Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01520:Zfp521'

90483

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 #

IGL01520

Quality Score

Status

Chromosome

Chromosomal Location

13687013-13972733 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 13938988 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 65 (H65R)

Ref Sequence

ENSEMBL: ENSMUSP00000025288 (fasta)

Gene Model

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

AlphaFold

Q6KAS7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025288
AA Change: H65R

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000025288
Gene: ENSMUSG00000024420
AA Change: H65R

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	C	A	15: 8,221,911	T1889K	probably damaging	Het
4430402I18Rik	A	T	19: 28,896,132		probably null	Het
4932438A13Rik	T	A	3: 36,973,260	Y2265*	probably null	Het
Acan	T	A	7: 79,084,570	H58Q	probably damaging	Het
Atp6v1c2	A	T	12: 17,297,753	L149Q	probably damaging	Het
Cd40lg	A	G	X: 57,219,788	N132D	probably benign	Het
Cemip	G	T	7: 83,948,622	T1060K	probably benign	Het
Ces1a	G	T	8: 93,045,098	P24T	probably damaging	Het
Ces5a	A	T	8: 93,519,578	S328T	probably benign	Het
Cfap70	A	G	14: 20,420,687	C497R	probably benign	Het
Cndp2	T	C	18: 84,668,607	K430R	probably benign	Het
Crlf3	T	C	11: 80,060,146	D126G	probably benign	Het
Cxcr1	A	T	1: 74,192,275	L196Q	probably damaging	Het
E330013P04Rik	A	G	19: 60,161,897		noncoding transcript	Het
Erbb2	C	T	11: 98,434,009	H810Y	probably benign	Het
Fam57a	T	C	11: 76,207,225		probably null	Het
Fmn1	C	A	2: 113,444,368		probably benign	Het
Fpr3	A	G	17: 17,971,063	T199A	possibly damaging	Het
Gcsh	A	G	8: 116,983,949		probably benign	Het
Gm10073	T	A	8: 106,573,269	I28F	probably benign	Het
Gucy1a2	C	A	9: 3,759,561	Q456K	probably damaging	Het
Hgs	C	A	11: 120,478,348	P317T	probably damaging	Het
Inmt	C	A	6: 55,171,228	V139F	probably damaging	Het
Kcnma1	C	A	14: 23,501,143	M460I	possibly damaging	Het
Map9	A	T	3: 82,378,965	N359I	probably damaging	Het
Mavs	T	C	2: 131,245,343	S254P	probably benign	Het
Mcts1	T	A	X: 38,611,759		probably benign	Het
Mecp2	C	A	X: 74,035,841	R344L	possibly damaging	Het
Olfr1006	T	C	2: 85,674,357	T265A	probably benign	Het
Olfr1427	A	G	19: 12,099,636	M1T	probably null	Het
Olfr1469	G	T	19: 13,410,750	M60I	probably damaging	Het
Olfr392	T	G	11: 73,814,786	T99P	probably damaging	Het
Olfr957	T	C	9: 39,511,046	I225V	possibly damaging	Het
Olfr969	T	G	9: 39,795,378	M1R	probably null	Het
Rasgrp1	T	C	2: 117,288,663	I498V	probably damaging	Het
Rbbp6	T	A	7: 122,985,675	S185T	possibly damaging	Het
Rd3	A	T	1: 191,985,322	H251L	possibly damaging	Het
Rnf180	T	A	13: 105,250,356	D148V	probably damaging	Het
Rnf43	C	A	11: 87,664,716	A34E	probably damaging	Het
Rslcan18	A	G	13: 67,102,108	V21A	probably benign	Het
Sept9	T	C	11: 117,352,643	V128A	probably damaging	Het
Slc36a1	A	G	11: 55,219,656	H103R	probably benign	Het
Ssh2	A	G	11: 77,449,906	D628G	probably damaging	Het
Tmem119	A	G	5: 113,795,485	F85S	probably damaging	Het
Tpp1	A	T	7: 105,747,729	I398N	probably benign	Het
Ttc3	T	C	16: 94,390,207	Y203H	probably benign	Het
Vars	G	T	17: 35,013,873	V898L	probably benign	Het
Vmn1r85	A	C	7: 13,085,154	V21G	probably damaging	Het

Other mutations in Zfp521

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00264:Zfp521	APN	18	13846502	missense	probably benign	0.15
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
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

2013-12-09