Mutagenetix > Incidental Mutations

Incidental Mutation 'R1490:Zfp458'

163672

Institutional Source

Beutler Lab

Gene Symbol

Zfp458

Ensembl Gene

ENSMUSG00000055480

Gene Name

zinc finger protein 458

Synonyms

Rslcan-7

MMRRC Submission

039542-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

R1490 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

67254918-67278466 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 67257509 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 286 (P286S)

Ref Sequence

ENSEMBL: ENSMUSP00000153284 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045969] [ENSMUST00000223990] [ENSMUST00000225772]

Predicted Effect

probably benign
Transcript: ENSMUST00000045969
AA Change: P289S

PolyPhen 2 Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000047222
Gene: ENSMUSG00000055480
AA Change: P289S

Domain	Start	End	E-Value	Type
KRAB	5	65	5.27e-32	SMART
ZnF_C2H2	81	103	2.09e-3	SMART
ZnF_C2H2	109	131	1.03e-2	SMART
ZnF_C2H2	137	159	4.11e-2	SMART
ZnF_C2H2	193	215	2.17e1	SMART
ZnF_C2H2	221	243	2.95e-3	SMART
ZnF_C2H2	249	271	7.9e-4	SMART
ZnF_C2H2	277	299	6.32e-3	SMART
ZnF_C2H2	305	327	3.52e-1	SMART
ZnF_C2H2	333	355	1.38e-3	SMART
ZnF_C2H2	361	383	3.63e-3	SMART
ZnF_C2H2	389	411	1.2e-3	SMART
ZnF_C2H2	417	439	3.52e-1	SMART
ZnF_C2H2	445	467	4.87e-4	SMART
ZnF_C2H2	473	495	7.26e-3	SMART
ZnF_C2H2	501	523	1.18e-2	SMART
ZnF_C2H2	529	551	1.56e-2	SMART
ZnF_C2H2	557	579	2.05e-2	SMART
ZnF_C2H2	585	607	7.78e-3	SMART
ZnF_C2H2	641	663	1.76e-1	SMART
ZnF_C2H2	669	691	5.21e-4	SMART
ZnF_C2H2	697	719	5.14e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000223990

Predicted Effect

probably damaging
Transcript: ENSMUST00000225772
AA Change: P286S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the C2H2-type zinc finger gene family. The zinc finger proteins are involved in gene regulation and development, and are quite conserved throughout evolution. Like this gene product, a third of the zinc finger proteins containing C2H2 fingers also contain the KRAB domain, which has been found to be involved in protein-protein interactions. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700025F22Rik	A	G	19: 11,141,538	I69T	probably benign	Het
Aldh1l2	G	A	10: 83,520,370	T52I	probably damaging	Het
Arhgef28	G	A	13: 97,978,444	R633W	probably damaging	Het
Atg9a	T	C	1: 75,185,745	N507S	possibly damaging	Het
Bsn	A	G	9: 108,113,994	S1520P	probably benign	Het
Cacul1	G	T	19: 60,580,399	A107E	probably damaging	Het
Cd74	A	G	18: 60,811,366	D216G	probably damaging	Het
Cdh16	A	T	8: 104,622,070	W109R	probably damaging	Het
Cdip1	C	T	16: 4,768,911	V100I	probably damaging	Het
Ceacam3	A	G	7: 17,163,146	D679G	probably damaging	Het
Comp	A	G	8: 70,373,913	D46G	possibly damaging	Het
Dlx3	T	C	11: 95,120,604	Y95H	probably benign	Het
Dmrta2	T	C	4: 109,979,875	S5P	unknown	Het
E130308A19Rik	A	G	4: 59,719,746	Y426C	probably damaging	Het
Entpd3	A	G	9: 120,554,159	S87G	probably benign	Het
Eps8l1	A	G	7: 4,470,889	R232G	probably damaging	Het
Gart	A	T	16: 91,624,344	V812D	probably damaging	Het
Gm10153	C	T	7: 142,190,142	C83Y	unknown	Het
Gpd2	T	C	2: 57,355,475	V394A	probably damaging	Het
Hpcal1	A	T	12: 17,786,224	E18D	probably benign	Het
Mdga2	T	C	12: 66,797,756	D156G	probably benign	Het
Mks1	A	G	11: 87,862,769	K510E	probably benign	Het
Mtmr4	G	A	11: 87,612,225	R1035Q	probably damaging	Het
Myh6	T	A	14: 54,962,718	K235*	probably null	Het
Nedd1	A	G	10: 92,700,798	F214S	probably damaging	Het
Olfr166	T	C	16: 19,486,922	M28T	probably benign	Het
Olfr392	A	G	11: 73,814,371	V237A	possibly damaging	Het
Olfr672	A	G	7: 104,996,493	I137T	possibly damaging	Het
Olfr98	A	G	17: 37,262,842	M274T	probably benign	Het
Pfkfb2	A	C	1: 130,697,889		probably null	Het
Pfkfb4	T	C	9: 109,027,620	L398P	probably damaging	Het
Pfn3	T	G	13: 55,414,919	D83A	probably damaging	Het
Pi4ka	C	A	16: 17,386,268	W54L	probably damaging	Het
Ppp3r1	A	G	11: 17,198,275	D161G	probably benign	Het
Prrc2a	A	G	17: 35,153,254	S1757P	probably benign	Het
Samd7	A	G	3: 30,758,353	E314G	probably benign	Het
Slc17a4	A	G	13: 23,904,753	I217T	probably benign	Het
Slc22a1	A	T	17: 12,662,893		probably null	Het
Slc7a7	C	T	14: 54,408,646	R120H	probably damaging	Het
Sos1	A	T	17: 80,413,675	H905Q	probably benign	Het
Thada	G	A	17: 84,446,601	T314I	possibly damaging	Het
Tirap	ACTGCTGCTGCTGCTGCTG	ACTGCTGCTGCTGCTG	9: 35,189,066		probably benign	Het
Tlr11	A	C	14: 50,363,176	H873P	probably benign	Het
Tlr4	A	T	4: 66,839,374	T135S	possibly damaging	Het
Tmem116	T	C	5: 121,495,111	S183P	probably damaging	Het
Tubgcp3	A	T	8: 12,639,550	I572K	probably damaging	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Ush2a	C	T	1: 188,359,841	T523I	probably benign	Het
Usp40	G	A	1: 87,988,965	Q364*	probably null	Het
Vmn1r61	T	C	7: 5,611,243	Q24R	probably benign	Het
Wdfy4	C	A	14: 33,152,538		probably null	Het
Zfp68	A	T	5: 138,606,829	C373S	probably benign	Het
Zfp768	T	A	7: 127,343,631	I442F	probably damaging	Het
Zfp990	A	G	4: 145,537,283	R284G	probably benign	Het

Other mutations in Zfp458

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01672:Zfp458	APN	13	67257236	missense	probably benign	0.01
IGL01989:Zfp458	APN	13	67259627	missense	probably damaging	0.98
IGL02168:Zfp458	APN	13	67258034	missense	probably damaging	0.98
IGL02620:Zfp458	APN	13	67257994	missense	probably damaging	1.00
R0014:Zfp458	UTSW	13	67258090	missense	possibly damaging	0.71
R0014:Zfp458	UTSW	13	67258090	missense	possibly damaging	0.71
R0025:Zfp458	UTSW	13	67257898	missense	probably damaging	0.98
R0066:Zfp458	UTSW	13	67259609	nonsense	probably null
R0257:Zfp458	UTSW	13	67259642	nonsense	probably null
R1218:Zfp458	UTSW	13	67256209	missense	probably damaging	0.99
R1292:Zfp458	UTSW	13	67256690	missense	probably damaging	1.00
R1664:Zfp458	UTSW	13	67258080	missense	possibly damaging	0.95
R2169:Zfp458	UTSW	13	67257049	missense	probably damaging	1.00
R3769:Zfp458	UTSW	13	67257482	missense	probably damaging	1.00
R5305:Zfp458	UTSW	13	67256318	missense	probably benign	0.31
R5364:Zfp458	UTSW	13	67257948	nonsense	probably null
R5426:Zfp458	UTSW	13	67257192	nonsense	probably null
R5760:Zfp458	UTSW	13	67257789	missense	probably damaging	1.00
R6151:Zfp458	UTSW	13	67257598	missense	possibly damaging	0.95
R6186:Zfp458	UTSW	13	67257637	missense	probably damaging	1.00
R6298:Zfp458	UTSW	13	67256806	missense	probably damaging	1.00
R7368:Zfp458	UTSW	13	67257236	missense	probably benign	0.01
R7483:Zfp458	UTSW	13	67256914	missense	possibly damaging	0.94
R7711:Zfp458	UTSW	13	67259600	missense	possibly damaging	0.95

Predicted Primers

Posted On

2014-03-28