Mutagenetix > Incidental Mutation

Incidental Mutation 'R5137:Zfp521'

396248

Institutional Source

Beutler Lab

Gene Symbol

Zfp521

Ensembl Gene

ENSMUSG00000024420

Gene Name

zinc finger protein 521

Synonyms

Evi3, B930086A16Rik

MMRRC Submission

042723-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.932) question?

Stock #

R5137 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

13820070-14105812 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 13978505 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 636 (C636F)

Ref Sequence

ENSEMBL: ENSMUSP00000025288 (fasta)

Gene Model

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

AlphaFold

Q6KAS7

Predicted Effect

probably damaging
Transcript: ENSMUST00000025288
AA Change: C636F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000025288
Gene: ENSMUSG00000024420
AA Change: C636F

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: 99.3%
3x: 98.6%
10x: 97.2%
20x: 94.8%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	T	C	3: 36,123,920 (GRCm39)	V75A	probably benign	Het
Ace	G	C	11: 105,865,652 (GRCm39)	W628C	probably damaging	Het
Adh4	T	C	3: 138,127,996 (GRCm39)	S141P	probably benign	Het
Apob	T	C	12: 8,061,384 (GRCm39)	Y3256H	possibly damaging	Het
B3galnt1	G	T	3: 69,482,282 (GRCm39)	N326K	probably benign	Het
Bltp3a	T	G	17: 28,095,964 (GRCm39)		probably null	Het
Catsperb	T	C	12: 101,516,070 (GRCm39)	F569L	probably damaging	Het
Cecr2	A	G	6: 120,732,478 (GRCm39)	I225V	probably benign	Het
Cox5b	A	G	1: 36,731,510 (GRCm39)		probably null	Het
Crybg1	T	C	10: 43,834,332 (GRCm39)	D1953G	probably damaging	Het
Dnaaf5	C	T	5: 139,167,215 (GRCm39)	T707M	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Ebf1	G	A	11: 44,882,295 (GRCm39)	R409Q	probably damaging	Het
Eef2k	G	A	7: 120,484,645 (GRCm39)	A256T	probably damaging	Het
Eef2k	C	A	7: 120,484,646 (GRCm39)	A256D	probably damaging	Het
Evl	C	G	12: 108,647,781 (GRCm39)	T294S	probably benign	Het
Eya2	T	C	2: 165,573,548 (GRCm39)	Y288H	probably damaging	Het
Ezh2	A	T	6: 47,509,014 (GRCm39)		probably null	Het
Fam171a1	T	C	2: 3,226,426 (GRCm39)	Y395H	probably benign	Het
Gas2l3	C	A	10: 89,249,837 (GRCm39)	R427L	probably damaging	Het
Gli2	T	A	1: 118,783,233 (GRCm39)	I91F	probably damaging	Het
Gm4884	T	C	7: 40,692,318 (GRCm39)	S96P	probably damaging	Het
Gprc5d	T	A	6: 135,093,031 (GRCm39)	D292V	probably benign	Het
Herc1	A	G	9: 66,355,505 (GRCm39)	K2252R	probably benign	Het
Il1rl1	A	T	1: 40,489,285 (GRCm39)	M346L	probably benign	Het
Kcna5	A	T	6: 126,510,946 (GRCm39)	V394D	probably damaging	Het
Kcng4	A	T	8: 120,352,617 (GRCm39)	M431K	possibly damaging	Het
Kifbp	A	T	10: 62,414,020 (GRCm39)	V46E	probably damaging	Het
Large1	A	G	8: 73,774,937 (GRCm39)	F258L	possibly damaging	Het
Mapkbp1	T	A	2: 119,852,662 (GRCm39)	C1001S	probably damaging	Het
Micu1	A	G	10: 59,663,054 (GRCm39)	Q328R	probably benign	Het
Mmp11	G	A	10: 75,761,290 (GRCm39)	P437S	probably damaging	Het
Msh6	T	A	17: 88,287,716 (GRCm39)	F119I	possibly damaging	Het
Myo6	A	G	9: 80,149,531 (GRCm39)	E159G	probably damaging	Het
Negr1	T	A	3: 156,721,833 (GRCm39)	Y136N	probably damaging	Het
Nol9	T	A	4: 152,130,428 (GRCm39)	C321S	probably damaging	Het
Nos1	T	C	5: 118,043,378 (GRCm39)	F551S	probably benign	Het
Nup153	C	A	13: 46,837,629 (GRCm39)	G1198C	probably damaging	Het
Omd	T	C	13: 49,743,552 (GRCm39)	S201P	probably benign	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or1e35	T	C	11: 73,797,452 (GRCm39)	I289V	probably damaging	Het
Or4c120	C	A	2: 89,000,744 (GRCm39)	V271F	probably benign	Het
Or51l14	A	G	7: 103,100,919 (GRCm39)	Y125C	probably damaging	Het
Or51l14	C	A	7: 103,100,920 (GRCm39)	Y125*	probably null	Het
Oxct1	G	T	15: 4,064,832 (GRCm39)	A57S	probably benign	Het
Pcdhga7	T	G	18: 37,850,433 (GRCm39)	S813R	probably damaging	Het
Pcmtd2	A	T	2: 181,496,787 (GRCm39)	I255F	possibly damaging	Het
Pdk1	T	G	2: 71,713,913 (GRCm39)	M186R	possibly damaging	Het
Pelp1	T	C	11: 70,285,925 (GRCm39)	T648A	probably damaging	Het
Phldb2	A	T	16: 45,628,621 (GRCm39)	S570R	possibly damaging	Het
Pramel16	T	A	4: 143,675,690 (GRCm39)	T379S	probably benign	Het
Ptprj	T	C	2: 90,299,992 (GRCm39)	T270A	possibly damaging	Het
Reln	C	T	5: 22,160,179 (GRCm39)	G2130D	probably damaging	Het
Rims1	A	T	1: 22,358,844 (GRCm39)	Y663*	probably null	Het
Rit2	T	C	18: 31,286,817 (GRCm39)	T123A	probably benign	Het
Rmdn2	A	T	17: 79,975,418 (GRCm39)	E302D	probably benign	Het
Ryr1	T	C	7: 28,801,283 (GRCm39)	E827G	possibly damaging	Het
Siglec1	C	T	2: 130,923,264 (GRCm39)	G494R	probably damaging	Het
Slc16a14	T	A	1: 84,890,318 (GRCm39)	Y329F	probably damaging	Het
Slc35d1	A	T	4: 103,071,978 (GRCm39)	L8Q	possibly damaging	Het
Smpdl3a	C	T	10: 57,677,163 (GRCm39)	S57L	possibly damaging	Het
Snx9	T	C	17: 5,978,528 (GRCm39)	V566A	probably damaging	Het
Spaca1	A	T	4: 34,029,095 (GRCm39)	I126N	probably damaging	Het
Spred1	T	G	2: 116,994,052 (GRCm39)	I94S	probably damaging	Het
Tardbp	T	C	4: 148,706,494 (GRCm39)	D105G	possibly damaging	Het
Tet2	T	C	3: 133,182,326 (GRCm39)	S1213G	probably benign	Het
Trak1	A	T	9: 121,196,121 (GRCm39)		probably benign	Het
Trem3	G	A	17: 48,556,756 (GRCm39)	V76M	possibly damaging	Het
Ttc13	G	T	8: 125,421,674 (GRCm39)	Y250*	probably null	Het
Ttll5	T	G	12: 85,969,819 (GRCm39)	S714R	possibly damaging	Het
Ube2l6	T	G	2: 84,633,220 (GRCm39)		probably null	Het
Ubr3	T	C	2: 69,803,679 (GRCm39)	S1090P	probably damaging	Het
Vezt	T	C	10: 93,806,372 (GRCm39)	T680A	probably benign	Het
Virma	A	G	4: 11,546,297 (GRCm39)	K1762E	probably damaging	Het
Vps53	A	G	11: 76,057,074 (GRCm39)	S57P	probably damaging	Het
Vwa7	G	T	17: 35,236,822 (GRCm39)	D130Y	probably damaging	Het
Vwa8	T	G	14: 79,302,342 (GRCm39)	F1004V	probably damaging	Het
Zfp35	A	T	18: 24,137,194 (GRCm39)	K513*	probably null	Het
Zfp384	ACAGCAGCAGCAGCAGCAGCAGC	ACAGCAGCAGCAGCAGCAGC	6: 125,013,472 (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
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
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
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'- GGTGAACTGCTTGTCACAGC -3'
(R):5'- TCGCCAATATTCAACAGTGTTC -3'

Sequencing Primer
(F):5'- CAGCTCTCACAGATGTAGTAGG -3'
(R):5'- GCCAATATTCAACAGTGTTCTTAAAC -3'

Posted On

2016-06-21