Mutagenetix > Incidental Mutation

Incidental Mutation 'R9214:Zfp512'

699053

Institutional Source

Beutler Lab

Gene Symbol

Zfp512

Ensembl Gene

ENSMUSG00000062761

Gene Name

zinc finger protein 512

Synonyms

2500002M11Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9214 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

31609775-31639098 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 31637434 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 508 (R508W)

Ref Sequence

ENSEMBL: ENSMUSP00000075613 (fasta)

Gene Model

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

AlphaFold

Q69Z99

Predicted Effect

probably damaging
Transcript: ENSMUST00000076264
AA Change: R508W

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

SMART Domains

Protein: ENSMUSP00000075613
Gene: ENSMUSG00000062761
AA Change: R508W

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: ENSMUST00000202244
AA Change: R452W

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

SMART Domains

Protein: ENSMUSP00000143860
Gene: ENSMUSG00000062761
AA Change: R452W

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (64/64)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	T	C	9: 55,890,653 (GRCm39)	D352G	probably benign	Het
Abi1	A	T	2: 22,831,989 (GRCm39)	Y447*	probably null	Het
Acot1	A	G	12: 84,064,189 (GRCm39)	Y124C		Het
Adgrf4	T	C	17: 42,978,704 (GRCm39)	N213S	possibly damaging	Het
Alg9	T	A	9: 50,717,545 (GRCm39)	Y443N	probably damaging	Het
Bhlhe22	A	G	3: 18,109,024 (GRCm39)	T25A	probably benign	Het
Bpifa1	C	A	2: 153,985,789 (GRCm39)	P35T	unknown	Het
Btbd16	T	C	7: 130,381,437 (GRCm39)		probably null	Het
Ccdc187	G	T	2: 26,183,409 (GRCm39)	T197K	probably benign	Het
Cd209b	A	G	8: 3,968,771 (GRCm39)	V295A	probably benign	Het
Cdcp3	C	T	7: 130,824,481 (GRCm39)	S192L	possibly damaging	Het
Clrn2	G	T	5: 45,617,518 (GRCm39)	A130S	probably benign	Het
Cnrip1	A	G	11: 17,004,740 (GRCm39)	T97A	probably damaging	Het
Col15a1	G	C	4: 47,288,200 (GRCm39)		probably benign	Het
Col6a5	T	C	9: 105,758,940 (GRCm39)	T2089A	possibly damaging	Het
Cyfip1	T	A	7: 55,523,273 (GRCm39)		probably null	Het
Ddx1	A	G	12: 13,286,119 (GRCm39)	S278P	probably benign	Het
Dnah12	A	C	14: 26,445,060 (GRCm39)	E654D	probably benign	Het
Efcab7	T	C	4: 99,735,437 (GRCm39)	S154P	probably damaging	Het
Emcn	T	C	3: 137,047,029 (GRCm39)	F10S	probably damaging	Het
Fhip2a	A	G	19: 57,373,756 (GRCm39)	H672R	probably damaging	Het
Flg2	G	T	3: 93,110,884 (GRCm39)	A971S	unknown	Het
Gli2	A	T	1: 118,795,791 (GRCm39)	H121Q	probably damaging	Het
Gm3633	A	G	14: 42,460,359 (GRCm39)		probably benign	Het
Golga2	T	C	2: 32,195,822 (GRCm39)	L846P	probably damaging	Het
Golga7b	A	T	19: 42,255,440 (GRCm39)	I106F	probably damaging	Het
Hltf	T	C	3: 20,140,280 (GRCm39)	S460P	probably benign	Het
Hyal5	A	G	6: 24,876,403 (GRCm39)	Y92C	probably damaging	Het
Kif19b	G	A	5: 140,468,257 (GRCm39)	R649Q	probably benign	Het
Mapk1	T	A	16: 16,853,549 (GRCm39)	C84S	probably benign	Het
Marchf10	A	G	11: 105,281,100 (GRCm39)	V395A	probably benign	Het
Meltf	A	G	16: 31,697,763 (GRCm39)	T7A	probably benign	Het
Mfhas1	T	A	8: 36,057,730 (GRCm39)	V735D	probably damaging	Het
Mia2	G	T	12: 59,223,150 (GRCm39)	R486L	possibly damaging	Het
Mmp20	T	C	9: 7,628,327 (GRCm39)	L25P	probably benign	Het
Mprip	C	T	11: 59,650,901 (GRCm39)	T1535I	possibly damaging	Het
Mrpl9	T	A	3: 94,355,126 (GRCm39)	S233T	possibly damaging	Het
Muc21	T	A	17: 35,931,838 (GRCm39)	S783C	unknown	Het
Nckap5	A	C	1: 125,942,376 (GRCm39)	V1576G	probably benign	Het
Ntng1	T	C	3: 109,841,921 (GRCm39)	Y284C	probably damaging	Het
Numa1	T	A	7: 101,650,139 (GRCm39)	V1290D	probably damaging	Het
Or52l1	T	G	7: 104,829,587 (GRCm39)	Y326S	probably benign	Het
Pcdhgc4	A	T	18: 37,950,264 (GRCm39)	D560V	probably damaging	Het
Pla2g1b	A	G	5: 115,610,107 (GRCm39)	K84E	possibly damaging	Het
Pramel16	T	C	4: 143,675,750 (GRCm39)	I359V	probably benign	Het
Prrt4	C	T	6: 29,170,767 (GRCm39)	A562T	possibly damaging	Het
Rab6a	T	C	7: 100,275,786 (GRCm39)	F33S	probably damaging	Het
Rgs11	A	G	17: 26,427,260 (GRCm39)	Y397C	probably damaging	Het
Rnf43	A	T	11: 87,622,111 (GRCm39)	H277L	probably benign	Het
Ryr1	A	G	7: 28,785,187 (GRCm39)	S1842P	possibly damaging	Het
Slc25a34	C	T	4: 141,350,641 (GRCm39)	A123T	probably damaging	Het
Smoc2	A	G	17: 14,556,839 (GRCm39)	Y96C	probably damaging	Het
Sqle	A	G	15: 59,194,765 (GRCm39)	E267G	probably benign	Het
Sspo	G	A	6: 48,440,869 (GRCm39)	R1777H	possibly damaging	Het
Stx6	T	A	1: 155,067,210 (GRCm39)	N133K	probably benign	Het
Taf7l2	T	C	10: 115,948,903 (GRCm39)	T208A	probably benign	Het
Thoc5	A	T	11: 4,864,303 (GRCm39)	Q320L	probably benign	Het
Tmc4	G	C	7: 3,670,497 (GRCm39)	C531W	probably damaging	Het
Tmigd1	A	G	11: 76,801,031 (GRCm39)	T173A	probably damaging	Het
Tpp2	A	C	1: 44,031,514 (GRCm39)	M1111L	probably benign	Het
Ttc21a	T	C	9: 119,772,941 (GRCm39)	V206A	probably benign	Het
Ulk1	A	T	5: 110,936,663 (GRCm39)	V758E	possibly damaging	Het
Vdr	T	A	15: 97,767,600 (GRCm39)	H130L	probably benign	Het
Vps13b	A	G	15: 35,623,892 (GRCm39)	T1270A	probably damaging	Het
Zc3h13	A	G	14: 75,560,991 (GRCm39)	D527G	unknown	Het
Zfp606	A	G	7: 12,215,026 (GRCm39)	T85A	unknown	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
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
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'- CCTTTATGGGGTTCCTGAGC -3'
(R):5'- TGAAAGCATCTTCACCCAGC -3'

Sequencing Primer
(F):5'- ATGGGGTTCCTGAGCAGTCC -3'
(R):5'- TGCATCACATCTGCAGAGC -3'

Posted On

2022-02-07