Mutagenetix > Incidental Mutation

Incidental Mutation 'R1663:Zfp52'

186966

Institutional Source

Beutler Lab

Gene Symbol

Zfp52

Ensembl Gene

ENSMUSG00000051341

Gene Name

zinc finger protein 52

Synonyms

Zfp-52, KRAB11, Zfp76, zfec29

MMRRC Submission

039699-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.136) question?

Stock #

R1663 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

21755801-21782863 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21782084 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 644 (L644P)

Ref Sequence

ENSEMBL: ENSMUSP00000078233 (fasta)

Gene Model

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

AlphaFold

Q8BJ45

Predicted Effect

possibly damaging
Transcript: ENSMUST00000079242
AA Change: L644P

PolyPhen 2 Score 0.593 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000078233
Gene: ENSMUSG00000051341
AA Change: L644P

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam3	T	A	8: 25,177,949 (GRCm39)	T11S	probably benign	Het
Adgb	T	C	10: 10,215,419 (GRCm39)	M1529V	possibly damaging	Het
Ankrd36	T	A	11: 5,570,126 (GRCm39)	D531E	possibly damaging	Het
Ankzf1	C	T	1: 75,172,914 (GRCm39)	P337S	probably damaging	Het
Apc	A	G	18: 34,401,378 (GRCm39)	I55V	probably damaging	Het
Aplnr	A	G	2: 84,967,038 (GRCm39)	D21G	possibly damaging	Het
Apol10b	A	T	15: 77,472,914 (GRCm39)	F47I	probably damaging	Het
Arhgef5	G	A	6: 43,253,899 (GRCm39)	A1131T	probably damaging	Het
Arrb2	A	T	11: 70,328,429 (GRCm39)	Q83L	probably damaging	Het
Atf7ip	A	G	6: 136,580,322 (GRCm39)	Q1082R	possibly damaging	Het
Atl2	A	G	17: 80,172,140 (GRCm39)	S28P	probably damaging	Het
Brd7	T	C	8: 89,084,651 (GRCm39)	K89E	possibly damaging	Het
Cc2d1b	A	G	4: 108,480,744 (GRCm39)	T55A	probably damaging	Het
Ccdc18	A	G	5: 108,363,956 (GRCm39)	E1217G	probably damaging	Het
Cdc42ep4	A	T	11: 113,620,277 (GRCm39)	M38K	probably damaging	Het
Cldn14	A	G	16: 93,716,166 (GRCm39)	S227P	probably damaging	Het
Clspn	T	A	4: 126,459,768 (GRCm39)	C332S	probably benign	Het
Col5a1	T	C	2: 27,841,488 (GRCm39)	S370P	unknown	Het
Comp	T	C	8: 70,826,250 (GRCm39)	L10P	possibly damaging	Het
Dcc	A	T	18: 71,959,123 (GRCm39)	N216K	probably damaging	Het
Dcstamp	C	T	15: 39,618,340 (GRCm39)	Q250*	probably null	Het
Drd5	T	C	5: 38,478,198 (GRCm39)	F397S	probably benign	Het
Dst	T	C	1: 34,202,466 (GRCm39)	S265P	probably damaging	Het
Dync2i1	T	C	12: 116,193,230 (GRCm39)	Q574R	probably benign	Het
Enam	A	T	5: 88,651,853 (GRCm39)	S1046C	probably damaging	Het
Eno3	T	C	11: 70,553,100 (GRCm39)		probably null	Het
Fam13a	G	A	6: 58,931,357 (GRCm39)	R408*	probably null	Het
Gipc2	T	A	3: 151,799,801 (GRCm39)	M310L	probably benign	Het
Gm14496	T	C	2: 181,639,230 (GRCm39)	V440A	probably benign	Het
Gzmg	A	T	14: 56,394,265 (GRCm39)	C210S	probably damaging	Het
Helb	G	T	10: 119,941,338 (GRCm39)	A450E	probably damaging	Het
Hepacam2	A	T	6: 3,483,439 (GRCm39)	I190N	possibly damaging	Het
Hk3	A	T	13: 55,154,388 (GRCm39)	S773T	probably benign	Het
Hnrnpc	A	G	14: 52,312,852 (GRCm39)	S221P	probably damaging	Het
Ifna9	T	C	4: 88,510,220 (GRCm39)	T135A	probably benign	Het
Igfn1	C	T	1: 135,896,046 (GRCm39)	G1507R	probably benign	Het
Kank3	A	G	17: 34,037,349 (GRCm39)	T218A	probably benign	Het
Kcp	G	T	6: 29,498,964 (GRCm39)	R337S	possibly damaging	Het
Krt74	A	T	15: 101,665,109 (GRCm39)		noncoding transcript	Het
Lrp1	A	T	10: 127,392,790 (GRCm39)	D2758E	probably damaging	Het
Ly75	T	C	2: 60,144,578 (GRCm39)	E1295G	probably damaging	Het
Mccc1	C	A	3: 36,033,082 (GRCm39)	W354L	probably damaging	Het
Mmp1a	C	T	9: 7,465,657 (GRCm39)	T198M	probably benign	Het
Mtmr2	C	T	9: 13,714,797 (GRCm39)	T519I	probably damaging	Het
Nbea	A	G	3: 55,553,407 (GRCm39)	S2632P	possibly damaging	Het
Nbn	T	A	4: 15,970,903 (GRCm39)	D295E	probably benign	Het
Ndufb8	T	C	19: 44,538,820 (GRCm39)	Y167C	probably damaging	Het
Nisch	A	G	14: 30,913,478 (GRCm39)		probably benign	Het
Notch3	C	T	17: 32,375,093 (GRCm39)	G407D	probably damaging	Het
Nucb1	A	G	7: 45,148,288 (GRCm39)	F175S	probably damaging	Het
Or1l8	T	G	2: 36,817,346 (GRCm39)	Y260S	probably damaging	Het
Or6c6c	G	A	10: 129,541,160 (GRCm39)	V138M	probably benign	Het
Or7g12	T	A	9: 18,900,006 (GRCm39)	C241S	probably damaging	Het
Or8b44	T	G	9: 38,410,868 (GRCm39)	I301R	unknown	Het
Pip5k1c	T	C	10: 81,148,349 (GRCm39)	V425A	probably damaging	Het
Pnisr	T	A	4: 21,873,857 (GRCm39)		probably benign	Het
Prkag1	A	G	15: 98,713,776 (GRCm39)	V18A	probably damaging	Het
Rad50	T	C	11: 53,559,050 (GRCm39)	N1063S	probably benign	Het
Rnf170	C	T	8: 26,619,171 (GRCm39)	H132Y	probably damaging	Het
Rnf213	A	G	11: 119,328,498 (GRCm39)	D1977G	probably benign	Het
Sema3a	G	A	5: 13,607,092 (GRCm39)		probably null	Het
Setx	T	A	2: 29,016,917 (GRCm39)	C7S	probably damaging	Het
Slc23a2	A	G	2: 131,907,384 (GRCm39)	I417T	probably damaging	Het
Spink6	T	G	18: 44,204,588 (GRCm39)	F18C	unknown	Het
Sptbn1	T	C	11: 30,070,783 (GRCm39)	Q1538R	possibly damaging	Het
Strn3	A	G	12: 51,699,609 (GRCm39)	Y188H	probably damaging	Het
Tecpr1	C	A	5: 144,134,762 (GRCm39)	K1040N	probably benign	Het
Tll1	T	A	8: 64,470,720 (GRCm39)	Y901F	probably benign	Het
Tmem81	C	T	1: 132,435,635 (GRCm39)	A147V	probably benign	Het
Tnpo3	T	C	6: 29,565,758 (GRCm39)	D532G	probably benign	Het
Vmn2r19	T	A	6: 123,313,411 (GRCm39)	I827N	probably benign	Het
Wdr35	A	G	12: 9,070,000 (GRCm39)	K857R	probably benign	Het
Zfp110	A	G	7: 12,582,569 (GRCm39)	T406A	probably benign	Het
Zfp605	G	A	5: 110,275,451 (GRCm39)	V190I	probably benign	Het
Zfp964	A	G	8: 70,116,733 (GRCm39)		probably null	Het
Zmynd8	A	G	2: 165,649,805 (GRCm39)	S779P	probably benign	Het
Zswim5	T	A	4: 116,844,092 (GRCm39)	N1043K	probably damaging	Het

Other mutations in Zfp52

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01752:Zfp52	APN	17	21,780,412 (GRCm39)	missense	probably benign	0.12
PIT4449001:Zfp52	UTSW	17	21,777,478 (GRCm39)	missense	probably damaging	1.00
R0270:Zfp52	UTSW	17	21,781,564 (GRCm39)	missense	probably damaging	1.00
R0674:Zfp52	UTSW	17	21,782,108 (GRCm39)	missense	probably damaging	1.00
R1224:Zfp52	UTSW	17	21,775,324 (GRCm39)	missense	possibly damaging	0.70
R1248:Zfp52	UTSW	17	21,780,311 (GRCm39)	missense	probably damaging	1.00
R1622:Zfp52	UTSW	17	21,781,833 (GRCm39)	missense	probably benign	0.00
R1917:Zfp52	UTSW	17	21,780,426 (GRCm39)	missense	probably benign
R4272:Zfp52	UTSW	17	21,780,459 (GRCm39)	nonsense	probably null
R4273:Zfp52	UTSW	17	21,780,459 (GRCm39)	nonsense	probably null
R4278:Zfp52	UTSW	17	21,782,132 (GRCm39)	missense	probably benign
R4683:Zfp52	UTSW	17	21,781,769 (GRCm39)	missense	probably benign	0.31
R4865:Zfp52	UTSW	17	21,781,505 (GRCm39)	missense	probably damaging	1.00
R4964:Zfp52	UTSW	17	21,780,665 (GRCm39)	missense	probably benign	0.04
R4966:Zfp52	UTSW	17	21,780,665 (GRCm39)	missense	probably benign	0.04
R5430:Zfp52	UTSW	17	21,775,329 (GRCm39)	missense	probably benign	0.01
R5685:Zfp52	UTSW	17	21,782,013 (GRCm39)	missense	probably benign	0.15
R6133:Zfp52	UTSW	17	21,780,733 (GRCm39)	missense	probably damaging	1.00
R6882:Zfp52	UTSW	17	21,775,309 (GRCm39)	start codon destroyed	probably null	1.00
R7083:Zfp52	UTSW	17	21,780,392 (GRCm39)	missense	possibly damaging	0.86
R7439:Zfp52	UTSW	17	21,781,132 (GRCm39)	nonsense	probably null
R7456:Zfp52	UTSW	17	21,781,615 (GRCm39)	missense	probably damaging	1.00
R7740:Zfp52	UTSW	17	21,781,252 (GRCm39)	missense	probably damaging	1.00
R8196:Zfp52	UTSW	17	21,782,156 (GRCm39)	missense	possibly damaging	0.45
R8930:Zfp52	UTSW	17	21,780,692 (GRCm39)	missense	possibly damaging	0.48
R8932:Zfp52	UTSW	17	21,780,692 (GRCm39)	missense	possibly damaging	0.48
R9033:Zfp52	UTSW	17	21,780,655 (GRCm39)	missense	possibly damaging	0.67
R9510:Zfp52	UTSW	17	21,782,218 (GRCm39)	missense	possibly damaging	0.49
R9645:Zfp52	UTSW	17	21,781,937 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

Posted On

2014-05-09