Mutagenetix > Incidental Mutation

Incidental Mutation 'R7463:Zfp516'

578594

Institutional Source

Beutler Lab

Gene Symbol

Zfp516

Ensembl Gene

ENSMUSG00000058881

Gene Name

zinc finger protein 516

Synonyms

C330029B10Rik, Zfp26l

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.411) question?

Stock #

R7463 (G1)

Quality Score

197.009

Status

Validated

Chromosome

Chromosomal Location

82910879-83005314 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 82957108 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 477 (M477K)

Ref Sequence

ENSEMBL: ENSMUSP00000126629 (fasta)

Gene Model

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

AlphaFold

Q7TSH3

Predicted Effect

probably benign
Transcript: ENSMUST00000071233
AA Change: M477K

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000071216
Gene: ENSMUSG00000058881
AA Change: M477K

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

probably benign
Transcript: ENSMUST00000171238
AA Change: M477K

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000126629
Gene: ENSMUSG00000058881
AA Change: M477K

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.7%

Validation Efficiency

100% (62/62)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	A	T	17: 46,323,772	V435E	probably damaging	Het
Acta2	G	A	19: 34,252,531	T8I	probably benign	Het
Adcy2	T	C	13: 68,730,280	D413G	probably damaging	Het
Adgrg6	T	A	10: 14,434,396	D727V	possibly damaging	Het
Aebp2	C	T	6: 140,637,726	Q309*	probably null	Het
Amy1	A	T	3: 113,569,884	C43*	probably null	Het
Bpifc	T	C	10: 85,979,334	E256G	probably benign	Het
Bysl	A	T	17: 47,602,471	S296T	probably benign	Het
Carmil3	C	T	14: 55,502,396	P980L	probably damaging	Het
Coch	T	A	12: 51,593,625	M1K	probably null	Het
Cpt2	A	T	4: 107,908,157	F137I	probably damaging	Het
Crem	T	C	18: 3,295,094	I112V	probably benign	Het
Cul9	A	G	17: 46,520,476		probably null	Het
Cyp3a41a	T	A	5: 145,713,564	I90F	probably damaging	Het
Cyp4f16	C	T	17: 32,550,787	A457V	possibly damaging	Het
Ddx6	A	G	9: 44,628,729	E318G	probably damaging	Het
Dip2b	A	G	15: 100,154,157	E213G	probably benign	Het
Dlx5	T	C	6: 6,878,316	H238R	probably damaging	Het
Dnaic2	A	C	11: 114,754,406	I556L	probably benign	Het
Dnmt1	C	T	9: 20,912,225	V1147M	possibly damaging	Het
Egf	G	T	3: 129,740,015	Q59K	probably benign	Het
Ermp1	A	T	19: 29,646,262	Y109*	probably null	Het
Fer1l6	T	A	15: 58,573,601	Y573*	probably null	Het
Fmnl1	T	C	11: 103,193,128	L503P	probably damaging	Het
Gnptab	T	G	10: 88,431,389	I447M	probably damaging	Het
Hgf	G	A	5: 16,578,450	D253N	probably benign	Het
Hjurp	CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT	C	1: 88,266,277		probably benign	Het
Igf2r	T	C	17: 12,710,645	T958A	probably benign	Het
Kcnd2	T	A	6: 21,216,498	L67Q	probably damaging	Het
Kif5a	A	G	10: 127,243,724	V248A	probably damaging	Het
Krt33b	A	G	11: 100,029,563	I88T	probably damaging	Het
Lhx2	G	A	2: 38,351,846	E25K	possibly damaging	Het
Mex3d	C	T	10: 80,381,698	G562R		Het
Myom2	A	T	8: 15,117,679	Y1088F	probably null	Het
Ncapg	T	A	5: 45,694,092		probably null	Het
Nudc	A	C	4: 133,534,403	V190G	possibly damaging	Het
Obscn	G	T	11: 59,122,860	R1054S	probably benign	Het
Olfr1045	T	C	2: 86,197,838	M305V	probably benign	Het
Olfr1510	A	G	14: 52,410,711	W54R	probably benign	Het
Olfr651	T	C	7: 104,553,482	S188P	possibly damaging	Het
Olfr683	T	A	7: 105,143,937	M119L	probably benign	Het
Olfr710	A	T	7: 106,944,173	V276E	probably damaging	Het
Olfr979	A	G	9: 40,000,564	V221A	probably benign	Het
Pcdh10	A	T	3: 45,383,572	R891S	possibly damaging	Het
Pcdh15	C	T	10: 74,631,770	S1873L	possibly damaging	Het
Pcdh7	A	G	5: 57,720,998	K632E	probably benign	Het
Pcdhgb8	G	A	18: 37,763,427	A517T	probably damaging	Het
Ptgr2	A	T	12: 84,292,298		probably benign	Het
Ptpn18	G	A	1: 34,473,364	D417N	possibly damaging	Het
Racgap1	T	A	15: 99,642,958	T4S	probably benign	Het
Rb1cc1	A	G	1: 6,249,180	H941R	probably benign	Het
Reln	T	C	5: 22,103,435	H312R	probably damaging	Het
Rnf166	T	A	8: 122,467,987	H208L	probably damaging	Het
Theg	T	C	10: 79,576,715	E314G	probably damaging	Het
Timeless	T	C	10: 128,250,426	S999P	probably benign	Het
Tmem94	G	T	11: 115,786,256	R118L	possibly damaging	Het
Tor1aip1	A	T	1: 156,007,609	H349Q	possibly damaging	Het
Ttn	T	A	2: 76,920,460	E3415V	probably benign	Het
Vmn2r102	A	T	17: 19,676,624	N78Y	probably damaging	Het
Wdr11	A	T	7: 129,607,086	D427V	probably damaging	Het
Zer1	A	T	2: 30,113,437		probably benign	Het

Other mutations in Zfp516

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00434:Zfp516	APN	18	82957108	missense	probably benign	0.08
IGL01343:Zfp516	APN	18	82993096	missense	probably damaging	0.99
IGL01413:Zfp516	APN	18	82987670	nonsense	probably null
IGL01684:Zfp516	APN	18	82957201	missense	probably damaging	1.00
IGL01820:Zfp516	APN	18	82987361	missense	probably benign	0.00
IGL02081:Zfp516	APN	18	82955733	missense	probably benign	0.00
IGL02209:Zfp516	APN	18	82994497	missense	probably benign
IGL02253:Zfp516	APN	18	82994497	missense	probably benign
IGL03028:Zfp516	APN	18	82955913	missense	possibly damaging	0.95
IGL03241:Zfp516	APN	18	82987520	missense	probably benign	0.01
R0379:Zfp516	UTSW	18	82987670	nonsense	probably null
R0426:Zfp516	UTSW	18	82955772	missense	probably benign	0.04
R0466:Zfp516	UTSW	18	82957454	splice site	probably null
R0715:Zfp516	UTSW	18	82987263	missense	probably damaging	1.00
R1574:Zfp516	UTSW	18	82993175	missense	possibly damaging	0.93
R1574:Zfp516	UTSW	18	82993175	missense	possibly damaging	0.93
R2110:Zfp516	UTSW	18	82957411	missense	probably damaging	0.99
R2112:Zfp516	UTSW	18	82957411	missense	probably damaging	0.99
R2162:Zfp516	UTSW	18	82986938	missense	possibly damaging	0.95
R2223:Zfp516	UTSW	18	82955770	missense	possibly damaging	0.94
R4097:Zfp516	UTSW	18	82987256	missense	possibly damaging	0.95
R4299:Zfp516	UTSW	18	82987497	missense	possibly damaging	0.80
R4378:Zfp516	UTSW	18	82987180	missense	probably benign	0.00
R4601:Zfp516	UTSW	18	82956039	missense	probably benign	0.14
R4721:Zfp516	UTSW	18	82957111	missense	possibly damaging	0.49
R4946:Zfp516	UTSW	18	82956094	missense	probably benign	0.06
R5186:Zfp516	UTSW	18	82957093	missense	probably benign
R5351:Zfp516	UTSW	18	82956751	missense	probably benign	0.00
R5937:Zfp516	UTSW	18	82956833	missense	probably damaging	0.99
R5998:Zfp516	UTSW	18	82956514	missense	probably damaging	1.00
R6458:Zfp516	UTSW	18	82987350	missense	probably benign	0.03
R6513:Zfp516	UTSW	18	82955710	missense	probably damaging	1.00
R6626:Zfp516	UTSW	18	82988107	missense	probably damaging	1.00
R6712:Zfp516	UTSW	18	82957308	missense	probably damaging	1.00
R6877:Zfp516	UTSW	18	82955791	missense	probably damaging	1.00
R6886:Zfp516	UTSW	18	82957000	missense	probably benign	0.06
R7073:Zfp516	UTSW	18	82988200	critical splice donor site	probably null
R7863:Zfp516	UTSW	18	83001328	missense	probably benign	0.00
R8097:Zfp516	UTSW	18	82987170	nonsense	probably null
R8244:Zfp516	UTSW	18	82956333	missense	probably damaging	1.00
R8245:Zfp516	UTSW	18	82956333	missense	probably damaging	1.00
R8362:Zfp516	UTSW	18	82986894	missense	probably benign	0.01
R8410:Zfp516	UTSW	18	82956333	missense	probably damaging	1.00
R8780:Zfp516	UTSW	18	82987955	missense	probably benign
R8791:Zfp516	UTSW	18	82957335	missense	probably damaging	1.00
R9066:Zfp516	UTSW	18	82955839	missense	probably damaging	1.00
R9556:Zfp516	UTSW	18	82956840	missense	probably benign	0.00
X0019:Zfp516	UTSW	18	82987488	missense	probably damaging	1.00
X0065:Zfp516	UTSW	18	82987169	missense	probably damaging	1.00
Z1176:Zfp516	UTSW	18	82987533	missense	probably benign	0.01
Z1177:Zfp516	UTSW	18	82956066	missense	probably damaging	1.00
Z1177:Zfp516	UTSW	18	82956067	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TACCTCAAGTACGGGACCTG -3'
(R):5'- CTACACGGGGTACTTGAACC -3'

Sequencing Primer
(F):5'- CAAGTACGGGACCTGGGACG -3'
(R):5'- GGGTACTTGAACCTCATCCG -3'

Posted On

2019-10-07