Mutagenetix > Incidental Mutation

Incidental Mutation 'R0946:Zfp282'

82096

Institutional Source

Beutler Lab

Gene Symbol

Zfp282

Ensembl Gene

ENSMUSG00000025821

Gene Name

zinc finger protein 282

Synonyms

HUB1

MMRRC Submission

039085-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

R0946 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

47877204-47908485 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 47880009 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 59 (W59R)

Ref Sequence

ENSEMBL: ENSMUSP00000053643 (fasta)

Gene Model

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

AlphaFold

E9PVC2

Predicted Effect

probably damaging
Transcript: ENSMUST00000061890
AA Change: W59R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000053643
Gene: ENSMUSG00000025821
AA Change: W59R

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

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.5%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123L14Rik	A	T	6: 96,165,696	N122K	possibly damaging	Het
9230112D13Rik	A	G	14: 34,512,142	M64T	unknown	Het
Adamts15	C	T	9: 30,902,197	G891R	probably damaging	Het
Adck5	G	A	15: 76,593,286	V107I	possibly damaging	Het
Aoc3	G	A	11: 101,332,305	V456M	possibly damaging	Het
Apbb1	A	T	7: 105,573,855	L183Q	probably benign	Het
BC049730	A	G	7: 24,713,742	K162R	probably benign	Het
Camsap3	A	G	8: 3,604,442	H693R	probably benign	Het
Ccdc88a	A	G	11: 29,456,509	T414A	probably benign	Het
Cdh17	T	C	4: 11,795,581	V387A	probably benign	Het
Coasy	G	T	11: 101,085,870	V489F	probably damaging	Het
Ercc6	A	T	14: 32,552,621	M574L	probably benign	Het
Esrrb	T	C	12: 86,505,824	L180P	probably damaging	Het
Fam83b	A	T	9: 76,491,397	V808D	probably damaging	Het
Fat3	C	T	9: 15,997,804	V2301I	possibly damaging	Het
Gm813	C	A	16: 58,614,712	R83S	probably damaging	Het
Gm9573	A	C	17: 35,618,213	S1581A	probably benign	Het
Hyal4	T	A	6: 24,755,913	Y43*	probably null	Het
Hydin	C	A	8: 110,531,053	L2372M	probably benign	Het
Lrrc4c	T	C	2: 97,629,464	V145A	probably benign	Het
Myh4	A	G	11: 67,251,751	I913V	possibly damaging	Het
Nat10	C	T	2: 103,731,374	G654D	probably damaging	Het
Nbn	A	T	4: 15,970,719		probably null	Het
Oas3	T	C	5: 120,769,063	Y503C	unknown	Het
Olfr740	C	A	14: 50,453,673	T207K	probably benign	Het
Pappa	G	T	4: 65,314,792		probably null	Het
Pfas	A	G	11: 68,993,295		probably null	Het
Pfas	G	T	11: 68,990,747		probably null	Het
Pign	A	T	1: 105,591,697	M500K	probably benign	Het
Pkhd1	T	C	1: 20,199,381	K3313R	probably benign	Het
Ptk2b	A	G	14: 66,158,598	V807A	probably benign	Het
Ptpdc1	C	T	13: 48,586,810	E382K	probably damaging	Het
Rfpl4b	A	T	10: 38,820,837	I256N	probably benign	Het
Skap1	C	G	11: 96,541,469	S88*	probably null	Het
Slc4a2	T	C	5: 24,435,886	S742P	probably damaging	Het
Supv3l1	T	C	10: 62,429,820	D647G	probably damaging	Het
Tmem184c	A	C	8: 77,604,757	V121G	probably damaging	Het
Tonsl	T	C	15: 76,623,221	I118V	probably benign	Het
Top1	T	A	2: 160,712,668	Y446*	probably null	Het
Trim37	A	G	11: 87,146,955	R172G	probably damaging	Het
Vgll4	C	A	6: 114,890,807		probably null	Het
Vgll4	T	A	6: 114,890,808		probably null	Het
Vmn1r5	T	G	6: 56,986,165	I275S	possibly damaging	Het
Vwde	A	T	6: 13,187,875	H584Q	probably damaging	Het
Zbtb14	C	A	17: 69,388,502	F398L	probably damaging	Het
Zfp329	T	A	7: 12,811,468	N43I	probably benign	Het
Zswim2	T	A	2: 83,923,759	T186S	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
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
R4532: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'- TAGTAACCAGCCTGGCTCTCCTAAG -3'
(R):5'- ACCTTCCTCTCTACAGCCTGAATGG -3'

Sequencing Primer
(F):5'- CTGGCTCTCCTAAGAAGGGAATG -3'
(R):5'- AGCCTGAATGGCAGCCAC -3'

Posted On

2013-11-08