Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4504001:Zfp512'

556005

Institutional Source

Beutler Lab

Gene Symbol

Zfp512

Ensembl Gene

ENSMUSG00000062761

Gene Name

zinc finger protein 512

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.242) question?

Stock #

PIT4504001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

31452431-31481754 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 31476881 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000075613 (fasta)

Gene Model

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

AlphaFold

Q69Z99

Predicted Effect

probably null
Transcript: ENSMUST00000076264

SMART Domains

Protein: ENSMUSP00000075613
Gene: ENSMUSG00000062761

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 null
Transcript: ENSMUST00000202244

SMART Domains

Protein: ENSMUSP00000143860
Gene: ENSMUSG00000062761

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: 92.8%
3x: 90.6%
10x: 84.7%
20x: 71.6%

Validation Efficiency

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb2	T	A	2: 103,717,192	C970*	probably null	Het
Adgrv1	G	A	13: 81,559,352	P1312S	probably damaging	Het
Als2cr12	T	A	1: 58,659,099	I348F	probably benign	Het
Arid5a	T	C	1: 36,317,625	I116T	probably damaging	Het
Bank1	C	A	3: 136,100,419	D485Y	probably damaging	Het
Cbln3	C	T	14: 55,883,499	V122M	probably damaging	Het
Cox10	C	T	11: 63,964,216	C413Y	possibly damaging	Het
Ctsll3	T	A	13: 60,801,009	D44V	probably benign	Het
Cuzd1	A	T	7: 131,309,800	N483K	possibly damaging	Het
Dcaf4	G	A	12: 83,534,011		probably null	Het
Ddx60	A	G	8: 61,958,113	T470A	probably benign	Het
Dennd1b	T	C	1: 139,040,004	V44A	probably benign	Het
Dusp16	C	A	6: 134,739,883	V154F	possibly damaging	Het
Ect2	G	A	3: 27,126,948	R586*	probably null	Het
Ermard	T	A	17: 15,058,822	C460*	probably null	Het
Fat2	C	T	11: 55,256,110	G4020D	possibly damaging	Het
Galnt16	G	T	12: 80,592,417	E402*	probably null	Het
Gm5414	T	G	15: 101,625,823	D282A	probably damaging	Het
Gm6741	C	T	17: 91,236,916	Q36*	probably null	Het
Gm7356	A	T	17: 14,001,458	L103Q	probably damaging	Het
Hcn1	A	G	13: 117,975,875	T792A	possibly damaging	Het
Hemgn	T	C	4: 46,395,863	N458D	probably benign	Het
Hesx1	C	A	14: 27,001,881	D140E	probably benign	Het
Hfe2	A	T	3: 96,528,497	D357V	probably damaging	Het
Hmgcr	A	G	13: 96,663,097	I163T	possibly damaging	Het
Igfbpl1	T	C	4: 45,813,469	T249A	possibly damaging	Het
Il33	A	T	19: 29,952,739	H78L	probably benign	Het
Inpp4b	A	T	8: 82,041,935	D691V	probably damaging	Het
Itpr2	T	A	6: 146,229,871	N1945I	probably damaging	Het
Lnpep	A	G	17: 17,579,027	V122A	probably benign	Het
Lrp2	T	C	2: 69,475,403	D2938G	probably damaging	Het
Lrrc8c	A	T	5: 105,608,537	Y726F	probably benign	Het
Magi3	G	T	3: 104,015,526	Q1292K	probably benign	Het
Mllt3	A	C	4: 87,774,087	F546L	probably damaging	Het
Mrpl14	A	G	17: 45,698,221	K82R	probably benign	Het
Noxred1	A	G	12: 87,224,879	V172A	possibly damaging	Het
Obscn	A	T	11: 59,133,122	I574N	probably damaging	Het
Olfr133	A	G	17: 38,149,169	T194A	probably benign	Het
Olfr175-ps1	T	A	16: 58,824,308	T134S	probably benign	Het
Osbpl11	T	A	16: 33,234,494	V649D	probably benign	Het
Pdlim2	G	T	14: 70,166,130	P278T	probably benign	Het
Pm20d2	A	C	4: 33,183,152	L223V	probably damaging	Het
Pmpcb	G	T	5: 21,743,390	R223L	probably damaging	Het
Pole2	A	T	12: 69,209,985	Y255*	probably null	Het
Rims1	T	A	1: 22,397,460	I317L		Het
Scnn1g	C	A	7: 121,742,331	H239N	probably benign	Het
Spag17	A	G	3: 100,103,110		probably null	Het
Tenm3	A	T	8: 48,293,657	F1038I	probably damaging	Het
Tshz2	T	C	2: 169,886,051	F856L	probably damaging	Het
Ubtf	A	G	11: 102,306,682	S715P	unknown	Het
Usp13	A	C	3: 32,905,430	S557R	probably damaging	Het
Usp19	T	A	9: 108,492,970	S43T	probably benign	Het
Vmn2r7	A	T	3: 64,715,976	Y308N	probably benign	Het
Zfp455	A	G	13: 67,198,621	D32G	probably damaging	Het
Zfr	A	G	15: 12,166,158	E838G	possibly damaging	Het

Other mutations in Zfp512

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01540:Zfp512	APN	5	31,473,496 (GRCm38)	missense	probably damaging	1.00
IGL02657:Zfp512	APN	5	31,471,157 (GRCm38)	missense	probably damaging	1.00
R2054:Zfp512	UTSW	5	31,465,449 (GRCm38)	missense	probably benign	0.03
R2228:Zfp512	UTSW	5	31,465,575 (GRCm38)	missense	probably damaging	1.00
R2679:Zfp512	UTSW	5	31,465,454 (GRCm38)	missense	probably benign	0.00
R2982:Zfp512	UTSW	5	31,476,778 (GRCm38)	splice site	probably null
R3855:Zfp512	UTSW	5	31,480,249 (GRCm38)	missense	possibly damaging	0.88
R3857:Zfp512	UTSW	5	31,472,840 (GRCm38)	missense	probably damaging	1.00
R3858:Zfp512	UTSW	5	31,472,840 (GRCm38)	missense	probably damaging	1.00
R4603:Zfp512	UTSW	5	31,480,226 (GRCm38)	missense	probably benign	0.07
R4827:Zfp512	UTSW	5	31,472,814 (GRCm38)	missense	probably benign	0.16
R4915:Zfp512	UTSW	5	31,476,865 (GRCm38)	missense	probably damaging	1.00
R4918:Zfp512	UTSW	5	31,476,865 (GRCm38)	missense	probably damaging	1.00
R5906:Zfp512	UTSW	5	31,480,064 (GRCm38)	missense	probably damaging	1.00
R6520:Zfp512	UTSW	5	31,466,640 (GRCm38)	missense	probably damaging	1.00
R7508:Zfp512	UTSW	5	31,473,539 (GRCm38)	missense	possibly damaging	0.95
R8485:Zfp512	UTSW	5	31,480,057 (GRCm38)	missense	probably damaging	0.98
R8513:Zfp512	UTSW	5	31,480,081 (GRCm38)	missense	probably damaging	0.98
R8768:Zfp512	UTSW	5	31,473,538 (GRCm38)	missense	probably damaging	0.98
R8795:Zfp512	UTSW	5	31,476,790 (GRCm38)	missense	probably damaging	1.00
R9055:Zfp512	UTSW	5	31,480,189 (GRCm38)	nonsense	probably null
R9214:Zfp512	UTSW	5	31,480,090 (GRCm38)	missense	probably damaging	1.00
R9440:Zfp512	UTSW	5	31,471,015 (GRCm38)	missense	possibly damaging	0.92
R9551:Zfp512	UTSW	5	31,466,332 (GRCm38)	missense	probably benign
R9552:Zfp512	UTSW	5	31,466,332 (GRCm38)	missense	probably benign
R9635:Zfp512	UTSW	5	31,466,325 (GRCm38)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TGATTAAGACATTCCCCGTTCC -3'
(R):5'- AGAATTATAGGGGCTCAAACATGC -3'

Sequencing Primer
(F):5'- GATTAAGACATTCCCCGTTCCTTTTC -3'
(R):5'- GCCAGCCACAGTGAGCTTTATC -3'

Posted On

2019-06-07