Mutagenetix > Incidental Mutation

Incidental Mutation 'R8304:Zfp282'

639381

Institutional Source

Beutler Lab

Gene Symbol

Zfp282

Ensembl Gene

ENSMUSG00000025821

Gene Name

zinc finger protein 282

Synonyms

HUB1

MMRRC Submission

067791-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R8304 (G1)

Quality Score

123.467

Status

Not validated

Chromosome

Chromosomal Location

47877204-47908485 bp(+) (GRCm38)

Type of Mutation

small deletion (1 aa in frame mutation)

DNA Base Change (assembly)

AGCGGCGGCGGCGGCGGC to AGCGGCGGCGGCGGC at 47904788 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000053643 (fasta)

Gene Model

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

AlphaFold

E9PVC2

Predicted Effect

probably benign
Transcript: ENSMUST00000061890

SMART Domains

Protein: ENSMUSP00000053643
Gene: ENSMUSG00000025821

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: 99.6%
20x: 98.9%

Validation Efficiency

98% (58/59)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	G	11: 110,107,128		probably null	Het
Akap11	T	C	14: 78,513,232	T572A		Het
Amigo2	A	T	15: 97,246,157	L128Q	probably damaging	Het
Ankrd12	A	G	17: 65,984,547	I1297T	possibly damaging	Het
Arhgap32	T	A	9: 32,255,937	C623*	probably null	Het
Armc2	T	C	10: 41,947,939	Y511C	probably damaging	Het
Asb15	C	T	6: 24,559,297	P147L	possibly damaging	Het
Caprin1	G	T	2: 103,769,517	N604K	probably damaging	Het
Ccnl2	T	C	4: 155,813,222	F113L	probably benign	Het
Cltc	C	T	11: 86,725,261	R393H	probably benign	Het
Cul4a	G	A	8: 13,127,727	C289Y	possibly damaging	Het
Cyp4a29	T	A	4: 115,254,456	F477I	probably damaging	Het
Dapk2	C	T	9: 66,231,745	A116V	possibly damaging	Het
Ddx60	T	C	8: 61,998,769	I1231T	possibly damaging	Het
Eif5b	A	G	1: 38,045,693	I874V	probably benign	Het
Eral1	A	T	11: 78,076,002	S196T	probably damaging	Het
Erc2	T	G	14: 27,653,165	D113E	probably damaging	Het
Frmpd2	A	G	14: 33,552,109	I1103V	possibly damaging	Het
Galm	A	G	17: 80,183,337	T308A	probably damaging	Het
Helz2	A	T	2: 181,230,157	N2650K	probably benign	Het
Herc2	A	G	7: 56,159,438	D2562G	probably damaging	Het
Hmmr	G	A	11: 40,721,672	S206F	probably damaging	Het
Hspbap1	T	A	16: 35,787,325	L67*	probably null	Het
Irx3	T	A	8: 91,800,206	D290V	probably damaging	Het
Kcns1	A	T	2: 164,168,102	Y246N	probably damaging	Het
Kidins220	A	G	12: 25,057,128	T1557A	probably benign	Het
Lrriq1	T	C	10: 103,234,068	N29S	possibly damaging	Het
Mmp24	T	C	2: 155,799,839	F196L	possibly damaging	Het
Mroh2b	T	C	15: 4,925,637	V704A	probably damaging	Het
Mst1	A	G	9: 108,081,604	M112V	probably benign	Het
Myh8	C	A	11: 67,304,336	H1659N	possibly damaging	Het
Nlgn1	C	T	3: 26,133,385	C117Y	probably damaging	Het
Olfr110	A	T	17: 37,499,370	T240S	probably damaging	Het
Olfr456	C	T	6: 42,486,738	V152I	probably benign	Het
Olfr561	A	G	7: 102,774,710	Y62C	possibly damaging	Het
Olfr983	A	T	9: 40,092,354	I204N	probably damaging	Het
Opa1	C	T	16: 29,597,671	T237M	possibly damaging	Het
P3h1	C	T	4: 119,247,205	T641M	probably damaging	Het
Pak7	T	C	2: 136,098,283	H537R	probably benign	Het
Ppp1r12b	A	T	1: 134,896,363	L174Q	possibly damaging	Het
Prkg1	A	G	19: 30,724,184	V326A	possibly damaging	Het
Psmb3	T	A	11: 97,711,169	C122S	probably benign	Het
Sh3bgrl3	C	A	4: 134,128,001	A45S	probably benign	Het
Slc25a47	T	C	12: 108,855,942	V219A	possibly damaging	Het
Slfn9	A	C	11: 82,982,779	S433A	probably benign	Het
Spata13	A	T	14: 60,756,508	R1136S	possibly damaging	Het
Stab1	C	A	14: 31,148,954	A1313S	probably benign	Het
Stim1	G	A	7: 102,435,481	A547T	possibly damaging	Het
Taf5l	A	T	8: 124,003,512	I146N	probably benign	Het
Tbc1d12	A	T	19: 38,837,380	E225V	possibly damaging	Het
Tesc	T	C	5: 118,056,430	Y135H	probably benign	Het
Tfg	T	C	16: 56,701,218	E145G	possibly damaging	Het
Tg	T	A	15: 66,693,260	C1150*	probably null	Het
Tmtc1	T	C	6: 148,271,385	N616S	probably damaging	Het
Trpm7	A	T	2: 126,797,877	W1600R	probably damaging	Het
Ttc17	A	T	2: 94,369,181		probably benign	Het
Zfand1	A	T	3: 10,348,555	L24*	probably null	Het
Zfp770	A	C	2: 114,197,410	F59L	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
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
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'- TGCTTGTAAAGAACCCACCC -3'
(R):5'- ATGATGAGGCTCTTTCGCACG -3'

Sequencing Primer
(F):5'- ACCCCCATCTTCTGCGCAG -3'
(R):5'- ATTCCAGGCAAGAGTAGG -3'

Posted On

2020-07-28