Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02657:Zfp512'

302369

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zfp512

Ensembl Gene

ENSMUSG00000062761

Gene Name

zinc finger protein 512

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.218) question?

Stock #

IGL02657

Quality Score

Status

Chromosome

Chromosomal Location

31452431-31481754 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 31471157 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 159 (H159L)

Ref Sequence

ENSEMBL: ENSMUSP00000144433 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076264] [ENSMUST00000200782] [ENSMUST00000201450] [ENSMUST00000202061] [ENSMUST00000202244]

AlphaFold

Q69Z99

Predicted Effect

probably damaging
Transcript: ENSMUST00000076264
AA Change: H313L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000075613
Gene: ENSMUSG00000062761
AA Change: H313L

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 damaging
Transcript: ENSMUST00000200782
AA Change: H196L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000143874
Gene: ENSMUSG00000062761
AA Change: H196L

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 damaging
Transcript: ENSMUST00000201450
AA Change: H159L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144433
Gene: ENSMUSG00000062761
AA Change: H159L

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

noncoding transcript
Transcript: ENSMUST00000201945

Predicted Effect

probably benign
Transcript: ENSMUST00000202061

SMART Domains

Protein: ENSMUSP00000143978
Gene: ENSMUSG00000062761

Domain	Start	End	E-Value	Type
low complexity region	15	29	N/A	INTRINSIC

Predicted Effect

probably benign
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

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afmid	G	A	11: 117,834,822	V120M	possibly damaging	Het
Aldh1l1	T	C	6: 90,590,794	L680P	probably damaging	Het
Alox12	A	T	11: 70,247,278	D410E	probably benign	Het
Amt	T	A	9: 108,301,380	V365E	probably damaging	Het
Ano9	A	G	7: 141,107,440	S321P	probably damaging	Het
Atp2c2	A	T	8: 119,753,032	I767F	probably damaging	Het
Bag1	A	T	4: 40,936,643	Y338N	probably benign	Het
Bcr	T	A	10: 75,154,964	D767E	probably benign	Het
Chfr	A	T	5: 110,154,839	Q350L	probably damaging	Het
Cops3	A	T	11: 59,830,217	L124H	probably damaging	Het
Ddx60	T	C	8: 61,984,115	Y988H	probably benign	Het
Dnajc2	A	T	5: 21,770,481		probably benign	Het
Dym	C	T	18: 75,082,456	Q238*	probably null	Het
Fam126b	A	T	1: 58,535,402	W327R	probably damaging	Het
Fbn1	A	T	2: 125,352,025	C1341S	possibly damaging	Het
Fryl	G	T	5: 73,054,860	N2308K	probably benign	Het
Gbp2b	G	T	3: 142,604,112	R221L	probably damaging	Het
Gm4070	T	C	7: 105,896,765	K2360R	probably damaging	Het
Gpat2	A	G	2: 127,427,331	N8S	probably benign	Het
Ift52	A	G	2: 163,045,215	D379G	probably damaging	Het
Inhbe	C	A	10: 127,350,776	L178F	probably damaging	Het
Ipo5	T	C	14: 120,943,800	Y913H	possibly damaging	Het
Kif21b	T	A	1: 136,172,230	D1507E	possibly damaging	Het
Lnx2	A	G	5: 147,028,174	V413A	probably damaging	Het
Lrrc40	C	A	3: 158,036,773	F16L	probably damaging	Het
Magi2	A	G	5: 19,227,583	K99E	probably damaging	Het
Me3	A	G	7: 89,846,253	I357M	probably benign	Het
Med30	A	G	15: 52,719,365	Y66C	probably benign	Het
Mief2	A	T	11: 60,730,957	S118C	probably damaging	Het
Mylip	A	G	13: 45,391,246	S49G	probably benign	Het
Ncoa7	T	A	10: 30,652,976	D107V	probably damaging	Het
Nvl	C	A	1: 181,106,976	V655F	probably damaging	Het
Olfml2b	C	T	1: 170,681,076	T501I	probably benign	Het
Ormdl2	T	C	10: 128,820,317	I40V	probably benign	Het
Pde6b	G	T	5: 108,420,276		probably benign	Het
Ralgapa1	A	C	12: 55,673,507	L1785W	probably damaging	Het
Rnf112	A	T	11: 61,450,252		probably null	Het
Sema3c	A	T	5: 17,576,868	M1L	possibly damaging	Het
Sema3c	T	A	5: 17,662,974	Y128N	probably damaging	Het
Sema4b	G	A	7: 80,217,041	G255D	probably damaging	Het
Setd1a	C	T	7: 127,795,825		probably benign	Het
Sirpb1a	A	C	3: 15,417,051	S72R	possibly damaging	Het
Slu7	T	A	11: 43,442,022		probably null	Het
Spata19	T	C	9: 27,397,980	V59A	probably benign	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Suclg1	T	A	6: 73,260,521	V83E	probably damaging	Het
Syncrip	G	T	9: 88,456,404	R536S	probably benign	Het
Tap2	T	C	17: 34,205,458	V55A	probably damaging	Het
Tekt4	T	C	17: 25,473,758	I186T	possibly damaging	Het
Trpc6	C	A	9: 8,643,601	D462E	possibly damaging	Het
Ubqln3	T	G	7: 104,141,963	T307P	probably damaging	Het
Vmn1r64	A	T	7: 5,883,728	I272K	probably benign	Het
Xpr1	T	C	1: 155,290,280	T574A	probably benign	Het
Zfc3h1	A	G	10: 115,411,954	T1021A	possibly damaging	Het

Other mutations in Zfp512

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01540:Zfp512	APN	5	31473496	missense	probably damaging	1.00
PIT4504001:Zfp512	UTSW	5	31476881	critical splice donor site	probably null
R2054:Zfp512	UTSW	5	31465449	missense	probably benign	0.03
R2228:Zfp512	UTSW	5	31465575	missense	probably damaging	1.00
R2679:Zfp512	UTSW	5	31465454	missense	probably benign	0.00
R2982:Zfp512	UTSW	5	31476778	splice site	probably null
R3855:Zfp512	UTSW	5	31480249	missense	possibly damaging	0.88
R3857:Zfp512	UTSW	5	31472840	missense	probably damaging	1.00
R3858:Zfp512	UTSW	5	31472840	missense	probably damaging	1.00
R4603:Zfp512	UTSW	5	31480226	missense	probably benign	0.07
R4827:Zfp512	UTSW	5	31472814	missense	probably benign	0.16
R4915:Zfp512	UTSW	5	31476865	missense	probably damaging	1.00
R4918:Zfp512	UTSW	5	31476865	missense	probably damaging	1.00
R5906:Zfp512	UTSW	5	31480064	missense	probably damaging	1.00
R6520:Zfp512	UTSW	5	31466640	missense	probably damaging	1.00
R7508:Zfp512	UTSW	5	31473539	missense	possibly damaging	0.95
R8485:Zfp512	UTSW	5	31480057	missense	probably damaging	0.98
R8513:Zfp512	UTSW	5	31480081	missense	probably damaging	0.98
R8768:Zfp512	UTSW	5	31473538	missense	probably damaging	0.98
R8795:Zfp512	UTSW	5	31476790	missense	probably damaging	1.00
R9055:Zfp512	UTSW	5	31480189	nonsense	probably null
R9214:Zfp512	UTSW	5	31480090	missense	probably damaging	1.00
R9440:Zfp512	UTSW	5	31471015	missense	possibly damaging	0.92
R9551:Zfp512	UTSW	5	31466332	missense	probably benign
R9552:Zfp512	UTSW	5	31466332	missense	probably benign
R9635:Zfp512	UTSW	5	31466325	missense	probably benign	0.02

Posted On

2015-04-16