Mutagenetix > Incidental Mutations

Incidental Mutation 'R2071:Kat14'

227113

Institutional Source

Beutler Lab

Gene Symbol

Kat14

Ensembl Gene

ENSMUSG00000027425

Gene Name

lysine acetyltransferase 14

Synonyms

D2Wsu131e, 2510008M08Rik, ATAC2, Csrp2bp, D2Ertd473e

MMRRC Submission

040076-MU

Accession Numbers

Genbank: NM_181417; MGI: 1917264

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R2071 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

144368983-144407676 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 144389216 bp (GRCm38)

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: 57,383,315	H283Q	probably damaging	Het
2810021J22Rik	A	G	11: 58,876,769	K31E	probably damaging	Het
Abcc10	G	C	17: 46,303,565	N1477K	probably benign	Het
Adam33	T	C	2: 131,055,346	T310A	probably benign	Het
Afm	A	G	5: 90,523,735	D92G	probably benign	Het
Arg1	C	T	10: 24,922,663	A30T	probably benign	Het
Ash1l	C	G	3: 88,966,203	P98A	probably damaging	Het
Atad5	A	T	11: 80,098,052		probably null	Het
Atg2a	T	C	19: 6,257,458	V1474A	probably benign	Het
Atp12a	A	G	14: 56,366,009	K24E	probably benign	Het
Auh	G	A	13: 52,835,496	P308L	probably benign	Het
B3gnt4	A	T	5: 123,511,370	H266L	probably benign	Het
Bora	T	C	14: 99,062,278	S229P	probably damaging	Het
C87414	T	G	5: 93,636,516	Q363P	probably damaging	Het
Cdsn	A	T	17: 35,554,694	D40V	probably damaging	Het
Cep295	T	C	9: 15,341,564	R323G	probably damaging	Het
Chek2	T	C	5: 110,841,246		probably benign	Het
Chga	A	T	12: 102,562,863	K366N	probably damaging	Het
Chrm5	T	C	2: 112,479,227	K515E	probably null	Het
Cmtr1	A	G	17: 29,694,783		probably null	Het
Cyr61	C	T	3: 145,648,673	W161*	probably null	Het
Dsg3	T	C	18: 20,536,825	L632S	probably damaging	Het
Fam129a	T	C	1: 151,636,430	F28L	probably damaging	Het
Fzd3	A	G	14: 65,235,563	F252S	probably damaging	Het
Gas2l2	T	C	11: 83,421,949	K846E	probably benign	Het
Gm21761	A	T	13: 119,912,300	D151E	probably benign	Het
Gm8300	T	A	12: 87,517,052	F52L	probably benign	Het
Gpatch11	T	C	17: 78,841,085		probably null	Het
Gucy2g	T	A	19: 55,222,340	Y661F	possibly damaging	Het
Hhip	A	G	8: 80,057,302	F72L	probably benign	Het
Kifc3	A	T	8: 95,108,353		probably null	Het
Kntc1	G	T	5: 123,794,277		probably null	Het
Man2b1	G	T	8: 85,085,384	V156L	possibly damaging	Het
Mast1	T	C	8: 84,921,194	D517G	probably damaging	Het
Mc1r	T	C	8: 123,408,369	L287P	possibly damaging	Het
Mctp1	A	T	13: 76,759,724	E238V	probably damaging	Het
Mmp12	T	A	9: 7,349,725	I52N	probably damaging	Het
Morc1	C	T	16: 48,592,611	T705I	probably benign	Het
Mrpl24	T	C	3: 87,923,067		probably null	Het
Nap1l1	C	T	10: 111,492,900	T230I	possibly damaging	Het
Nmral1	T	A	16: 4,716,347	I77F	probably damaging	Het
Nudt13	T	A	14: 20,303,977	D36E	probably damaging	Het
Oxsm	A	G	14: 16,241,983	L262P	probably benign	Het
Pde10a	A	T	17: 8,961,995	I754F	probably benign	Het
Pdzph1	T	C	17: 58,974,097	R397G	probably benign	Het
Polr1a	T	A	6: 71,976,074	V567E	possibly damaging	Het
Pou3f2	A	G	4: 22,488,076	V19A	probably benign	Het
Pth1r	A	G	9: 110,727,013	I264T	probably benign	Het
Ptprn	C	A	1: 75,255,144	G504C	probably damaging	Het
Rbak	A	G	5: 143,176,584	L8P	probably damaging	Het
Rev3l	T	A	10: 39,824,353	D1615E	probably benign	Het
Rhob	A	G	12: 8,499,232	M134T	probably benign	Het
Slc10a4	T	C	5: 73,007,497	L144P	probably damaging	Het
Slc45a3	T	C	1: 131,977,632	L131P	probably damaging	Het
Slf1	T	A	13: 77,104,624	E259D	probably benign	Het
Slitrk5	A	G	14: 111,680,189	Y415C	probably damaging	Het
Sohlh2	A	G	3: 55,207,622	I343V	probably benign	Het
Sorl1	T	C	9: 41,979,457	D1922G	possibly damaging	Het
Spats2l	T	A	1: 57,940,464	I243N	possibly damaging	Het
Specc1	A	C	11: 62,117,875	K152N	probably damaging	Het
Sv2a	G	A	3: 96,193,875	A730T	possibly damaging	Het
Tars2	C	A	3: 95,747,638	G113C	probably damaging	Het
Tep1	T	C	14: 50,854,282	K601E	probably benign	Het
Tmem8	T	C	17: 26,122,043	Y176H	probably damaging	Het
Trp53	A	G	11: 69,589,632	D278G	probably damaging	Het
Ttc39d	G	A	17: 80,216,601	G230R	probably damaging	Het
Tubb2b	T	A	13: 34,128,261	Y183F	probably damaging	Het
Ubxn7	T	A	16: 32,372,469	C160S	possibly damaging	Het
Vcp	A	G	4: 42,995,894		probably null	Het
Vmn1r201	T	C	13: 22,474,825	F70L	probably benign	Het
Vmn1r49	C	T	6: 90,072,202	V273I	probably benign	Het
Vmn2r103	A	T	17: 19,793,794	I283L	probably benign	Het
Xpr1	T	C	1: 155,290,280	T574A	probably benign	Het
Zfp408	A	G	2: 91,646,018	F364L	probably damaging	Het
Zfyve26	A	G	12: 79,287,446	L266P	possibly damaging	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
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
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

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