Mutagenetix > Incidental Mutations

Incidental Mutation 'R4478:Zfp282'

331352

Institutional Source

Beutler Lab

Gene Symbol

Zfp282

Ensembl Gene

ENSMUSG00000025821

Gene Name

zinc finger protein 282

Synonyms

HUB1

MMRRC Submission

041735-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R4478 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

47877204-47908485 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 47890696 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 269 (R269*)

Ref Sequence

ENSEMBL: ENSMUSP00000053643 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000061890
AA Change: R269*

SMART Domains

Protein: ENSMUSP00000053643
Gene: ENSMUSG00000025821
AA Change: R269*

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

0.9712

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

Validation Efficiency

94% (46/49)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430531B16Rik	A	T	7: 139,975,860		probably null	Het
Adam3	T	C	8: 24,695,155	D509G	probably benign	Het
Ank1	C	T	8: 23,120,578	T1379I	probably benign	Het
Ap1m2	A	G	9: 21,298,213	V389A	probably benign	Het
Cdh15	A	G	8: 122,864,676	H517R	probably benign	Het
Chd9	T	C	8: 91,034,031		probably benign	Het
Chp2	A	G	7: 122,220,918	D97G	probably benign	Het
Cpne5	T	C	17: 29,209,476	T118A	probably damaging	Het
D130040H23Rik	C	A	8: 69,302,503	H187N	possibly damaging	Het
Dag1	G	C	9: 108,208,730	T404R	probably damaging	Het
Dnah3	T	G	7: 120,071,863	H599P	probably benign	Het
Eif4g1	G	T	16: 20,678,843		probably benign	Het
Fabp9	T	C	3: 10,197,106	Y30C	probably damaging	Het
Fnbp1	G	A	2: 31,105,254	A56V	probably damaging	Het
Gm20498	T	C	12: 81,489,216		probably benign	Het
Hid1	G	A	11: 115,361,655	A67V	probably damaging	Het
Il6ra	T	A	3: 89,890,290	Y90F	probably damaging	Het
Kcnk18	T	C	19: 59,235,244	S274P	probably damaging	Het
Kndc1	A	T	7: 139,920,684	D655V	probably damaging	Het
Lrrk2	G	A	15: 91,723,188	A585T	probably damaging	Het
Mrc2	G	A	11: 105,348,431		probably null	Het
Myo9b	A	T	8: 71,291,081	K262M	probably damaging	Het
Obscn	T	C	11: 59,131,646	R758G	possibly damaging	Het
Olfr1100	G	T	2: 86,978,218	R193S	probably benign	Het
Olfr433	C	T	1: 174,042,616	T222I	probably benign	Het
Olfr779	C	T	10: 129,311,776	L90F	possibly damaging	Het
Plxna4	A	T	6: 32,196,133	C1288S	possibly damaging	Het
Ptpn22	T	C	3: 103,902,064		probably benign	Het
Rab11fip3	C	T	17: 26,016,083	E619K	probably damaging	Het
Robo2	C	A	16: 74,015,873	R311L	probably damaging	Het
Sdad1	A	G	5: 92,297,160	M315T	probably damaging	Het
Slc39a12	T	A	2: 14,420,179	L407*	probably null	Het
Snap29	T	C	16: 17,428,155	V213A	probably benign	Het
Stard7	T	A	2: 127,284,259	L77Q	probably damaging	Het
Stat5b	A	G	11: 100,787,284	Y668H	probably benign	Het
Tgfb2	A	G	1: 186,632,499	I266T	probably damaging	Het
Tmem87a	C	T	2: 120,369,343	W440*	probably null	Het
Tnr	T	A	1: 159,884,756		probably null	Het
Ubl3	C	T	5: 148,511,977	S18N	probably benign	Het
Vmn2r68	TCC	TC	7: 85,221,550		probably null	Het
Vmn2r9	T	C	5: 108,846,277	E502G	probably benign	Het
Vps8	A	T	16: 21,545,236		probably benign	Het
Vwa8	T	A	14: 78,868,801	D61E	probably benign	Het
Wdr73	T	C	7: 80,893,221	E213G	probably benign	Het
Zfp1	A	G	8: 111,670,543	R366G	probably damaging	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
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
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'- ATAATGGCTGCCATGCTGTG -3'
(R):5'- GCATGTTCTGTAAGTGACCACAC -3'

Sequencing Primer
(F):5'- ACATTGGTAACTGAGAGCCCTGC -3'
(R):5'- ACAACAGCTGTGGTATAAGTGGTTC -3'

Posted On

2015-07-21