Mutagenetix > Incidental Mutation

Incidental Mutation 'R3760:Zfp521'

270519

Institutional Source

Beutler Lab

Gene Symbol

Zfp521

Ensembl Gene

ENSMUSG00000024420

Gene Name

zinc finger protein 521

Synonyms

Evi3, B930086A16Rik

MMRRC Submission

040740-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.926) question?

Stock #

R3760 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

13820070-14105812 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 13977686 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 909 (H909R)

Ref Sequence

ENSEMBL: ENSMUSP00000025288 (fasta)

Gene Model

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

AlphaFold

Q6KAS7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025288
AA Change: H909R

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000025288
Gene: ENSMUSG00000024420
AA Change: H909R

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

0.1549

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.2%

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl2	T	C	3: 148,522,871 (GRCm39)	E1448G	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Ct45a	C	T	X: 55,590,568 (GRCm39)	V78I	probably benign	Het
Ell2	A	T	13: 75,910,281 (GRCm39)	Q163L	probably benign	Het
Epha6	T	A	16: 60,041,347 (GRCm39)	T423S	possibly damaging	Het
Fhad1	T	C	4: 141,637,124 (GRCm39)	E1114G	probably damaging	Het
Gpr83	A	T	9: 14,772,034 (GRCm39)	T69S	probably benign	Het
Gramd1c	A	T	16: 43,818,154 (GRCm39)	M342K	probably damaging	Het
H3c7	T	C	13: 23,728,985 (GRCm39)	C111R	probably damaging	Het
Idua	T	C	5: 108,817,978 (GRCm39)		probably benign	Het
Kcnh1	T	C	1: 192,188,332 (GRCm39)	L931P	probably damaging	Het
Map2	T	A	1: 66,478,077 (GRCm39)	S470T	probably damaging	Het
Map7	T	C	10: 20,152,027 (GRCm39)		probably benign	Het
Obscn	A	G	11: 58,919,406 (GRCm39)	L6213P	probably damaging	Het
Or5b109	T	C	19: 13,212,250 (GRCm39)	L212P	probably damaging	Het
Or8k38	G	A	2: 86,488,232 (GRCm39)	S190L	possibly damaging	Het
Pcnx4	C	T	12: 72,613,780 (GRCm39)	T575M	probably damaging	Het
Ppp1r12a	A	G	10: 108,100,595 (GRCm39)	D348G	probably damaging	Het
Prrc2c	T	C	1: 162,520,420 (GRCm39)	N730S	probably damaging	Het
Serpinb3d	C	T	1: 107,009,304 (GRCm39)		probably benign	Het
Skint6	T	C	4: 112,794,655 (GRCm39)	T705A	possibly damaging	Het
Slc6a20a	A	G	9: 123,492,054 (GRCm39)	I50T	probably damaging	Het
Taf13	T	C	3: 108,485,424 (GRCm39)		probably benign	Het
Tlr11	A	T	14: 50,599,700 (GRCm39)	E562V	probably damaging	Het
Uhrf2	T	C	19: 30,051,331 (GRCm39)	S302P	probably benign	Het
Ulk1	C	T	5: 110,937,223 (GRCm39)	R691Q	probably benign	Het
Unc79	T	A	12: 103,058,964 (GRCm39)	L1036Q	probably damaging	Het
Vmn1r85	A	T	7: 12,818,932 (GRCm39)	S71T	probably damaging	Het
Vmn2r-ps158	G	A	7: 42,673,502 (GRCm39)	E187K	probably benign	Het
Vps52	T	C	17: 34,179,162 (GRCm39)	F200L	possibly damaging	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
R3699:Zfp521	UTSW	18	13,979,330 (GRCm39)	nonsense	probably null
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'- TCTCCACAGATAGGGCACATG -3'
(R):5'- TGTGTGTTTGAAACCAAGACCC -3'

Sequencing Primer
(F):5'- CACATGTAGTGTTTGACCGGGC -3'
(R):5'- AACTGTGGCACCAACGG -3'

Posted On

2015-03-18