Mutagenetix > Incidental Mutation

Incidental Mutation 'R0257:Zfp458'

34801

Institutional Source

Beutler Lab

Gene Symbol

Zfp458

Ensembl Gene

ENSMUSG00000055480

Gene Name

zinc finger protein 458

Synonyms

Rslcan-7

MMRRC Submission

038488-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R0257 (G1)

Quality Score

183

Status

Validated

Chromosome

Chromosomal Location

67254918-67278466 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 67259642 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 47 (K47*)

Ref Sequence

ENSEMBL: ENSMUSP00000153284 (fasta)

Gene Model

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

AlphaFold

Q6P5C7

Predicted Effect

probably null
Transcript: ENSMUST00000045969
AA Change: K50*

SMART Domains

Protein: ENSMUSP00000047222
Gene: ENSMUSG00000055480
AA Change: K50*

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 null
Transcript: ENSMUST00000223990
AA Change: K47*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224648

Predicted Effect

probably null
Transcript: ENSMUST00000225772
AA Change: K47*

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 98.5%
3x: 97.5%
10x: 95.7%
20x: 92.2%

Validation Efficiency

99% (67/68)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	T	A	17: 56,885,169	Y577*	probably null	Het
Aatf	T	A	11: 84,510,281	E171D	probably benign	Het
Adgre5	T	A	8: 83,731,995	H134L	possibly damaging	Het
Ahsg	A	T	16: 22,899,040	M256L	probably benign	Het
Alk	A	T	17: 72,603,495	L72Q	probably damaging	Het
Ano2	C	A	6: 125,880,713	A505E	probably benign	Het
Bcas3	A	G	11: 85,822,039	K908E	probably benign	Het
C3ar1	A	G	6: 122,850,787	V157A	probably benign	Het
Car2	C	G	3: 14,899,977	H224D	probably benign	Het
Cfh	T	C	1: 140,144,035	D287G	probably benign	Het
Disp3	G	T	4: 148,250,754	N944K	possibly damaging	Het
Dlg1	A	G	16: 31,842,853		probably benign	Het
Dmbt1	A	G	7: 131,106,393	E1281G	probably damaging	Het
Dmxl1	T	A	18: 49,955,803		probably benign	Het
Dtx3	T	C	10: 127,192,892	D159G	probably benign	Het
Ets2	T	A	16: 95,712,201	C140*	probably null	Het
Fbf1	T	C	11: 116,155,091	I226V	probably benign	Het
Fgd6	T	A	10: 94,043,915	H210Q	probably benign	Het
Fktn	A	G	4: 53,734,898	T179A	probably benign	Het
Galnt10	T	C	11: 57,781,078	M398T	probably damaging	Het
Grk5	G	T	19: 61,076,630		probably benign	Het
Gse1	A	G	8: 120,572,334		probably benign	Het
Hmcn2	T	C	2: 31,369,164		probably benign	Het
Iqgap2	A	G	13: 95,724,544		probably null	Het
Lama4	T	C	10: 39,094,884		probably benign	Het
Luzp2	A	G	7: 55,249,446	T271A	probably benign	Het
Mdn1	T	A	4: 32,693,534	V1053D	probably damaging	Het
Mrm1	A	C	11: 84,814,823		probably benign	Het
Msh5	G	C	17: 35,032,864	R407G	probably damaging	Het
Myo1c	A	T	11: 75,665,516		probably null	Het
Nek5	T	C	8: 22,123,672		probably benign	Het
Nrxn2	A	G	19: 6,490,698	I894V	possibly damaging	Het
Olfr372	C	T	8: 72,058,400	T240M	probably damaging	Het
Pde4a	C	T	9: 21,192,421	P175L	probably damaging	Het
Pip5k1c	C	A	10: 81,315,096	A628E	possibly damaging	Het
Piwil2	C	T	14: 70,422,631	S139N	probably benign	Het
Prob1	T	C	18: 35,653,039	K721E	possibly damaging	Het
Rps6ka2	C	A	17: 7,227,983	S57Y	probably damaging	Het
Rxfp1	C	T	3: 79,682,535	V100M	possibly damaging	Het
Serpinb9e	A	T	13: 33,257,681	M199L	probably benign	Het
Slc17a3	C	T	13: 23,855,858	S293F	probably damaging	Het
Slc4a8	G	A	15: 100,784,880		probably benign	Het
Sned1	A	T	1: 93,265,097	S369C	possibly damaging	Het
St18	T	A	1: 6,819,962	F539L	probably benign	Het
Stam2	C	T	2: 52,694,782	G500D	possibly damaging	Het
Stx16	G	A	2: 174,096,961	V307M	probably benign	Het
Svep1	G	A	4: 58,179,610	S211L	possibly damaging	Het
Tcf12	C	T	9: 71,858,622	S512N	probably benign	Het
Tiam2	T	C	17: 3,450,813	V909A	possibly damaging	Het
Tmem64	C	T	4: 15,266,343	A131V	probably damaging	Het
Tnrc6b	C	A	15: 80,894,355	N1176K	possibly damaging	Het
Trrap	C	T	5: 144,804,235	S1264L	probably benign	Het
Ttn	T	A	2: 76,810,431	T13658S	possibly damaging	Het
Vmn2r104	G	A	17: 20,029,627	T794I	probably damaging	Het
Vmn2r52	T	A	7: 10,171,055	R286*	probably null	Het
Vps53	A	T	11: 76,177,385		probably benign	Het
Wdr18	A	G	10: 79,961,119		probably benign	Het
Wdr31	A	G	4: 62,460,518		probably null	Het
Zfp983	A	G	17: 21,661,440	T95A	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
R1218:Zfp458	UTSW	13	67256209	missense	probably damaging	0.99
R1292:Zfp458	UTSW	13	67256690	missense	probably damaging	1.00
R1490:Zfp458	UTSW	13	67257509	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
R7921:Zfp458	UTSW	13	67256116	makesense	probably null
R7993:Zfp458	UTSW	13	67257170	missense	probably damaging	1.00
R8240:Zfp458	UTSW	13	67258126	missense	probably damaging	1.00
R8429:Zfp458	UTSW	13	67258088	missense	possibly damaging	0.86
R9084:Zfp458	UTSW	13	67259569	missense	probably benign	0.09
R9099:Zfp458	UTSW	13	67257632	missense	probably damaging	1.00
R9217:Zfp458	UTSW	13	67260234	missense	probably damaging	0.99
R9249:Zfp458	UTSW	13	67257154	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGGACAGAGGTTAAGCTGCTTTGG -3'
(R):5'- TCAACAGGGAGGTTCATAGGGCTAC -3'

Sequencing Primer
(F):5'- GTTAAGCTGCTTTGGGAAACAC -3'
(R):5'- GTATGCCTTAAAGAGACTGTCACAC -3'

Posted On

2013-05-09