Mutagenetix > Incidental Mutation

Incidental Mutation 'R3855:Zfp512'

276101

Institutional Source

Beutler Lab

Gene Symbol

Zfp512

Ensembl Gene

ENSMUSG00000062761

Gene Name

zinc finger protein 512

Synonyms

2500002M11Rik

MMRRC Submission

040901-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.237) question?

Stock #

R3855 (G1)

Quality Score

174

Status

Validated

Chromosome

Chromosomal Location

31609775-31639098 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31637593 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 505 (R505G)

Ref Sequence

ENSEMBL: ENSMUSP00000143860 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076264] [ENSMUST00000202244]

AlphaFold

Q69Z99

Predicted Effect

possibly damaging
Transcript: ENSMUST00000076264
AA Change: R561G

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000075613
Gene: ENSMUSG00000062761
AA Change: R561G

Domain	Start	End	E-Value	Type
low complexity region	51	65	N/A	INTRINSIC
low complexity region	92	106	N/A	INTRINSIC
Blast:ZnF_C2H2	172	197	2e-8	BLAST
ZnF_C2H2	200	223	3.78e-1	SMART
ZnF_C2H2	254	276	2.63e2	SMART
ZnF_C2H2	290	313	3.39e-3	SMART
ZnF_C2H2	408	430	7.37e1	SMART
ZnF_C2H2	442	465	3.11e-2	SMART
low complexity region	485	511	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000202244
AA Change: R505G

PolyPhen 2 Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000143860
Gene: ENSMUSG00000062761
AA Change: R505G

Domain	Start	End	E-Value	Type
low complexity region	51	65	N/A	INTRINSIC
low complexity region	92	106	N/A	INTRINSIC
Blast:ZnF_C2H2	172	197	1e-8	BLAST
ZnF_C2H2	200	223	1.6e-3	SMART
ZnF_C2H2	352	374	3.2e-1	SMART
ZnF_C2H2	386	409	1.4e-4	SMART
low complexity region	429	455	N/A	INTRINSIC

Meta Mutation Damage Score

0.0746

Coding Region Coverage

1x: 99.6%
3x: 98.7%
10x: 96.9%
20x: 93.3%

Validation Efficiency

98% (45/46)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing four putative zinc finger motifs. Zinc finger motifs may bind to proteins or nucleic acids. Zinc finger-containing proteins are involved in a variety of processes, including regulation of transcription. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Sep 2012]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akna	A	T	4: 63,291,705 (GRCm39)	S1144R	probably damaging	Het
Apbb1ip	T	C	2: 22,765,187 (GRCm39)	S623P	unknown	Het
Apex1	A	G	14: 51,163,714 (GRCm39)	T109A	probably benign	Het
Arhgef1	G	A	7: 24,618,697 (GRCm39)	G107S	probably damaging	Het
Ccnq	T	C	11: 78,642,013 (GRCm39)	N159S	probably benign	Het
Cdc42bpa	A	G	1: 179,983,543 (GRCm39)		probably benign	Het
Cog2	T	C	8: 125,256,742 (GRCm39)		probably null	Het
Dennd4c	G	A	4: 86,698,084 (GRCm39)	V191M	probably damaging	Het
Dthd1	T	A	5: 62,984,472 (GRCm39)	H392Q	probably benign	Het
Dthd1	T	C	5: 63,045,366 (GRCm39)	V710A	probably benign	Het
Galnt7	T	C	8: 57,985,658 (GRCm39)		probably benign	Het
Gm4868	A	G	5: 125,925,609 (GRCm39)		noncoding transcript	Het
Gpr179	T	C	11: 97,232,260 (GRCm39)	E648G	probably damaging	Het
Hk2	T	C	6: 82,713,657 (GRCm39)	E447G	possibly damaging	Het
Idi1	G	T	13: 8,935,968 (GRCm39)	A25S	probably benign	Het
Itgb3bp	T	C	4: 99,686,957 (GRCm39)	E76G	possibly damaging	Het
Khk	A	G	5: 31,084,401 (GRCm39)	D82G	probably benign	Het
Kif17	A	G	4: 138,018,821 (GRCm39)	S533G	probably benign	Het
Kmt2a	A	G	9: 44,741,796 (GRCm39)		probably benign	Het
Kmt5c	T	C	7: 4,749,255 (GRCm39)	F104S	probably damaging	Het
Lmf1	G	A	17: 25,873,445 (GRCm39)	V317M	probably damaging	Het
Mdh1	C	T	11: 21,509,281 (GRCm39)	V234I	probably benign	Het
Nbas	T	A	12: 13,329,415 (GRCm39)	I120N	possibly damaging	Het
Nfia	A	G	4: 97,951,259 (GRCm39)	H362R	probably damaging	Het
Nhlrc2	T	C	19: 56,576,703 (GRCm39)		probably null	Het
Nme5	A	G	18: 34,702,884 (GRCm39)	S135P	possibly damaging	Het
Nt5c2	A	G	19: 46,884,957 (GRCm39)	V252A	probably damaging	Het
Nufip2	T	C	11: 77,583,715 (GRCm39)	V543A	probably damaging	Het
Or1l4b	A	T	2: 37,036,835 (GRCm39)	I204F	possibly damaging	Het
Or2y10	A	G	11: 49,454,918 (GRCm39)	T57A	probably damaging	Het
Otog	T	C	7: 45,923,184 (GRCm39)	S1020P	possibly damaging	Het
Pear1	T	C	3: 87,659,228 (GRCm39)	H814R	possibly damaging	Het
Pkd1l1	A	G	11: 8,915,047 (GRCm39)		probably null	Het
Pla2g4a	T	A	1: 149,705,928 (GRCm39)	I711F	possibly damaging	Het
Ppig	G	A	2: 69,579,719 (GRCm39)	V418I	unknown	Het
Prg4	T	C	1: 150,327,751 (GRCm39)	Y234C	probably damaging	Het
Prmt9	G	A	8: 78,294,894 (GRCm39)	V413I	probably benign	Het
Rnf145	G	A	11: 44,422,120 (GRCm39)	V68M	possibly damaging	Het
Sepsecs	G	A	5: 52,821,616 (GRCm39)	R74C	probably damaging	Het
Sgsm1	A	G	5: 113,411,125 (GRCm39)	V580A	probably benign	Het
Sh3bp1	C	T	15: 78,785,361 (GRCm39)		probably benign	Het
Sox11	C	A	12: 27,391,501 (GRCm39)	G303C	probably damaging	Het
Usp54	C	A	14: 20,638,488 (GRCm39)	M197I	probably damaging	Het
Vps26c	A	G	16: 94,311,665 (GRCm39)	F95L	probably benign	Het
Xylt1	T	G	7: 117,192,777 (GRCm39)	L361R	probably damaging	Het

Other mutations in Zfp512

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01540:Zfp512	APN	5	31,630,840 (GRCm39)	missense	probably damaging	1.00
IGL02657:Zfp512	APN	5	31,628,501 (GRCm39)	missense	probably damaging	1.00
PIT4504001:Zfp512	UTSW	5	31,634,225 (GRCm39)	critical splice donor site	probably null
R2054:Zfp512	UTSW	5	31,622,793 (GRCm39)	missense	probably benign	0.03
R2228:Zfp512	UTSW	5	31,622,919 (GRCm39)	missense	probably damaging	1.00
R2679:Zfp512	UTSW	5	31,622,798 (GRCm39)	missense	probably benign	0.00
R2982:Zfp512	UTSW	5	31,634,122 (GRCm39)	splice site	probably null
R3857:Zfp512	UTSW	5	31,630,184 (GRCm39)	missense	probably damaging	1.00
R3858:Zfp512	UTSW	5	31,630,184 (GRCm39)	missense	probably damaging	1.00
R4603:Zfp512	UTSW	5	31,637,570 (GRCm39)	missense	probably benign	0.07
R4827:Zfp512	UTSW	5	31,630,158 (GRCm39)	missense	probably benign	0.16
R4915:Zfp512	UTSW	5	31,634,209 (GRCm39)	missense	probably damaging	1.00
R4918:Zfp512	UTSW	5	31,634,209 (GRCm39)	missense	probably damaging	1.00
R5906:Zfp512	UTSW	5	31,637,408 (GRCm39)	missense	probably damaging	1.00
R6520:Zfp512	UTSW	5	31,623,984 (GRCm39)	missense	probably damaging	1.00
R7508:Zfp512	UTSW	5	31,630,883 (GRCm39)	missense	possibly damaging	0.95
R8485:Zfp512	UTSW	5	31,637,401 (GRCm39)	missense	probably damaging	0.98
R8513:Zfp512	UTSW	5	31,637,425 (GRCm39)	missense	probably damaging	0.98
R8768:Zfp512	UTSW	5	31,630,882 (GRCm39)	missense	probably damaging	0.98
R8795:Zfp512	UTSW	5	31,634,134 (GRCm39)	missense	probably damaging	1.00
R9055:Zfp512	UTSW	5	31,637,533 (GRCm39)	nonsense	probably null
R9214:Zfp512	UTSW	5	31,637,434 (GRCm39)	missense	probably damaging	1.00
R9440:Zfp512	UTSW	5	31,628,359 (GRCm39)	missense	possibly damaging	0.92
R9551:Zfp512	UTSW	5	31,623,676 (GRCm39)	missense	probably benign
R9552:Zfp512	UTSW	5	31,623,676 (GRCm39)	missense	probably benign
R9635:Zfp512	UTSW	5	31,623,669 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TCCCCTGCAGGATTGGTTTG -3'
(R):5'- CCAAGGGAATATGAACCTACTGAG -3'

Sequencing Primer
(F):5'- GGTTTGTTGTGAACCCAACAACC -3'
(R):5'- CCTACTGAGGCAGGGAGG -3'

Posted On

2015-04-06