Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02625:Kat14'

301035

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 #

IGL02625

Quality Score

Status

Chromosome

Chromosomal Location

144368983-144407676 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 144402445 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 406 (R406H)

Ref Sequence

ENSEMBL: ENSMUSP00000130785 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000028911
AA Change: R617H

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000028911
Gene: ENSMUSG00000027425
AA Change: R617H

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

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

possibly damaging
Transcript: ENSMUST00000147747
AA Change: R406H

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000130785
Gene: ENSMUSG00000027425
AA Change: R406H

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

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alg6	T	A	4: 99,746,347	C109S	probably damaging	Het
Arhgdia	C	A	11: 120,580,213	E53D	probably benign	Het
Ccr4	A	C	9: 114,492,333	C221W	probably damaging	Het
Ces2a	G	A	8: 104,740,278		probably null	Het
Chpf2	G	T	5: 24,591,711	E552*	probably null	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Dnmt1	C	T	9: 20,927,146	R207H	probably benign	Het
Dock2	A	G	11: 34,501,168		probably null	Het
Esr1	A	T	10: 5,001,346	T575S	probably benign	Het
Fancc	A	G	13: 63,398,151	C93R	probably damaging	Het
Foxj3	A	T	4: 119,624,917	R523W	unknown	Het
Fryl	C	T	5: 73,069,877		probably benign	Het
Fsip2	A	C	2: 82,949,492	H194P	probably benign	Het
Gaa	G	A	11: 119,274,733	V350I	probably damaging	Het
Gpn3	T	A	5: 122,381,194	I152N	probably damaging	Het
H2-M10.3	T	A	17: 36,367,525	H136L	probably benign	Het
Hist4h4	C	T	6: 136,804,337		probably benign	Het
Hspg2	A	G	4: 137,512,642	D507G	probably damaging	Het
Jcad	A	G	18: 4,674,422	E728G	probably benign	Het
Kcnma1	G	T	14: 23,363,832	D863E	probably damaging	Het
Lrp1	A	G	10: 127,574,486	Y1464H	probably damaging	Het
Map4	T	C	9: 110,064,417	S584P	probably damaging	Het
Nlrp4f	G	A	13: 65,199,271	L58F	probably damaging	Het
Nlrp6	A	G	7: 140,923,500	I506M	probably benign	Het
Nudt17	G	A	3: 96,706,464	R266W	probably damaging	Het
Olfr1241	A	G	2: 89,482,674	S154P	probably damaging	Het
Olfr1256	A	G	2: 89,835,396	L183P	probably damaging	Het
Olfr651	A	G	7: 104,553,573	Y218C	probably damaging	Het
Plcb4	A	G	2: 135,961,794	E529G	probably benign	Het
Prss32	A	T	17: 23,856,236	I187F	possibly damaging	Het
Prss55	A	T	14: 64,079,369	I108K	probably damaging	Het
Rcl1	A	G	19: 29,118,341	M109V	probably benign	Het
Rho	A	T	6: 115,935,197	M207L	possibly damaging	Het
Slc12a1	A	G	2: 125,170,691	D291G	probably damaging	Het
Slco2b1	A	C	7: 99,660,123		probably null	Het
Stx11	T	A	10: 12,941,917	D21V	possibly damaging	Het
Svep1	T	A	4: 58,115,807	Y962F	possibly damaging	Het
Tbx5	G	T	5: 119,836,907		probably benign	Het
Tcf12	C	A	9: 71,922,757	G141W	probably damaging	Het
Tmtc2	A	G	10: 105,370,546	M296T	probably damaging	Het
Trim13	T	A	14: 61,605,550	S339T	probably benign	Het
Ugt1a7c	A	G	1: 88,095,517	K133E	possibly damaging	Het
Usp40	A	G	1: 87,950,017	V1050A	probably benign	Het
Vmn2r86	T	G	10: 130,452,912	N240T	probably damaging	Het
Wdr36	T	C	18: 32,859,261	V617A	possibly damaging	Het
Wdr38	A	T	2: 38,998,412	N7I	probably damaging	Het
Wdr6	T	C	9: 108,575,505	Y393C	probably damaging	Het
Zfp619	A	T	7: 39,534,185		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
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
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
X0018:Kat14	UTSW	2	144373857	critical splice donor site	probably null

Posted On

2015-04-16