Mutagenetix > Incidental Mutation

Incidental Mutation 'R3699:Zfp521'

269934

Institutional Source

Beutler Lab

Gene Symbol

Zfp521

Ensembl Gene

ENSMUSG00000024420

Gene Name

zinc finger protein 521

Synonyms

Evi3, B930086A16Rik

MMRRC Submission

040692-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.926) question?

Stock #

R3699 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

13820070-14105812 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 13979330 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Stop codon at position 361 (S361*)

Ref Sequence

ENSEMBL: ENSMUSP00000025288 (fasta)

Gene Model

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

AlphaFold

Q6KAS7

Predicted Effect

probably null
Transcript: ENSMUST00000025288
AA Change: S361*

SMART Domains

Protein: ENSMUSP00000025288
Gene: ENSMUSG00000024420
AA Change: S361*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (33/33)

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd29	G	A	18: 12,387,757 (GRCm39)	A275V	possibly damaging	Het
Atp1b2	G	A	11: 69,496,095 (GRCm39)	T35I	probably benign	Het
Baz1a	A	G	12: 54,963,831 (GRCm39)	V751A	probably benign	Het
Cdh23	C	A	10: 60,163,149 (GRCm39)		probably null	Het
Chd2	G	T	7: 73,118,238 (GRCm39)	L1127I	probably benign	Het
D7Ertd443e	A	G	7: 133,950,797 (GRCm39)	L292P	probably damaging	Het
Dst	T	C	1: 34,252,155 (GRCm39)		probably benign	Het
Dync2i1	C	T	12: 116,175,462 (GRCm39)	W905*	probably null	Het
Gm8229	T	A	14: 44,603,984 (GRCm39)	S58T	unknown	Het
Gucy2c	A	T	6: 136,747,109 (GRCm39)	C117S	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Klhl18	A	G	9: 110,265,134 (GRCm39)	Y291H	probably benign	Het
Lamc1	G	T	1: 153,130,951 (GRCm39)	S333R	possibly damaging	Het
Lbr	T	C	1: 181,646,485 (GRCm39)	Y479C	probably damaging	Het
Nampt	T	C	12: 32,898,758 (GRCm39)		probably benign	Het
Or10am5	A	G	7: 6,517,993 (GRCm39)	M145T	probably damaging	Het
Pcnx3	G	T	19: 5,722,493 (GRCm39)	R1400S	probably damaging	Het
Pde4b	C	T	4: 102,458,742 (GRCm39)	A466V	probably damaging	Het
Piezo1	C	T	8: 123,221,642 (GRCm39)	R584H	probably damaging	Het
Polq	C	A	16: 36,862,518 (GRCm39)	S338Y	probably damaging	Het
Pramel26	A	G	4: 143,536,922 (GRCm39)	S470P	probably benign	Het
Rassf8	T	C	6: 145,765,802 (GRCm39)		probably benign	Het
Rere	A	T	4: 150,561,819 (GRCm39)		probably null	Het
Rps6kb1	A	G	11: 86,423,620 (GRCm39)	F120S	probably damaging	Het
Scarf1	G	T	11: 75,405,195 (GRCm39)	C78F	probably damaging	Het
Tepsin	C	T	11: 119,982,579 (GRCm39)	C491Y	possibly damaging	Het
Trpv4	A	G	5: 114,772,861 (GRCm39)	S243P	probably damaging	Het
Whrn	A	T	4: 63,379,649 (GRCm39)		probably benign	Het
Zfyve19	A	G	2: 119,041,720 (GRCm39)	T96A	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
IGL00499:Zfp521	APN	18	14,072,177 (GRCm39)	missense	probably benign	0.25
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
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

Predicted Primers

PCR Primer
(F):5'- AAGTGAATCTGCAGAACCGC -3'
(R):5'- AGGAGACGTCCCTCATGAAC -3'

Sequencing Primer
(F):5'- ATCTGCAGAACCGCGAGACTG -3'
(R):5'- CACATCGAGCAGGTACACGG -3'

Posted On

2015-03-18