Mutagenetix > Incidental Mutation

Incidental Mutation 'R4532:Zfp282'

333144

Institutional Source

Beutler Lab

Gene Symbol

Zfp282

Ensembl Gene

ENSMUSG00000025821

Gene Name

zinc finger protein 282

Synonyms

HUB1

MMRRC Submission

041772-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R4532 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

47877204-47908485 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 47890633 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 248 (P248S)

Ref Sequence

ENSEMBL: ENSMUSP00000053643 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061890]

AlphaFold

E9PVC2

Predicted Effect

probably benign
Transcript: ENSMUST00000061890
AA Change: P248S

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

SMART Domains

Protein: ENSMUSP00000053643
Gene: ENSMUSG00000025821
AA Change: P248S

Domain	Start	End	E-Value	Type
low complexity region	11	20	N/A	INTRINSIC
low complexity region	66	75	N/A	INTRINSIC
Pfam:DUF3669	98	168	1.8e-12	PFAM
KRAB	198	260	1.04e-21	SMART
internal_repeat_1	317	372	1.1e-13	PROSPERO
low complexity region	387	399	N/A	INTRINSIC
low complexity region	403	420	N/A	INTRINSIC
low complexity region	457	499	N/A	INTRINSIC
ZnF_C2H2	514	536	8.94e-3	SMART
ZnF_C2H2	542	564	4.72e-2	SMART
ZnF_C2H2	570	592	1.04e-3	SMART
ZnF_C2H2	598	620	4.24e-4	SMART
ZnF_C2H2	626	648	1.06e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125957

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.3%

Validation Efficiency

100% (54/54)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap9	T	A	5: 4,043,948	F2157I	probably damaging	Het
Ap3b1	A	G	13: 94,565,735	K1099E	unknown	Het
Arhgap42	T	C	9: 9,011,432	D451G	probably damaging	Het
Cd19	C	T	7: 126,412,109	C301Y	probably damaging	Het
Cdh23	T	C	10: 60,534,423	T198A	probably benign	Het
Cdt1	T	C	8: 122,571,756	S407P	probably benign	Het
Cyp26c1	A	G	19: 37,685,779	T34A	probably damaging	Het
Dbh	C	A	2: 27,177,331	H409Q	possibly damaging	Het
Doxl2	A	G	6: 48,978,167	E647G	possibly damaging	Het
Eif5	T	A	12: 111,539,884	C52*	probably null	Het
Fam122c	G	A	X: 53,293,499	R94H	possibly damaging	Het
Fhod3	A	G	18: 25,110,221	Y1212C	probably damaging	Het
Ggh	T	A	4: 20,046,225	F44L	probably benign	Het
Gm12185	T	C	11: 48,907,920	Y582C	probably damaging	Het
Gm12185	T	C	11: 48,908,094	N524S	possibly damaging	Het
Gm21095	A	G	Y: 84,120,684	N149S	probably damaging	Het
Gys2	T	A	6: 142,455,141	H311L	probably damaging	Het
Hcn4	C	T	9: 58,857,798	R558C	unknown	Het
Heatr6	T	C	11: 83,769,672	L546P	probably damaging	Het
Lin54	G	A	5: 100,446,560	T582I	possibly damaging	Het
Lpin1	C	T	12: 16,553,962	G623S	probably benign	Het
Lrfn2	A	G	17: 49,070,536	D215G	probably damaging	Het
Lrrc3c	C	A	11: 98,599,033	S72*	probably null	Het
Me3	G	A	7: 89,632,900		probably benign	Het
Msln	A	G	17: 25,750,724	I344T	probably damaging	Het
Olfr1040	A	T	2: 86,145,930	L268Q	possibly damaging	Het
Olfr481	T	C	7: 108,081,549	Y252H	probably benign	Het
Oma1	G	A	4: 103,319,374	V112I	probably benign	Het
Orc4	G	A	2: 48,937,489	P31S	probably benign	Het
Pdgfra	A	G	5: 75,181,083	N659S	probably damaging	Het
Rmnd5a	A	T	6: 71,399,125		probably null	Het
Slc12a8	C	A	16: 33,551,033	R180S	probably damaging	Het
Slc6a15	G	A	10: 103,409,787	V544M	possibly damaging	Het
Slco5a1	T	A	1: 12,879,223	T648S	probably damaging	Het
Snx13	T	C	12: 35,144,220	F921L	probably damaging	Het
Stard6	A	C	18: 70,483,534	D88A	probably damaging	Het
Svep1	G	T	4: 58,068,886	H2967N	possibly damaging	Het
Tcaf2	A	C	6: 42,626,437	Y730D	probably damaging	Het
Tes	G	A	6: 17,097,408	V172M	possibly damaging	Het
Ttc3	T	A	16: 94,466,877		probably benign	Het
Vmn1r23	A	G	6: 57,925,929	I288T	probably benign	Het
Vmn1r38	G	T	6: 66,777,032	H33Q	probably benign	Het
Vmn2r75	G	T	7: 86,148,141	C821*	probably null	Het
Zfp655	T	A	5: 145,244,697	I455N	probably benign	Het

Other mutations in Zfp282

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00732:Zfp282	APN	6	47880390	missense	probably damaging	1.00
IGL00755:Zfp282	APN	6	47880390	missense	probably damaging	1.00
IGL01402:Zfp282	APN	6	47897836	missense	probably damaging	0.99
IGL01404:Zfp282	APN	6	47897836	missense	probably damaging	0.99
IGL01484:Zfp282	APN	6	47890120	missense	possibly damaging	0.76
IGL01560:Zfp282	APN	6	47880277	missense	probably damaging	1.00
IGL02949:Zfp282	APN	6	47897914	missense	probably damaging	1.00
FR4304:Zfp282	UTSW	6	47904797	small insertion	probably benign
FR4589:Zfp282	UTSW	6	47904791	small insertion	probably benign
FR4737:Zfp282	UTSW	6	47904790	small insertion	probably benign
FR4737:Zfp282	UTSW	6	47904799	small insertion	probably benign
FR4976:Zfp282	UTSW	6	47904790	small insertion	probably benign
R0020:Zfp282	UTSW	6	47880009	missense	probably damaging	1.00
R0020:Zfp282	UTSW	6	47880009	missense	probably damaging	1.00
R0118:Zfp282	UTSW	6	47892932	missense	probably benign	0.34
R0415:Zfp282	UTSW	6	47897881	missense	probably damaging	0.99
R0415:Zfp282	UTSW	6	47905053	missense	possibly damaging	0.88
R0607:Zfp282	UTSW	6	47880369	missense	probably damaging	1.00
R0710:Zfp282	UTSW	6	47880384	missense	probably damaging	1.00
R0946:Zfp282	UTSW	6	47880009	missense	probably damaging	1.00
R1054:Zfp282	UTSW	6	47904599	missense	probably benign	0.00
R1401:Zfp282	UTSW	6	47890174	nonsense	probably null
R1572:Zfp282	UTSW	6	47892867	missense	probably damaging	1.00
R2016:Zfp282	UTSW	6	47897787	splice site	probably null
R2971:Zfp282	UTSW	6	47897932	splice site	probably null
R4064:Zfp282	UTSW	6	47880094	missense	probably damaging	0.99
R4478:Zfp282	UTSW	6	47890696	nonsense	probably null
R4530:Zfp282	UTSW	6	47890633	missense	probably benign	0.00
R5068:Zfp282	UTSW	6	47877703	missense	probably benign	0.01
R5261:Zfp282	UTSW	6	47897890	missense	probably damaging	0.99
R5326:Zfp282	UTSW	6	47905327	missense	probably benign
R5551:Zfp282	UTSW	6	47890645	missense	possibly damaging	0.59
R6046:Zfp282	UTSW	6	47880168	missense	probably damaging	1.00
R6408:Zfp282	UTSW	6	47880385	missense	probably damaging	1.00
R7535:Zfp282	UTSW	6	47904944	missense	probably benign	0.03
R8098:Zfp282	UTSW	6	47890718	missense	probably benign	0.00
R8158:Zfp282	UTSW	6	47890692	missense	possibly damaging	0.61
R8304:Zfp282	UTSW	6	47904788	small deletion	probably benign
R8385:Zfp282	UTSW	6	47905089	missense	possibly damaging	0.88
R8543:Zfp282	UTSW	6	47904627	missense	probably benign	0.40
R8817:Zfp282	UTSW	6	47904826	missense	probably benign	0.00
S24628:Zfp282	UTSW	6	47897881	missense	probably damaging	0.99
S24628:Zfp282	UTSW	6	47905053	missense	possibly damaging	0.88
Z1177:Zfp282	UTSW	6	47890637	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTCAGGGTCAACCATGGACTC -3'
(R):5'- AACTCCTTGTGTGTATGCAGG -3'

Sequencing Primer
(F):5'- CTCTCAGAAAGAGGCCTGGGTTTC -3'
(R):5'- TGTATGCAGGGTGCCCAG -3'

Posted On

2015-08-18