Mutagenetix > Incidental Mutation

Incidental Mutation 'R8817:Zfp282'

672795

Institutional Source

Beutler Lab

Gene Symbol

Zfp282

Ensembl Gene

ENSMUSG00000025821

Gene Name

zinc finger protein 282

Synonyms

HUB1

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R8817 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

47877204-47908485 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 47904826 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 482 (N482K)

Ref Sequence

ENSEMBL: ENSMUSP00000053643 (fasta)

Gene Model

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

AlphaFold

E9PVC2

Predicted Effect

probably benign
Transcript: ENSMUST00000061890
AA Change: N482K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000053643
Gene: ENSMUSG00000025821
AA Change: N482K

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.8%
20x: 99.4%

Validation Efficiency

99% (77/78)

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110051M20Rik	A	G	2: 91,276,998	Y320H	probably benign	Het
Aass	A	T	6: 23,097,196	Y41*	probably null	Het
AI429214	G	A	8: 36,994,114	V139I	probably benign	Het
Cacna1a	G	A	8: 84,638,797	A2190T	probably benign	Het
Cutc	T	C	19: 43,755,674	V38A	probably benign	Het
Cxcl10	G	T	5: 92,347,371	P98H	probably damaging	Het
Dopey1	T	C	9: 86,513,950	S822P	possibly damaging	Het
Dusp19	T	C	2: 80,624,287	L117P	probably damaging	Het
Emc3	A	G	6: 113,515,907	F261S	probably damaging	Het
Ephx2	T	C	14: 66,107,276	T200A	probably benign	Het
Eri1	A	C	8: 35,478,638	D164E	probably damaging	Het
Ethe1	T	C	7: 24,606,302	I158T	probably damaging	Het
Fancm	C	T	12: 65,120,557	R1547C	probably damaging	Het
Fer1l4	T	A	2: 156,048,223	T261S	probably damaging	Het
Fyb2	A	G	4: 104,945,455	R185G	probably benign	Het
Gabrp	A	T	11: 33,554,464	S284T	possibly damaging	Het
Gga2	G	A	7: 121,991,622	R488*	probably null	Het
Gm14085	A	T	2: 122,518,507	T305S	possibly damaging	Het
Gm436	A	G	4: 144,673,791	V139A	probably benign	Het
Gm9758	A	G	5: 14,912,216	L126S	probably damaging	Het
Gse1	T	C	8: 120,567,803	F290L	probably damaging	Het
Hdgfl1	A	G	13: 26,770,085	S2P	probably damaging	Het
Hmmr	G	A	11: 40,721,672	S206F	probably damaging	Het
Huwe1	A	G	X: 151,886,997	K1482R	probably benign	Het
Lama2	A	T	10: 27,187,873	W1307R	probably damaging	Het
Map3k6	A	G	4: 133,246,760	K517E	probably benign	Het
Mbl1	T	A	14: 41,153,598	L3Q	unknown	Het
Mepe	G	T	5: 104,337,285	R97L	probably benign	Het
Minpp1	T	A	19: 32,486,347	M136K	possibly damaging	Het
Mrgprb1	T	A	7: 48,447,322	I281F	probably benign	Het
Naip5	T	C	13: 100,212,699	I1374V	probably benign	Het
Olfr1259	A	G	2: 89,943,446	L223S	probably damaging	Het
Olfr603	A	T	7: 103,383,618	I128N	probably damaging	Het
Olfr761	A	G	17: 37,952,382	I214T	probably damaging	Het
Olfr954	C	T	9: 39,462,091	S217F	probably damaging	Het
Olfr970	G	T	9: 39,819,643	M1I	probably null	Het
Pamr1	T	G	2: 102,634,421	V305G	probably benign	Het
Pcbp3	T	C	10: 76,789,836	T125A	probably benign	Het
Peli2	G	A	14: 48,252,673	E201K	possibly damaging	Het
Pitpnm3	T	C	11: 72,051,068	E971G	possibly damaging	Het
Pkdrej	A	G	15: 85,818,573	V1054A	probably damaging	Het
Plcb1	G	A	2: 135,333,509		probably benign	Het
Prpf40a	T	C	2: 53,152,959	K480E	probably damaging	Het
Psd3	A	G	8: 67,960,483	I465T	possibly damaging	Het
Pskh1	C	T	8: 105,929,720	R343W	probably damaging	Het
Ptprz1	A	T	6: 23,007,372	T1645S	probably damaging	Het
Rasal1	T	C	5: 120,670,351	F483L	probably damaging	Het
Rbm28	T	C	6: 29,155,024		probably benign	Het
Recql	G	A	6: 142,358,886		probably benign	Het
Rnf40	T	C	7: 127,597,160	V760A	probably damaging	Het
Rp1l1	A	T	14: 64,030,636	R1224W	probably benign	Het
Rpgrip1	T	C	14: 52,140,599	V468A	probably benign	Het
Ryr2	T	A	13: 11,735,623	I1921F	possibly damaging	Het
Sirpa	G	A	2: 129,593,638	G9D	unknown	Het
Slc40a1	A	C	1: 45,909,539	V527G	probably damaging	Het
Smarca4	T	A	9: 21,636,201	M260K	probably benign	Het
Smarca5	A	T	8: 80,733,750	M119K	probably benign	Het
Smg1	A	G	7: 118,159,664	V2206A	unknown	Het
Sp4	A	T	12: 118,261,889	V580D	possibly damaging	Het
Spata31d1c	G	A	13: 65,034,562	C75Y	probably damaging	Het
Sppl2b	TGTCACAGGT	TGT	10: 80,866,069		probably null	Het
Srcap	T	C	7: 127,553,223	S2220P	probably benign	Het
Stra6	G	T	9: 58,151,982	V543F	possibly damaging	Het
Tenm4	T	A	7: 96,874,128	F1626I	probably benign	Het
Tjp1	T	C	7: 65,303,062	N1508S	probably benign	Het
Trrap	T	A	5: 144,845,538	L3298Q	probably damaging	Het
Tsn	A	G	1: 118,304,740	L135P	probably damaging	Het
Ttl	A	T	2: 129,068,858	H54L	probably damaging	Het
Ttn	T	A	2: 76,829,907	T12110S	unknown	Het
Uba6	T	C	5: 86,148,913	I306V	probably null	Het
Ubap2	A	G	4: 41,223,425	S204P	possibly damaging	Het
Unc13d	AATGCCTCCCATGCC	AATGCCTCCCATGCCTCCCATGCC	11: 116,068,172		probably benign	Het
Ush2a	A	T	1: 188,263,034	M1L	probably benign	Het
Vmn1r159	C	A	7: 22,843,134	V158F	probably benign	Het
Wif1	A	G	10: 121,096,716	H333R	possibly 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
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
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'- AACCTCATCAGCAGAGCCTG -3'
(R):5'- GGCAGTTGAAGCTCTTCTCG -3'

Sequencing Primer
(F):5'- AGAGCCTGCCCGCCTTG -3'
(R):5'- ACTCTGCGCACTCGTATGG -3'

Posted On

2021-04-30