Mutagenetix > Incidental Mutation

Incidental Mutation 'R2071:Kat14'

227113

Institutional Source

Beutler Lab

Gene Symbol

Kat14

Ensembl Gene

ENSMUSG00000027425

Gene Name

lysine acetyltransferase 14

Synonyms

Csrp2bp, 2510008M08Rik, ATAC2, D2Ertd473e, D2Wsu131e

MMRRC Submission

040076-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2071 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

144210952-144249595 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 144231136 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 181 (L181P)

Ref Sequence

ENSEMBL: ENSMUSP00000028911 (fasta)

Gene Model

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

AlphaFold

Q8CID0

Predicted Effect

probably damaging
Transcript: ENSMUST00000028911
AA Change: L181P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000028911
Gene: ENSMUSG00000027425
AA Change: L181P

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

noncoding transcript
Transcript: ENSMUST00000130654

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131836

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137611

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143318

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

silent
Transcript: ENSMUST00000156410

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700066M21Rik	T	A	1: 57,422,474 (GRCm39)	H283Q	probably damaging	Het
2810021J22Rik	A	G	11: 58,767,595 (GRCm39)	K31E	probably damaging	Het
Abcc10	G	C	17: 46,614,491 (GRCm39)	N1477K	probably benign	Het
Adam33	T	C	2: 130,897,266 (GRCm39)	T310A	probably benign	Het
Afm	A	G	5: 90,671,594 (GRCm39)	D92G	probably benign	Het
Arg1	C	T	10: 24,798,561 (GRCm39)	A30T	probably benign	Het
Ash1l	C	G	3: 88,873,510 (GRCm39)	P98A	probably damaging	Het
Atad5	A	T	11: 79,988,878 (GRCm39)		probably null	Het
Atg2a	T	C	19: 6,307,488 (GRCm39)	V1474A	probably benign	Het
Atp12a	A	G	14: 56,603,466 (GRCm39)	K24E	probably benign	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
B3gnt4	A	T	5: 123,649,433 (GRCm39)	H266L	probably benign	Het
Bora	T	C	14: 99,299,714 (GRCm39)	S229P	probably damaging	Het
Ccn1	C	T	3: 145,354,428 (GRCm39)	W161*	probably null	Het
Cdsn	A	T	17: 35,865,591 (GRCm39)	D40V	probably damaging	Het
Cep295	T	C	9: 15,252,860 (GRCm39)	R323G	probably damaging	Het
Chek2	T	C	5: 110,989,112 (GRCm39)		probably benign	Het
Chga	A	T	12: 102,529,122 (GRCm39)	K366N	probably damaging	Het
Chrm5	T	C	2: 112,309,572 (GRCm39)	K515E	probably null	Het
Cmtr1	A	G	17: 29,913,757 (GRCm39)		probably null	Het
Dsg3	T	C	18: 20,669,882 (GRCm39)	L632S	probably damaging	Het
Eif1ad8	T	A	12: 87,563,822 (GRCm39)	F52L	probably benign	Het
Fzd3	A	G	14: 65,473,012 (GRCm39)	F252S	probably damaging	Het
Gas2l2	T	C	11: 83,312,775 (GRCm39)	K846E	probably benign	Het
Gpatch11	T	C	17: 79,148,514 (GRCm39)		probably null	Het
Gucy2g	T	A	19: 55,210,772 (GRCm39)	Y661F	possibly damaging	Het
Hhip	A	G	8: 80,783,931 (GRCm39)	F72L	probably benign	Het
Kifc3	A	T	8: 95,834,981 (GRCm39)		probably null	Het
Kntc1	G	T	5: 123,932,340 (GRCm39)		probably null	Het
Man2b1	G	T	8: 85,812,013 (GRCm39)	V156L	possibly damaging	Het
Mast1	T	C	8: 85,647,823 (GRCm39)	D517G	probably damaging	Het
Mc1r	T	C	8: 124,135,108 (GRCm39)	L287P	possibly damaging	Het
Mctp1	A	T	13: 76,907,843 (GRCm39)	E238V	probably damaging	Het
Mmp12	T	A	9: 7,349,725 (GRCm39)	I52N	probably damaging	Het
Morc1	C	T	16: 48,412,974 (GRCm39)	T705I	probably benign	Het
Mrpl24	T	C	3: 87,830,374 (GRCm39)		probably null	Het
Nap1l1	C	T	10: 111,328,761 (GRCm39)	T230I	possibly damaging	Het
Niban1	T	C	1: 151,512,181 (GRCm39)	F28L	probably damaging	Het
Nmral1	T	A	16: 4,534,211 (GRCm39)	I77F	probably damaging	Het
Nudt13	T	A	14: 20,354,045 (GRCm39)	D36E	probably damaging	Het
Oxsm	A	G	14: 16,241,983 (GRCm38)	L262P	probably benign	Het
Pde10a	A	T	17: 9,180,827 (GRCm39)	I754F	probably benign	Het
Pdzph1	T	C	17: 59,281,092 (GRCm39)	R397G	probably benign	Het
Pgap6	T	C	17: 26,341,017 (GRCm39)	Y176H	probably damaging	Het
Polr1a	T	A	6: 71,953,058 (GRCm39)	V567E	possibly damaging	Het
Pou3f2	A	G	4: 22,488,076 (GRCm39)	V19A	probably benign	Het
Pramel34	T	G	5: 93,784,375 (GRCm39)	Q363P	probably damaging	Het
Pth1r	A	G	9: 110,556,081 (GRCm39)	I264T	probably benign	Het
Ptprn	C	A	1: 75,231,788 (GRCm39)	G504C	probably damaging	Het
Rbak	A	G	5: 143,162,339 (GRCm39)	L8P	probably damaging	Het
Rev3l	T	A	10: 39,700,349 (GRCm39)	D1615E	probably benign	Het
Rhob	A	G	12: 8,549,232 (GRCm39)	M134T	probably benign	Het
Slc10a4	T	C	5: 73,164,840 (GRCm39)	L144P	probably damaging	Het
Slc45a3	T	C	1: 131,905,370 (GRCm39)	L131P	probably damaging	Het
Slf1	T	A	13: 77,252,743 (GRCm39)	E259D	probably benign	Het
Slitrk5	A	G	14: 111,917,621 (GRCm39)	Y415C	probably damaging	Het
Sohlh2	A	G	3: 55,115,043 (GRCm39)	I343V	probably benign	Het
Sorl1	T	C	9: 41,890,753 (GRCm39)	D1922G	possibly damaging	Het
Spats2l	T	A	1: 57,979,623 (GRCm39)	I243N	possibly damaging	Het
Specc1	A	C	11: 62,008,701 (GRCm39)	K152N	probably damaging	Het
Sv2a	G	A	3: 96,101,191 (GRCm39)	A730T	possibly damaging	Het
Tars2	C	A	3: 95,654,950 (GRCm39)	G113C	probably damaging	Het
Tcstv2b	A	T	13: 120,373,836 (GRCm39)	D151E	probably benign	Het
Tep1	T	C	14: 51,091,739 (GRCm39)	K601E	probably benign	Het
Trp53	A	G	11: 69,480,458 (GRCm39)	D278G	probably damaging	Het
Ttc39d	G	A	17: 80,524,030 (GRCm39)	G230R	probably damaging	Het
Tubb2b	T	A	13: 34,312,244 (GRCm39)	Y183F	probably damaging	Het
Ubxn7	T	A	16: 32,191,287 (GRCm39)	C160S	possibly damaging	Het
Vcp	A	G	4: 42,995,894 (GRCm39)		probably null	Het
Vmn1r201	T	C	13: 22,658,995 (GRCm39)	F70L	probably benign	Het
Vmn1r49	C	T	6: 90,049,184 (GRCm39)	V273I	probably benign	Het
Vmn2r103	A	T	17: 20,014,056 (GRCm39)	I283L	probably benign	Het
Xpr1	T	C	1: 155,166,026 (GRCm39)	T574A	probably benign	Het
Zfp408	A	G	2: 91,476,363 (GRCm39)	F364L	probably damaging	Het
Zfyve26	A	G	12: 79,334,220 (GRCm39)	L266P	possibly 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
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
R4628: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'- TAAAGGCAGGCAGATCCCAC -3'
(R):5'- GTGAAACTGTCCTGCTCACAG -3'

Sequencing Primer
(F):5'- AGATCCCACCCCTGGCTC -3'
(R):5'- TGCTCACAGCCCCAGAG -3'

Posted On

2014-09-17