Mutagenetix > Incidental Mutation

Incidental Mutation 'R2054:Zfp512'

226512

Institutional Source

Beutler Lab

Gene Symbol

Zfp512

Ensembl Gene

ENSMUSG00000062761

Gene Name

zinc finger protein 512

Synonyms

2500002M11Rik

MMRRC Submission

040059-MU

Accession Numbers

Essential gene?

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

Stock #

R2054 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31609775-31639098 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 31622793 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 31 (N31K)

Ref Sequence

ENSEMBL: ENSMUSP00000143860 (fasta)

Gene Model

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

AlphaFold

Q69Z99

Predicted Effect

probably benign
Transcript: ENSMUST00000076264
AA Change: N31K

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000075613
Gene: ENSMUSG00000062761
AA Change: N31K

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

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
AA Change: N31K

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000143860
Gene: ENSMUSG00000062761
AA Change: N31K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202437

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

99% (67/68)

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
2300003K06Rik	A	T	11: 99,728,562 (GRCm39)	C94S	possibly damaging	Het
A930011G23Rik	T	C	5: 99,375,914 (GRCm39)	Y432C	probably benign	Het
Abtb2	A	G	2: 103,535,462 (GRCm39)	D543G	probably benign	Het
Adam9	A	T	8: 25,481,310 (GRCm39)	V318E	probably damaging	Het
Aim2	T	C	1: 173,291,548 (GRCm39)	F318L	probably damaging	Het
Apob	A	T	12: 8,063,134 (GRCm39)	D3872V	probably damaging	Het
Atat1	T	A	17: 36,212,261 (GRCm39)	R323W	probably null	Het
Atp2b4	T	C	1: 133,642,907 (GRCm39)	D1066G	probably benign	Het
Bltp1	A	G	3: 37,002,002 (GRCm39)	T1316A	probably benign	Het
Caskin2	T	C	11: 115,697,127 (GRCm39)		probably benign	Het
Cblif	G	A	19: 11,736,370 (GRCm39)	V314I	probably benign	Het
Ccdc54	T	A	16: 50,410,987 (GRCm39)	N93I	probably damaging	Het
Ccnd1	A	C	7: 144,491,128 (GRCm39)	D159E	possibly damaging	Het
Cnot1	A	C	8: 96,466,469 (GRCm39)	S1589R	possibly damaging	Het
Copa	T	A	1: 171,946,524 (GRCm39)	Y980*	probably null	Het
Defb19	A	G	2: 152,418,090 (GRCm39)	I82T	possibly damaging	Het
Elapor2	C	A	5: 9,513,030 (GRCm39)	T1008K	possibly damaging	Het
Fiz1	G	A	7: 5,011,235 (GRCm39)	R428C	probably damaging	Het
Fnip2	A	T	3: 79,479,772 (GRCm39)		probably benign	Het
Gabrb3	G	A	7: 57,474,241 (GRCm39)	G408S	probably benign	Het
Hao1	C	T	2: 134,340,178 (GRCm39)		silent	Het
Hecw1	T	A	13: 14,471,998 (GRCm39)	M557L	probably damaging	Het
Itch	A	T	2: 155,052,496 (GRCm39)	I699F	probably damaging	Het
Kmt2a	T	C	9: 44,734,671 (GRCm39)		probably benign	Het
Leng8	T	G	7: 4,147,289 (GRCm39)	Y562*	probably null	Het
Lonrf2	G	A	1: 38,852,357 (GRCm39)	P165S	probably benign	Het
Lrp1b	A	T	2: 40,587,494 (GRCm39)	N151K	unknown	Het
Lrrc71	T	C	3: 87,649,980 (GRCm39)	E316G	probably damaging	Het
Mgat5	A	G	1: 127,325,344 (GRCm39)	N404D	probably damaging	Het
Mrps26	C	A	2: 130,406,087 (GRCm39)	T100K	probably benign	Het
Mtor	A	G	4: 148,547,309 (GRCm39)	T431A	probably benign	Het
Mtor	T	A	4: 148,550,482 (GRCm39)	C713S	probably benign	Het
Mug2	A	G	6: 122,054,451 (GRCm39)	K1077E	probably damaging	Het
Nbas	A	G	12: 13,524,207 (GRCm39)	T1688A	probably benign	Het
Nek2	T	C	1: 191,553,764 (GRCm39)	S3P	possibly damaging	Het
Nell2	T	C	15: 95,332,990 (GRCm39)	T190A	probably benign	Het
Npr2	A	T	4: 43,646,560 (GRCm39)	N636I	probably damaging	Het
Orc3	A	T	4: 34,584,846 (GRCm39)	I453K	probably damaging	Het
Pcnx1	A	G	12: 81,980,448 (GRCm39)	H865R	probably benign	Het
Pex1	T	C	5: 3,653,341 (GRCm39)	V80A	possibly damaging	Het
Phka2	T	A	X: 159,337,323 (GRCm39)	D424E	probably damaging	Het
Pkd1	C	T	17: 24,793,770 (GRCm39)	T1819I	probably benign	Het
Poglut1	T	C	16: 38,355,169 (GRCm39)	D219G	probably damaging	Het
Ppargc1a	T	C	5: 51,631,130 (GRCm39)	I500V	possibly damaging	Het
Pwwp4a	G	T	X: 72,171,261 (GRCm39)	G218C	probably damaging	Het
Pygm	C	G	19: 6,438,185 (GRCm39)	N163K	probably benign	Het
Qrich1	T	A	9: 108,436,469 (GRCm39)	N722K	possibly damaging	Het
Reep6	T	A	10: 80,166,156 (GRCm39)	C104*	probably null	Het
Rfx8	A	G	1: 39,724,719 (GRCm39)	V214A	possibly damaging	Het
Sis	G	A	3: 72,820,570 (GRCm39)	T1398I	probably benign	Het
Skint5	A	G	4: 113,676,360 (GRCm39)		probably null	Het
Slc7a14	A	G	3: 31,291,511 (GRCm39)		probably benign	Het
Smc2	T	A	4: 52,462,948 (GRCm39)	M646K	probably benign	Het
Snx29	A	G	16: 11,449,356 (GRCm39)	N165S	probably damaging	Het
Supt6	T	A	11: 78,115,187 (GRCm39)		probably benign	Het
Tead4	G	T	6: 128,247,925 (GRCm39)	S37R	probably damaging	Het
Tedc2	T	A	17: 24,435,291 (GRCm39)	E366V	probably damaging	Het
Tedc2	C	A	17: 24,435,292 (GRCm39)	E366*	probably null	Het
Tex56	T	A	13: 35,108,574 (GRCm39)	Y19N	probably damaging	Het
Tff2	T	C	17: 31,362,199 (GRCm39)	K40E	probably benign	Het
Traip	C	T	9: 107,840,118 (GRCm39)	T265M	probably benign	Het
Trim47	T	C	11: 115,999,109 (GRCm39)	T256A	probably benign	Het
Trpm1	A	G	7: 63,890,303 (GRCm39)	M853V	possibly damaging	Het
Tti1	G	T	2: 157,849,365 (GRCm39)	Q625K	possibly damaging	Het
Ube2n	A	G	10: 95,377,128 (GRCm39)	N31S	probably damaging	Het
Vmn2r17	T	C	5: 109,600,352 (GRCm39)	M550T	probably damaging	Het
Zfp64	A	G	2: 168,767,728 (GRCm39)	V628A	probably 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
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
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'- AAGAGGAATTGTGTACACTGTGTTG -3'
(R):5'- GGCAGCAGGCTTGATTCTTC -3'

Sequencing Primer
(F):5'- ATTGTGTACACTGTGTTGAATTGAC -3'
(R):5'- GCAGCAGGCTTGATTCTTCTCATC -3'

Posted On

2014-09-17