Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02367:Zfp493'

290762

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zfp493

Ensembl Gene

ENSMUSG00000090659

Gene Name

zinc finger protein 493

Synonyms

2900054J07Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

IGL02367

Quality Score

Status

Chromosome

Chromosomal Location

67927812-67937201 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 67935089 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 347 (Y347*)

Ref Sequence

ENSEMBL: ENSMUSP00000132282 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000164936] [ENSMUST00000181319] [ENSMUST00000220570]

AlphaFold

E9Q1L8

Predicted Effect

probably null
Transcript: ENSMUST00000164936
AA Change: Y347*

SMART Domains

Protein: ENSMUSP00000132282
Gene: ENSMUSG00000090659
AA Change: Y347*

Domain	Start	End	E-Value	Type
KRAB	5	65	3.47e-32	SMART
ZnF_C2H2	81	103	2.27e-4	SMART
ZnF_C2H2	109	131	3.95e-4	SMART
ZnF_C2H2	137	159	7.37e-4	SMART
ZnF_C2H2	165	187	6.32e-3	SMART
ZnF_C2H2	193	215	2.99e-4	SMART
ZnF_C2H2	221	243	9.73e-4	SMART
ZnF_C2H2	249	271	2.57e-3	SMART
ZnF_C2H2	277	299	1.53e-1	SMART
ZnF_C2H2	305	327	1.1e-2	SMART
ZnF_C2H2	333	355	5.42e-2	SMART
ZnF_C2H2	361	383	1.26e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180507

Predicted Effect

probably benign
Transcript: ENSMUST00000181319

SMART Domains

Protein: ENSMUSP00000137936
Gene: ENSMUSG00000090659

Domain	Start	End	E-Value	Type
KRAB	5	65	3.47e-32	SMART
low complexity region	80	88	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000220570

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223540

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	T	C	15: 81,949,748 (GRCm39)	L1215P	probably benign	Het
Angptl7	T	C	4: 148,584,601 (GRCm39)	N49S	possibly damaging	Het
Asns	A	G	6: 7,685,411 (GRCm39)		probably benign	Het
Atr	T	A	9: 95,781,194 (GRCm39)	Y1419*	probably null	Het
Bptf	A	T	11: 106,964,178 (GRCm39)	I1672N	probably benign	Het
Cgas	G	A	9: 78,341,667 (GRCm39)	T370I	probably benign	Het
Chd1	A	G	17: 17,610,315 (GRCm39)	T490A	probably damaging	Het
Cyfip2	A	T	11: 46,167,732 (GRCm39)	C223*	probably null	Het
Ddr1	G	A	17: 35,994,372 (GRCm39)	A801V	probably damaging	Het
Dnah12	T	C	14: 26,430,316 (GRCm39)	V308A	probably benign	Het
Dync2h1	A	G	9: 7,158,926 (GRCm39)	V703A	probably damaging	Het
Fgd3	A	G	13: 49,440,802 (GRCm39)	F210L	probably damaging	Het
Gm6526	T	G	14: 43,988,262 (GRCm39)	V171G	probably damaging	Het
Grin3a	A	G	4: 49,702,805 (GRCm39)	Y894H	probably damaging	Het
Grm3	C	A	5: 9,561,660 (GRCm39)	C730F	probably damaging	Het
Habp4	C	A	13: 64,321,905 (GRCm39)	P181T	probably damaging	Het
Hdac4	A	G	1: 91,886,171 (GRCm39)		probably benign	Het
Ints5	A	G	19: 8,872,959 (GRCm39)	D306G	probably benign	Het
Mid2	T	A	X: 139,637,245 (GRCm39)	I273N	probably damaging	Het
Ndufs2	A	T	1: 171,066,934 (GRCm39)	Y114*	probably null	Het
Neu4	G	T	1: 93,952,213 (GRCm39)	R194L	probably damaging	Het
Ntng1	A	T	3: 110,042,829 (GRCm39)		probably null	Het
Nub1	A	G	5: 24,894,392 (GRCm39)	M1V	probably null	Het
Olfml2a	A	G	2: 38,844,680 (GRCm39)	T379A	probably benign	Het
Or9e1	A	T	11: 58,732,338 (GRCm39)	I133F	probably benign	Het
Pex3	G	T	10: 13,400,643 (GRCm39)	Q303K	probably benign	Het
Pmp2	A	T	3: 10,247,560 (GRCm39)	I43N	probably damaging	Het
Pnliprp1	T	A	19: 58,726,601 (GRCm39)	D319E	probably benign	Het
Rap1gap2	A	T	11: 74,288,181 (GRCm39)		probably null	Het
Rpl15-ps6	T	C	15: 52,341,368 (GRCm39)		noncoding transcript	Het
Rwdd3	A	G	3: 120,952,679 (GRCm39)	V104A	probably damaging	Het
Sbf1	A	T	15: 89,191,775 (GRCm39)	V157E	probably damaging	Het
Slc4a11	T	A	2: 130,526,879 (GRCm39)	I750F	probably damaging	Het
Tcea1	G	A	1: 4,948,356 (GRCm39)		probably null	Het
Ush2a	A	T	1: 188,516,943 (GRCm39)	M3218L	probably benign	Het
Utp20	G	A	10: 88,607,715 (GRCm39)		probably benign	Het
Zswim6	T	C	13: 107,880,637 (GRCm39)		noncoding transcript	Het

Other mutations in Zfp493

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01419:Zfp493	APN	13	67,934,921 (GRCm39)	missense	probably benign	0.06
R0647:Zfp493	UTSW	13	67,931,994 (GRCm39)	missense	possibly damaging	0.92
R1478:Zfp493	UTSW	13	67,934,680 (GRCm39)	missense	probably damaging	1.00
R1617:Zfp493	UTSW	13	67,931,999 (GRCm39)	missense	probably damaging	1.00
R1990:Zfp493	UTSW	13	67,934,388 (GRCm39)	missense	probably damaging	1.00
R4007:Zfp493	UTSW	13	67,932,038 (GRCm39)	splice site	probably benign
R4700:Zfp493	UTSW	13	67,934,736 (GRCm39)	missense	probably damaging	1.00
R4782:Zfp493	UTSW	13	67,934,322 (GRCm39)	missense	probably null	0.97
R5376:Zfp493	UTSW	13	67,934,437 (GRCm39)	missense	possibly damaging	0.81
R5395:Zfp493	UTSW	13	67,931,965 (GRCm39)	nonsense	probably null
R5909:Zfp493	UTSW	13	67,934,717 (GRCm39)	nonsense	probably null
R6066:Zfp493	UTSW	13	67,935,069 (GRCm39)	missense	possibly damaging	0.90
R6419:Zfp493	UTSW	13	67,934,526 (GRCm39)	missense	probably benign	0.16
R6561:Zfp493	UTSW	13	67,934,338 (GRCm39)	missense	possibly damaging	0.92
R6625:Zfp493	UTSW	13	67,934,514 (GRCm39)	nonsense	probably null
R6714:Zfp493	UTSW	13	67,934,499 (GRCm39)	missense	probably benign	0.06
R7678:Zfp493	UTSW	13	67,927,814 (GRCm39)	start gained	probably benign
R7782:Zfp493	UTSW	13	67,935,123 (GRCm39)	missense	probably benign	0.31
R8262:Zfp493	UTSW	13	67,934,976 (GRCm39)	missense	probably damaging	1.00
R8317:Zfp493	UTSW	13	67,931,958 (GRCm39)	missense	probably benign	0.42
R9469:Zfp493	UTSW	13	67,934,325 (GRCm39)	missense	probably benign	0.05
R9586:Zfp493	UTSW	13	67,932,017 (GRCm39)	missense	possibly damaging	0.86
X0021:Zfp493	UTSW	13	67,934,497 (GRCm39)	missense	probably benign

Posted On

2015-04-16