Mutagenetix > Incidental Mutation

Incidental Mutation 'R5261:Zfp282'

401432

Institutional Source

Beutler Lab

Gene Symbol

Zfp282

Ensembl Gene

ENSMUSG00000025821

Gene Name

zinc finger protein 282

Synonyms

HUB1

MMRRC Submission

042830-MU

Accession Numbers

Essential gene?

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

Stock #

R5261 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

47877204-47908485 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 47897890 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 343 (D343G)

Ref Sequence

ENSEMBL: ENSMUSP00000053643 (fasta)

Gene Model

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

AlphaFold

E9PVC2

Predicted Effect

probably damaging
Transcript: ENSMUST00000061890
AA Change: D343G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000053643
Gene: ENSMUSG00000025821
AA Change: D343G

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

Meta Mutation Damage Score

0.1852

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.5%
20x: 93.1%

Validation Efficiency

96% (64/67)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430573F11Rik	T	C	8: 36,511,924	I227T	probably benign	Het
6820408C15Rik	C	G	2: 152,440,857	P211A	probably damaging	Het
Ambra1	G	A	2: 91,885,606	V761M	probably damaging	Het
Amfr	T	A	8: 93,976,170		probably null	Het
Asphd1	C	A	7: 126,946,115	A357S	probably benign	Het
Brd3	C	A	2: 27,463,919	Q60H	probably damaging	Het
Cd96	T	A	16: 46,069,653	M336L	probably benign	Het
Cep152	T	A	2: 125,564,205	H1469L	probably benign	Het
Coro1a	G	T	7: 126,700,644		probably null	Het
D630045J12Rik	A	T	6: 38,194,620	L871Q	probably benign	Het
Depdc5	C	T	5: 32,938,291	P824L	probably damaging	Het
Enpep	T	G	3: 129,305,426	D467A	probably damaging	Het
Extl2	G	A	3: 116,027,364	A273T	probably benign	Het
Foxi3	T	A	6: 70,960,516	F218Y	probably damaging	Het
Golga2	A	G	2: 32,304,154	M521V	probably benign	Het
Gpr142	T	A	11: 114,804,342	N44K	probably damaging	Het
Gtf2ird2	A	G	5: 134,216,219	I440V	probably benign	Het
Gucy1b2	T	A	14: 62,404,579	K698I	probably damaging	Het
Hspa1b	T	C	17: 34,959,007	M1V	probably null	Het
Ints9	T	A	14: 65,008,072	Y260N	probably benign	Het
Khdc3	T	G	9: 73,103,486	V182G	possibly damaging	Het
Ky	A	G	9: 102,537,599		probably null	Het
Map2k1	T	A	9: 64,191,561	I263F	probably damaging	Het
Olfr328	T	C	11: 58,552,051	S63G	probably benign	Het
Olfr46	A	C	7: 140,610,663	I166L	probably benign	Het
Olfr995	A	G	2: 85,438,897	V87A	probably benign	Het
Otogl	T	A	10: 107,777,592	H2004L	probably benign	Het
Palmd	T	C	3: 116,923,360	H496R	probably benign	Het
Papolb	C	G	5: 142,529,654	R78P	possibly damaging	Het
Pcdh10	G	A	3: 45,381,812	G854R	probably damaging	Het
Pdcd11	A	G	19: 47,113,537	I1054V	probably benign	Het
Pik3ap1	A	T	19: 41,376,106	L58Q	probably damaging	Het
Ppp2ca	A	G	11: 52,099,110	K21R	probably benign	Het
Prmt5	A	C	14: 54,507,916	I598S	probably damaging	Het
Pycr1	T	A	11: 120,641,224	I239F	probably damaging	Het
R3hdm2	C	T	10: 127,498,416	R896C	probably damaging	Het
Rev3l	C	T	10: 39,846,729	P699S	probably damaging	Het
Samd1	CGAGGAGGAGGAGGAGGAGGA	CGAGGAGGAGGAGGAGGA	8: 83,998,996		probably benign	Het
Sel1l	A	T	12: 91,824,884	M351K	possibly damaging	Het
Sesn2	A	G	4: 132,499,306	L159P	probably damaging	Het
Slc35f4	T	A	14: 49,303,489		probably benign	Het
Slc3a1	C	A	17: 85,051,975	N409K	probably damaging	Het
Slc45a2	C	T	15: 11,027,785	T480I	probably damaging	Het
Slco1c1	T	C	6: 141,546,776	F246S	probably damaging	Het
Socs2	T	G	10: 95,392,819	I190L	unknown	Het
Srsf1	T	A	11: 88,047,858	I7N	possibly damaging	Het
Stox1	T	A	10: 62,667,841	H145L	probably damaging	Het
Trap1	A	T	16: 4,056,422	I243N	probably damaging	Het
Trav7-3	T	C	14: 53,443,750	I83T	probably benign	Het
Tuft1	A	T	3: 94,639,405	I42K	possibly damaging	Het
Umps	A	G	16: 33,966,974	V3A	probably benign	Het
Vim	A	C	2: 13,574,832	E134A	probably null	Het
Vmn1r28	C	A	6: 58,265,539	H122Q	probably benign	Het
Vps51	T	G	19: 6,071,033	E283D	probably benign	Het
Vsig10l	T	A	7: 43,470,850	V760D	probably damaging	Het
Xrn1	A	G	9: 96,045,543	D1460G	probably benign	Het
Zfp35	A	G	18: 24,003,721	H374R	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
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
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'- CCTTCAGCCACATTCATTATGG -3'
(R):5'- CTTGCTCTTTGACACACAAATACAC -3'

Sequencing Primer
(F):5'- GCCACATTCATTATGGCCAGAATAG -3'
(R):5'- AGAGGTCCTGAGTTCAATTCCCAG -3'

Posted On

2016-07-06