Mutagenetix > Incidental Mutation

Incidental Mutation 'R8385:Zfp282'

647114

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 #

R8385 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

47877204-47908485 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 47905089 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 570 (Y570F)

Ref Sequence

ENSEMBL: ENSMUSP00000053643 (fasta)

Gene Model

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

AlphaFold

E9PVC2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061890
AA Change: Y570F

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000053643
Gene: ENSMUSG00000025821
AA Change: Y570F

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: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930572O03Rik	A	T	5: 15,652,671	S203T	unknown	Het
4933406M09Rik	A	G	1: 134,390,638	K383E	probably benign	Het
Brap	C	T	5: 121,685,134	T473I	probably benign	Het
Cacna1e	T	A	1: 154,443,941	M1400L	probably damaging	Het
Casc1	C	T	6: 145,175,192	E685K	probably damaging	Het
Catsper2	A	G	2: 121,410,140	I127T	possibly damaging	Het
Dbt	A	T	3: 116,523,390	I72F	probably damaging	Het
Ddhd2	T	C	8: 25,735,014	H592R	probably damaging	Het
Disp2	T	A	2: 118,790,410	M541K	probably damaging	Het
Dnmbp	T	C	19: 43,889,651	D327G	probably benign	Het
Dvl1	A	G	4: 155,855,580	S390G	possibly damaging	Het
Fam205a1	C	T	4: 42,850,509	R549H	possibly damaging	Het
Fbxo22	A	G	9: 55,213,949	D106G	probably damaging	Het
Gfm2	A	G	13: 97,165,011	T441A	probably benign	Het
Gm5431	T	C	11: 48,889,520	I192V	probably damaging	Het
Gosr1	T	A	11: 76,730,141	T241S	possibly damaging	Het
Hk2	T	C	6: 82,729,546	S792G	probably benign	Het
Itsn1	A	C	16: 91,893,811	K1302Q	unknown	Het
Kif16b	T	C	2: 142,712,338	K847E	probably benign	Het
Lfng	G	A	5: 140,613,226	E297K	probably damaging	Het
Mark3	A	G	12: 111,655,374	D650G	possibly damaging	Het
Mob3b	T	C	4: 34,985,980	Y186C	probably damaging	Het
Mphosph9	T	C	5: 124,312,722	K329E	probably benign	Het
Mta1	A	T	12: 113,131,465	M448L	probably benign	Het
Mterf1a	A	T	5: 3,891,384	N161K	probably damaging	Het
Myo10	T	A	15: 25,804,398	I1593N	probably damaging	Het
Naca	A	G	10: 128,042,438	N1113S	unknown	Het
Olfr1362	T	C	13: 21,611,352	I206V	probably benign	Het
Olfr513	T	G	7: 108,755,304	Y149*	probably null	Het
Pcdhga1	A	T	18: 37,662,096	D51V	probably damaging	Het
Peg3	T	C	7: 6,708,083	E1380G	probably damaging	Het
Pkd1	G	A	17: 24,575,728	V2130M	possibly damaging	Het
Pla2g4c	C	T	7: 13,329,664	P19S	probably benign	Het
Popdc2	G	A	16: 38,362,900	V82I	probably benign	Het
Ppfibp2	A	G	7: 107,697,687	R203G	probably benign	Het
Rab19	T	A	6: 39,383,958	N13K	probably benign	Het
Raet1d	T	A	10: 22,370,918	D48E	probably benign	Het
Rell1	T	A	5: 63,930,518	K136*	probably null	Het
Slc38a4	A	G	15: 96,999,512	I474T	probably damaging	Het
Slf1	T	C	13: 77,105,990	M243V	probably benign	Het
Spg11	A	T	2: 122,097,321	S661T	probably benign	Het
Thra	C	G	11: 98,768,351	S435R	probably benign	Het
Tmem181a	T	C	17: 6,288,999	I61T	probably benign	Het
Ttpa	G	A	4: 20,028,483	G247S	probably damaging	Het
Usp17lb	C	T	7: 104,840,623	V366I	possibly damaging	Het
Vit	A	T	17: 78,619,637	Q337L	probably benign	Het
Vmn2r102	A	G	17: 19,693,826	Y551C	possibly damaging	Het
Vps52	T	C	17: 33,962,817	L539P	probably damaging	Het
Ythdc1	C	A	5: 86,828,102	P529T	possibly damaging	Het
Zdhhc13	T	C	7: 48,805,696		probably null	Het
Zfp872	A	T	9: 22,200,111	K295N	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
R8304:Zfp282	UTSW	6	47904788	small deletion	probably benign
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'- CCCTACTCTTGCCTGGAATG -3'
(R):5'- AACCCTAGTCTCTTTCTGGTGG -3'

Sequencing Primer
(F):5'- TGGAATGCGGCAAGACCTTC -3'
(R):5'- AGTGACTCCTTGTAGCGGAAG -3'

Posted On

2020-09-02