Mutagenetix > Incidental Mutation

Incidental Mutation 'R0118:Zfp282'

20920

Institutional Source

Beutler Lab

Gene Symbol

Zfp282

Ensembl Gene

ENSMUSG00000025821

Gene Name

zinc finger protein 282

Synonyms

HUB1

MMRRC Submission

038404-MU

Accession Numbers

Essential gene?

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

Stock #

R0118 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

47877204-47908485 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 47892932 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 304 (R304G)

Ref Sequence

ENSEMBL: ENSMUSP00000053643 (fasta)

Gene Model

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

AlphaFold

E9PVC2

Predicted Effect

probably benign
Transcript: ENSMUST00000061890
AA Change: R304G

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000053643
Gene: ENSMUSG00000025821
AA Change: R304G

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: 98.8%
3x: 97.2%
10x: 89.3%
20x: 67.4%

Validation Efficiency

98% (50/51)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts15	T	C	9: 30,911,744	R343G	probably damaging	Het
Asxl2	T	G	12: 3,496,923	V569G	probably damaging	Het
Azin2	A	C	4: 128,949,637	H85Q	probably damaging	Het
Cacna1a	C	T	8: 84,536,083	R324C	probably damaging	Het
Ccdc151	A	T	9: 21,995,057	N224K	probably benign	Het
Ccr3	C	A	9: 124,029,610	Y327*	probably null	Het
Cers2	T	C	3: 95,320,226	F55S	probably benign	Het
Cic	C	T	7: 25,286,034	S301L	probably damaging	Het
Cntnap2	T	C	6: 45,060,392		probably null	Het
Cpn2	T	C	16: 30,260,368	R172G	probably benign	Het
Ctdnep1	T	C	11: 69,988,731		probably null	Het
Dennd3	T	A	15: 73,565,076	Y1051N	probably damaging	Het
Dmap1	T	G	4: 117,676,483	Y196S	probably damaging	Het
Entpd7	G	A	19: 43,704,312	W102*	probably null	Het
Frem2	A	T	3: 53,535,243	C2624*	probably null	Het
Gdpd3	A	G	7: 126,770,993	Y238C	probably damaging	Het
Gjb3	A	G	4: 127,326,658	V27A	probably damaging	Het
Kat6b	T	C	14: 21,669,974	F1465L	probably damaging	Het
Klra17	A	T	6: 129,831,589	M227K	probably benign	Het
Map6	A	G	7: 99,317,617	D348G	possibly damaging	Het
Mapkbp1	T	C	2: 120,025,215	S1472P	probably benign	Het
Megf6	C	A	4: 154,254,641	P545Q	probably damaging	Het
Mertk	C	T	2: 128,759,166	R357W	probably damaging	Het
Mesd	T	A	7: 83,895,627	I104N	probably damaging	Het
Mrm3	T	A	11: 76,249,955	V263E	possibly damaging	Het
Ndst4	T	A	3: 125,611,561	Y488*	probably null	Het
Nfat5	C	T	8: 107,339,075	R156W	probably damaging	Het
Nfs1	T	C	2: 156,134,524	H150R	probably damaging	Het
Olfr1500	A	G	19: 13,827,565	F277S	possibly damaging	Het
Olfr27	T	A	9: 39,144,103	M1K	probably null	Het
Olfr353	A	G	2: 36,890,023	M275T	probably benign	Het
Olfr923	T	C	9: 38,827,858	S50P	possibly damaging	Het
Pcdh8	T	C	14: 79,767,408	Y1059C	probably damaging	Het
Pik3r5	T	A	11: 68,490,480	L164Q	probably damaging	Het
Polr3g	T	C	13: 81,676,121		probably benign	Het
Ppm1e	T	A	11: 87,231,738	K464N	probably benign	Het
Rims1	T	C	1: 22,346,407	T1037A	probably damaging	Het
Rpgrip1l	A	T	8: 91,270,122	I108N	probably damaging	Het
Sfi1	CCTCTC	CCTCTCTC	11: 3,177,419		probably benign	Het
Spem1	T	C	11: 69,821,545	K98E	possibly damaging	Het
St7l	T	C	3: 104,889,303	V237A	probably damaging	Het
Tbc1d16	T	C	11: 119,157,816	H337R	probably damaging	Het
Tbc1d32	T	A	10: 56,017,605	I1291F	probably benign	Het
Tnfaip6	G	T	2: 52,043,815	E61*	probably null	Het
Trib2	A	T	12: 15,793,928	W102R	probably damaging	Het
Uimc1	G	T	13: 55,085,644	N66K	probably damaging	Het
Vmn1r63	T	A	7: 5,802,839	T265S	probably benign	Het
Vps35	G	A	8: 85,294,953	T3I	probably benign	Het
Yeats2	T	A	16: 20,156,942	L63*	probably null	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
R0415:Zfp282	UTSW	6	47905053	missense	possibly damaging	0.88
R0415:Zfp282	UTSW	6	47897881	missense	probably damaging	0.99
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
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'- TGGTCACTTCTCTGCTACTGGGAC -3'
(R):5'- TGCTAAACACCCCGTTTGTGCC -3'

Sequencing Primer
(F):5'- ATTGTCCCCTGGAAATGCTGAC -3'
(R):5'- TGGAAACCTGTCTCAGTCCAG -3'

Posted On

2013-04-11