Mutagenetix > Incidental Mutation

Incidental Mutation 'R6408:Zfp282'

514532

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 #

R6408 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

47877204-47908485 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 47880385 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 184 (R184Q)

Ref Sequence

ENSEMBL: ENSMUSP00000053643 (fasta)

Gene Model

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

AlphaFold

E9PVC2

Predicted Effect

probably damaging
Transcript: ENSMUST00000061890
AA Change: R184Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000053643
Gene: ENSMUSG00000025821
AA Change: R184Q

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

0.3369

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.2%

Validation Efficiency

94% (45/48)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028K03Rik	T	C	5: 107,543,992	S50P	probably damaging	Het
4930407I10Rik	T	C	15: 82,065,106	V1068A	possibly damaging	Het
Acss1	A	G	2: 150,628,492		probably null	Het
Amer2	T	C	14: 60,380,225	I497T	probably damaging	Het
Azi2	A	T	9: 118,061,482	R51*	probably null	Het
BC005561	A	G	5: 104,518,777	I388M	probably benign	Het
Brdt	A	G	5: 107,385,492	D946G	probably damaging	Het
Bzw2	C	T	12: 36,107,525	V314I	possibly damaging	Het
Capn13	A	T	17: 73,365,959	Y116*	probably null	Het
Clca4b	A	G	3: 144,919,275	I485T	probably benign	Het
Crybg3	T	A	16: 59,495,690	T1130S	possibly damaging	Het
Cubn	C	T	2: 13,294,203	V3220M	probably damaging	Het
Cyp4f16	T	A	17: 32,551,199	L514Q	probably damaging	Het
D7Ertd443e	G	T	7: 134,349,711	Q31K	probably benign	Het
Dcaf15	T	C	8: 84,104,726	E8G	probably benign	Het
Ddx24	A	C	12: 103,425,560		probably benign	Het
Diaph3	T	C	14: 86,828,994	M988V	possibly damaging	Het
Dlx4	A	G	11: 95,145,252	V77A	probably benign	Het
Dnah3	T	C	7: 119,922,968		probably null	Het
Drc1	A	G	5: 30,356,288	E396G	probably benign	Het
Gab1	C	A	8: 80,788,597	R364L	possibly damaging	Het
Gbp2b	T	C	3: 142,618,138	L568S	probably benign	Het
Gjb5	A	T	4: 127,356,147	F68Y	probably benign	Het
Gm17359	A	G	3: 79,449,399	R170G	probably benign	Het
Gm9008	A	G	6: 76,496,458	C392R	probably damaging	Het
Hs6st3	C	A	14: 119,138,634	P74T	probably benign	Het
Kif26b	T	C	1: 178,917,568	L1743P	probably damaging	Het
Lnx1	A	T	5: 74,685,646	C48S	probably damaging	Het
Lrfn2	A	G	17: 49,070,626	H245R	probably damaging	Het
Lrrc27	A	G	7: 139,218,268	E93G	probably benign	Het
Mettl6	T	C	14: 31,479,726	E253G	probably damaging	Het
Nmu	A	T	5: 76,343,971	F106Y	probably damaging	Het
Pcsk7	T	C	9: 45,909,696	I142T	probably benign	Het
Polr3a	A	T	14: 24,486,871		probably null	Het
Psmb9	G	T	17: 34,185,733	A19E	probably damaging	Het
Pus7l	A	G	15: 94,531,575	M454T	probably benign	Het
Raet1e	A	G	10: 22,180,746	T74A	probably benign	Het
Ralb	A	C	1: 119,478,109	Y43*	probably null	Het
Ralgapa1	C	A	12: 55,683,910	E1947*	probably null	Het
Robo1	T	C	16: 72,972,046	Y500H	probably benign	Het
Shroom1	A	C	11: 53,463,387	T45P	probably benign	Het
Slit2	A	G	5: 47,984,986		probably benign	Het
Srgap3	T	C	6: 112,723,006	S1004G	probably damaging	Het
Taok2	A	G	7: 126,870,992	V888A	probably benign	Het
Tbc1d8	T	A	1: 39,402,899	D204V	probably damaging	Het
Trav7d-4	C	A	14: 52,770,167	A39D	probably damaging	Het
Ush2a	G	T	1: 188,267,032	E180*	probably null	Het
Vmn1r37	A	G	6: 66,731,579	D63G	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
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
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'- AAGGTGGATGCCCAAGCTAG -3'
(R):5'- GACCAAGTTAAGGGCCTAAGAC -3'

Sequencing Primer
(F):5'- CAGCTGCTGAACTTGGAGG -3'
(R):5'- TGAAGTCTACAGCGCTCA -3'

Posted On

2018-05-04