Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01989:Zfp458'

182799

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zfp458

Ensembl Gene

ENSMUSG00000055480

Gene Name

zinc finger protein 458

Synonyms

Rslcan-7

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

IGL01989

Quality Score

Status

Chromosome

Chromosomal Location

67402982-67426530 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 67407691 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 52 (T52A)

Ref Sequence

ENSEMBL: ENSMUSP00000153563 (fasta)

Gene Model

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

AlphaFold

Q6P5C7

Predicted Effect

probably benign
Transcript: ENSMUST00000045969
AA Change: T55A

PolyPhen 2 Score 0.451 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000047222
Gene: ENSMUSG00000055480
AA Change: T55A

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 damaging
Transcript: ENSMUST00000223990
AA Change: T52A

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224648

Predicted Effect

possibly damaging
Transcript: ENSMUST00000225772
AA Change: T52A

PolyPhen 2 Score 0.717 (Sensitivity: 0.86; Specificity: 0.92)

Coding Region Coverage

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	A	T	10: 28,862,266 (GRCm39)	V8D	probably damaging	Het
Asb15	A	G	6: 24,565,943 (GRCm39)	T299A	probably damaging	Het
Asph	A	T	4: 9,602,462 (GRCm39)		probably benign	Het
Cadm3	G	A	1: 173,165,578 (GRCm39)		probably benign	Het
Cep164	G	A	9: 45,704,313 (GRCm39)		probably benign	Het
Ces2c	C	A	8: 105,576,375 (GRCm39)	N129K	probably damaging	Het
Chdh	C	A	14: 29,753,688 (GRCm39)	P199Q	possibly damaging	Het
Dnah7b	T	C	1: 46,328,694 (GRCm39)	V3142A	probably damaging	Het
Dnmbp	A	G	19: 43,855,994 (GRCm39)	L254P	probably damaging	Het
Dock2	G	T	11: 34,218,053 (GRCm39)	N1172K	probably benign	Het
Dppa5a	T	A	9: 78,275,103 (GRCm39)	E66D	probably benign	Het
F5	A	G	1: 164,003,876 (GRCm39)	S224G	probably benign	Het
Fign	T	C	2: 63,810,794 (GRCm39)	T159A	probably benign	Het
Fsip2	A	T	2: 82,824,211 (GRCm39)	D6648V	probably damaging	Het
Gbp2b	A	T	3: 142,317,201 (GRCm39)	E519V	probably benign	Het
Hdac10	A	G	15: 89,009,546 (GRCm39)	L462P	probably damaging	Het
Hecw2	A	G	1: 53,879,951 (GRCm39)	L1286S	probably damaging	Het
Hnrnpll	A	G	17: 80,346,169 (GRCm39)	V364A	probably benign	Het
Hnrnpul2	A	G	19: 8,800,992 (GRCm39)	T282A	probably damaging	Het
Il12a	T	A	3: 68,598,909 (GRCm39)		probably benign	Het
Insl5	C	A	4: 102,883,838 (GRCm39)	V28L	probably benign	Het
Kcnj3	G	A	2: 55,327,243 (GRCm39)	D11N	probably benign	Het
Lrfn2	A	G	17: 49,378,113 (GRCm39)	D398G	probably damaging	Het
Lrp1	C	T	10: 127,413,998 (GRCm39)	D1137N	probably damaging	Het
Mettl18	C	A	1: 163,823,872 (GRCm39)	D64E	probably benign	Het
Mrpl3	A	G	9: 104,948,678 (GRCm39)	T245A	probably benign	Het
Mrps18c	C	A	5: 100,949,775 (GRCm39)	P52Q	probably damaging	Het
Myh3	A	T	11: 66,977,481 (GRCm39)	D377V	probably damaging	Het
N4bp1	C	A	8: 87,575,115 (GRCm39)	V727L	probably damaging	Het
Npffr2	A	G	5: 89,730,831 (GRCm39)	T254A	probably benign	Het
Nsfl1c	C	A	2: 151,342,649 (GRCm39)	T73K	probably damaging	Het
Or8a1b	C	T	9: 37,623,132 (GRCm39)	V148I	probably damaging	Het
Plxna1	C	T	6: 89,306,396 (GRCm39)	W1442*	probably null	Het
Serpina3n	T	A	12: 104,379,750 (GRCm39)	M381K	probably benign	Het
Shank3	C	T	15: 89,387,502 (GRCm39)		probably benign	Het
Smtnl1	T	C	2: 84,648,814 (GRCm39)	N147D	probably benign	Het
Sprr2j-ps	T	C	3: 92,326,412 (GRCm39)	S96P	unknown	Het
Ssh2	A	G	11: 77,344,511 (GRCm39)	E832G	possibly damaging	Het
Stxbp1	T	C	2: 32,702,076 (GRCm39)	D207G	probably benign	Het
Sult1c2	A	T	17: 54,281,055 (GRCm39)	M16K	probably benign	Het
Tmem247	A	G	17: 87,225,719 (GRCm39)	E53G	probably damaging	Het
Tmem86a	A	T	7: 46,703,187 (GRCm39)	I105F	probably benign	Het
Tph2	A	G	10: 114,981,921 (GRCm39)	S304P	probably benign	Het
Ttn	T	C	2: 76,608,883 (GRCm39)	D17711G	probably damaging	Het
Urb1	A	T	16: 90,566,474 (GRCm39)		probably benign	Het
Vcan	T	A	13: 89,837,478 (GRCm39)	I1729L	possibly damaging	Het
Vmn2r90	T	A	17: 17,933,494 (GRCm39)	Y351*	probably null	Het
Wfdc5	C	T	2: 164,020,651 (GRCm39)		probably null	Het
Wnt3	G	A	11: 103,703,233 (GRCm39)	D239N	probably benign	Het
Zbtb8b	T	A	4: 129,326,181 (GRCm39)	E295V	probably damaging	Het

Other mutations in Zfp458

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01672:Zfp458	APN	13	67,405,300 (GRCm39)	missense	probably benign	0.01
IGL02168:Zfp458	APN	13	67,406,098 (GRCm39)	missense	probably damaging	0.98
IGL02620:Zfp458	APN	13	67,406,058 (GRCm39)	missense	probably damaging	1.00
R0014:Zfp458	UTSW	13	67,406,154 (GRCm39)	missense	possibly damaging	0.71
R0014:Zfp458	UTSW	13	67,406,154 (GRCm39)	missense	possibly damaging	0.71
R0025:Zfp458	UTSW	13	67,405,962 (GRCm39)	missense	probably damaging	0.98
R0066:Zfp458	UTSW	13	67,407,673 (GRCm39)	nonsense	probably null
R0257:Zfp458	UTSW	13	67,407,706 (GRCm39)	nonsense	probably null
R1218:Zfp458	UTSW	13	67,404,273 (GRCm39)	missense	probably damaging	0.99
R1292:Zfp458	UTSW	13	67,404,754 (GRCm39)	missense	probably damaging	1.00
R1490:Zfp458	UTSW	13	67,405,573 (GRCm39)	missense	probably damaging	1.00
R1664:Zfp458	UTSW	13	67,406,144 (GRCm39)	missense	possibly damaging	0.95
R2169:Zfp458	UTSW	13	67,405,113 (GRCm39)	missense	probably damaging	1.00
R3769:Zfp458	UTSW	13	67,405,546 (GRCm39)	missense	probably damaging	1.00
R5305:Zfp458	UTSW	13	67,404,382 (GRCm39)	missense	probably benign	0.31
R5364:Zfp458	UTSW	13	67,406,012 (GRCm39)	nonsense	probably null
R5426:Zfp458	UTSW	13	67,405,256 (GRCm39)	nonsense	probably null
R5760:Zfp458	UTSW	13	67,405,853 (GRCm39)	missense	probably damaging	1.00
R6151:Zfp458	UTSW	13	67,405,662 (GRCm39)	missense	possibly damaging	0.95
R6186:Zfp458	UTSW	13	67,405,701 (GRCm39)	missense	probably damaging	1.00
R6298:Zfp458	UTSW	13	67,404,870 (GRCm39)	missense	probably damaging	1.00
R7368:Zfp458	UTSW	13	67,405,300 (GRCm39)	missense	probably benign	0.01
R7483:Zfp458	UTSW	13	67,404,978 (GRCm39)	missense	possibly damaging	0.94
R7711:Zfp458	UTSW	13	67,407,664 (GRCm39)	missense	possibly damaging	0.95
R7921:Zfp458	UTSW	13	67,404,180 (GRCm39)	makesense	probably null
R7993:Zfp458	UTSW	13	67,405,234 (GRCm39)	missense	probably damaging	1.00
R8240:Zfp458	UTSW	13	67,406,190 (GRCm39)	missense	probably damaging	1.00
R8429:Zfp458	UTSW	13	67,406,152 (GRCm39)	missense	possibly damaging	0.86
R9084:Zfp458	UTSW	13	67,407,633 (GRCm39)	missense	probably benign	0.09
R9099:Zfp458	UTSW	13	67,405,696 (GRCm39)	missense	probably damaging	1.00
R9217:Zfp458	UTSW	13	67,408,298 (GRCm39)	missense	probably damaging	0.99
R9249:Zfp458	UTSW	13	67,405,218 (GRCm39)	missense	probably damaging	1.00
R9765:Zfp458	UTSW	13	67,408,217 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07