Mutagenetix > Incidental Mutation

Incidental Mutation 'R5551:Zfp282'

435119

Institutional Source

Beutler Lab

Gene Symbol

Zfp282

Ensembl Gene

ENSMUSG00000025821

Gene Name

zinc finger protein 282

Synonyms

HUB1

MMRRC Submission

043108-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R5551 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

47854138-47885419 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 47867579 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 252 (A252S)

Ref Sequence

ENSEMBL: ENSMUSP00000053643 (fasta)

Gene Model

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

AlphaFold

E9PVC2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061890
AA Change: A252S

PolyPhen 2 Score 0.590 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000053643
Gene: ENSMUSG00000025821
AA Change: A252S

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AB041806	G	T	4: 138,123,312 (GRCm39)	P3T	probably damaging	Het
Abl1	C	T	2: 31,691,682 (GRCm39)	A1048V	probably benign	Het
Acap2	A	G	16: 30,923,726 (GRCm39)	V659A	probably damaging	Het
Acox1	A	G	11: 116,080,317 (GRCm39)	S29P	possibly damaging	Het
Adamts1	A	G	16: 85,594,634 (GRCm39)	I405T	probably benign	Het
Afm	A	T	5: 90,679,511 (GRCm39)	E335V	probably null	Het
Akap6	C	T	12: 52,842,747 (GRCm39)	P32S	probably damaging	Het
Alk	T	C	17: 72,182,028 (GRCm39)	M1332V	possibly damaging	Het
Ankrd39	C	T	1: 36,581,062 (GRCm39)	G96R	probably damaging	Het
Atp2c1	C	A	9: 105,336,936 (GRCm39)	A16S	probably damaging	Het
Ccdc141	T	C	2: 76,844,753 (GRCm39)	E1438G	probably damaging	Het
Csmd2	T	C	4: 128,404,741 (GRCm39)	Y2376H	possibly damaging	Het
Csmd3	T	C	15: 48,177,492 (GRCm39)	T349A	probably benign	Het
Ctsr	A	T	13: 61,307,357 (GRCm39)	M313K	probably damaging	Het
Dot1l	CCAGCCCCACCCTCAGCC	CCAGCC	10: 80,619,462 (GRCm39)		probably benign	Het
Dync2h1	A	G	9: 7,031,718 (GRCm39)	S3516P	possibly damaging	Het
Ehd4	A	G	2: 119,958,100 (GRCm39)	S162P	possibly damaging	Het
Ets2	T	C	16: 95,513,165 (GRCm39)	W114R	probably damaging	Het
Fignl1	A	T	11: 11,751,603 (GRCm39)	V484E	probably damaging	Het
Golph3	C	A	15: 12,321,922 (GRCm39)	S35R	probably benign	Het
Gzf1	T	C	2: 148,526,248 (GRCm39)	Y240H	probably damaging	Het
Hook3	A	G	8: 26,558,639 (GRCm39)	F75S	possibly damaging	Het
Ifi209	T	A	1: 173,468,763 (GRCm39)	S198T	probably benign	Het
Iqch	A	T	9: 63,403,535 (GRCm39)		probably null	Het
Katnip	T	C	7: 125,419,249 (GRCm39)	F472S	probably damaging	Het
Lrrk2	C	T	15: 91,696,553 (GRCm39)	T2447I	probably benign	Het
Mesp2	T	C	7: 79,461,367 (GRCm39)	S231P	probably benign	Het
Muc5b	T	C	7: 141,422,240 (GRCm39)	C4459R	possibly damaging	Het
Myh10	A	G	11: 68,659,113 (GRCm39)	E497G	possibly damaging	Het
Nalcn	A	T	14: 123,515,698 (GRCm39)	V1701E	possibly damaging	Het
Nat8f1	T	C	6: 85,887,891 (GRCm39)	D23G	probably damaging	Het
Nfia	G	A	4: 97,902,497 (GRCm39)	E250K	probably damaging	Het
Nup155	A	G	15: 8,177,817 (GRCm39)	M1067V	probably benign	Het
Or4k36	T	C	2: 111,145,916 (GRCm39)	F31L	possibly damaging	Het
Pde4d	T	A	13: 110,084,930 (GRCm39)		probably null	Het
Rtn4	G	A	11: 29,691,011 (GRCm39)	V1101I	probably damaging	Het
Sema4c	A	G	1: 36,591,398 (GRCm39)	Y348H	probably damaging	Het
Sema6a	A	G	18: 47,381,595 (GRCm39)	V958A	possibly damaging	Het
Sez6l2	A	G	7: 126,566,002 (GRCm39)	Y677C	probably damaging	Het
Smad5	T	C	13: 56,883,654 (GRCm39)	C347R	probably damaging	Het
Smim19	A	G	8: 22,953,383 (GRCm39)	Y95H	probably benign	Het
Srrm2	C	A	17: 24,037,450 (GRCm39)		probably benign	Het
Ssb	A	G	2: 69,701,474 (GRCm39)	K390E	probably damaging	Het
Tars1	G	A	15: 11,392,068 (GRCm39)	T248M	probably damaging	Het
Tcirg1	A	T	19: 3,948,858 (GRCm39)	F442L	probably damaging	Het
Tex55	A	G	16: 38,648,336 (GRCm39)	Y258H	probably benign	Het
Tlk2	A	G	11: 105,112,133 (GRCm39)	E162G	probably benign	Het
Tmc6	A	G	11: 117,660,271 (GRCm39)	C656R	probably damaging	Het
Ttn	G	T	2: 76,719,406 (GRCm39)		probably benign	Het
Uqcrc2	C	T	7: 120,244,461 (GRCm39)	T201I	probably damaging	Het
Zfp473	G	C	7: 44,383,575 (GRCm39)	P253A	probably benign	Het
Zfp541	A	G	7: 15,824,786 (GRCm39)	N1068D	probably damaging	Het
Zfp946	A	G	17: 22,674,365 (GRCm39)	Q373R	probably damaging	Het
Zmat2	G	A	18: 36,927,010 (GRCm39)	G6R	probably benign	Het

Other mutations in Zfp282

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00732:Zfp282	APN	6	47,857,324 (GRCm39)	missense	probably damaging	1.00
IGL00755:Zfp282	APN	6	47,857,324 (GRCm39)	missense	probably damaging	1.00
IGL01402:Zfp282	APN	6	47,874,770 (GRCm39)	missense	probably damaging	0.99
IGL01404:Zfp282	APN	6	47,874,770 (GRCm39)	missense	probably damaging	0.99
IGL01484:Zfp282	APN	6	47,867,054 (GRCm39)	missense	possibly damaging	0.76
IGL01560:Zfp282	APN	6	47,857,211 (GRCm39)	missense	probably damaging	1.00
IGL02949:Zfp282	APN	6	47,874,848 (GRCm39)	missense	probably damaging	1.00
FR4304:Zfp282	UTSW	6	47,881,731 (GRCm39)	small insertion	probably benign
FR4589:Zfp282	UTSW	6	47,881,725 (GRCm39)	small insertion	probably benign
FR4737:Zfp282	UTSW	6	47,881,733 (GRCm39)	small insertion	probably benign
FR4737:Zfp282	UTSW	6	47,881,724 (GRCm39)	small insertion	probably benign
FR4976:Zfp282	UTSW	6	47,881,724 (GRCm39)	small insertion	probably benign
R0020:Zfp282	UTSW	6	47,856,943 (GRCm39)	missense	probably damaging	1.00
R0020:Zfp282	UTSW	6	47,856,943 (GRCm39)	missense	probably damaging	1.00
R0118:Zfp282	UTSW	6	47,869,866 (GRCm39)	missense	probably benign	0.34
R0415:Zfp282	UTSW	6	47,881,987 (GRCm39)	missense	possibly damaging	0.88
R0415:Zfp282	UTSW	6	47,874,815 (GRCm39)	missense	probably damaging	0.99
R0607:Zfp282	UTSW	6	47,857,303 (GRCm39)	missense	probably damaging	1.00
R0710:Zfp282	UTSW	6	47,857,318 (GRCm39)	missense	probably damaging	1.00
R0946:Zfp282	UTSW	6	47,856,943 (GRCm39)	missense	probably damaging	1.00
R1054:Zfp282	UTSW	6	47,881,533 (GRCm39)	missense	probably benign	0.00
R1401:Zfp282	UTSW	6	47,867,108 (GRCm39)	nonsense	probably null
R1572:Zfp282	UTSW	6	47,869,801 (GRCm39)	missense	probably damaging	1.00
R2016:Zfp282	UTSW	6	47,874,721 (GRCm39)	splice site	probably null
R2971:Zfp282	UTSW	6	47,874,866 (GRCm39)	splice site	probably null
R4064:Zfp282	UTSW	6	47,857,028 (GRCm39)	missense	probably damaging	0.99
R4478:Zfp282	UTSW	6	47,867,630 (GRCm39)	nonsense	probably null
R4530:Zfp282	UTSW	6	47,867,567 (GRCm39)	missense	probably benign	0.00
R4532:Zfp282	UTSW	6	47,867,567 (GRCm39)	missense	probably benign	0.00
R5068:Zfp282	UTSW	6	47,854,637 (GRCm39)	missense	probably benign	0.01
R5261:Zfp282	UTSW	6	47,874,824 (GRCm39)	missense	probably damaging	0.99
R5326:Zfp282	UTSW	6	47,882,261 (GRCm39)	missense	probably benign
R6046:Zfp282	UTSW	6	47,857,102 (GRCm39)	missense	probably damaging	1.00
R6408:Zfp282	UTSW	6	47,857,319 (GRCm39)	missense	probably damaging	1.00
R7535:Zfp282	UTSW	6	47,881,878 (GRCm39)	missense	probably benign	0.03
R8098:Zfp282	UTSW	6	47,867,652 (GRCm39)	missense	probably benign	0.00
R8158:Zfp282	UTSW	6	47,867,626 (GRCm39)	missense	possibly damaging	0.61
R8304:Zfp282	UTSW	6	47,881,722 (GRCm39)	small deletion	probably benign
R8385:Zfp282	UTSW	6	47,882,023 (GRCm39)	missense	possibly damaging	0.88
R8543:Zfp282	UTSW	6	47,881,561 (GRCm39)	missense	probably benign	0.40
R8817:Zfp282	UTSW	6	47,881,760 (GRCm39)	missense	probably benign	0.00
S24628:Zfp282	UTSW	6	47,881,987 (GRCm39)	missense	possibly damaging	0.88
S24628:Zfp282	UTSW	6	47,874,815 (GRCm39)	missense	probably damaging	0.99
Z1177:Zfp282	UTSW	6	47,867,571 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGGCCTGCTTTCAAGATTCC -3'
(R):5'- ACAGCTGTGGTATAAGTGGTTCC -3'

Sequencing Primer
(F):5'- CAAGATTCCTTCTGCACATAATGGC -3'
(R):5'- TTCCTGGGTGCATTAAGACC -3'

Posted On

2016-10-24