Mutagenetix > Incidental Mutation

Incidental Mutation 'R7439:Zfp52'

576857

Institutional Source

Beutler Lab

Gene Symbol

Zfp52

Ensembl Gene

ENSMUSG00000051341

Gene Name

zinc finger protein 52

Synonyms

Zfp-52, KRAB11, Zfp76, zfec29

MMRRC Submission

045515-MU

Accession Numbers

Essential gene?

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

Stock #

R7439 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

21755801-21782863 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 21781132 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 327 (R327*)

Ref Sequence

ENSEMBL: ENSMUSP00000078233 (fasta)

Gene Model

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

AlphaFold

Q8BJ45

Predicted Effect

probably null
Transcript: ENSMUST00000079242
AA Change: R327*

SMART Domains

Protein: ENSMUSP00000078233
Gene: ENSMUSG00000051341
AA Change: R327*

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm5	T	C	4: 144,504,332 (GRCm39)	D273G	probably damaging	Het
Acacb	T	C	5: 114,333,703 (GRCm39)	V542A	possibly damaging	Het
Adprhl1	C	T	8: 13,273,069 (GRCm39)	V1230I	probably benign	Het
Agpat1	T	A	17: 34,829,883 (GRCm39)	Y77N	probably damaging	Het
Apc	T	A	18: 34,445,126 (GRCm39)	I674K	probably damaging	Het
Arpc5	T	C	1: 152,647,187 (GRCm39)	S97P	probably damaging	Het
Arrdc5	A	G	17: 56,604,931 (GRCm39)	F119L	probably benign	Het
Asap1	A	G	15: 64,002,105 (GRCm39)	V402A	probably damaging	Het
Aspg	T	C	12: 112,091,255 (GRCm39)	V479A	possibly damaging	Het
B3galnt2	G	A	13: 14,169,070 (GRCm39)	V368M	probably benign	Het
Bcl3	T	C	7: 19,556,536 (GRCm39)	T23A	probably benign	Het
Bpifb5	A	G	2: 154,070,853 (GRCm39)	K215E	possibly damaging	Het
Coa4	T	A	7: 100,188,478 (GRCm39)	C64S	probably damaging	Het
Dcun1d4	T	C	5: 73,648,879 (GRCm39)		probably null	Het
Dnaaf5	T	G	5: 139,151,868 (GRCm39)	C506W	probably damaging	Het
Dock3	A	G	9: 106,900,931 (GRCm39)	Y345H	probably damaging	Het
Dscaml1	A	G	9: 45,621,624 (GRCm39)	N1024S	possibly damaging	Het
Dsp	T	C	13: 38,360,478 (GRCm39)		probably null	Het
Dsp	A	G	13: 38,379,425 (GRCm39)	T2057A	probably benign	Het
Dync1h1	T	G	12: 110,602,887 (GRCm39)	L2176R	probably damaging	Het
Eif5b	A	C	1: 38,090,718 (GRCm39)	D1192A	probably benign	Het
Epn2	A	T	11: 61,437,674 (GRCm39)		probably benign	Het
Exoc1	T	A	5: 76,693,195 (GRCm39)	N360K	probably benign	Het
Fam135b	A	T	15: 71,335,529 (GRCm39)	V555E	probably damaging	Het
Fmn1	A	T	2: 113,271,956 (GRCm39)	Q108L	unknown	Het
Gcc2	A	G	10: 58,092,723 (GRCm39)	T48A	probably benign	Het
Gm6619	T	G	6: 131,467,354 (GRCm39)	I73S	possibly damaging	Het
Gm8267	T	A	14: 44,960,397 (GRCm39)	D116V	probably damaging	Het
Hapln3	T	A	7: 78,767,017 (GRCm39)	T341S	probably benign	Het
Lamb3	C	A	1: 193,014,474 (GRCm39)	D544E	possibly damaging	Het
Lhx5	T	A	5: 120,578,349 (GRCm39)	S390T	probably benign	Het
Lrrc63	A	G	14: 75,363,697 (GRCm39)	S145P	possibly damaging	Het
Lrriq1	T	C	10: 103,050,380 (GRCm39)	M791V	probably benign	Het
Lyg2	A	G	1: 37,950,218 (GRCm39)	Y37H	possibly damaging	Het
Lyz3	G	A	10: 117,074,602 (GRCm39)		probably benign	Het
Nrbp1	T	A	5: 31,402,300 (GRCm39)	M172K	probably damaging	Het
Or2l13b	T	G	16: 19,349,650 (GRCm39)	S7R	probably benign	Het
Or4c126	A	G	2: 89,824,183 (GRCm39)	I149V	probably benign	Het
Or8u9	T	A	2: 86,001,354 (GRCm39)	D269V	probably damaging	Het
Pcyt2	A	T	11: 120,502,209 (GRCm39)	Y308N	possibly damaging	Het
Peg10	C	CTCA	6: 4,756,453 (GRCm39)		probably benign	Het
Phf21b	A	G	15: 84,689,104 (GRCm39)	S141P	probably damaging	Het
Pigh	G	A	12: 79,136,324 (GRCm39)	P24S	probably benign	Het
Plekhg3	A	G	12: 76,623,259 (GRCm39)	D834G	probably damaging	Het
Plekhg5	T	A	4: 152,198,392 (GRCm39)	V860D	probably benign	Het
Pon1	A	G	6: 5,177,399 (GRCm39)	I170T	probably damaging	Het
Ptpn9	T	A	9: 56,934,717 (GRCm39)	Y160*	probably null	Het
Ptprj	T	C	2: 90,280,163 (GRCm39)	K1045R	possibly damaging	Het
Rilpl2	T	A	5: 124,601,851 (GRCm39)	H196L	probably benign	Het
Rnf112	C	T	11: 61,341,854 (GRCm39)	V317I	possibly damaging	Het
Rundc3a	G	T	11: 102,290,872 (GRCm39)		probably null	Het
Sgsm1	T	C	5: 113,422,187 (GRCm39)	Y489C	probably damaging	Het
Sis	G	A	3: 72,816,374 (GRCm39)	H1531Y	possibly damaging	Het
Slc26a9	A	G	1: 131,690,556 (GRCm39)	Y520C	probably damaging	Het
Smc5	A	G	19: 23,220,064 (GRCm39)	V467A	probably damaging	Het
Spata20	G	A	11: 94,374,867 (GRCm39)	A245V	probably benign	Het
Steap3	A	C	1: 120,169,248 (GRCm39)	F350V	probably benign	Het
Sucnr1	A	G	3: 59,994,117 (GRCm39)	Q215R	probably benign	Het
Supv3l1	G	A	10: 62,266,394 (GRCm39)	A594V	probably damaging	Het
Swt1	A	T	1: 151,286,815 (GRCm39)	F226I	probably benign	Het
Taar7f	A	G	10: 23,925,885 (GRCm39)	T160A	possibly damaging	Het
Tada2a	A	T	11: 84,017,812 (GRCm39)		probably null	Het
Taok3	C	A	5: 117,388,974 (GRCm39)	Q460K	probably damaging	Het
Tasor	T	A	14: 27,193,602 (GRCm39)	V934E	probably damaging	Het
Twf2	A	G	9: 106,091,597 (GRCm39)	E268G	probably damaging	Het
Upf2	A	T	2: 6,023,743 (GRCm39)	I698F	unknown	Het
Vmn2r35	T	A	7: 7,820,013 (GRCm39)	N86Y	probably damaging	Het
Vmn2r84	T	C	10: 130,227,982 (GRCm39)	T85A	possibly damaging	Het
Vps13d	A	G	4: 144,832,426 (GRCm39)	S2833P		Het
Xrn1	T	C	9: 95,933,682 (GRCm39)	S1584P	probably benign	Het
Zfp354b	T	C	11: 50,813,224 (GRCm39)	Y567C	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
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
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

PCR Primer
(F):5'- ATGTGGGCACTGCAGGAAAT -3'
(R):5'- ACATTCTGTACATCTATACGGTCTCTT -3'

Sequencing Primer
(F):5'- TGGGCACTGCAGGAAATACTTC -3'
(R):5'- ATACGGTCTCTTTCCAGTATGAAC -3'

Posted On

2019-10-07