Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02016:Zfp280b'

183740

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zfp280b

Ensembl Gene

ENSMUSG00000049764

Gene Name

zinc finger protein 280B

Synonyms

Suhw2, D10Jhu82e

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.274) question?

Stock #

IGL02016

Quality Score

Status

Chromosome

Chromosomal Location

76032650-76043234 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 76039111 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 275 (L275F)

Ref Sequence

ENSEMBL: ENSMUSP00000056340 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061617] [ENSMUST00000218627]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061617
AA Change: L275F

PolyPhen 2 Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000056340
Gene: ENSMUSG00000049764
AA Change: L275F

Domain	Start	End	E-Value	Type
low complexity region	8	19	N/A	INTRINSIC
low complexity region	29	37	N/A	INTRINSIC
Pfam:DUF4195	53	227	1.3e-38	PFAM
ZnF_C2H2	297	318	3.65e1	SMART
ZnF_C2H2	334	357	9.46e0	SMART
ZnF_C2H2	364	387	8.22e-2	SMART
ZnF_C2H2	394	417	4.23e0	SMART
ZnF_C2H2	423	445	1.72e1	SMART
ZnF_C2H2	451	474	2.12e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000218627

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a transcription factor that upregulates expression of MDM2, which negatively regulates p53 expression. This gene is highly expressed in prostate cancer cells, which leads to a reduction in p53 levels and an increase in growth of the cancer cells. Several transcript variants have been found for this gene, but only one of them is protein-coding. [provided by RefSeq, Jan 2015]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810024B03Rik	C	A	2: 127,186,955	G108V	probably damaging	Het
4931406P16Rik	A	G	7: 34,239,101	M791T	possibly damaging	Het
A2ml1	T	C	6: 128,558,335	E804G	probably damaging	Het
Abcg4	G	A	9: 44,287,350	T35M	probably damaging	Het
Acad9	A	T	3: 36,088,486		probably null	Het
Adgrv1	T	C	13: 81,397,453	D5571G	probably damaging	Het
App	T	A	16: 85,056,521	D223V	unknown	Het
Arhgap30	A	G	1: 171,407,747	E563G	probably damaging	Het
Atp6v1e2	A	T	17: 86,944,394	V192D	probably damaging	Het
Atr	G	A	9: 95,927,175	V1969I	probably benign	Het
Bean1	T	C	8: 104,210,918	L43S	possibly damaging	Het
Cand1	A	G	10: 119,212,568	V436A	probably damaging	Het
Card6	T	C	15: 5,108,256	I39V	probably damaging	Het
Ccdc73	A	G	2: 104,975,616	T300A	probably benign	Het
Ccdc88c	T	C	12: 100,941,207	T962A	possibly damaging	Het
Chd6	G	T	2: 160,983,678	L1169I	probably damaging	Het
Chrna7	A	T	7: 63,103,835	V312E	probably damaging	Het
Dna2	A	G	10: 62,960,412	N540S	probably benign	Het
Elavl2	T	C	4: 91,260,935	E209G	probably damaging	Het
Elmo2	A	G	2: 165,295,012		probably null	Het
Fto	A	T	8: 91,666,406	R494*	probably null	Het
Gm13088	T	A	4: 143,655,319	E269V	possibly damaging	Het
Gm9966	A	T	7: 95,958,807	T112S	unknown	Het
Gtf3c1	A	C	7: 125,668,039	I940S	probably damaging	Het
Hecw2	C	A	1: 53,831,543	Q1426H	possibly damaging	Het
Iars2	A	C	1: 185,303,306	L579R	probably damaging	Het
Ifih1	A	C	2: 62,606,984	M537R	probably benign	Het
Kcnmb4	A	G	10: 116,446,462		probably benign	Het
Large2	A	G	2: 92,369,543	V175A	possibly damaging	Het
Mad2l1bp	A	G	17: 46,153,502		probably benign	Het
Muc20	A	T	16: 32,797,352	F14Y	possibly damaging	Het
Myom2	A	G	8: 15,125,195	E1258G	probably benign	Het
Olfr1066	A	T	2: 86,455,497	M258K	probably damaging	Het
Parp1	A	T	1: 180,598,951		probably null	Het
Prkra	A	T	2: 76,643,309		probably null	Het
Ror2	C	T	13: 53,110,728	S764N	probably damaging	Het
Scd1	C	T	19: 44,400,307	G235S	probably benign	Het
Sdk1	A	G	5: 142,034,429	H654R	possibly damaging	Het
Sesn3	A	G	9: 14,320,337	Y188C	probably damaging	Het
Slc26a4	T	C	12: 31,535,667	M461V	probably damaging	Het
Slc28a2	A	G	2: 122,455,341	I439V	probably benign	Het
Smc5	T	A	19: 23,273,712	N36I	probably benign	Het
Smurf2	A	G	11: 106,822,678	F745S	probably damaging	Het
Spata22	A	G	11: 73,336,031	N65S	possibly damaging	Het
Tanc1	A	G	2: 59,843,590	T1680A	probably benign	Het
Tnxb	G	A	17: 34,672,275	V531M	probably damaging	Het
Trpm3	T	G	19: 22,902,069	Y727*	probably null	Het
Tssk1	A	T	16: 17,894,894	Y181F	probably damaging	Het
Ucp3	T	A	7: 100,480,559	V136E	probably damaging	Het
Uqcrfs1	A	C	13: 30,545,114	V45G	probably benign	Het
Uvrag	A	G	7: 99,099,442	I101T	probably benign	Het
Vmn1r206	A	T	13: 22,620,164	L291Q	probably damaging	Het
Wnk2	T	A	13: 49,056,905	I1813F	probably damaging	Het
Zbtb3	T	A	19: 8,803,215	V64E	probably damaging	Het
Zeb2	A	G	2: 44,988,874	I1115T	possibly damaging	Het

Other mutations in Zfp280b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01394:Zfp280b	APN	10	76039663	missense	probably damaging	0.99
IGL02245:Zfp280b	APN	10	76039363	missense	probably benign
IGL03233:Zfp280b	APN	10	76039769	missense	probably damaging	1.00
R0864:Zfp280b	UTSW	10	76038305	missense	probably benign	0.00
R1501:Zfp280b	UTSW	10	76039769	missense	probably damaging	1.00
R1643:Zfp280b	UTSW	10	76039610	missense	probably damaging	1.00
R2004:Zfp280b	UTSW	10	76038536	missense	probably benign	0.00
R2024:Zfp280b	UTSW	10	76038494	missense	probably damaging	1.00
R2025:Zfp280b	UTSW	10	76038494	missense	probably damaging	1.00
R2027:Zfp280b	UTSW	10	76038494	missense	probably damaging	1.00
R2064:Zfp280b	UTSW	10	76039183	missense	probably damaging	1.00
R3729:Zfp280b	UTSW	10	76039102	missense	probably benign	0.33
R4634:Zfp280b	UTSW	10	76038829	missense	probably benign	0.00
R4812:Zfp280b	UTSW	10	76039090	missense	probably benign	0.24
R4968:Zfp280b	UTSW	10	76039354	missense	probably damaging	1.00
R5007:Zfp280b	UTSW	10	76039214	missense	probably damaging	1.00
R5123:Zfp280b	UTSW	10	76039349	missense	probably benign	0.02
R5503:Zfp280b	UTSW	10	76039462	splice site	probably null
R5552:Zfp280b	UTSW	10	76039663	nonsense	probably null
R6954:Zfp280b	UTSW	10	76039688	missense	probably benign	0.36
R7299:Zfp280b	UTSW	10	76038703	missense	probably damaging	0.98
R7301:Zfp280b	UTSW	10	76038703	missense	probably damaging	0.98
R7485:Zfp280b	UTSW	10	76039241	missense	probably damaging	1.00

Posted On

2014-05-07