Mutagenetix > Incidental Mutations

Incidental Mutation 'R1224:Zfp52'

152849

Institutional Source

Beutler Lab

Gene Symbol

Zfp52

Ensembl Gene

ENSMUSG00000051341

Gene Name

zinc finger protein 52

Synonyms

KRAB11, Zfp-52, zfec29, Zfp76

MMRRC Submission

039293-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.179) question?

Stock #

R1224 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

21555046-21562066 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21555062 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 6 (V6A)

Ref Sequence

ENSEMBL: ENSMUSP00000078233 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000079242
AA Change: V6A

PolyPhen 2 Score 0.697 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000078233
Gene: ENSMUSG00000051341
AA Change: V6A

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: 93.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	A	15: 8,178,385	C207S	probably benign	Het
Abca8a	T	A	11: 110,040,582	E1248D	probably damaging	Het
Abcb10	C	T	8: 123,962,052	G495D	probably damaging	Het
Aldh16a1	T	C	7: 45,142,047		probably null	Het
Aldh9a1	T	A	1: 167,352,658	I107N	probably damaging	Het
Atp6ap1l	G	A	13: 90,886,556	Q236*	probably null	Het
Ccdc39	T	C	3: 33,826,480	K446R	probably damaging	Het
Cd46	A	T	1: 195,062,398	I344K	possibly damaging	Het
Ces3a	A	T	8: 105,051,509	D204V	probably damaging	Het
Clstn3	T	C	6: 124,457,919	S346G	probably benign	Het
Dock1	A	G	7: 135,108,819	D1190G	possibly damaging	Het
Gimap8	G	A	6: 48,650,695	S201N	probably benign	Het
Gm10153	A	G	7: 142,190,335	S19P	unknown	Het
Igfn1	A	G	1: 135,969,756	V1024A	probably benign	Het
Kcng3	A	G	17: 83,631,395	L75P	probably damaging	Het
Krt31	C	T	11: 100,049,864		probably null	Het
Ly6a	A	G	15: 74,996,478	V54A	possibly damaging	Het
Map3k7cl	T	A	16: 87,556,003	D21E	probably benign	Het
Olfr1537	G	C	9: 39,238,251	P58A	probably benign	Het
Rapsn	T	C	2: 91,043,198	L230P	probably damaging	Het
Rhog	C	A	7: 102,239,752	V165F	possibly damaging	Het
Slc44a4	T	C	17: 34,921,868	V313A	probably benign	Het
Sox14	G	C	9: 99,875,115	H190Q	probably damaging	Het
Sval2	G	A	6: 41,864,254	D103N	probably benign	Het
Tm9sf3	A	T	19: 41,223,195	V403D	probably damaging	Het
Tmem269	T	C	4: 119,217,126	K18R	probably benign	Het
Unc80	T	C	1: 66,471,980	F49S	probably damaging	Het
Zdhhc7	T	A	8: 120,082,572	T299S	probably benign	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
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
R4273: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

Predicted Primers

PCR Primer
(F):5'- TTGGGTCATTGACCAGAGTCGAGG -3'
(R):5'- AGGCATGGAGTGCTGACATTCAAAG -3'

Sequencing Primer
(F):5'- GACCAGAGTCGAGGTTTTTTTC -3'
(R):5'- TGAGTCCAAGCCCAAGTGTATG -3'

Posted On

2014-01-29