Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00499:Zfp521'

3386

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zfp521

Ensembl Gene

ENSMUSG00000024420

Gene Name

zinc finger protein 521

Synonyms

Evi3, B930086A16Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.932) question?

Stock #

IGL00499

Quality Score

Status

Chromosome

Chromosomal Location

13820070-14105812 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 14072177 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 21 (D21V)

Ref Sequence

ENSEMBL: ENSMUSP00000025288 (fasta)

Gene Model

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

AlphaFold

Q6KAS7

Predicted Effect

probably benign
Transcript: ENSMUST00000025288
AA Change: D21V

PolyPhen 2 Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000025288
Gene: ENSMUSG00000024420
AA Change: D21V

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930533K18Rik	C	A	10: 70,711,138 (GRCm39)		noncoding transcript	Het
Abcb9	T	C	5: 124,215,301 (GRCm39)	D480G	possibly damaging	Het
Adam26a	A	T	8: 44,021,896 (GRCm39)	N531K	possibly damaging	Het
AW554918	A	T	18: 25,553,122 (GRCm39)	K542*	probably null	Het
Blk	A	G	14: 63,618,169 (GRCm39)	F246L	probably damaging	Het
Camk1	T	C	6: 113,313,172 (GRCm39)	E292G	probably benign	Het
Ccdc88a	C	T	11: 29,449,341 (GRCm39)	T261I	probably benign	Het
Cep290	A	T	10: 100,379,189 (GRCm39)	Q57L	probably damaging	Het
Cpsf1	A	T	15: 76,484,416 (GRCm39)	H688Q	probably benign	Het
Cryz	T	C	3: 154,310,579 (GRCm39)	V13A	possibly damaging	Het
Dst	A	G	1: 34,329,504 (GRCm39)	K6858R	probably damaging	Het
Dync2h1	A	T	9: 7,168,700 (GRCm39)	V371E	possibly damaging	Het
Eps8	C	A	6: 137,499,886 (GRCm39)	E181*	probably null	Het
Flt4	T	C	11: 49,526,088 (GRCm39)	I796T	probably damaging	Het
Gmps	A	G	3: 63,921,788 (GRCm39)	N597S	probably benign	Het
Itgav	T	A	2: 83,633,339 (GRCm39)	M1011K	probably damaging	Het
Kif16b	A	G	2: 142,699,244 (GRCm39)	M112T	probably damaging	Het
Lig1	T	C	7: 13,032,756 (GRCm39)		probably null	Het
Lrrc30	A	G	17: 67,939,034 (GRCm39)	F182S	probably damaging	Het
Oxsm	A	T	14: 16,242,076 (GRCm38)	M231K	probably damaging	Het
Pnisr	T	C	4: 21,870,407 (GRCm39)		probably null	Het
Rsrc1	A	T	3: 66,989,933 (GRCm39)		probably benign	Het
Setd1b	A	T	5: 123,296,810 (GRCm39)		probably benign	Het
Tbx6	A	G	7: 126,380,701 (GRCm39)	Y8C	probably damaging	Het
Tmem33	T	C	5: 67,441,538 (GRCm39)	Y196H	probably damaging	Het
Traf5	T	C	1: 191,741,589 (GRCm39)	D96G	possibly damaging	Het
Tsc22d1	T	A	14: 76,656,357 (GRCm39)	D945E	probably damaging	Het
Tubb2b	T	C	13: 34,312,329 (GRCm39)	I155V	probably benign	Het
Usp13	T	A	3: 32,935,560 (GRCm39)	Y328N	probably damaging	Het
Usp17lc	G	A	7: 103,067,673 (GRCm39)	D323N	probably damaging	Het
Usp17lc	G	A	7: 103,067,672 (GRCm39)	M322I	probably damaging	Het
Zfp341	C	T	2: 154,476,151 (GRCm39)	T446I	probably damaging	Het
Zfp407	A	G	18: 84,579,877 (GRCm39)	L412P	probably damaging	Het
Zranb1	A	G	7: 132,584,233 (GRCm39)		probably benign	Het

Other mutations in Zfp521

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00264:Zfp521	APN	18	13,979,559 (GRCm39)	missense	probably benign	0.15
IGL01291:Zfp521	APN	18	13,950,303 (GRCm39)	missense	probably damaging	1.00
IGL01335:Zfp521	APN	18	13,977,776 (GRCm39)	missense	probably benign	0.31
IGL01384:Zfp521	APN	18	13,976,980 (GRCm39)	missense	probably benign	0.26
IGL01520:Zfp521	APN	18	14,072,045 (GRCm39)	missense	possibly damaging	0.92
IGL02248:Zfp521	APN	18	13,977,303 (GRCm39)	missense	possibly damaging	0.93
IGL02640:Zfp521	APN	18	13,977,987 (GRCm39)	missense	probably benign	0.00
ANU05:Zfp521	UTSW	18	13,950,303 (GRCm39)	missense	probably damaging	1.00
R0113:Zfp521	UTSW	18	13,978,148 (GRCm39)	missense	probably damaging	1.00
R0197:Zfp521	UTSW	18	13,978,119 (GRCm39)	missense	probably benign	0.00
R0457:Zfp521	UTSW	18	13,977,897 (GRCm39)	missense	probably benign
R0494:Zfp521	UTSW	18	13,979,927 (GRCm39)	missense	probably damaging	1.00
R0494:Zfp521	UTSW	18	13,978,325 (GRCm39)	missense	probably damaging	1.00
R0883:Zfp521	UTSW	18	13,978,119 (GRCm39)	missense	probably benign	0.00
R2133:Zfp521	UTSW	18	13,977,762 (GRCm39)	missense	possibly damaging	0.88
R2263:Zfp521	UTSW	18	13,979,297 (GRCm39)	missense	possibly damaging	0.89
R3699:Zfp521	UTSW	18	13,979,330 (GRCm39)	nonsense	probably null
R3760:Zfp521	UTSW	18	13,977,686 (GRCm39)	missense	possibly damaging	0.93
R3851:Zfp521	UTSW	18	13,850,808 (GRCm39)	splice site	probably benign
R3950:Zfp521	UTSW	18	13,979,403 (GRCm39)	missense	probably damaging	0.99
R4398:Zfp521	UTSW	18	13,979,601 (GRCm39)	missense	probably benign	0.26
R4583:Zfp521	UTSW	18	13,977,387 (GRCm39)	missense	probably benign	0.19
R4688:Zfp521	UTSW	18	13,977,648 (GRCm39)	nonsense	probably null
R4688:Zfp521	UTSW	18	13,977,647 (GRCm39)	missense	probably damaging	1.00
R4698:Zfp521	UTSW	18	13,978,660 (GRCm39)	missense	probably damaging	0.96
R4738:Zfp521	UTSW	18	13,977,111 (GRCm39)	missense	possibly damaging	0.50
R5031:Zfp521	UTSW	18	13,977,330 (GRCm39)	missense	possibly damaging	0.68
R5137:Zfp521	UTSW	18	13,978,505 (GRCm39)	missense	probably damaging	1.00
R5257:Zfp521	UTSW	18	13,980,035 (GRCm39)	missense	probably damaging	1.00
R5420:Zfp521	UTSW	18	13,977,144 (GRCm39)	missense	probably damaging	1.00
R5917:Zfp521	UTSW	18	13,978,612 (GRCm39)	missense	probably damaging	0.98
R5995:Zfp521	UTSW	18	13,850,681 (GRCm39)	missense	probably damaging	1.00
R6088:Zfp521	UTSW	18	13,979,166 (GRCm39)	missense	possibly damaging	0.47
R6150:Zfp521	UTSW	18	13,977,135 (GRCm39)	missense	probably damaging	1.00
R6261:Zfp521	UTSW	18	13,977,684 (GRCm39)	missense	probably damaging	1.00
R7649:Zfp521	UTSW	18	13,977,413 (GRCm39)	missense	probably damaging	1.00
R7662:Zfp521	UTSW	18	13,977,173 (GRCm39)	missense	probably damaging	1.00
R7774:Zfp521	UTSW	18	13,978,838 (GRCm39)	missense	probably benign	0.41
R7935:Zfp521	UTSW	18	13,977,549 (GRCm39)	missense	probably damaging	1.00
R8225:Zfp521	UTSW	18	13,978,359 (GRCm39)	missense	probably benign	0.15
R8486:Zfp521	UTSW	18	13,979,829 (GRCm39)	missense	probably damaging	0.99
R8686:Zfp521	UTSW	18	13,978,701 (GRCm39)	missense	probably damaging	1.00
R8852:Zfp521	UTSW	18	14,072,150 (GRCm39)	missense	probably benign	0.11
R8883:Zfp521	UTSW	18	13,979,137 (GRCm39)	missense	probably damaging	1.00
R8897:Zfp521	UTSW	18	13,979,137 (GRCm39)	missense	probably damaging	1.00
R8898:Zfp521	UTSW	18	13,979,137 (GRCm39)	missense	probably damaging	1.00
R8899:Zfp521	UTSW	18	13,979,137 (GRCm39)	missense	probably damaging	1.00
R8910:Zfp521	UTSW	18	13,977,233 (GRCm39)	missense	probably benign	0.14
R8959:Zfp521	UTSW	18	13,979,137 (GRCm39)	missense	probably damaging	1.00
R8980:Zfp521	UTSW	18	13,979,137 (GRCm39)	missense	probably damaging	1.00
R8989:Zfp521	UTSW	18	13,979,137 (GRCm39)	missense	probably damaging	1.00
R8990:Zfp521	UTSW	18	13,979,137 (GRCm39)	missense	probably damaging	1.00
R8991:Zfp521	UTSW	18	13,979,137 (GRCm39)	missense	probably damaging	1.00
R9276:Zfp521	UTSW	18	13,977,698 (GRCm39)	missense	probably benign	0.03
R9453:Zfp521	UTSW	18	13,977,293 (GRCm39)	missense	probably damaging	1.00
R9478:Zfp521	UTSW	18	13,950,372 (GRCm39)	missense	probably damaging	1.00
R9524:Zfp521	UTSW	18	13,980,173 (GRCm39)	missense	possibly damaging	0.95
R9643:Zfp521	UTSW	18	13,978,922 (GRCm39)	missense	probably damaging	0.96
Z1176:Zfp521	UTSW	18	13,848,220 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-04-20