Mutagenetix > Incidental Mutations

Incidental Mutation 'R3951:Kat14'

474820

Institutional Source

Beutler Lab

Gene Symbol

Kat14

Ensembl Gene

ENSMUSG00000027425

Gene Name

lysine acetyltransferase 14

Synonyms

D2Wsu131e, 2510008M08Rik, ATAC2, Csrp2bp, D2Ertd473e

MMRRC Submission

040828-MU

Accession Numbers

Genbank: NM_181417; MGI: 1917264

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R3951 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

144368983-144407676 bp(+) (GRCm38)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

T to C at 144407329 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

probably benign
Transcript: ENSMUST00000125398

SMART Domains

Protein: ENSMUSP00000129716
Gene: ENSMUSG00000027425

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

unknown
Transcript: ENSMUST00000139812
AA Change: V73A

SMART Domains

Protein: ENSMUSP00000128694
Gene: ENSMUSG00000027425
AA Change: V73A

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: 97.2%
20x: 94.9%

Validation Efficiency

100% (55/55)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	T	C	10: 100,615,296		probably benign	Het
4932414N04Rik	T	C	2: 68,664,403		probably null	Het
Akr1c18	C	T	13: 4,135,285	V283I	probably benign	Het
Atp2b2	T	A	6: 113,760,831	M861L	possibly damaging	Het
Cdh23	T	C	10: 60,657,326	Y3C	probably benign	Het
Clspn	A	G	4: 126,576,379	E814G	probably damaging	Het
Csgalnact1	T	C	8: 68,461,262	Q97R	probably benign	Het
Dera	A	G	6: 137,837,120	Y100C	probably damaging	Het
Ect2	A	T	3: 27,130,120	D517E	probably benign	Het
Epha4	A	T	1: 77,399,716	Y509N	probably damaging	Het
Fat2	T	C	11: 55,296,382	T1213A	probably benign	Het
Fkbp8	T	A	8: 70,532,661	L275Q	probably damaging	Het
Gabrb2	A	G	11: 42,626,881	Y510C	probably damaging	Het
Gda	T	C	19: 21,472,445	T16A	probably benign	Het
Ggcx	G	A	6: 72,426,558	G363R	probably benign	Het
Gm527	T	G	12: 64,923,502		probably benign	Het
Hoxb2	A	G	11: 96,353,175	E204G	probably damaging	Het
Hsd17b11	G	A	5: 103,992,937		probably benign	Het
Kif16b	C	T	2: 142,707,359	V1079I	probably benign	Het
Klhl29	T	A	12: 5,140,660	S112C	probably damaging	Het
Lpcat2	G	T	8: 92,864,903	M58I	probably benign	Het
Lrrc8d	G	T	5: 105,814,276	V851F	probably benign	Het
Ltbp3	T	C	19: 5,756,001	V929A	probably damaging	Het
Map3k20	T	G	2: 72,438,300	I550M	probably damaging	Het
Map3k9	T	C	12: 81,722,521	M941V	probably benign	Het
Myom2	A	T	8: 15,084,556	Y453F	probably benign	Het
Ncapd2	T	C	6: 125,186,784	K78E	probably damaging	Het
Ncor2	G	T	5: 125,032,256	D1496E	possibly damaging	Het
Ndnf	T	C	6: 65,703,141	Y135H	possibly damaging	Het
Ndst1	T	C	18: 60,697,139	N633S	probably benign	Het
Nmur2	G	C	11: 56,040,225	P220R	probably damaging	Het
Nsd1	G	C	13: 55,268,454	E1438Q	probably benign	Het
Olfr1043	G	T	2: 86,162,618	C110*	probably null	Het
Olfr1128	T	C	2: 87,545,065	T160A	probably damaging	Het
Olfr1413	T	A	1: 92,573,789	M206K	possibly damaging	Het
Olfr229	A	T	9: 39,910,725	R307S	probably benign	Het
Pom121l2	T	G	13: 21,982,128	S190A	probably damaging	Het
Prpmp5	G	A	6: 132,312,694	P56S	unknown	Het
Rtn4ip1	T	A	10: 43,909,897		probably null	Het
Scarb1	A	C	5: 125,287,411	C85G	probably damaging	Het
Sh2d4b	A	G	14: 40,872,546	I159T	probably damaging	Het
Sntg1	C	T	1: 8,782,901		probably benign	Het
Sos1	G	A	17: 80,424,181	T630I	probably damaging	Het
Spata7	T	A	12: 98,669,473	D517E	probably damaging	Het
Tcaf1	T	C	6: 42,679,059	T328A	probably benign	Het
Ticrr	T	C	7: 79,682,069	L776S	probably damaging	Het
Trpc2	T	A	7: 102,093,574	M597K	probably damaging	Het
Ttc37	T	G	13: 76,130,219	L551V	probably damaging	Het
Tubb3	C	A	8: 123,421,264	T312N	probably damaging	Het
Ubr4	G	A	4: 139,393,094	V277M	probably damaging	Het
Uhrf2	G	A	19: 30,079,861	R473Q	probably damaging	Het
Vmn2r43	T	A	7: 8,255,320	H298L	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
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

Predicted Primers

Posted On

2017-04-14