Mutagenetix > Incidental Mutation

Incidental Mutation 'R9260:Kat14'

702152

Institutional Source

Beutler Lab

Gene Symbol

Kat14

Ensembl Gene

ENSMUSG00000027425

Gene Name

lysine acetyltransferase 14

Synonyms

Csrp2bp, 2510008M08Rik, ATAC2, D2Ertd473e, D2Wsu131e

MMRRC Submission

068962-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9260 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

144210952-144249595 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 144235441 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 300 (D300E)

Ref Sequence

ENSEMBL: ENSMUSP00000028911 (fasta)

Gene Model

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

AlphaFold

Q8CID0

Predicted Effect

probably benign
Transcript: ENSMUST00000028911
AA Change: D300E

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000028911
Gene: ENSMUSG00000027425
AA Change: D300E

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: D89E

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000130785
Gene: ENSMUSG00000027425
AA Change: D89E

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: 99.1%

Validation Efficiency

100% (77/77)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp1a4	A	G	1: 172,074,359 (GRCm39)	I298T	probably damaging	Het
Bmper	T	A	9: 23,318,016 (GRCm39)	L545H	probably benign	Het
Cacnb3	A	G	15: 98,537,438 (GRCm39)	S39G	probably benign	Het
Casr	T	C	16: 36,330,326 (GRCm39)	K336R	probably benign	Het
Ccdc141	C	A	2: 76,844,795 (GRCm39)	G1424V	probably damaging	Het
Cd101	A	T	3: 100,920,599 (GRCm39)	D437E	probably benign	Het
Chadl	A	G	15: 81,578,058 (GRCm39)	S524P	probably damaging	Het
Cimap2	T	C	4: 106,472,634 (GRCm39)	K84E	probably benign	Het
Clec4a4	C	T	6: 123,000,895 (GRCm39)	R203*	probably null	Het
Cntnap4	A	G	8: 113,500,276 (GRCm39)	I523V	probably benign	Het
Cpb1	T	A	3: 20,316,638 (GRCm39)	Y304F	probably damaging	Het
Dnajc14	T	G	10: 128,642,766 (GRCm39)	S229R	possibly damaging	Het
Dnajc15	A	G	14: 78,081,839 (GRCm39)	V101A	possibly damaging	Het
Dpyd	A	T	3: 119,108,447 (GRCm39)	Y830F	possibly damaging	Het
Ehbp1l1	A	G	19: 5,769,278 (GRCm39)	V675A	probably benign	Het
F10	G	A	8: 13,105,638 (GRCm39)	C413Y	probably damaging	Het
Fam47e	C	T	5: 92,735,384 (GRCm39)	L206F	probably damaging	Het
Fpr1	A	T	17: 18,098,006 (GRCm39)		probably benign	Het
Frem2	G	C	3: 53,560,204 (GRCm39)	S1434R	probably damaging	Het
Gli3	G	T	13: 15,899,675 (GRCm39)	V1021F	probably damaging	Het
Gm7168	A	T	17: 14,169,488 (GRCm39)	N285I	probably benign	Het
Grip1	G	A	10: 119,874,569 (GRCm39)	E778K	possibly damaging	Het
Herc1	T	A	9: 66,325,691 (GRCm39)	C1388*	probably null	Het
Hikeshi	T	C	7: 89,579,776 (GRCm39)		probably benign	Het
Hjv	T	A	3: 96,435,579 (GRCm39)	I279N	probably damaging	Het
Igfn1	T	C	1: 135,907,694 (GRCm39)	E217G	probably benign	Het
Ighv1-59	T	C	12: 115,298,737 (GRCm39)	T106A	probably benign	Het
Igkv6-23	T	A	6: 70,237,457 (GRCm39)	I95F	probably damaging	Het
Il31ra	A	T	13: 112,668,202 (GRCm39)	S456T	probably damaging	Het
Ints3	T	C	3: 90,308,468 (GRCm39)	D610G	probably damaging	Het
Iqcg	G	A	16: 32,855,973 (GRCm39)	Q201*	probably null	Het
Kbtbd13	T	C	9: 65,298,852 (GRCm39)	H28R	possibly damaging	Het
Kcnh2	A	T	5: 24,528,069 (GRCm39)	D866E	probably damaging	Het
Kdm4b	A	G	17: 56,701,775 (GRCm39)	T595A	probably benign	Het
Lct	C	T	1: 128,227,704 (GRCm39)	W1263*	probably null	Het
Micall2	T	A	5: 139,695,453 (GRCm39)	M905L	unknown	Het
Mkrn1	T	C	6: 39,382,530 (GRCm39)		probably benign	Het
Mobp	A	G	9: 119,997,572 (GRCm39)	T164A	unknown	Het
Mtrr	T	C	13: 68,728,674 (GRCm39)	E42G	possibly damaging	Het
Muc5b	T	A	7: 141,405,255 (GRCm39)	W888R	unknown	Het
Myh7	G	A	14: 55,224,842 (GRCm39)	A575V	probably damaging	Het
Nbea	A	C	3: 55,891,233 (GRCm39)	L1612W	possibly damaging	Het
Notch3	A	G	17: 32,362,216 (GRCm39)		probably null	Het
Nsun4	T	C	4: 115,902,007 (GRCm39)	Y153C	probably damaging	Het
Nup210	A	G	6: 91,039,785 (GRCm39)	I690T	probably benign	Het
Nyap2	T	A	1: 81,064,835 (GRCm39)		probably benign	Het
Oaz1	T	A	10: 80,662,603 (GRCm39)	S4T	possibly damaging	Het
Optn	C	T	2: 5,045,076 (GRCm39)	C222Y	probably benign	Het
Or11i1	A	G	3: 106,729,510 (GRCm39)	S122P	probably damaging	Het
Or4f17-ps1	T	A	2: 111,358,271 (GRCm39)	V222E		Het
Or5ac19	T	C	16: 59,089,677 (GRCm39)	M118V	probably damaging	Het
Or6c76b	G	A	10: 129,692,458 (GRCm39)	V24M	probably benign	Het
Or7a40	A	T	16: 16,491,337 (GRCm39)	C169*	probably null	Het
Osmr	T	A	15: 6,882,033 (GRCm39)	H37L	probably benign	Het
Pccb	G	T	9: 100,877,643 (GRCm39)	P287Q	probably benign	Het
Pclo	T	A	5: 14,764,287 (GRCm39)	D4253E	unknown	Het
Pdcd6ip	A	T	9: 113,526,572 (GRCm39)		probably null	Het
Pde9a	T	C	17: 31,678,137 (GRCm39)		probably null	Het
Pdk2	C	A	11: 94,930,260 (GRCm39)	V59F	probably damaging	Het
Pgm1	T	A	4: 99,827,186 (GRCm39)	V362E	probably damaging	Het
Pmepa1	CCGGCGGCGGCGGCGGCGG	CCGGCGGCGGCGGCGG	2: 173,117,943 (GRCm39)		probably benign	Het
Pold4	T	C	19: 4,282,904 (GRCm39)	F97S	possibly damaging	Het
Ppp5c	C	T	7: 16,740,886 (GRCm39)	V361I	probably benign	Het
Prrt1	A	G	17: 34,850,120 (GRCm39)	Y178C	probably damaging	Het
Psmb11	A	T	14: 54,863,033 (GRCm39)	I84F	probably damaging	Het
Smg7	A	G	1: 152,737,549 (GRCm39)	S131P	probably damaging	Het
Snrnp200	T	A	2: 127,078,428 (GRCm39)	L1728Q	probably damaging	Het
Stbd1	A	T	5: 92,753,456 (GRCm39)	E315D	probably damaging	Het
Tcaf1	C	T	6: 42,663,554 (GRCm39)	G109R	possibly damaging	Het
Thap12	C	T	7: 98,356,280 (GRCm39)	R56*	probably null	Het
Ttn	T	C	2: 76,645,919 (GRCm39)	E12848G	probably benign	Het
Unc13d	AATGCCTCCCATGCC	AATGCCTCCCATGCCTCCCATGCC	11: 115,958,998 (GRCm39)		probably benign	Het
Uqcrfs1	G	A	13: 30,725,108 (GRCm39)	A144V	probably damaging	Het
Usp13	T	A	3: 32,955,909 (GRCm39)		probably benign	Het
Wdr19	T	A	5: 65,363,789 (GRCm39)	D67E	possibly damaging	Het
Zfp998	A	T	13: 66,579,375 (GRCm39)	H369Q	unknown	Het
Zkscan3	A	T	13: 21,578,210 (GRCm39)	W226R	probably damaging	Het
Zmym5	A	C	14: 57,041,641 (GRCm39)	F154C	probably 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
R2071:Kat14	UTSW	2	144,231,136 (GRCm39)	missense	probably damaging	1.00
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
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'- CCCATCATTACTGTTGAGGGAC -3'
(R):5'- TACCATGAAACAGGGCTTGGG -3'

Sequencing Primer
(F):5'- CTCAGAAAACGGGCAAGCCG -3'
(R):5'- CTTGGGGTGGCATCACGTC -3'

Posted On

2022-03-25