Mutagenetix > Incidental Mutation

Incidental Mutation 'R1574:Zfp516'

202770

Institutional Source

Beutler Lab

Gene Symbol

Zfp516

Ensembl Gene

ENSMUSG00000058881

Gene Name

zinc finger protein 516

Synonyms

Zfp26l, C330029B10Rik

MMRRC Submission

045014-MU

Accession Numbers

Essential gene?

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

Stock #

R1574 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

82928788-83023439 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 83011300 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 1111 (L1111H)

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: L1111H

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000071216
Gene: ENSMUSG00000058881
AA Change: L1111H

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: L1111H

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000126629
Gene: ENSMUSG00000058881
AA Change: L1111H

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: 97.5%
3x: 97.0%
10x: 95.5%
20x: 93.0%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl3	T	A	5: 81,935,296 (GRCm39)	N1276K	probably damaging	Het
Als2cl	A	G	9: 110,713,128 (GRCm39)	E6G	probably damaging	Het
Ankrd12	A	T	17: 66,293,269 (GRCm39)	D721E	probably benign	Het
Anpep	A	G	7: 79,488,155 (GRCm39)		probably null	Het
Apeh	A	T	9: 107,969,925 (GRCm39)		probably null	Het
Apob	A	T	12: 8,040,839 (GRCm39)	I655L	possibly damaging	Het
Atp2b1	T	A	10: 98,832,810 (GRCm39)	L437Q	probably damaging	Het
Cacna2d3	T	A	14: 29,073,779 (GRCm39)	R222S	probably damaging	Het
Cdc25b	T	A	2: 131,033,057 (GRCm39)		probably benign	Het
Cdon	A	G	9: 35,364,233 (GRCm39)		probably benign	Het
Cenpf	C	T	1: 189,384,910 (GRCm39)	D2457N	probably damaging	Het
Cenpo	A	T	12: 4,265,433 (GRCm39)		probably null	Het
Ces2b	G	T	8: 105,562,521 (GRCm39)	A284S	probably benign	Het
Clock	T	C	5: 76,390,679 (GRCm39)	D311G	probably damaging	Het
Csmd3	T	C	15: 47,559,257 (GRCm39)		probably null	Het
Dbil5	A	G	11: 76,109,308 (GRCm39)	M71V	probably benign	Het
Ddhd1	A	C	14: 45,833,004 (GRCm39)	L864R	probably damaging	Het
Ddx19a	T	C	8: 111,719,743 (GRCm39)		probably benign	Het
Dnah11	A	G	12: 118,024,052 (GRCm39)	C1900R	probably damaging	Het
Dnah2	A	G	11: 69,405,514 (GRCm39)	V666A	probably benign	Het
Dnah5	T	A	15: 28,252,569 (GRCm39)	M754K	probably benign	Het
Dnajc15	A	T	14: 78,063,854 (GRCm39)	S145T	probably benign	Het
Drap1	A	G	19: 5,474,285 (GRCm39)	F25S	probably damaging	Het
Drgx	A	G	14: 32,327,281 (GRCm39)		probably benign	Het
Fam83e	G	A	7: 45,376,135 (GRCm39)	E283K	probably damaging	Het
Fbxo48	G	T	11: 16,903,368 (GRCm39)		probably benign	Het
Fndc3a	A	T	14: 72,793,997 (GRCm39)	I892N	probably damaging	Het
Gcn1	A	G	5: 115,753,611 (GRCm39)	T2321A	probably benign	Het
Gm1110	G	T	9: 26,792,422 (GRCm39)		probably benign	Het
Gm5499	T	C	17: 87,386,423 (GRCm39)		noncoding transcript	Het
Gmnc	G	T	16: 26,782,729 (GRCm39)		probably benign	Het
Greb1l	A	G	18: 10,554,997 (GRCm39)	D1681G	possibly damaging	Het
Hc	G	A	2: 34,890,777 (GRCm39)		probably benign	Het
Hmcn2	A	C	2: 31,294,899 (GRCm39)	T2563P	probably damaging	Het
Iqcd	A	T	5: 120,738,300 (GRCm39)	K39N	probably damaging	Het
Irag2	T	G	6: 145,104,356 (GRCm39)		probably benign	Het
Kank2	A	G	9: 21,685,871 (GRCm39)	S668P	probably damaging	Het
Kcng1	T	A	2: 168,110,961 (GRCm39)	N68Y	probably damaging	Het
Kmt5b	T	A	19: 3,836,633 (GRCm39)		probably null	Het
Lama2	T	A	10: 27,200,750 (GRCm39)	I533F	possibly damaging	Het
Lcmt1	T	A	7: 123,002,131 (GRCm39)	I132N	probably damaging	Het
Mad2l2	G	T	4: 148,227,429 (GRCm39)		probably benign	Het
Mcph1	T	C	8: 18,851,428 (GRCm39)	I807T	probably damaging	Het
Mdn1	A	G	4: 32,722,315 (GRCm39)	I2366V	probably benign	Het
Moxd1	T	C	10: 24,176,217 (GRCm39)	W558R	probably damaging	Het
Myh13	T	C	11: 67,253,407 (GRCm39)		probably benign	Het
Myrf	T	C	19: 10,202,851 (GRCm39)	D141G	probably damaging	Het
Ncoa7	T	C	10: 30,570,097 (GRCm39)	I249M	probably damaging	Het
Obox5	T	C	7: 15,492,558 (GRCm39)	V171A	probably damaging	Het
Or13e8	A	T	4: 43,697,134 (GRCm39)	V13D	possibly damaging	Het
Or2c1	T	C	16: 3,657,521 (GRCm39)	I228T	probably damaging	Het
Or5ak20	A	T	2: 85,184,243 (GRCm39)	V9E	probably damaging	Het
Or6c219	A	G	10: 129,781,379 (GRCm39)	L69P	probably damaging	Het
Or7a36	C	A	10: 78,819,820 (GRCm39)	N32K	probably damaging	Het
Parp4	A	G	14: 56,839,752 (GRCm39)	T487A	probably damaging	Het
Pclo	A	G	5: 14,729,845 (GRCm39)		probably benign	Het
Pcnx2	G	A	8: 126,500,669 (GRCm39)	R1474C	probably damaging	Het
Qtrt2	A	G	16: 43,692,195 (GRCm39)		probably benign	Het
Sart1	G	A	19: 5,430,287 (GRCm39)	P788L	probably damaging	Het
Sdk1	A	G	5: 141,984,634 (GRCm39)	T740A	probably benign	Het
Serpinb1c	T	C	13: 33,072,979 (GRCm39)	D61G	possibly damaging	Het
Slc24a5	G	A	2: 124,922,782 (GRCm39)	G152S	probably damaging	Het
Slc6a4	A	T	11: 76,910,022 (GRCm39)	I426F	possibly damaging	Het
Stk33	C	T	7: 108,879,027 (GRCm39)	V441I	probably benign	Het
Sult1c2	A	G	17: 54,143,927 (GRCm39)		probably null	Het
Tdpoz4	T	A	3: 93,703,835 (GRCm39)	V44E	probably benign	Het
Tmprss13	C	A	9: 45,254,529 (GRCm39)	T432K	probably damaging	Het
Traf7	A	G	17: 24,729,527 (GRCm39)	L428P	probably damaging	Het
Tubb1	T	C	2: 174,299,215 (GRCm39)	I299T	probably benign	Het
Vmn1r158	A	T	7: 22,489,772 (GRCm39)	W146R	probably damaging	Het
Vmn1r42	A	G	6: 89,822,059 (GRCm39)	I170T	possibly damaging	Het
Vmn2r116	A	T	17: 23,606,063 (GRCm39)	H325L	probably damaging	Het
Zfp61	C	G	7: 23,990,635 (GRCm39)	K505N	probably damaging	Het
Zfp653	C	A	9: 21,969,274 (GRCm39)	E331*	probably null	Het
Zfp949	A	T	9: 88,451,830 (GRCm39)	K467*	probably null	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
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
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'- GACAGACTAACTATGTCCTCCTCTC -3'
(R):5'- CAGTGGCTAACAGAAAACTGGC -3'

Sequencing Primer
(F):5'- ACTAACTATGTCCTCCTCTCTCCCTC -3'
(R):5'- CATCCATAGACAGCTGATCTTGGG -3'

Posted On

2014-06-23