Mutagenetix > Incidental Mutation

Incidental Mutation 'R4721:Zfp516'

354504

Institutional Source

Beutler Lab

Gene Symbol

Zfp516

Ensembl Gene

ENSMUSG00000058881

Gene Name

zinc finger protein 516

Synonyms

Zfp26l, C330029B10Rik

MMRRC Submission

041986-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.298) question?

Stock #

R4721 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

82928788-83023439 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 82975236 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 478 (L478R)

Ref Sequence

ENSEMBL: ENSMUSP00000126629 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071233] [ENSMUST00000171238]

AlphaFold

Q7TSH3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000071233
AA Change: L478R

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000071216
Gene: ENSMUSG00000058881
AA Change: L478R

Domain	Start	End	E-Value	Type
low complexity region	12	23	N/A	INTRINSIC
ZnF_C2H2	34	56	1.03e-2	SMART
ZnF_C2H2	62	84	3.95e-4	SMART
ZnF_C2H2	162	185	8.09e-1	SMART
ZnF_C2H2	188	211	1.76e-1	SMART
ZnF_C2H2	236	258	3.16e-3	SMART
ZnF_C2H2	264	286	3.34e-2	SMART
ZnF_C2H2	323	345	2.63e0	SMART
ZnF_C2H2	504	526	5.72e-1	SMART
low complexity region	527	544	N/A	INTRINSIC
ZnF_C2H2	753	776	2.97e1	SMART
low complexity region	834	846	N/A	INTRINSIC
ZnF_C2H2	1092	1114	1.12e-3	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000171238
AA Change: L478R

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000126629
Gene: ENSMUSG00000058881
AA Change: L478R

Domain	Start	End	E-Value	Type
low complexity region	12	23	N/A	INTRINSIC
ZnF_C2H2	34	56	1.03e-2	SMART
ZnF_C2H2	62	84	3.95e-4	SMART
ZnF_C2H2	162	185	8.09e-1	SMART
ZnF_C2H2	188	211	1.76e-1	SMART
ZnF_C2H2	236	258	3.16e-3	SMART
ZnF_C2H2	264	286	3.34e-2	SMART
ZnF_C2H2	323	345	2.63e0	SMART
ZnF_C2H2	504	526	5.72e-1	SMART
low complexity region	527	544	N/A	INTRINSIC
ZnF_C2H2	753	776	2.97e1	SMART
low complexity region	834	846	N/A	INTRINSIC
ZnF_C2H2	1092	1114	1.12e-3	SMART

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

98% (90/92)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Zinc-finger proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation, and apoptosis. This gene encodes a zinc-finger protein, and belongs to the krueppel C2H2-type zinc-finger protein family. It may be involved in transcriptional regulation. [provided by RefSeq, Sep 2012]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	C	14: 32,385,107 (GRCm39)	D286G	probably benign	Het
Abca15	G	A	7: 119,949,998 (GRCm39)	E491K	probably benign	Het
Acsl5	A	G	19: 55,268,962 (GRCm39)	T208A	probably benign	Het
Adamts10	T	A	17: 33,764,511 (GRCm39)		probably null	Het
Ahcyl1	T	C	3: 107,577,233 (GRCm39)	Q313R	possibly damaging	Het
Ccdc71	C	T	9: 108,340,622 (GRCm39)	S145L	possibly damaging	Het
Cep250	A	G	2: 155,812,119 (GRCm39)	T472A	probably damaging	Het
Copa	T	C	1: 171,931,841 (GRCm39)		probably benign	Het
Crybg1	C	A	10: 43,873,883 (GRCm39)	R1075L	probably damaging	Het
Ddr2	T	A	1: 169,832,809 (GRCm39)	K84*	probably null	Het
Ddx59	C	T	1: 136,344,844 (GRCm39)	P172S	probably benign	Het
Dhx34	T	A	7: 15,931,307 (GRCm39)	Q1118L	possibly damaging	Het
Dkkl1	T	A	7: 44,857,232 (GRCm39)	I112F	probably damaging	Het
Dnah8	T	A	17: 30,944,140 (GRCm39)	C1786S	probably damaging	Het
Eml6	T	A	11: 29,788,525 (GRCm39)	D520V	possibly damaging	Het
Ergic1	T	A	17: 26,857,750 (GRCm39)	V192E	probably damaging	Het
Fat3	T	C	9: 15,941,262 (GRCm39)	E1343G	probably damaging	Het
Fxr1	T	C	3: 34,118,381 (GRCm39)	S535P	possibly damaging	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Gm15446	C	T	5: 110,090,866 (GRCm39)	H373Y	probably damaging	Het
Gpr157	A	T	4: 150,183,420 (GRCm39)	N197Y	probably benign	Het
Grid2	G	A	6: 64,643,185 (GRCm39)	M982I	probably benign	Het
Hey2	G	T	10: 30,710,304 (GRCm39)	R150S	possibly damaging	Het
Hmcn1	T	C	1: 150,648,322 (GRCm39)		probably null	Het
Ighv3-3	G	A	12: 114,160,156 (GRCm39)	R85*	probably null	Het
Ighv5-4	A	T	12: 113,561,060 (GRCm39)		probably benign	Het
Igsf21	A	G	4: 139,834,621 (GRCm39)	S84P	probably benign	Het
Kif20b	A	G	19: 34,915,773 (GRCm39)	T517A	probably benign	Het
Krt87	T	C	15: 101,385,863 (GRCm39)	E244G	probably damaging	Het
Lrp1	T	C	10: 127,390,928 (GRCm39)	T2990A	possibly damaging	Het
Lrp1b	T	A	2: 40,605,381 (GRCm39)		probably null	Het
Lrrc42	A	T	4: 107,091,050 (GRCm39)	S382T	probably benign	Het
Magi2	C	T	5: 20,739,467 (GRCm39)	R737W	probably damaging	Het
Mcc	A	G	18: 44,652,623 (GRCm39)	L267P	probably damaging	Het
Mzf1	T	A	7: 12,777,223 (GRCm39)	Q727L	possibly damaging	Het
Mzf1	C	T	7: 12,777,448 (GRCm39)	R652Q	possibly damaging	Het
Nkain3	C	T	4: 20,485,015 (GRCm39)	A21T	probably damaging	Het
Nlrp4e	T	A	7: 23,020,521 (GRCm39)	V336E	possibly damaging	Het
Nptn	C	T	9: 58,548,059 (GRCm39)	R155C	probably damaging	Het
Nr2c2	T	C	6: 92,116,828 (GRCm39)	I10T	possibly damaging	Het
Or12e13	T	A	2: 87,663,515 (GRCm39)	I44N	probably damaging	Het
Or1e26	C	T	11: 73,480,273 (GRCm39)	C97Y	probably damaging	Het
Or1j13	T	C	2: 36,369,836 (GRCm39)	Y102C	probably benign	Het
Pdzk1	G	T	3: 96,776,518 (GRCm39)	E493*	probably null	Het
Plekhh1	GTCAAA	G	12: 79,122,194 (GRCm39)		probably null	Het
Polr3b	T	C	10: 84,491,867 (GRCm39)	V342A	possibly damaging	Het
Prg3	T	C	2: 84,821,750 (GRCm39)	V125A	possibly damaging	Het
Raph1	G	A	1: 60,542,160 (GRCm39)		probably benign	Het
Rassf2	A	G	2: 131,846,358 (GRCm39)	V133A	probably benign	Het
Rbm22	G	A	18: 60,697,463 (GRCm39)	R56H	probably damaging	Het
Rbpjl	A	C	2: 164,246,447 (GRCm39)	S31R	probably benign	Het
Reln	A	G	5: 22,124,220 (GRCm39)	V2762A	probably damaging	Het
Rxrg	T	A	1: 167,452,621 (GRCm39)	I141N	probably damaging	Het
Scn7a	C	A	2: 66,514,529 (GRCm39)	G1082C	probably damaging	Het
Selenon	C	A	4: 134,270,387 (GRCm39)	E322*	probably null	Het
Sipa1	C	T	19: 5,710,413 (GRCm39)	R199Q	probably damaging	Het
Slc26a7	A	T	4: 14,510,261 (GRCm39)		probably null	Het
Slc37a4	T	C	9: 44,312,787 (GRCm39)	S314P	possibly damaging	Het
Smarce1	T	C	11: 99,111,543 (GRCm39)	I59V	probably benign	Het
Stk19	T	C	17: 35,042,120 (GRCm39)		probably null	Het
Susd2	C	T	10: 75,473,964 (GRCm39)	D544N	probably benign	Het
Tcf7l2	G	T	19: 55,919,886 (GRCm39)	R465L	possibly damaging	Het
Tfap2d	T	A	1: 19,174,984 (GRCm39)	S146T	possibly damaging	Het
Tmem156	A	G	5: 65,248,870 (GRCm39)	F10S	probably benign	Het
Tmem63c	G	T	12: 87,103,954 (GRCm39)	A68S	possibly damaging	Het
Tnfrsf21	T	C	17: 43,396,395 (GRCm39)	C560R	probably damaging	Het
Trav10n	C	T	14: 53,359,590 (GRCm39)	T7I	probably benign	Het
Ttc38	C	T	15: 85,722,947 (GRCm39)	R132W	probably benign	Het
Tvp23a	T	C	16: 10,245,275 (GRCm39)	K108R	probably benign	Het
Vmn1r233	T	C	17: 21,214,879 (GRCm39)	M24V	probably benign	Het
Vmn1r88	T	A	7: 12,912,451 (GRCm39)	L269*	probably null	Het
Vmn2r101	T	A	17: 19,832,287 (GRCm39)	M761K	probably damaging	Het
Vps13b	C	T	15: 35,910,864 (GRCm39)	Q3543*	probably null	Het
Wdr37	T	C	13: 8,904,065 (GRCm39)	E101G	possibly damaging	Het
Zc3hc1	A	G	6: 30,374,899 (GRCm39)	V214A	probably benign	Het
Zcchc9	A	T	13: 91,948,728 (GRCm39)		probably null	Het
Zdbf2	A	T	1: 63,347,951 (GRCm39)	Q2110L	possibly damaging	Het

Other mutations in Zfp516

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00434:Zfp516	APN	18	82,975,233 (GRCm39)	missense	probably benign	0.08
IGL01343:Zfp516	APN	18	83,011,221 (GRCm39)	missense	probably damaging	0.99
IGL01413:Zfp516	APN	18	83,005,795 (GRCm39)	nonsense	probably null
IGL01684:Zfp516	APN	18	82,975,326 (GRCm39)	missense	probably damaging	1.00
IGL01820:Zfp516	APN	18	83,005,486 (GRCm39)	missense	probably benign	0.00
IGL02081:Zfp516	APN	18	82,973,858 (GRCm39)	missense	probably benign	0.00
IGL02209:Zfp516	APN	18	83,012,622 (GRCm39)	missense	probably benign
IGL02253:Zfp516	APN	18	83,012,622 (GRCm39)	missense	probably benign
IGL03028:Zfp516	APN	18	82,974,038 (GRCm39)	missense	possibly damaging	0.95
IGL03241:Zfp516	APN	18	83,005,645 (GRCm39)	missense	probably benign	0.01
R0379:Zfp516	UTSW	18	83,005,795 (GRCm39)	nonsense	probably null
R0426:Zfp516	UTSW	18	82,973,897 (GRCm39)	missense	probably benign	0.04
R0466:Zfp516	UTSW	18	82,975,579 (GRCm39)	splice site	probably null
R0715:Zfp516	UTSW	18	83,005,388 (GRCm39)	missense	probably damaging	1.00
R1574:Zfp516	UTSW	18	83,011,300 (GRCm39)	missense	possibly damaging	0.93
R1574:Zfp516	UTSW	18	83,011,300 (GRCm39)	missense	possibly damaging	0.93
R2110:Zfp516	UTSW	18	82,975,536 (GRCm39)	missense	probably damaging	0.99
R2112:Zfp516	UTSW	18	82,975,536 (GRCm39)	missense	probably damaging	0.99
R2162:Zfp516	UTSW	18	83,005,063 (GRCm39)	missense	possibly damaging	0.95
R2223:Zfp516	UTSW	18	82,973,895 (GRCm39)	missense	possibly damaging	0.94
R4097:Zfp516	UTSW	18	83,005,381 (GRCm39)	missense	possibly damaging	0.95
R4299:Zfp516	UTSW	18	83,005,622 (GRCm39)	missense	possibly damaging	0.80
R4378:Zfp516	UTSW	18	83,005,305 (GRCm39)	missense	probably benign	0.00
R4601:Zfp516	UTSW	18	82,974,164 (GRCm39)	missense	probably benign	0.14
R4946:Zfp516	UTSW	18	82,974,219 (GRCm39)	missense	probably benign	0.06
R5186:Zfp516	UTSW	18	82,975,218 (GRCm39)	missense	probably benign
R5351:Zfp516	UTSW	18	82,974,876 (GRCm39)	missense	probably benign	0.00
R5937:Zfp516	UTSW	18	82,974,958 (GRCm39)	missense	probably damaging	0.99
R5998:Zfp516	UTSW	18	82,974,639 (GRCm39)	missense	probably damaging	1.00
R6458:Zfp516	UTSW	18	83,005,475 (GRCm39)	missense	probably benign	0.03
R6513:Zfp516	UTSW	18	82,973,835 (GRCm39)	missense	probably damaging	1.00
R6626:Zfp516	UTSW	18	83,006,232 (GRCm39)	missense	probably damaging	1.00
R6712:Zfp516	UTSW	18	82,975,433 (GRCm39)	missense	probably damaging	1.00
R6877:Zfp516	UTSW	18	82,973,916 (GRCm39)	missense	probably damaging	1.00
R6886:Zfp516	UTSW	18	82,975,125 (GRCm39)	missense	probably benign	0.06
R7073:Zfp516	UTSW	18	83,006,325 (GRCm39)	critical splice donor site	probably null
R7463:Zfp516	UTSW	18	82,975,233 (GRCm39)	missense	probably benign	0.08
R7863:Zfp516	UTSW	18	83,019,453 (GRCm39)	missense	probably benign	0.00
R8097:Zfp516	UTSW	18	83,005,295 (GRCm39)	nonsense	probably null
R8244:Zfp516	UTSW	18	82,974,458 (GRCm39)	missense	probably damaging	1.00
R8245:Zfp516	UTSW	18	82,974,458 (GRCm39)	missense	probably damaging	1.00
R8362:Zfp516	UTSW	18	83,005,019 (GRCm39)	missense	probably benign	0.01
R8410:Zfp516	UTSW	18	82,974,458 (GRCm39)	missense	probably damaging	1.00
R8780:Zfp516	UTSW	18	83,006,080 (GRCm39)	missense	probably benign
R8791:Zfp516	UTSW	18	82,975,460 (GRCm39)	missense	probably damaging	1.00
R9066:Zfp516	UTSW	18	82,973,964 (GRCm39)	missense	probably damaging	1.00
R9556:Zfp516	UTSW	18	82,974,965 (GRCm39)	missense	probably benign	0.00
X0019:Zfp516	UTSW	18	83,005,613 (GRCm39)	missense	probably damaging	1.00
X0065:Zfp516	UTSW	18	83,005,294 (GRCm39)	missense	probably damaging	1.00
Z1176:Zfp516	UTSW	18	83,005,658 (GRCm39)	missense	probably benign	0.01
Z1177:Zfp516	UTSW	18	82,974,192 (GRCm39)	missense	probably damaging	1.00
Z1177:Zfp516	UTSW	18	82,974,191 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCTAGCTACCAGGGGTAAG -3'
(R):5'- GGTACTTGAACCTCATCCGC -3'

Sequencing Primer
(F):5'- CTACCAGGGGTAAGGTGGCTG -3'
(R):5'- AGTCACCCTCGCTGAGTGAAC -3'

Posted On

2015-10-21