Mutagenetix > Incidental Mutation

Incidental Mutation 'R0020:Zfp282'

64736

Institutional Source

Beutler Lab

Gene Symbol

Zfp282

Ensembl Gene

ENSMUSG00000025821

Gene Name

zinc finger protein 282

Synonyms

HUB1

MMRRC Submission

038315-MU

Accession Numbers

Essential gene?

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

Stock #

R0020 (G1)

Quality Score

103

Status

Validated

Chromosome

Chromosomal Location

47877204-47908485 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 47880009 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Glycine at position 59 (W59G)

Ref Sequence

ENSEMBL: ENSMUSP00000053643 (fasta)

Gene Model

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

AlphaFold

E9PVC2

Predicted Effect

probably damaging
Transcript: ENSMUST00000061890
AA Change: W59G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000053643
Gene: ENSMUSG00000025821
AA Change: W59G

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

0.0949

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.9%
20x: 96.4%

Validation Efficiency

99% (67/68)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930021J03Rik	A	T	19: 29,716,197	D2032E	probably damaging	Het
Ado	T	C	10: 67,548,097	D226G	probably benign	Het
Agfg2	C	T	5: 137,653,802	V432M	probably benign	Het
Atf2	T	C	2: 73,846,284	D122G	possibly damaging	Het
AW549877	T	C	15: 3,991,868		probably benign	Het
C330027C09Rik	A	T	16: 49,001,612	H201L	probably damaging	Het
Cd2bp2	G	A	7: 127,193,824	T342M	probably damaging	Het
Col6a3	T	A	1: 90,811,550	I319F	probably damaging	Het
Cst11	T	A	2: 148,771,333	Y24F	probably damaging	Het
Cstb	T	A	10: 78,427,336	V65E	probably benign	Het
Cyp2j11	G	A	4: 96,307,404	H352Y	probably benign	Het
D130043K22Rik	T	A	13: 24,854,492		probably benign	Het
Dbh	A	G	2: 27,170,572		probably benign	Het
Dhdh	T	C	7: 45,488,104	K53R	probably benign	Het
Drc3	A	G	11: 60,370,545	Y174C	probably damaging	Het
Ezr	G	T	17: 6,742,727	Q308K	probably damaging	Het
F3	A	T	3: 121,731,616	N169Y	probably damaging	Het
Fbn2	G	T	18: 58,105,164	T587K	probably damaging	Het
Fhl5	A	T	4: 25,200,054	V260E	probably benign	Het
Glyr1	A	G	16: 5,037,049	I55T	probably damaging	Het
Gm12695	G	C	4: 96,769,735	P66A	probably damaging	Het
Gm6614	A	T	6: 141,972,350	V600E	possibly damaging	Het
Gon4l	G	T	3: 88,858,937	V428L	probably damaging	Het
Grasp	T	C	15: 101,230,552	V157A	probably damaging	Het
Ighv6-5	T	C	12: 114,416,621	D92G	probably null	Het
Inhba	A	C	13: 16,026,364	K170N	possibly damaging	Het
Kng2	A	G	16: 22,997,296	V317A	probably benign	Het
Larp1	T	A	11: 58,050,023	D658E	probably damaging	Het
Map3k14	T	C	11: 103,227,674	E562G	probably damaging	Het
Megf10	G	T	18: 57,287,893	V868F	possibly damaging	Het
Nap1l1	A	C	10: 111,491,023	E148D	probably benign	Het
Nlrp4a	A	T	7: 26,450,372	H468L	probably damaging	Het
Nphs1	G	T	7: 30,463,208	V357L	probably benign	Het
Olfr432	T	A	1: 174,050,847	V158E	probably damaging	Het
Pclo	A	G	5: 14,669,673	T1275A	unknown	Het
Pde4d	T	A	13: 109,954,570	C35S	possibly damaging	Het
Pkd1l1	A	G	11: 8,875,765		probably benign	Het
Pkd2	A	G	5: 104,503,516	E910G	probably damaging	Het
Pot1b	T	A	17: 55,653,429	M634L	probably benign	Het
Ppp2r5c	C	T	12: 110,574,823	Q469*	probably null	Het
Ppp6r2	T	A	15: 89,259,139	M163K	probably damaging	Het
Prss43	C	A	9: 110,828,512		probably benign	Het
Rb1cc1	C	A	1: 6,264,548	N1444K	possibly damaging	Het
Scube2	A	G	7: 109,830,888		probably benign	Het
Slamf9	T	C	1: 172,475,515	S7P	possibly damaging	Het
Slc35b2	T	A	17: 45,566,856	M303K	probably damaging	Het
Slc4a7	T	A	14: 14,796,108	F1116I	probably benign	Het
Smarcad1	T	A	6: 65,084,007		probably benign	Het
Tns3	A	C	11: 8,545,227		probably null	Het
Zfp746	C	A	6: 48,064,707	A362S	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
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
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

2013-08-06