Mutagenetix > Incidental Mutation

Incidental Mutation 'R0197:Zfp521'

23522

Institutional Source

Beutler Lab

Gene Symbol

Zfp521

Ensembl Gene

ENSMUSG00000024420

Gene Name

zinc finger protein 521

Synonyms

B930086A16Rik, Evi3

MMRRC Submission

038456-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.926) question?

Stock #

R0197 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

13687013-13972733 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 13845062 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 765 (T765A)

Ref Sequence

ENSEMBL: ENSMUSP00000025288 (fasta)

Gene Model

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

AlphaFold

Q6KAS7

Predicted Effect

probably benign
Transcript: ENSMUST00000025288
AA Change: T765A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000025288
Gene: ENSMUSG00000024420
AA Change: T765A

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

0.0635

Coding Region Coverage

1x: 98.6%
3x: 97.3%
10x: 92.5%
20x: 75.9%

Validation Efficiency

97% (121/125)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 138,069,871	L1607P	probably damaging	Het
1700016H13Rik	T	C	5: 103,648,821	*118W	probably null	Het
1700061G19Rik	A	T	17: 56,883,835	N468Y	probably benign	Het
2610507B11Rik	A	C	11: 78,269,704		probably benign	Het
4930452B06Rik	C	T	14: 8,518,695	G254R	probably damaging	Het
Abcc2	A	T	19: 43,826,614	R1147*	probably null	Het
Agap2	A	G	10: 127,091,702	T1131A	possibly damaging	Het
Aldh9a1	A	G	1: 167,361,847	D388G	probably damaging	Het
Ap3d1	G	T	10: 80,730,042	A97E	probably damaging	Het
Arhgef10	T	A	8: 14,962,636	V320E	probably damaging	Het
Baiap2l1	C	A	5: 144,266,010	V498L	probably damaging	Het
Ccdc189	T	C	7: 127,584,862	E261G	probably damaging	Het
Cdh2	T	C	18: 16,629,576	N437S	probably benign	Het
Chd1	C	A	17: 15,725,431	N72K	probably benign	Het
Col4a3bp	T	A	13: 96,549,287	Y63N	probably benign	Het
Cstf2t	A	T	19: 31,084,626	M521L	probably benign	Het
Dlx5	T	C	6: 6,881,619	K90E	possibly damaging	Het
Dmp1	A	G	5: 104,207,630	E32G	possibly damaging	Het
Espnl	T	G	1: 91,344,489	Y524D	probably damaging	Het
Fam20c	T	C	5: 138,755,724	L30P	probably damaging	Het
Fat1	G	T	8: 45,026,553	A2879S	probably benign	Het
Gabrg1	A	T	5: 70,774,389	V337D	probably damaging	Het
Gart	C	A	16: 91,623,403	D851Y	possibly damaging	Het
Gcc1	T	C	6: 28,420,616	H234R	probably damaging	Het
Gemin6	T	A	17: 80,228,095	H161Q	probably damaging	Het
Glt6d1	A	G	2: 25,794,070	I308T	probably benign	Het
Gm10320	T	C	13: 98,491,983	T7A	probably benign	Het
Gm10912	T	C	2: 104,066,530	S5P	probably benign	Het
Gm13088	C	T	4: 143,656,440	E70K	possibly damaging	Het
Gmpr2	T	A	14: 55,672,735	D7E	possibly damaging	Het
Hc	A	G	2: 34,984,750	Y1620H	probably damaging	Het
Hoxa3	T	C	6: 52,170,143		probably benign	Het
Ift140	A	G	17: 25,090,933	T1105A	probably benign	Het
Kdr	G	T	5: 75,968,422	T188N	possibly damaging	Het
Lepr	A	T	4: 101,752,152	D312V	possibly damaging	Het
Mcm3	A	G	1: 20,810,105	V501A	probably damaging	Het
Mcur1	T	C	13: 43,545,740	Y267C	probably damaging	Het
Med13	T	A	11: 86,307,038	T736S	probably benign	Het
Med13l	T	C	5: 118,671,002		probably benign	Het
Mroh2a	G	C	1: 88,246,042	A871P	probably damaging	Het
Ndrg2	T	A	14: 51,907,003		probably benign	Het
Oas3	G	A	5: 120,756,145	R39C	probably damaging	Het
Olfr1258	A	G	2: 89,930,201	T131A	probably benign	Het
Olfr1298	C	T	2: 111,645,791	V69I	probably benign	Het
Olfr272	G	A	4: 52,910,849	T315M	probably benign	Het
Olfr558	T	A	7: 102,709,995	H245Q	probably damaging	Het
Onecut2	T	A	18: 64,341,472	S365T	possibly damaging	Het
Pds5b	C	A	5: 150,754,431	Q505K	probably benign	Het
Rfx2	T	C	17: 56,803,722	Y88C	probably damaging	Het
Rpl6	T	C	5: 121,208,478	V214A	probably benign	Het
Samd3	T	A	10: 26,271,854	C476S	possibly damaging	Het
Sfi1	TCGC	TC	11: 3,146,254		probably null	Het
Shank1	C	T	7: 44,352,294	R1146W	unknown	Het
Smcr8	T	C	11: 60,778,115	Y30H	probably damaging	Het
Smpd4	T	A	16: 17,641,597		probably null	Het
Strip1	C	A	3: 107,614,613	D750Y	probably damaging	Het
Svep1	T	C	4: 58,070,851	K2312E	possibly damaging	Het
Taf1c	A	T	8: 119,599,983	I438N	probably damaging	Het
Tnfaip1	A	T	11: 78,530,014		probably benign	Het
Unc45b	T	A	11: 82,940,205	L797Q	possibly damaging	Het
Usp24	T	A	4: 106,407,133	W1754R	probably damaging	Het
Utp20	G	A	10: 88,777,516	P1301L	probably benign	Het
Vmn2r115	T	A	17: 23,359,781	S743T	probably damaging	Het
Vps41	T	G	13: 18,854,663		probably null	Het
Vps72	G	T	3: 95,122,583	L304F	probably damaging	Het
Wiz	A	T	17: 32,356,441	I907N	probably damaging	Het
Zfp616	A	T	11: 74,085,674	H923L	probably damaging	Het
Zp2	A	T	7: 120,143,576		probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- ACACACAGTGTTTCTCCCGCAG -3'
(R):5'- TGTGACAAGCAGTTCACCTCCG -3'

Sequencing Primer
(F):5'- TGCTTCTCCAGCAGGATGAC -3'
(R):5'- GTGGATGACCTCCAGAAGCAC -3'

Posted On

2013-04-16