: 27,962,065 (GRCm39)	R81G	probably benign	Het
Rmi1	A	G	13: 58,556,950 (GRCm39)	R400G	probably benign	Het
Rtraf	T	A	14: 19,867,155 (GRCm39)	N116I	probably benign	Het
Semp2l2a	T	A	8: 13,886,625 (GRCm39)	R489W	probably damaging	Het
Slc6a12	T	A	6: 121,328,951 (GRCm39)	C50*	probably null	Het
Spring1	G	C	5: 118,397,479 (GRCm39)	A154P	probably damaging	Het
Srcin1	T	A	11: 97,439,752 (GRCm39)	H126L	probably benign	Het
Tmtc2	A	T	10: 105,139,511 (GRCm39)	S672T	probably benign	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Ube2c	A	G	2: 164,614,093 (GRCm39)	N143S	possibly damaging	Het
Uroc1	A	T	6: 90,332,310 (GRCm39)	I556F	probably damaging	Het
Vmn1r124	T	A	7: 20,994,302 (GRCm39)	K81*	probably null	Het
Vmn1r57	T	A	7: 5,223,972 (GRCm39)	C166S	probably damaging	Het
Vmn2r114	ATTT	ATT	17: 23,509,906 (GRCm39)		probably null	Het
Vmn2r68	A	G	7: 84,883,673 (GRCm39)	V144A	probably benign	Het
Vmn2r85	C	T	10: 130,261,235 (GRCm39)	M367I	probably benign	Het
Vwa3a	T	A	7: 120,392,598 (GRCm39)	N812K	probably benign	Het
Wdfy4	A	T	14: 32,824,515 (GRCm39)	N1301K	probably damaging	Het
Zfhx4	G	A	3: 5,468,536 (GRCm39)	R2898H	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
R4629: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'- CTGTCTGAGTGTCTGCAGTATC -3'
(R):5'- GCATAGGGGCTTCTCTGAAG -3'

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

Posted On

2015-10-08