Mutagenetix > Incidental Mutations

Incidental Mutation 'R3950:Zfp521'

307906

Institutional Source

Beutler Lab

Gene Symbol

Zfp521

Ensembl Gene

ENSMUSG00000024420

Gene Name

zinc finger protein 521

Synonyms

B930086A16Rik, Evi3

MMRRC Submission

040930-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.933) question?

Stock #

R3950 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

13687013-13972733 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 13846346 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 337 (S337P)

Ref Sequence

ENSEMBL: ENSMUSP00000025288 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000025288
AA Change: S337P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000025288
Gene: ENSMUSG00000024420
AA Change: S337P

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

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	T	C	2: 68,664,403		probably null	Het
Ahnak2	A	T	12: 112,785,789	I186N	probably damaging	Het
Appbp2	A	G	11: 85,194,706	I458T	probably damaging	Het
Arhgef25	T	C	10: 127,185,144	Y291C	probably damaging	Het
Ate1	T	C	7: 130,467,292	Y415C	probably damaging	Het
B4galt4	G	T	16: 38,768,022	A72S	probably benign	Het
C3	T	C	17: 57,225,286	R178G	probably benign	Het
Cdh23	T	C	10: 60,657,326	Y3C	probably benign	Het
Col11a1	T	C	3: 114,121,445		probably null	Het
Col22a1	A	G	15: 71,977,358	F294L	possibly damaging	Het
Dera	A	G	6: 137,837,120	Y100C	probably damaging	Het
Dync2h1	A	T	9: 7,112,061	Y276*	probably null	Het
Eea1	A	T	10: 96,042,134	N1389I	probably damaging	Het
Epha4	A	T	1: 77,399,716	Y509N	probably damaging	Het
Fat3	G	A	9: 15,998,271	S2145F	probably damaging	Het
Fezf1	T	A	6: 23,247,420	K219*	probably null	Het
Fsd1	G	A	17: 55,995,517		probably null	Het
Haspin	A	G	11: 73,136,395	Y623H	probably damaging	Het
Hsd3b1	C	T	3: 98,856,138	V56M	possibly damaging	Het
Hyou1	C	T	9: 44,385,227	T483I	probably damaging	Het
Kdm2a	A	G	19: 4,343,232	L365S	possibly damaging	Het
Kdm6b	G	T	11: 69,405,615	P609T	probably damaging	Het
Klhl18	T	A	9: 110,428,902	Y490F	probably damaging	Het
Ky	C	T	9: 102,542,428	Q545*	probably null	Het
L1td1	T	C	4: 98,737,353	L595P	probably benign	Het
Map3k20	T	G	2: 72,438,300	I550M	probably damaging	Het
Mug1	T	A	6: 121,878,530	V941E	probably damaging	Het
Ndst1	T	C	18: 60,697,139	N633S	probably benign	Het
Ninl	A	T	2: 150,952,488	I740K	possibly damaging	Het
Npepl1	A	G	2: 174,121,113	N431D	probably damaging	Het
Olfr1128	T	C	2: 87,545,065	T160A	probably damaging	Het
Pacs2	T	C	12: 113,061,113	S408P	probably damaging	Het
Pard6b	C	T	2: 168,099,194	T367I	probably damaging	Het
Pcdhga7	A	G	18: 37,716,515	E525G	probably damaging	Het
Pctp	A	G	11: 89,987,318	I130T	probably benign	Het
Pcx	C	T	19: 4,617,967	H506Y	probably benign	Het
Pdhx	A	G	2: 103,035,241	S199P	probably damaging	Het
Pdia2	C	A	17: 26,197,616		probably null	Het
Pif1	C	A	9: 65,591,834	N445K	probably damaging	Het
Prickle4	T	C	17: 47,688,582	K349E	probably benign	Het
Ptch1	T	G	13: 63,524,959	E944A	probably benign	Het
Ptpdc1	A	T	13: 48,589,194	M173K	probably damaging	Het
Rb1	A	G	14: 73,262,662	L515P	probably damaging	Het
Rcvrn	A	G	11: 67,700,051	K154E	probably damaging	Het
Ros1	C	T	10: 52,066,388	V2059I	probably damaging	Het
Rtn4ip1	T	A	10: 43,909,897		probably null	Het
Sema5a	T	C	15: 32,689,338	Y1050H	probably damaging	Het
Slc25a28	C	T	19: 43,664,269	V318I	probably benign	Het
Srek1	G	A	13: 103,744,895	R408W	unknown	Het
Synrg	C	T	11: 83,989,815	T444I	probably damaging	Het
Ticrr	T	C	7: 79,682,069	L776S	probably damaging	Het
Tmem127	T	C	2: 127,248,657	L31P	probably damaging	Het
Tmprss15	T	A	16: 79,073,186	T190S	probably benign	Het
Trip10	T	A	17: 57,253,411		probably null	Het
Ttc6	A	G	12: 57,649,506	Y31C	probably damaging	Het
Unc80	A	T	1: 66,622,570	H1718L	possibly damaging	Het
Zbtb38	A	G	9: 96,687,546	F495S	probably damaging	Het
Zfp280d	G	T	9: 72,296,019	Q16H	possibly damaging	Het
Zswim9	T	A	7: 13,261,577	T218S	possibly 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
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
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
Z1176:Zfp521	UTSW	18	13715163	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCATATCGGAGGTCTGCTG -3'
(R):5'- GACCTCCAGAAGCACATTGC -3'

Sequencing Primer
(F):5'- AGAGGTTCGAGTCTGGAG -3'
(R):5'- CGAGTGCTCCCCTAATGAG -3'

Posted On

2015-04-17