Mutagenetix > Incidental Mutations

Incidental Mutation 'R7165:Kat14'

557850

Institutional Source

Beutler Lab

Gene Symbol

Kat14

Ensembl Gene

ENSMUSG00000027425

Gene Name

lysine acetyltransferase 14

Synonyms

D2Wsu131e, 2510008M08Rik, ATAC2, Csrp2bp, D2Ertd473e

MMRRC Submission

Accession Numbers

Genbank: NM_181417; MGI: 1917264

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7165 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

144368983-144407676 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 144393998 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 428 (T428A)

Ref Sequence

ENSEMBL: ENSMUSP00000028911 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000028911
AA Change: T428A

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000028911
Gene: ENSMUSG00000027425
AA Change: T428A

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

probably benign
Transcript: ENSMUST00000147747
AA Change: T217A

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000130785
Gene: ENSMUSG00000027425
AA Change: T217A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

98% (79/81)

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
Acoxl	C	A	2: 128,123,108	A624E	probably benign	Het
Adnp	A	G	2: 168,182,367	S1003P	probably benign	Het
Akap8l	T	C	17: 32,338,412	D75G	probably damaging	Het
Ap4e1	A	T	2: 127,063,318	T970S	possibly damaging	Het
Asb3	T	A	11: 31,029,029	N106K	probably damaging	Het
Atp1a3	T	C	7: 24,978,965	I988V	probably benign	Het
Camta1	A	G	4: 151,084,700	L198S	possibly damaging	Het
Ccdc77	A	G	6: 120,350,232	L84P	probably damaging	Het
Ccne1	C	T	7: 38,099,301	A298T	probably damaging	Het
Cdc42bpb	T	A	12: 111,321,517	E532V	probably damaging	Het
Clasp2	G	A	9: 113,786,399		probably null	Het
Cntnap5b	C	A	1: 100,076,162	T289N	possibly damaging	Het
Dcun1d4	A	G	5: 73,491,195		probably null	Het
Dnah14	A	G	1: 181,704,535	T2296A	probably benign	Het
Dnaja4	A	T	9: 54,709,232	Q173L	probably damaging	Het
Dync2h1	G	A	9: 7,050,479	A3190V	probably benign	Het
Frrs1	T	A	3: 116,878,271	I6N	probably benign	Het
Fscn1	T	C	5: 142,972,046	V477A	probably benign	Het
Fsip2	G	A	2: 82,981,197	G2620E	possibly damaging	Het
Glp1r	C	T	17: 30,909,323	A92V	probably benign	Het
Gm21671	AACT	A	5: 25,950,851		probably benign	Het
Gm9573	A	G	17: 35,621,978	S439P	unknown	Het
Gpr137b	A	T	13: 13,367,620	M204K	probably damaging	Het
Gstm1	A	G	3: 108,016,377	V104A	probably benign	Het
Gtf2e1	A	T	16: 37,535,866	N101K	probably damaging	Het
Igsf9b	T	C	9: 27,334,240	F1168L	probably benign	Het
Itpr2	A	T	6: 146,294,091	V1629E	probably damaging	Het
Kif21b	T	C	1: 136,149,448	Y403H	probably damaging	Het
Lpcat1	G	C	13: 73,514,530	A533P	probably benign	Het
Lrp2	A	T	2: 69,506,573	I1285N	probably damaging	Het
Mboat1	A	T	13: 30,224,415	Y187F	probably damaging	Het
Mkx	T	C	18: 7,002,525	N7S	probably damaging	Het
Mrps27	A	T	13: 99,414,799	T357S	possibly damaging	Het
Naa35	A	G	13: 59,586,183	D9G	probably benign	Het
Ncoa4	T	A	14: 32,175,983	N253K	probably damaging	Het
Neb	A	G	2: 52,270,306	Y2232H	probably damaging	Het
Nlk	G	A	11: 78,590,967	Q223*	probably null	Het
Npas2	T	A	1: 39,292,717	I71N	possibly damaging	Het
Nup107	T	A	10: 117,773,362	Q364L	probably damaging	Het
Olfr146	T	A	9: 39,023,270		probably benign	Het
Otof	C	T	5: 30,375,620	G1593S	probably damaging	Het
Panx3	G	T	9: 37,664,085	H160Q	probably damaging	Het
Pappa	T	A	4: 65,261,873	H990Q	probably damaging	Het
Pax4	G	A	6: 28,446,137	P119L	probably damaging	Het
Pcdhb20	T	A	18: 37,505,070	D216E	probably damaging	Het
Pcdhgb8	T	A	18: 37,763,178	S434T	possibly damaging	Het
Pf4	T	C	5: 90,772,589	V3A	probably benign	Het
Phf24	T	C	4: 42,938,325	S229P	probably benign	Het
Plcd3	A	G	11: 103,079,613	F200S	probably damaging	Het
Ppp1r16a	A	G	15: 76,690,904	H4R	probably damaging	Het
Pramef20	A	G	4: 144,372,819	C459R	probably damaging	Het
Prdm10	A	G	9: 31,316,442		probably null	Het
Prim2	A	G	1: 33,628,393		probably null	Het
Prkg1	T	A	19: 30,585,199	H550L	probably damaging	Het
Prrc2c	G	T	1: 162,673,517	T2809N	possibly damaging	Het
Ptx3	A	G	3: 66,224,970	E304G	probably benign	Het
Ralgps2	A	G	1: 156,828,248	F369L	probably benign	Het
Rasgrp1	G	A	2: 117,338,404	T31I	probably benign	Het
Rbsn	A	T	6: 92,191,334	M373K	probably benign	Het
Rnf168	C	G	16: 32,282,361	R120G	probably benign	Het
Rp1	A	G	1: 4,349,917	I324T	probably damaging	Het
Samd11	T	C	4: 156,252,290	S31G	probably benign	Het
Sart3	A	T	5: 113,745,995	L652Q	probably benign	Het
Scrn2	A	G	11: 97,033,808	E421G	probably benign	Het
Sik2	A	T	9: 50,917,097	L215Q	probably damaging	Het
Stard9	A	T	2: 120,704,158	K3632M	probably damaging	Het
Swt1	A	T	1: 151,388,677	D695E	probably damaging	Het
Tead3	T	A	17: 28,333,254	M357L	probably benign	Het
Tgfbi	A	T	13: 56,628,016	T292S	probably damaging	Het
Tmc7	T	C	7: 118,555,934	H247R	probably benign	Het
Trmt10b	T	A	4: 45,308,549	D236E	probably damaging	Het
Tshz1	C	A	18: 84,015,927	V119L	probably damaging	Het
Ttn	A	C	2: 76,827,914	V12374G	unknown	Het
Tubgcp2	A	G	7: 140,005,361	Y484H	probably damaging	Het
Ubr4	G	C	4: 139,450,513	A1947P		Het
Uggt1	A	C	1: 36,155,107	V1350G	probably benign	Het
Vmn1r173	A	T	7: 23,702,651	M104L	probably benign	Het
Xirp1	A	T	9: 120,019,047	C257S	probably damaging	Het
Zfyve26	A	G	12: 79,280,405	S724P	probably damaging	Het
Zmpste24	A	T	4: 121,082,894	L185Q	probably null	Het
Zpld1	G	A	16: 55,232,231	A340V	probably benign	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
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
R7453:Kat14	UTSW	2	144380734	missense	possibly damaging	0.85
R7738:Kat14	UTSW	2	144394242	missense	probably damaging	1.00
X0018:Kat14	UTSW	2	144373857	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TGCTTTGCACAGATGACGATG -3'
(R):5'- TTGCCGGACGATCAGTTTCC -3'

Sequencing Primer
(F):5'- CTTTGCACAGATGACGATGAGCTG -3'
(R):5'- CGGACGATCAGTTTCCGTTTCAG -3'

Posted On

2019-06-26