Mutagenetix > Incidental Mutation

Incidental Mutation 'R4827:Zfp512'

372494

Institutional Source

Beutler Lab

Gene Symbol

Zfp512

Ensembl Gene

ENSMUSG00000062761

Gene Name

zinc finger protein 512

Synonyms

2500002M11Rik

MMRRC Submission

042443-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.291) question?

Stock #

R4827 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31609775-31639098 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 31630158 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 274 (M274I)

Ref Sequence

ENSEMBL: ENSMUSP00000143860 (fasta)

Gene Model

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

AlphaFold

Q69Z99

Predicted Effect

probably benign
Transcript: ENSMUST00000076264
AA Change: M330I

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000075613
Gene: ENSMUSG00000062761
AA Change: M330I

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
AA Change: M213I

PolyPhen 2 Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000143874
Gene: ENSMUSG00000062761
AA Change: M213I

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
AA Change: M176I

PolyPhen 2 Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000144433
Gene: ENSMUSG00000062761
AA Change: M176I

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 benign
Transcript: ENSMUST00000202244
AA Change: M274I

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000143860
Gene: ENSMUSG00000062761
AA Change: M274I

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

0.0703

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

96% (67/70)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck1	A	G	12: 88,413,489 (GRCm39)	R274G	probably benign	Het
Agbl5	T	G	5: 31,053,158 (GRCm39)	S83R	probably damaging	Het
Ankib1	A	G	5: 3,751,907 (GRCm39)	I711T	probably damaging	Het
Arnt	T	A	3: 95,397,224 (GRCm39)		probably null	Het
Atad2	C	G	15: 57,971,744 (GRCm39)	V702L	probably benign	Het
B4galnt4	A	G	7: 140,648,392 (GRCm39)	E636G	probably benign	Het
Btbd2	A	G	10: 80,482,223 (GRCm39)	I244T	probably damaging	Het
Cenpc1	A	T	5: 86,182,290 (GRCm39)	N531K	possibly damaging	Het
Ces3b	T	A	8: 105,813,527 (GRCm39)	M266K	probably benign	Het
Cfap54	A	T	10: 92,737,937 (GRCm39)		probably benign	Het
Coq8a	A	G	1: 179,994,903 (GRCm39)	V590A	possibly damaging	Het
Drc7	A	G	8: 95,798,267 (GRCm39)	Y504C	probably damaging	Het
Elovl4	T	C	9: 83,688,091 (GRCm39)	M1V	probably null	Het
Exd1	C	T	2: 119,350,807 (GRCm39)	A485T	probably benign	Het
Fads2	A	G	19: 10,059,958 (GRCm39)	F239L	probably benign	Het
Gcc2	A	T	10: 58,121,953 (GRCm39)		probably null	Het
Ggact	C	T	14: 123,128,987 (GRCm39)	R76H	probably benign	Het
Gm17535	T	A	9: 3,035,786 (GRCm39)	L218H	probably benign	Het
Gm3739	A	T	14: 18,506,218 (GRCm39)	F13I	probably damaging	Het
Gng2	T	C	14: 19,925,898 (GRCm39)	K65E	possibly damaging	Het
Gnmt	A	G	17: 47,038,245 (GRCm39)	Y94H	possibly damaging	Het
Gzme	C	A	14: 56,356,755 (GRCm39)	R69M	probably null	Het
Hdc	G	A	2: 126,436,233 (GRCm39)	P546L	probably benign	Het
Ibtk	C	A	9: 85,610,607 (GRCm39)	V326F	probably benign	Het
Inpp5b	G	T	4: 124,637,643 (GRCm39)		probably benign	Het
Kcnh7	A	T	2: 62,546,564 (GRCm39)	C1006S	probably benign	Het
Kcnk18	A	T	19: 59,208,362 (GRCm39)	N66I	probably damaging	Het
Lpar6	T	A	14: 73,476,190 (GRCm39)	N50K	probably damaging	Het
Lrba	G	T	3: 86,267,457 (GRCm39)	D1716Y	possibly damaging	Het
Ltf	T	A	9: 110,856,445 (GRCm39)		probably benign	Het
Map3k6	A	G	4: 132,976,160 (GRCm39)	T794A	possibly damaging	Het
Mcm8	A	G	2: 132,665,174 (GRCm39)	T217A	probably damaging	Het
Meaf6	A	G	4: 124,996,713 (GRCm39)	E141G	probably damaging	Het
Mmp13	A	G	9: 7,278,880 (GRCm39)	T324A	possibly damaging	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Msl2	T	G	9: 100,979,350 (GRCm39)	F575V	probably benign	Het
Ncoa4-ps	C	T	12: 119,225,529 (GRCm39)		noncoding transcript	Het
Nlrp2	A	T	7: 5,331,950 (GRCm39)	W149R	possibly damaging	Het
Ntng1	C	A	3: 110,042,727 (GRCm39)	C33F	probably damaging	Het
Nxn	A	G	11: 76,152,418 (GRCm39)	Y359H	probably benign	Het
Olfml2a	A	C	2: 38,850,033 (GRCm39)	D583A	probably damaging	Het
Or12j5	A	C	7: 140,083,583 (GRCm39)	L263R	probably damaging	Het
Or1e32	A	T	11: 73,705,547 (GRCm39)	Y120*	probably null	Het
Or2t48	A	G	11: 58,420,422 (GRCm39)	I130T	probably damaging	Het
Or4b1b	A	T	2: 90,112,547 (GRCm39)	I124N	probably damaging	Het
Or51ac3	A	T	7: 103,213,752 (GRCm39)	S245T	probably damaging	Het
Pcdha4	T	C	18: 37,086,251 (GRCm39)	S145P	probably damaging	Het
Pcsk2	A	T	2: 143,643,099 (GRCm39)	K459*	probably null	Het
Pirb	C	T	7: 3,720,602 (GRCm39)	G299S	probably benign	Het
Plch2	A	G	4: 155,075,570 (GRCm39)	F653S	probably damaging	Het
Plpp3	T	C	4: 105,088,167 (GRCm39)	I296T	probably benign	Het
Polr2b	A	G	5: 77,490,398 (GRCm39)	E846G	probably benign	Het
Ptpro	A	T	6: 137,419,708 (GRCm39)	N157Y	probably damaging	Het
Ralgapa1	A	G	12: 55,723,222 (GRCm39)	L1815P	probably damaging	Het
Sap18	A	G	14: 58,036,020 (GRCm39)	N69D	probably damaging	Het
Sncg	C	A	14: 34,095,284 (GRCm39)	V74F	probably damaging	Het
Spata31e2	T	C	1: 26,724,923 (GRCm39)	K86E	possibly damaging	Het
Spmip4	A	C	6: 50,572,836 (GRCm39)	S26A	possibly damaging	Het
Tmem186	A	T	16: 8,453,681 (GRCm39)	Y193*	probably null	Het
Trrap	A	G	5: 144,737,758 (GRCm39)	S1045G	probably benign	Het
Tti2	T	G	8: 31,640,998 (GRCm39)	S41A	probably benign	Het
Unc13c	T	C	9: 73,838,568 (GRCm39)	E761G	probably damaging	Het
Vamp2	T	A	11: 68,980,637 (GRCm39)	D68E	probably benign	Het
Vmn1r200	A	T	13: 22,579,265 (GRCm39)	M14L	probably benign	Het
Vps35	T	A	8: 86,000,186 (GRCm39)	D480V	possibly damaging	Het
Zfp462	T	C	4: 55,012,213 (GRCm39)	L1393P	probably damaging	Het
Znfx1	C	G	2: 166,886,151 (GRCm39)	G803A	possibly 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
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
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'- CGGCTTACCCTCATATGTGG -3'
(R):5'- TGATTACCAATGACACATGACCTTACC -3'

Sequencing Primer
(F):5'- GTAGCATACATACCTGTGAGCATGC -3'
(R):5'- CTTCCGGTCATCAGGTACCAG -3'

Posted On

2016-03-01