Mutagenetix > Incidental Mutation

Incidental Mutation 'R3858:Zfp512'

276249

Institutional Source

Beutler Lab

Gene Symbol

Zfp512

Ensembl Gene

ENSMUSG00000062761

Gene Name

zinc finger protein 512

Synonyms

MMRRC Submission

040786-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.261) question?

Stock #

R3858 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31452431-31481754 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 31472840 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 222 (R222L)

Ref Sequence

ENSEMBL: ENSMUSP00000143874 (fasta)

Gene Model

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

AlphaFold

Q69Z99

Predicted Effect

possibly damaging
Transcript: ENSMUST00000076264
AA Change: R339L

PolyPhen 2 Score 0.549 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000075613
Gene: ENSMUSG00000062761
AA Change: R339L

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: R222L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000143874
Gene: ENSMUSG00000062761
AA Change: R222L

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

possibly damaging
Transcript: ENSMUST00000201450
AA Change: R185L

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000144433
Gene: ENSMUSG00000062761
AA Change: R185L

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

possibly damaging
Transcript: ENSMUST00000202244
AA Change: R283L

PolyPhen 2 Score 0.646 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000143860
Gene: ENSMUSG00000062761
AA Change: R283L

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

0.2947

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.7%
20x: 96.1%

Validation Efficiency

97% (36/37)

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	A	5: 8,813,581	S179T	probably benign	Het
Ahnak	A	G	19: 9,010,859	E3169G	possibly damaging	Het
Ccdc82	G	A	9: 13,252,079		probably benign	Het
Ccng1	A	G	11: 40,753,833	L79P	probably damaging	Het
Cd2ap	G	A	17: 42,816,572	Q377*	probably null	Het
Celf1	A	G	2: 91,012,741	E411G	probably damaging	Het
Cps1	A	G	1: 67,168,278	Y582C	probably damaging	Het
Efhb	A	G	17: 53,462,780	L167S	possibly damaging	Het
Erc2	A	G	14: 28,475,642		probably benign	Het
Hs3st1	G	A	5: 39,614,913	T129I	probably damaging	Het
Irs4	T	C	X: 141,724,063	E379G	probably damaging	Het
Kcnmb2	T	C	3: 32,198,301	V217A	probably damaging	Het
Megf10	T	C	18: 57,275,835		probably benign	Het
Mib1	T	A	18: 10,798,409	C757S	possibly damaging	Het
Mtmr4	G	A	11: 87,597,262	V24M	probably damaging	Het
Obscn	A	G	11: 59,080,969		probably benign	Het
Olfr103	A	T	17: 37,337,226	L2*	probably null	Het
Olfr1475	T	A	19: 13,480,130	I23F	possibly damaging	Het
Pirb	T	C	7: 3,717,663	K279E	possibly damaging	Het
Pmp22	T	C	11: 63,134,475	S45P	probably benign	Het
Pth2r	A	T	1: 65,322,047	I52F	probably damaging	Het
Reck	A	G	4: 43,930,261	T612A	probably benign	Het
Rtn4rl2	A	G	2: 84,880,386		probably null	Het
Sis	A	G	3: 72,928,652	I868T	probably damaging	Het
Slc23a3	A	G	1: 75,129,396		probably null	Het
Slc4a1	A	T	11: 102,357,121	V349E	probably benign	Het
Thsd7a	C	T	6: 12,555,226	G220S	probably benign	Het
Tle4	G	A	19: 14,468,213	T223I	probably benign	Het
Tmem2	A	G	19: 21,852,234	T1236A	probably benign	Het
Tmem29	T	C	X: 150,420,361	Q39R	probably benign	Het
Tor3a	T	A	1: 156,669,554	L140F	probably damaging	Het
Vmn2r86	A	G	10: 130,455,725	M57T	probably benign	Het

Other mutations in Zfp512

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01540:Zfp512	APN	5	31473496	missense	probably damaging	1.00
IGL02657:Zfp512	APN	5	31471157	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
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

Predicted Primers

PCR Primer
(F):5'- CGGCTTACCCTCATATGTGG -3'
(R):5'- TCCATACTGGGAAGCATTCTAC -3'

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

Posted On

2015-04-06