Mutagenetix > Incidental Mutation

Incidental Mutation 'R4273:Zfp52'

322299

Institutional Source

Beutler Lab

Gene Symbol

Zfp52

Ensembl Gene

ENSMUSG00000051341

Gene Name

zinc finger protein 52

Synonyms

KRAB11, Zfp-52, zfec29, Zfp76

MMRRC Submission

041645-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

R4273 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

21555046-21562066 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 21560197 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 102 (Y102*)

Ref Sequence

ENSEMBL: ENSMUSP00000078233 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079242]

AlphaFold

Q8BJ45

Predicted Effect

probably null
Transcript: ENSMUST00000079242
AA Change: Y102*

SMART Domains

Protein: ENSMUSP00000078233
Gene: ENSMUSG00000051341
AA Change: Y102*

Domain	Start	End	E-Value	Type
KRAB	13	73	3.79e-24	SMART
ZnF_C2H2	186	208	1.79e-2	SMART
ZnF_C2H2	214	236	5.07e0	SMART
ZnF_C2H2	242	264	2.29e1	SMART
ZnF_C2H2	270	292	2.36e-2	SMART
ZnF_C2H2	298	320	4.72e-2	SMART
ZnF_C2H2	326	348	1.77e1	SMART
ZnF_C2H2	382	404	1.12e-3	SMART
ZnF_C2H2	410	432	1.34e2	SMART
ZnF_C2H2	438	460	1.06e-4	SMART
ZnF_C2H2	466	488	6.99e-5	SMART
ZnF_C2H2	494	516	4.17e-3	SMART
ZnF_C2H2	522	544	5.5e-3	SMART
ZnF_C2H2	550	572	8.47e-4	SMART
ZnF_C2H2	578	600	1.01e-1	SMART
ZnF_C2H2	606	628	9.73e-4	SMART
ZnF_C2H2	634	656	4.17e-3	SMART
ZnF_C2H2	662	684	6.32e-3	SMART
ZnF_C2H2	690	712	1.69e-3	SMART

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.7%
20x: 96.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acer2	T	A	4: 86,874,598		probably null	Het
Adgrf2	T	A	17: 42,710,122	T604S	probably damaging	Het
Akap8l	T	A	17: 32,321,931	K533*	probably null	Het
Appbp2	T	C	11: 85,234,676	Y45C	probably damaging	Het
Arap2	T	C	5: 62,670,979	I950V	possibly damaging	Het
Arhgap31	T	C	16: 38,602,335	E1123G	possibly damaging	Het
Atp2c1	G	T	9: 105,435,140	N493K	probably benign	Het
Bcr	T	C	10: 75,125,111	I458T	probably damaging	Het
Brd4	G	A	17: 32,214,782	T468I	probably benign	Het
Cdh23	T	A	10: 60,311,161	D2774V	possibly damaging	Het
Cfdp1	T	C	8: 111,768,785	Y267C	probably damaging	Het
Chd6	C	A	2: 160,961,291	A2156S	probably benign	Het
Dazap2	C	A	15: 100,618,090	P100T	probably damaging	Het
Disp1	T	A	1: 183,087,644	I1071F	possibly damaging	Het
Dlgap1	T	A	17: 70,766,043	S686T	probably benign	Het
Dst	C	T	1: 34,192,340	R3183C	possibly damaging	Het
Enpp4	T	C	17: 44,101,807	N279D	probably benign	Het
Exoc3l	T	C	8: 105,289,961	*740W	probably null	Het
Exoc5	A	T	14: 49,015,480	C625*	probably null	Het
Fam98b	A	T	2: 117,260,231	N137Y	possibly damaging	Het
Fat4	T	A	3: 38,891,627	D1556E	probably damaging	Het
Fcer2a	C	A	8: 3,682,848	V319L	possibly damaging	Het
Fer1l6	T	C	15: 58,627,522	V1247A	probably benign	Het
Fmo4	A	G	1: 162,805,179	V201A	probably damaging	Het
Fras1	G	A	5: 96,614,904	G755D	probably benign	Het
Gm13078	A	T	4: 143,726,846	K175*	probably null	Het
Grid2	T	C	6: 63,909,045	Y142H	probably damaging	Het
Hspg2	C	T	4: 137,518,940	R1010C	probably damaging	Het
Ibtk	T	C	9: 85,726,731	Q376R	probably damaging	Het
Impdh2	T	C	9: 108,564,956	M414T	probably damaging	Het
Itm2c	A	G	1: 85,907,029	T160A	probably damaging	Het
Kcna2	T	A	3: 107,105,193	D363E	probably benign	Het
Lama2	C	T	10: 27,347,054	C412Y	probably damaging	Het
Lims2	C	G	18: 31,956,337	T151S	probably benign	Het
Mier1	T	C	4: 103,162,431	S423P	possibly damaging	Het
Mrgpra3	A	T	7: 47,589,432	W249R	probably benign	Het
Mtor	A	G	4: 148,550,152	H2410R	probably benign	Het
Mvp	C	T	7: 126,989,703	A631T	probably benign	Het
Nepro	T	C	16: 44,735,829	V450A	possibly damaging	Het
Ngrn	T	C	7: 80,264,521	V140A	probably damaging	Het
Nobox	T	C	6: 43,306,008	E231G	probably benign	Het
Olfr129	A	T	17: 38,055,272	I98N	probably damaging	Het
P3h2	T	A	16: 26,105,221	I155F	probably benign	Het
Pcdha3	C	T	18: 36,948,091	R629C	probably damaging	Het
Riok3	AGAAGCGG	AG	18: 12,135,941		probably benign	Het
Rttn	T	C	18: 89,091,896	I1675T	probably benign	Het
Sall2	C	A	14: 52,313,803	R643L	probably damaging	Het
Slc35f4	G	T	14: 49,304,301	T182N	possibly damaging	Het
Slc52a3	T	A	2: 152,005,740	I256N	possibly damaging	Het
Sox9	T	C	11: 112,785,154	S390P	possibly damaging	Het
Tango2	T	C	16: 18,302,790		probably benign	Het
Tas1r1	T	C	4: 152,032,157	E340G	possibly damaging	Het
Tek	G	A	4: 94,829,970	G524R	probably damaging	Het
Tmem260	A	T	14: 48,505,304	Y532F	probably benign	Het
Tsks	C	A	7: 44,957,929	L559I	probably damaging	Het
Unc79	C	A	12: 103,122,353	L1702I	probably damaging	Het
Vmn1r14	T	A	6: 57,234,148	I237N	probably damaging	Het
Vmn2r17	G	A	5: 109,452,966	C710Y	probably benign	Het
Zfp119b	G	T	17: 55,938,926	T420K	possibly damaging	Het
Zfp202	C	T	9: 40,207,494	R68*	probably null	Het
Zfp229	T	A	17: 21,746,821	S677R	probably benign	Het
Zfp462	C	T	4: 55,008,411	H126Y	probably benign	Het
Zfp616	T	A	11: 74,083,700	M265K	probably benign	Het
Zfyve9	A	T	4: 108,680,976	I1031N	probably damaging	Het
Zmynd11	T	C	13: 9,697,690	Y203C	probably damaging	Het

Other mutations in Zfp52

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01752:Zfp52	APN	17	21560150	missense	probably benign	0.12
PIT4449001:Zfp52	UTSW	17	21557216	missense	probably damaging	1.00
R0270:Zfp52	UTSW	17	21561302	missense	probably damaging	1.00
R0674:Zfp52	UTSW	17	21561846	missense	probably damaging	1.00
R1224:Zfp52	UTSW	17	21555062	missense	possibly damaging	0.70
R1248:Zfp52	UTSW	17	21560049	missense	probably damaging	1.00
R1622:Zfp52	UTSW	17	21561571	missense	probably benign	0.00
R1663:Zfp52	UTSW	17	21561822	missense	possibly damaging	0.59
R1917:Zfp52	UTSW	17	21560164	missense	probably benign
R4272:Zfp52	UTSW	17	21560197	nonsense	probably null
R4278:Zfp52	UTSW	17	21561870	missense	probably benign
R4683:Zfp52	UTSW	17	21561507	missense	probably benign	0.31
R4865:Zfp52	UTSW	17	21561243	missense	probably damaging	1.00
R4964:Zfp52	UTSW	17	21560403	missense	probably benign	0.04
R4966:Zfp52	UTSW	17	21560403	missense	probably benign	0.04
R5430:Zfp52	UTSW	17	21555067	missense	probably benign	0.01
R5685:Zfp52	UTSW	17	21561751	missense	probably benign	0.15
R6133:Zfp52	UTSW	17	21560471	missense	probably damaging	1.00
R6882:Zfp52	UTSW	17	21555047	start codon destroyed	probably null	1.00
R7083:Zfp52	UTSW	17	21560130	missense	possibly damaging	0.86
R7439:Zfp52	UTSW	17	21560870	nonsense	probably null
R7456:Zfp52	UTSW	17	21561353	missense	probably damaging	1.00
R7740:Zfp52	UTSW	17	21560990	missense	probably damaging	1.00
R8196:Zfp52	UTSW	17	21561894	missense	possibly damaging	0.45
R8930:Zfp52	UTSW	17	21560430	missense	possibly damaging	0.48
R8932:Zfp52	UTSW	17	21560430	missense	possibly damaging	0.48
R9033:Zfp52	UTSW	17	21560393	missense	possibly damaging	0.67
R9510:Zfp52	UTSW	17	21561956	missense	possibly damaging	0.49
R9645:Zfp52	UTSW	17	21561675	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- TGAGTGAGTTCCATTCCAAAGC -3'
(R):5'- AATGGTCATCATGTTCATCCTGC -3'

Sequencing Primer
(F):5'- CAAGCCCTATTAATCTGAGTTGTAC -3'
(R):5'- GGTCATCATGTTCATCCTGCTTGTG -3'

Posted On

2015-06-20