Mutagenetix > Incidental Mutation

Incidental Mutation 'R4601:Zfp516'

345677

Institutional Source

Beutler Lab

Gene Symbol

Zfp516

Ensembl Gene

ENSMUSG00000058881

Gene Name

zinc finger protein 516

Synonyms

Zfp26l, C330029B10Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.322) question?

Stock #

R4601 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

82928788-83023439 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 82974164 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 121 (T121A)

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: T121A

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000071216
Gene: ENSMUSG00000058881
AA Change: T121A

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: T121A

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000126629
Gene: ENSMUSG00000058881
AA Change: T121A

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: 99.3%
3x: 98.7%
10x: 97.1%
20x: 94.5%

Validation Efficiency

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	T	A	17: 45,827,847 (GRCm39)	D555E	probably damaging	Het
Abca16	T	G	7: 120,035,920 (GRCm39)	F334L	probably damaging	Het
Abcc4	T	A	14: 118,869,575 (GRCm39)	M186L	probably benign	Het
Agap3	T	C	5: 24,681,406 (GRCm39)	L120P	probably damaging	Het
Ak7	G	A	12: 105,679,834 (GRCm39)	V123M	probably benign	Het
Aldh1a7	A	T	19: 20,693,343 (GRCm39)	V192D	probably damaging	Het
Ankrd36	A	G	11: 5,520,102 (GRCm39)	D59G	probably benign	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Cacna1e	A	G	1: 154,347,359 (GRCm39)	V936A	probably benign	Het
Camkv	T	C	9: 107,823,295 (GRCm39)	V107A	probably damaging	Het
Camp	T	C	9: 109,677,730 (GRCm39)	E80G	probably damaging	Het
Cblif	A	C	19: 11,729,554 (GRCm39)	D171A	probably damaging	Het
Ccdc66	T	C	14: 27,222,377 (GRCm39)	N122S	probably damaging	Het
Cd101	G	A	3: 100,901,204 (GRCm39)	T960M	possibly damaging	Het
Cdk18	A	G	1: 132,044,657 (GRCm39)	V323A	possibly damaging	Het
Celf2	G	T	2: 6,590,831 (GRCm39)	N279K	possibly damaging	Het
Cemip	T	C	7: 83,600,826 (GRCm39)	I932V	probably damaging	Het
Cep250	C	A	2: 155,803,973 (GRCm39)	Q28K	probably benign	Het
Ces2f	T	C	8: 105,676,596 (GRCm39)	C97R	probably damaging	Het
Cfap126	G	T	1: 170,941,627 (GRCm39)	G41C	possibly damaging	Het
Cfap96	A	T	8: 46,423,505 (GRCm39)	I69N	probably damaging	Het
Chat	T	C	14: 32,146,112 (GRCm39)	M354V	probably benign	Het
Clca4b	A	T	3: 144,632,945 (GRCm39)	D168E	possibly damaging	Het
Cpxm1	T	A	2: 130,235,496 (GRCm39)	M499L	possibly damaging	Het
Dennd3	T	A	15: 73,439,009 (GRCm39)	W1126R	probably damaging	Het
Dgkb	T	C	12: 38,652,819 (GRCm39)	S735P	probably damaging	Het
Dlec1	T	C	9: 118,976,202 (GRCm39)		probably null	Het
Dnajc6	T	C	4: 101,468,461 (GRCm39)	F166L	probably damaging	Het
Dph5	A	G	3: 115,693,426 (GRCm39)	N115D	possibly damaging	Het
Ercc3	G	A	18: 32,378,624 (GRCm39)	A202T	probably benign	Het
Erich3	A	T	3: 154,470,375 (GRCm39)	D136V	unknown	Het
Exoc2	T	C	13: 31,066,251 (GRCm39)	N475S	probably benign	Het
Fam217a	T	C	13: 35,095,285 (GRCm39)	D310G	probably damaging	Het
Fam53a	C	T	5: 33,758,007 (GRCm39)	S372N	probably benign	Het
Fbn2	C	G	18: 58,186,805 (GRCm39)	G1699R	probably damaging	Het
Fbxo46	T	C	7: 18,869,489 (GRCm39)	V36A	probably benign	Het
Fhip1a	T	C	3: 85,648,487 (GRCm39)	M26V	probably damaging	Het
G6pc1	A	G	11: 101,263,567 (GRCm39)	Y127C	probably damaging	Het
Gba2	A	G	4: 43,573,810 (GRCm39)	F161L	probably damaging	Het
Gja1	T	C	10: 56,264,325 (GRCm39)	L228P	probably damaging	Het
Gm20834	A	G	Y: 10,323,178 (GRCm39)	V86A	probably benign	Het
Hmcn1	A	T	1: 150,614,396 (GRCm39)	C1337S	probably damaging	Het
Il1rl1	T	A	1: 40,480,460 (GRCm39)	S30T	possibly damaging	Het
Itgb4	A	G	11: 115,896,548 (GRCm39)	T1436A	probably damaging	Het
Itk	T	A	11: 46,227,342 (GRCm39)	Q427L	probably benign	Het
Klhdc4	T	C	8: 122,526,266 (GRCm39)	E291G	probably damaging	Het
Map4	T	A	9: 109,881,887 (GRCm39)	S250R	possibly damaging	Het
Mnt	T	A	11: 74,727,285 (GRCm39)	V57E	possibly damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Mtcl2	T	C	2: 156,881,844 (GRCm39)	K736R	probably benign	Het
Musk	A	T	4: 58,301,625 (GRCm39)	I128F	probably damaging	Het
Myh4	G	A	11: 67,141,136 (GRCm39)	A733T	possibly damaging	Het
Myo5a	T	A	9: 75,043,670 (GRCm39)	F220I	probably damaging	Het
Npas3	A	G	12: 54,091,361 (GRCm39)	H305R	probably damaging	Het
Nrcam	A	T	12: 44,637,839 (GRCm39)	Y1132F	probably damaging	Het
Nt5c3b	A	C	11: 100,323,744 (GRCm39)	D189E	probably benign	Het
Nuf2	A	G	1: 169,333,683 (GRCm39)	L331P	probably damaging	Het
Nup214	C	T	2: 31,887,977 (GRCm39)	T646I	probably benign	Het
Or14j9	T	C	17: 37,875,076 (GRCm39)	N42S	probably damaging	Het
Pcdh18	T	C	3: 49,699,174 (GRCm39)	E1096G	probably damaging	Het
Pgm2	T	A	5: 64,265,070 (GRCm39)	F364I	probably benign	Het
Pikfyve	A	G	1: 65,273,421 (GRCm39)	N612S	probably damaging	Het
Pla2g4e	T	G	2: 120,016,863 (GRCm39)	H226P	possibly damaging	Het
Ppp3cb	T	C	14: 20,570,714 (GRCm39)	N339S	possibly damaging	Het
Prkd2	G	T	7: 16,577,573 (GRCm39)		probably benign	Het
Rnf133	T	C	6: 23,649,041 (GRCm39)	E296G	possibly damaging	Het
Sav1	A	T	12: 70,031,095 (GRCm39)	D142E	probably benign	Het
Scn3b	C	A	9: 40,199,719 (GRCm39)	P212T	probably damaging	Het
Sel1l	A	T	12: 91,799,827 (GRCm39)		probably null	Het
Septin9	A	G	11: 117,251,310 (GRCm39)	K543E	probably damaging	Het
Serpinb12	T	A	1: 106,876,883 (GRCm39)	D66E	probably benign	Het
Slc35e2	T	C	4: 155,702,106 (GRCm39)	F290S	probably benign	Het
Snrpa	A	G	7: 26,894,958 (GRCm39)	M1T	probably null	Het
Sptlc3	G	A	2: 139,478,600 (GRCm39)	V520I	probably benign	Het
Srpk3	A	G	X: 72,818,547 (GRCm39)	H79R	possibly damaging	Het
Stox2	A	G	8: 47,645,970 (GRCm39)	S497P	probably damaging	Het
Stradb	G	A	1: 59,032,731 (GRCm39)	S361N	probably damaging	Het
Sult3a2	T	C	10: 33,658,083 (GRCm39)	K10R	probably benign	Het
Susd4	A	G	1: 182,686,025 (GRCm39)	N192D	probably damaging	Het
Tcp10a	T	A	17: 7,593,374 (GRCm39)	D32E	probably benign	Het
Tdpoz4	T	A	3: 93,704,339 (GRCm39)	V212D	probably damaging	Het
Tdrd5	T	A	1: 156,111,944 (GRCm39)	T479S	probably benign	Het
Tex10	T	C	4: 48,452,946 (GRCm39)	D671G	probably benign	Het
Tex55	A	G	16: 38,648,380 (GRCm39)	V243A	probably benign	Het
Traj37	T	C	14: 54,418,996 (GRCm39)		probably benign	Het
Ttc7b	G	A	12: 100,466,376 (GRCm39)	R79C	probably damaging	Het
Vmn2r115	T	A	17: 23,565,373 (GRCm39)	L420Q	probably benign	Het
Wdr24	T	A	17: 26,047,181 (GRCm39)		probably null	Het
Wdr81	T	A	11: 75,336,484 (GRCm39)	Q516L	probably damaging	Het
Zmat1	A	T	X: 133,873,694 (GRCm39)	S566T	probably damaging	Homo

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
R4721:Zfp516	UTSW	18	82,975,236 (GRCm39)	missense	possibly damaging	0.49
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'- AAGTGTCCCTACTGTGATCAC -3'
(R):5'- CTATGTGGCTGAGCAGAGAC -3'

Sequencing Primer
(F):5'- TGTGATCACAGGGCTTCCC -3'
(R):5'- CTGCACTTGAACGGCTTG -3'

Posted On

2015-09-25