Mutagenetix > Incidental Mutation

Incidental Mutation 'R7508:Zfp512'

581887

Institutional Source

Beutler Lab

Gene Symbol

Zfp512

Ensembl Gene

ENSMUSG00000062761

Gene Name

zinc finger protein 512

Synonyms

2500002M11Rik

MMRRC Submission

045581-MU

Accession Numbers

Essential gene?

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

Stock #

R7508 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31609775-31639098 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 31630883 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 408 (I408M)

Ref Sequence

ENSEMBL: ENSMUSP00000075613 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076264] [ENSMUST00000200782] [ENSMUST00000201450] [ENSMUST00000202244]

AlphaFold

Q69Z99

Predicted Effect

possibly damaging
Transcript: ENSMUST00000076264
AA Change: I408M

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000075613
Gene: ENSMUSG00000062761
AA Change: I408M

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

probably benign
Transcript: ENSMUST00000200782

SMART Domains

Protein: ENSMUSP00000143874
Gene: ENSMUSG00000062761

Domain	Start	End	E-Value	Type
Blast:ZnF_C2H2	55	79	9e-9	BLAST
ZnF_C2H2	83	106	1.6e-3	SMART
ZnF_C2H2	137	159	1.1e0	SMART
ZnF_C2H2	173	196	1.5e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000201450

SMART Domains

Protein: ENSMUSP00000144433
Gene: ENSMUSG00000062761

Domain	Start	End	E-Value	Type
ZnF_C2H2	46	69	1.6e-3	SMART
ZnF_C2H2	100	122	1.1e0	SMART
ZnF_C2H2	136	159	1.5e-5	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000202244
AA Change: I352M

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000143860
Gene: ENSMUSG00000062761
AA Change: I352M

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (56/56)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra3	C	T	5: 50,174,209 (GRCm39)	A110T	probably benign	Het
Adra1a	A	C	14: 66,875,384 (GRCm39)	I120L	probably damaging	Het
Ahnak2	C	T	12: 112,740,839 (GRCm39)	V1078I	possibly damaging	Het
Ccser1	A	G	6: 61,547,707 (GRCm39)	H590R	probably benign	Het
Cdh12	T	G	15: 21,583,851 (GRCm39)	L564V	probably benign	Het
Celsr3	T	A	9: 108,713,821 (GRCm39)	H1900Q	probably benign	Het
Clasp1	T	A	1: 118,473,164 (GRCm39)	M918K	probably benign	Het
Cmtm6	A	G	9: 114,560,308 (GRCm39)	E2G	probably damaging	Het
Ctsg	A	G	14: 56,337,998 (GRCm39)		probably null	Het
Cylc2	T	A	4: 51,229,256 (GRCm39)		probably null	Het
Dna2	A	G	10: 62,807,772 (GRCm39)		probably null	Het
Dnai1	G	A	4: 41,614,323 (GRCm39)	R333H	probably benign	Het
Egln3	T	C	12: 54,227,414 (GRCm39)	D239G	probably benign	Het
Eif1ad12	T	C	12: 87,541,612 (GRCm39)	M41T	possibly damaging	Het
Fam13a	A	T	6: 58,964,269 (GRCm39)	D54E	probably damaging	Het
Fn1	A	G	1: 71,636,675 (GRCm39)	V2159A	probably benign	Het
Gcnt2	T	A	13: 41,041,157 (GRCm39)	F105L	probably benign	Het
Gpd1	G	A	15: 99,619,967 (GRCm39)	S255N	probably damaging	Het
Hacd4	A	G	4: 88,355,715 (GRCm39)	F57L	probably benign	Het
Helb	T	C	10: 119,941,188 (GRCm39)	D500G	probably benign	Het
Ighv1-26	G	A	12: 114,752,062 (GRCm39)	S94F	probably damaging	Het
Kirrel1	T	C	3: 86,990,746 (GRCm39)	D692G	possibly damaging	Het
Klra7	A	T	6: 130,207,054 (GRCm39)		probably null	Het
Lyl1	T	C	8: 85,430,929 (GRCm39)	V277A	probably benign	Het
Mon2	A	C	10: 122,859,844 (GRCm39)	W811G	probably damaging	Het
Myo9b	T	C	8: 71,807,445 (GRCm39)	L1627P	probably benign	Het
Neurl1b	C	G	17: 26,657,720 (GRCm39)	H219Q	probably benign	Het
Odf4	A	T	11: 68,813,249 (GRCm39)	C218S	possibly damaging	Het
Or2b6	T	A	13: 21,822,779 (GRCm39)	I305F	probably benign	Het
Or8u3-ps	A	G	2: 85,952,282 (GRCm39)	N5S	possibly damaging	Het
Pde5a	A	G	3: 122,611,679 (GRCm39)	D571G	probably damaging	Het
Pgc	A	G	17: 48,045,111 (GRCm39)	E343G	probably benign	Het
Pik3cd	A	G	4: 149,739,040 (GRCm39)	F667L	possibly damaging	Het
Prf1	G	A	10: 61,135,934 (GRCm39)	R70H	possibly damaging	Het
Ptprb	C	T	10: 116,189,896 (GRCm39)	Q1565*	probably null	Het
Rapgef4	T	A	2: 72,036,077 (GRCm39)	N523K	probably benign	Het
Rbm25	T	C	12: 83,719,651 (GRCm39)	L557P	probably damaging	Het
Rhobtb3	C	T	13: 76,026,976 (GRCm39)	V466I	probably benign	Het
Rnpep	A	G	1: 135,206,596 (GRCm39)	V166A	probably benign	Het
Sgo2a	A	G	1: 58,056,954 (GRCm39)	K1046R	probably benign	Het
Slc12a2	T	C	18: 58,037,465 (GRCm39)	V525A	probably benign	Het
Slc1a4	A	T	11: 20,256,487 (GRCm39)	I448N	probably damaging	Het
Slc29a4	C	T	5: 142,704,261 (GRCm39)	P305L	probably benign	Het
Slc9a5	T	A	8: 106,089,885 (GRCm39)		probably null	Het
Spag16	A	T	1: 69,926,679 (GRCm39)	N258I	possibly damaging	Het
Sspo	T	A	6: 48,443,633 (GRCm39)	L2076Q	probably damaging	Het
Taok1	T	A	11: 77,436,152 (GRCm39)	H704L	probably damaging	Het
Tbc1d9b	T	C	11: 50,035,947 (GRCm39)	F148L	probably damaging	Het
Tm4sf1	A	G	3: 57,202,176 (GRCm39)	Y12H	probably benign	Het
Traj6	C	T	14: 54,450,171 (GRCm39)	T9M		Het
Ttll4	A	G	1: 74,726,418 (GRCm39)	N672S	possibly damaging	Het
Ube3a	T	A	7: 58,953,437 (GRCm39)	H790Q	possibly damaging	Het
Usp49	G	A	17: 47,983,205 (GRCm39)	R70Q	probably benign	Het
Vmn2r32	C	T	7: 7,470,373 (GRCm39)	V515M	possibly damaging	Het
Wars1	A	G	12: 108,848,801 (GRCm39)	S49P	probably benign	Het
Zbp1	T	A	2: 173,049,604 (GRCm39)	Q386L	possibly damaging	Het
Zfp369	T	C	13: 65,427,087 (GRCm39)	F10S	unknown	Het
Zfp952	A	G	17: 33,222,756 (GRCm39)	I412V	probably benign	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
R3855:Zfp512	UTSW	5	31,637,593 (GRCm39)	missense	possibly damaging	0.88
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
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'- CCCACTCTTTCAAAATAGGTATGAAGC -3'
(R):5'- TCCAAGGACTAGTTCACTGATCCC -3'

Sequencing Primer
(F):5'- TCAAAATAGGTATGAAGCTTTGAGC -3'
(R):5'- GGACTAGTTCACTGATCCCATGAATG -3'

Posted On

2019-10-17