Mutagenetix > Incidental Mutation

Incidental Mutation 'R7453:Kat14'

577855

Institutional Source

Beutler Lab

Gene Symbol

Kat14

Ensembl Gene

ENSMUSG00000027425

Gene Name

lysine acetyltransferase 14

Synonyms

D2Wsu131e, 2510008M08Rik, ATAC2, Csrp2bp, D2Ertd473e

MMRRC Submission

Accession Numbers

Genbank: NM_181417; MGI: 1917264

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7453 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

144368983-144407676 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 144380734 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 136 (S136P)

Ref Sequence

ENSEMBL: ENSMUSP00000028911 (fasta)

Gene Model

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

AlphaFold

Q8CID0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028911
AA Change: S136P

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000028911
Gene: ENSMUSG00000027425
AA Change: S136P

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

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

probably benign
Transcript: ENSMUST00000156410

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (122/122)

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: 120 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430550D23Rik	A	G	2: 156,003,389	S32P	possibly damaging	Het
Acaca	T	C	11: 84,245,310	V497A	probably benign	Het
Acox1	T	C	11: 116,180,961	T214A	probably benign	Het
Adgrb2	G	A	4: 130,014,637		probably null	Het
Adh1	G	A	3: 138,289,941		probably null	Het
Angptl1	G	T	1: 156,844,851	M82I	probably benign	Het
Arg1	A	G	10: 24,915,776	L269P	probably damaging	Het
Arid2	T	G	15: 96,370,724	V906G	probably benign	Het
Arid5b	A	T	10: 68,243,164	H114Q	probably benign	Het
Atad5	T	C	11: 80,119,143		probably null	Het
AU040320	G	A	4: 126,835,700		probably null	Het
B230104I21Rik	A	T	4: 154,347,728	T44S	unknown	Het
BC024063	G	A	10: 82,110,157	R537H	possibly damaging	Het
Bfsp2	A	T	9: 103,453,107	L177Q	probably damaging	Het
Birc5	C	A	11: 117,852,681	H80Q	probably damaging	Het
Bpifb9a	T	C	2: 154,264,695	L382P	probably damaging	Het
Ces2c	A	T	8: 104,849,670	N105I	probably benign	Het
Cflar	G	A	1: 58,753,797	V441M		Het
Ckap4	A	G	10: 84,528,599	V200A	probably damaging	Het
Clec16a	C	A	16: 10,644,822	T668N	probably damaging	Het
Cntrl	A	C	2: 35,155,409	E1376D	possibly damaging	Het
Col18a1	A	T	10: 77,085,210		probably null	Het
Coq2	T	C	5: 100,663,586	Y179C	probably benign	Het
Cpne6	A	G	14: 55,512,016	E11G	probably benign	Het
Cr2	A	C	1: 195,165,257		probably null	Het
Csf2rb2	C	T	15: 78,285,291	D555N	probably benign	Het
Cyp2j12	A	T	4: 96,102,126	V401D	possibly damaging	Het
Dbp	C	T	7: 45,705,703	A27V	probably benign	Het
Dll1	C	A	17: 15,374,889	R42L	probably benign	Het
Dst	C	A	1: 34,191,358	H2677Q	possibly damaging	Het
Efl1	G	T	7: 82,681,467	V283F	possibly damaging	Het
Enah	C	T	1: 181,961,905	C7Y	unknown	Het
Fam193a	A	T	5: 34,464,116	E1139V	possibly damaging	Het
Fbn1	G	A	2: 125,320,959	P2136S	possibly damaging	Het
Fggy	T	C	4: 95,597,690	V91A	probably damaging	Het
Fn1	T	A	1: 71,590,880	D2343V	probably damaging	Het
Galk2	T	C	2: 125,887,861	V54A	possibly damaging	Het
Glb1l	T	A	1: 75,202,706	Y193F	probably damaging	Het
Gm45861	G	T	8: 27,541,658	R867L	unknown	Het
Grin2b	T	C	6: 135,740,949	D715G	possibly damaging	Het
Hltf	A	T	3: 20,082,752	R384S	possibly damaging	Het
Hs3st1	A	G	5: 39,614,967	M111T	probably damaging	Het
Idua	A	G	5: 108,681,496	T388A	probably benign	Het
Kif24	A	C	4: 41,394,673	C867W	possibly damaging	Het
Klhdc10	T	A	6: 30,447,990		probably null	Het
Klra10	A	G	6: 130,280,364	V59A	probably damaging	Het
Limk1	T	A	5: 134,669,237	I223F	probably damaging	Het
Lrp10	G	A	14: 54,468,456	G368S	probably damaging	Het
Lrrc7	T	C	3: 158,185,409	R374G	probably benign	Het
Lypd1	T	A	1: 125,873,566	M66L	probably benign	Het
Maats1	A	G	16: 38,321,479	S364P	possibly damaging	Het
Mast4	C	T	13: 102,804,641		probably null	Het
Mbp	C	T	18: 82,554,643	H155Y	probably damaging	Het
Micu3	G	A	8: 40,335,898	C150Y	probably benign	Het
Mras	C	T	9: 99,389,740	V174I	probably benign	Het
Mroh1	T	A	15: 76,433,545	I827N	probably damaging	Het
Ms4a12	C	A	19: 11,225,662	G101*	probably null	Het
Mylk2	A	T	2: 152,912,433	K149M	probably damaging	Het
Myom3	T	A	4: 135,801,035	L1064I	probably damaging	Het
Naa30	A	G	14: 49,187,687	*365W	probably null	Het
Ncoa1	C	T	12: 4,259,307	G1330R	probably damaging	Het
Nhlh1	T	A	1: 172,054,279	T7S	probably benign	Het
Nipsnap3a	A	G	4: 52,995,882	Q110R	probably benign	Het
Nostrin	T	C	2: 69,183,896	Y399H	possibly damaging	Het
Nsfl1c	C	A	2: 151,509,511	T263K	possibly damaging	Het
Nup153	T	C	13: 46,681,181	T1456A	probably damaging	Het
Olfr116	G	T	17: 37,624,385	D83E	probably benign	Het
Olfr154	T	A	2: 85,664,180	M85L	probably benign	Het
Olfr558	T	A	7: 102,709,517	I86N	probably damaging	Het
Olfr67	T	A	7: 103,787,672	I202F	possibly damaging	Het
Olfr933	A	T	9: 38,976,204	H176L	probably damaging	Het
Olfr97	T	C	17: 37,231,980	Y130C	probably damaging	Het
Pan3	G	A	5: 147,526,681		probably null	Het
Pcdhgb2	C	T	18: 37,691,015	T353I	probably damaging	Het
Pcif1	A	T	2: 164,888,364	H339L	probably damaging	Het
Pcif1	A	G	2: 164,889,630	H501R	possibly damaging	Het
Pcnt	T	C	10: 76,389,450	H1740R	probably benign	Het
Polr1b	T	A	2: 129,125,663	I992N	probably damaging	Het
Ppfia2	C	T	10: 106,927,830	T1228M	possibly damaging	Het
Ppp2r5e	A	G	12: 75,462,342	F388L	probably damaging	Het
Ptpre	G	T	7: 135,538,074	R4L	unknown	Het
Pzp	G	T	6: 128,486,916	P1410T	probably damaging	Het
Qrich1	A	C	9: 108,556,476	K656T	possibly damaging	Het
Rabep1	C	T	11: 70,917,660	P481S	probably damaging	Het
Rgs9	T	A	11: 109,227,268	R579W	probably damaging	Het
Rhot1	T	C	11: 80,248,540		probably null	Het
Rnf123	T	A	9: 108,070,408		probably null	Het
Rreb1	T	G	13: 37,941,569	C1284G	probably damaging	Het
Rsph4a	A	G	10: 33,909,293	E400G	probably benign	Het
Rufy4	T	A	1: 74,129,334		probably null	Het
S100pbp	A	G	4: 129,182,085	L149P	probably damaging	Het
Sall3	T	C	18: 80,972,040	D891G	probably benign	Het
Scn10a	C	T	9: 119,638,552	V841I	probably benign	Het
Scn5a	T	A	9: 119,522,590	Y775F	possibly damaging	Het
Sec62	A	T	3: 30,809,796		probably null	Het
Slc24a1	A	T	9: 64,949,301	M108K	unknown	Het
Spata22	T	A	11: 73,335,990		probably null	Het
Stk4	A	G	2: 164,086,602	N118S	probably benign	Het
Stt3a	A	T	9: 36,747,970	S358T	possibly damaging	Het
Tbc1d31	T	A	15: 57,950,995	F531I	probably damaging	Het
Tfrc	A	G	16: 32,619,049	T307A	probably damaging	Het
Thegl	A	G	5: 77,060,786	H387R	probably damaging	Het
Tnpo2	T	C	8: 85,055,022	I811T	probably damaging	Het
Ttc23l	T	C	15: 10,533,767	Y230C	probably damaging	Het
Ttll13	A	G	7: 80,260,434	D775G	probably benign	Het
Ttn	T	C	2: 76,944,929	K1969R	unknown	Het
Ube2s	G	A	7: 4,810,436	R110*	probably null	Het
Ubxn11	G	A	4: 134,126,229	R364Q	probably benign	Het
Unc13d	T	C	11: 116,067,871	Q773R	probably benign	Het
Ush2a	T	C	1: 188,553,111	V1948A	probably damaging	Het
Vmn1r205	A	T	13: 22,592,761	I57N	probably damaging	Het
Vmn2r69	GAAAA	GAAAAA	7: 85,411,560		probably null	Het
Vmn2r71	A	T	7: 85,624,089	T704S	probably benign	Het
Vmn2r93	T	A	17: 18,313,318	S495T	probably benign	Het
Wiz	T	A	17: 32,379,075	I102F	probably benign	Het
Zan	A	C	5: 137,466,002	L514V	probably damaging	Het
Zfp106	T	A	2: 120,510,527	N1857I	probably damaging	Het
Zfp106	A	T	2: 120,545,919		probably null	Het
Zfp738	T	C	13: 67,670,355	T506A	probably benign	Het
Zfp934	T	C	13: 62,518,703	N53S	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
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
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
R9450:Kat14	UTSW	2	144400819	missense	possibly damaging	0.94
R9457:Kat14	UTSW	2	144373782	missense	probably benign	0.02
R9480:Kat14	UTSW	2	144373825	missense	probably damaging	1.00
R9502:Kat14	UTSW	2	144393607	missense	probably damaging	1.00
X0018:Kat14	UTSW	2	144373857	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GTGACACATACAGAACCATTGTACC -3'
(R):5'- TGCACTAGGTTCCCAGCTTG -3'

Sequencing Primer
(F):5'- GTGATTTCTTACCAAAGCAACAAAGG -3'
(R):5'- ACTAGGTTCCCAGCTTGTGTACAG -3'

Posted On

2019-10-07