Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00264:Zfp521'

3387

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zfp521

Ensembl Gene

ENSMUSG00000024420

Gene Name

zinc finger protein 521

Synonyms

B930086A16Rik, Evi3

Accession Numbers

Essential gene?

Probably essential (E-score: 0.926) question?

Stock #

IGL00264

Quality Score

Status

Chromosome

Chromosomal Location

13687013-13972733 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 13846502 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 285 (Y285H)

Ref Sequence

ENSEMBL: ENSMUSP00000025288 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025288]

AlphaFold

Q6KAS7

Predicted Effect

probably benign
Transcript: ENSMUST00000025288
AA Change: Y285H

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000025288
Gene: ENSMUSG00000024420
AA Change: Y285H

Domain	Start	End	E-Value	Type
ZnF_C2H2	47	68	3.47e1	SMART
low complexity region	82	100	N/A	INTRINSIC
low complexity region	102	113	N/A	INTRINSIC
ZnF_C2H2	118	140	3.89e-3	SMART
ZnF_C2H2	146	168	1.33e-1	SMART
ZnF_C2H2	174	196	1.38e-3	SMART
ZnF_C2H2	202	224	2.36e-2	SMART
ZnF_C2H2	246	269	6.57e-1	SMART
ZnF_C2H2	281	304	3.52e-1	SMART
ZnF_C2H2	310	332	1.76e-1	SMART
low complexity region	345	358	N/A	INTRINSIC
ZnF_C2H2	405	429	4.34e-1	SMART
ZnF_C2H2	437	460	6.23e-2	SMART
ZnF_C2H2	477	500	8.94e-3	SMART
ZnF_C2H2	513	536	5.42e-2	SMART
ZnF_C2H2	560	585	1.86e0	SMART
ZnF_C2H2	634	656	1.12e-3	SMART
ZnF_C2H2	664	686	2.12e-4	SMART
ZnF_C2H2	694	717	6.42e-4	SMART
ZnF_C2H2	722	745	7.78e-3	SMART
ZnF_C2H2	752	775	6.32e-3	SMART
ZnF_C2H2	783	805	2.05e-2	SMART
ZnF_C2H2	809	832	4.72e-2	SMART
ZnF_C2H2	886	909	1.86e0	SMART
ZnF_C2H2	930	952	3.04e-5	SMART
ZnF_C2H2	959	981	6.42e-4	SMART
ZnF_C2H2	988	1010	7.49e0	SMART
ZnF_C2H2	1020	1042	4.99e1	SMART
Blast:RING	1067	1098	1e-9	BLAST
low complexity region	1099	1119	N/A	INTRINSIC
ZnF_C2H2	1138	1161	1.79e-2	SMART
ZnF_C2H2	1195	1217	2.53e-2	SMART
ZnF_C2H2	1225	1247	2.32e-1	SMART
ZnF_C2H2	1256	1279	2.91e-2	SMART
ZnF_C2H2	1286	1309	5.72e-1	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele exhibit postnatal growth retardation, behavioral anomalies including hyperlocomotion, lower anxiety, higher impulsivity and impaired learning, abnormal formation of the neuronal cell layers of the dentate gyrus in the hippocampus, and premature death. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110002H16Rik	T	C	18: 12,179,219	V172A	probably benign	Het
Actr3	T	G	1: 125,397,229	I319L	probably benign	Het
Akap7	C	T	10: 25,171,240	D20N	probably benign	Het
Ambra1	T	A	2: 91,911,589	S1070T	probably benign	Het
Arhgef9	T	C	X: 95,081,631		probably null	Het
Ascc3	T	G	10: 50,714,435	V1083G	probably damaging	Het
Asns	T	A	6: 7,680,179	E312D	probably damaging	Het
Bpifc	A	C	10: 85,960,528	V472G	possibly damaging	Het
Ccdc71	T	A	9: 108,463,038	S17T	probably damaging	Het
Cebpzos	T	C	17: 78,918,348		probably benign	Het
Cfi	T	C	3: 129,873,095	I489T	probably damaging	Het
Chrm2	T	A	6: 36,523,391	F61Y	probably damaging	Het
Cpxm1	T	C	2: 130,395,943	Y149C	probably damaging	Het
Dnah6	A	G	6: 73,195,737	I246T	probably benign	Het
Ereg	C	A	5: 91,074,779	S7Y	probably benign	Het
Ghsr	T	A	3: 27,374,873	L349Q	possibly damaging	Het
Gm10754	A	G	10: 97,682,412		probably benign	Het
Gm8237	A	T	14: 5,864,475	L29H	probably benign	Het
Hexim2	A	G	11: 103,138,455	E111G	probably damaging	Het
Itga1	A	T	13: 114,992,363	N586K	possibly damaging	Het
Kat6b	A	G	14: 21,668,559	D1102G	probably benign	Het
Kif27	A	T	13: 58,337,604	M514K	probably benign	Het
Matn2	T	C	15: 34,428,470	I660T	probably damaging	Het
Mki67	C	A	7: 135,707,820	G301*	probably null	Het
Olfr1451	A	G	19: 12,999,319	Y111C	probably damaging	Het
Olfr1480	A	C	19: 13,529,850	Y103S	probably damaging	Het
Olfr364-ps1	T	C	2: 37,147,067	F285S	probably damaging	Het
Olfr539	T	A	7: 140,667,941	I211N	probably benign	Het
Pcdhb8	A	T	18: 37,355,473	H68L	probably benign	Het
Pkhd1l1	T	C	15: 44,491,029	V272A	possibly damaging	Het
Pstpip2	T	C	18: 77,871,559		probably benign	Het
Rdh14	G	T	12: 10,391,134	G99W	probably damaging	Het
Sra1	A	T	18: 36,668,739	S99R	probably benign	Het
Tbrg1	G	T	9: 37,651,041	N280K	probably benign	Het
Ugt8a	A	G	3: 125,914,636		probably null	Het
Usp40	A	T	1: 88,004,238		probably benign	Het
Vmn1r45	T	A	6: 89,933,664	Y108F	probably damaging	Het

Other mutations in Zfp521

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00499:Zfp521	APN	18	13939120	missense	probably benign	0.25
IGL01291:Zfp521	APN	18	13817246	missense	probably damaging	1.00
IGL01335:Zfp521	APN	18	13844719	missense	probably benign	0.31
IGL01384:Zfp521	APN	18	13843923	missense	probably benign	0.26
IGL01520:Zfp521	APN	18	13938988	missense	possibly damaging	0.92
IGL02248:Zfp521	APN	18	13844246	missense	possibly damaging	0.93
IGL02640:Zfp521	APN	18	13844930	missense	probably benign	0.00
ANU05:Zfp521	UTSW	18	13817246	missense	probably damaging	1.00
R0113:Zfp521	UTSW	18	13845091	missense	probably damaging	1.00
R0197:Zfp521	UTSW	18	13845062	missense	probably benign	0.00
R0457:Zfp521	UTSW	18	13844840	missense	probably benign
R0494:Zfp521	UTSW	18	13845268	missense	probably damaging	1.00
R0494:Zfp521	UTSW	18	13846870	missense	probably damaging	1.00
R0883:Zfp521	UTSW	18	13845062	missense	probably benign	0.00
R2133:Zfp521	UTSW	18	13844705	missense	possibly damaging	0.88
R2263:Zfp521	UTSW	18	13846240	missense	possibly damaging	0.89
R3699:Zfp521	UTSW	18	13846273	nonsense	probably null
R3760:Zfp521	UTSW	18	13844629	missense	possibly damaging	0.93
R3851:Zfp521	UTSW	18	13717751	splice site	probably benign
R3950:Zfp521	UTSW	18	13846346	missense	probably damaging	0.99
R4398:Zfp521	UTSW	18	13846544	missense	probably benign	0.26
R4583:Zfp521	UTSW	18	13844330	missense	probably benign	0.19
R4688:Zfp521	UTSW	18	13844590	missense	probably damaging	1.00
R4688:Zfp521	UTSW	18	13844591	nonsense	probably null
R4698:Zfp521	UTSW	18	13845603	missense	probably damaging	0.96
R4738:Zfp521	UTSW	18	13844054	missense	possibly damaging	0.50
R5031:Zfp521	UTSW	18	13844273	missense	possibly damaging	0.68
R5137:Zfp521	UTSW	18	13845448	missense	probably damaging	1.00
R5257:Zfp521	UTSW	18	13846978	missense	probably damaging	1.00
R5420:Zfp521	UTSW	18	13844087	missense	probably damaging	1.00
R5917:Zfp521	UTSW	18	13845555	missense	probably damaging	0.98
R5995:Zfp521	UTSW	18	13717624	missense	probably damaging	1.00
R6088:Zfp521	UTSW	18	13846109	missense	possibly damaging	0.47
R6150:Zfp521	UTSW	18	13844078	missense	probably damaging	1.00
R6261:Zfp521	UTSW	18	13844627	missense	probably damaging	1.00
R7649:Zfp521	UTSW	18	13844356	missense	probably damaging	1.00
R7662:Zfp521	UTSW	18	13844116	missense	probably damaging	1.00
R7774:Zfp521	UTSW	18	13845781	missense	probably benign	0.41
R7935:Zfp521	UTSW	18	13844492	missense	probably damaging	1.00
R8225:Zfp521	UTSW	18	13845302	missense	probably benign	0.15
R8486:Zfp521	UTSW	18	13846772	missense	probably damaging	0.99
R8686:Zfp521	UTSW	18	13845644	missense	probably damaging	1.00
R8852:Zfp521	UTSW	18	13939093	missense	probably benign	0.11
R8883:Zfp521	UTSW	18	13846080	missense	probably damaging	1.00
R8897:Zfp521	UTSW	18	13846080	missense	probably damaging	1.00
R8898:Zfp521	UTSW	18	13846080	missense	probably damaging	1.00
R8899:Zfp521	UTSW	18	13846080	missense	probably damaging	1.00
R8910:Zfp521	UTSW	18	13844176	missense	probably benign	0.14
R8959:Zfp521	UTSW	18	13846080	missense	probably damaging	1.00
R8980:Zfp521	UTSW	18	13846080	missense	probably damaging	1.00
R8989:Zfp521	UTSW	18	13846080	missense	probably damaging	1.00
R8990:Zfp521	UTSW	18	13846080	missense	probably damaging	1.00
R8991:Zfp521	UTSW	18	13846080	missense	probably damaging	1.00
R9276:Zfp521	UTSW	18	13844641	missense	probably benign	0.03
R9453:Zfp521	UTSW	18	13844236	missense	probably damaging	1.00
R9478:Zfp521	UTSW	18	13817315	missense	probably damaging	1.00
R9524:Zfp521	UTSW	18	13847116	missense	possibly damaging	0.95
R9643:Zfp521	UTSW	18	13845865	missense	probably damaging	0.96
Z1176:Zfp521	UTSW	18	13715163	missense	probably damaging	1.00

Posted On

2012-04-20