Mutagenetix > Incidental Mutation

Incidental Mutation 'R1622:Zfp52'

174736

Institutional Source

Beutler Lab

Gene Symbol

Zfp52

Ensembl Gene

ENSMUSG00000051341

Gene Name

zinc finger protein 52

Synonyms

Zfp-52, KRAB11, Zfp76, zfec29

MMRRC Submission

039659-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.128) question?

Stock #

R1622 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21755801-21782863 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 21781833 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 560 (M560I)

Ref Sequence

ENSEMBL: ENSMUSP00000078233 (fasta)

Gene Model

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

AlphaFold

Q8BJ45

Predicted Effect

probably benign
Transcript: ENSMUST00000079242
AA Change: M560I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000078233
Gene: ENSMUSG00000051341
AA Change: M560I

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.3%

Validation Efficiency

98% (55/56)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldoart2	A	G	12: 55,612,696 (GRCm39)	E207G	probably benign	Het
Arhgap19	T	A	19: 41,790,412 (GRCm39)	S19C	probably benign	Het
Arhgef18	T	A	8: 3,491,272 (GRCm39)	D374E	possibly damaging	Het
Atf2	A	G	2: 73,684,133 (GRCm39)		probably null	Het
Cadm1	A	G	9: 47,725,139 (GRCm39)	N300S	probably benign	Het
Ccdc159	A	T	9: 21,840,666 (GRCm39)	I78F	possibly damaging	Het
Cdh4	T	C	2: 179,530,885 (GRCm39)	I589T	possibly damaging	Het
Clstn1	T	C	4: 149,713,864 (GRCm39)	I182T	probably damaging	Het
Cnga3	T	A	1: 37,283,909 (GRCm39)		probably benign	Het
Cntln	T	A	4: 84,981,418 (GRCm39)	S865R	probably damaging	Het
Col5a3	C	T	9: 20,683,516 (GRCm39)	G1552E	unknown	Het
Col6a4	A	C	9: 105,874,334 (GRCm39)	S2218A	probably benign	Het
Ephb1	T	C	9: 101,878,910 (GRCm39)	T527A	probably benign	Het
Fkbp15	T	A	4: 62,241,439 (GRCm39)	I569F	possibly damaging	Het
Gabra4	A	G	5: 71,729,329 (GRCm39)	S484P	possibly damaging	Het
Glce	T	C	9: 61,977,843 (GRCm39)	I14V	possibly damaging	Het
Gm4884	A	T	7: 40,692,265 (GRCm39)	Q78L	probably damaging	Het
Gpn1	A	G	5: 31,660,748 (GRCm39)	T180A	possibly damaging	Het
Gpr6	A	T	10: 40,947,288 (GRCm39)	I98N	probably damaging	Het
Hcrtr2	T	C	9: 76,230,722 (GRCm39)	N22S	probably benign	Het
Hfm1	C	T	5: 107,041,389 (GRCm39)	V665I	possibly damaging	Het
Il4ra	T	A	7: 125,169,225 (GRCm39)	I159N	possibly damaging	Het
Irf8	G	C	8: 121,466,561 (GRCm39)	C2S	possibly damaging	Het
Itih2	A	T	2: 10,106,890 (GRCm39)	N701K	probably benign	Het
Lrrc4b	GAGAAG	GAG	7: 44,111,654 (GRCm39)		probably benign	Het
Mmp10	T	A	9: 7,504,996 (GRCm39)	Y263*	probably null	Het
Morc3	T	A	16: 93,671,694 (GRCm39)	M835K	probably benign	Het
Msh3	A	G	13: 92,481,462 (GRCm39)		probably null	Het
Ncbp1	A	G	4: 46,171,963 (GRCm39)	H777R	possibly damaging	Het
Nfatc1	A	G	18: 80,710,182 (GRCm39)	M514T	probably damaging	Het
Nlrp3	T	A	11: 59,439,302 (GRCm39)	I293N	probably damaging	Het
Pank2	A	T	2: 131,115,889 (GRCm39)	E102D	probably damaging	Het
Pbrm1	A	G	14: 30,754,505 (GRCm39)	D175G	probably benign	Het
Pcdh9	T	C	14: 94,123,311 (GRCm39)	D953G	probably benign	Het
Pibf1	G	A	14: 99,423,917 (GRCm39)	V497I	probably benign	Het
Pkd1	G	A	17: 24,800,614 (GRCm39)	M3085I	probably benign	Het
Prss58	A	T	6: 40,874,248 (GRCm39)	C143S	possibly damaging	Het
Rassf8	A	G	6: 145,765,829 (GRCm39)		probably benign	Het
Sp140l2	A	G	1: 85,231,907 (GRCm39)		probably benign	Het
Spag7	T	A	11: 70,555,688 (GRCm39)	D73V	probably damaging	Het
Sult3a1	A	T	10: 33,746,246 (GRCm39)	M189L	probably benign	Het
Syt4	T	C	18: 31,577,069 (GRCm39)	D95G	probably damaging	Het
Tbc1d8	A	C	1: 39,419,317 (GRCm39)	S766A	probably benign	Het
Tmco5	A	T	2: 116,710,796 (GRCm39)	M39L	probably benign	Het
Trcg1	A	G	9: 57,155,955 (GRCm39)	N797S	possibly damaging	Het
Trim34a	A	T	7: 103,910,545 (GRCm39)		probably null	Het
Ubr5	T	C	15: 38,009,357 (GRCm39)		probably benign	Het
Urb2	A	G	8: 124,756,363 (GRCm39)	N690S	probably benign	Het
Zfp445	A	G	9: 122,681,614 (GRCm39)	Y776H	possibly damaging	Het
Zfp608	A	G	18: 55,121,366 (GRCm39)	S74P	probably benign	Het
Zfp629	A	G	7: 127,211,012 (GRCm39)	C266R	probably damaging	Het
Zscan2	A	G	7: 80,525,134 (GRCm39)	K285R	probably benign	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
R1663:Zfp52	UTSW	17	21,782,084 (GRCm39)	missense	possibly damaging	0.59
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

2014-04-24