Mutagenetix > Incidental Mutations

Incidental Mutation 'R4968:Zfp280b'

384198

Institutional Source

Beutler Lab

Gene Symbol

Zfp280b

Ensembl Gene

ENSMUSG00000049764

Gene Name

zinc finger protein 280B

Synonyms

Suhw2, D10Jhu82e

MMRRC Submission

042564-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.303) question?

Stock #

R4968 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76032650-76043234 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 76039354 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 356 (V356L)

Ref Sequence

ENSEMBL: ENSMUSP00000056340 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000061617
AA Change: V356L

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

SMART Domains

Protein: ENSMUSP00000056340
Gene: ENSMUSG00000049764
AA Change: V356L

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

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.6%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	A	T	11: 58,878,790	K53*	probably null	Het
4921513D11Rik	T	C	17: 79,628,222	S255P	probably benign	Het
Ace	A	G	11: 105,981,853	N367S	possibly damaging	Het
Agl	A	T	3: 116,788,526	N282K	probably benign	Het
Ahnak	C	A	19: 9,015,100	P4583T	probably damaging	Het
Alpi	T	C	1: 87,101,525	D4G	probably benign	Het
Anks6	C	T	4: 47,030,795	G601S	probably damaging	Het
Aplnr	T	C	2: 85,136,945	Y105H	probably damaging	Het
Arhgap9	G	A	10: 127,327,006	R395K	possibly damaging	Het
Asah1	A	G	8: 41,354,030	M119T	possibly damaging	Het
Atp5b	T	C	10: 128,083,987	F75L	probably damaging	Het
B4galt6	G	T	18: 20,727,969	N75K	possibly damaging	Het
Bco1	A	T	8: 117,131,094	H486L	probably benign	Het
Btaf1	T	A	19: 36,969,951	L480Q	probably null	Het
Ccdc34	G	T	2: 110,040,733		probably null	Het
Ccdc36	C	T	9: 108,412,514	V170M	probably benign	Het
Cdh19	T	C	1: 110,925,228	S326G	probably benign	Het
Cep89	A	G	7: 35,409,630	D178G	possibly damaging	Het
Cyp11b2	A	T	15: 74,854,005		probably null	Het
Cyp21a1	A	G	17: 34,803,409	I157T	possibly damaging	Het
Dcbld2	A	G	16: 58,424,711	D116G	probably damaging	Het
Ddx5	T	C	11: 106,784,127	Q377R	probably damaging	Het
Deup1	T	C	9: 15,592,428	D279G	probably damaging	Het
F11	G	A	8: 45,245,733	A458V	probably benign	Het
Fhad1	C	A	4: 141,918,307	G326W	probably damaging	Het
Fhit	C	T	14: 10,421,522	V26M	probably damaging	Het
Gjb5	A	T	4: 127,356,222	V43E	probably damaging	Het
Grtp1	A	T	8: 13,192,184	I75N	probably damaging	Het
Hmcn1	A	G	1: 150,657,470	I3022T	possibly damaging	Het
Hsp90ab1	T	C	17: 45,571,036	T166A	probably benign	Het
Ikbke	GCC	G	1: 131,275,267		probably null	Het
Kcnk10	T	C	12: 98,434,902	I491V	probably benign	Het
Kcp	A	T	6: 29,497,629	C519*	probably null	Het
Lcmt2	T	C	2: 121,139,736	T69A	probably benign	Het
Lmf1	A	G	17: 25,585,618	Y90C	probably damaging	Het
Lpp	A	G	16: 24,979,314	D612G	probably damaging	Het
Lrfn5	C	A	12: 61,839,675	S83Y	probably damaging	Het
Lrp1b	T	C	2: 40,702,707		probably null	Het
Lrp1b	C	T	2: 41,789,062	C6Y	probably damaging	Het
Lrrc8c	A	G	5: 105,607,127	D256G	probably damaging	Het
Mphosph10	A	G	7: 64,382,908	Y478H	probably damaging	Het
Mpp2	T	C	11: 102,064,298	H167R	probably benign	Het
Mtss1	A	G	15: 58,943,918	S598P	probably damaging	Het
Myh10	A	G	11: 68,793,223	E1154G	probably damaging	Het
Myo10	T	C	15: 25,808,184	V1218A	probably damaging	Het
Myo19	A	G	11: 84,901,502	K599R	probably damaging	Het
Neurl4	T	C	11: 69,907,308	M771T	probably damaging	Het
Nlrc4	A	G	17: 74,446,941	V149A	probably benign	Het
Nup133	A	T	8: 123,915,196	S843T	probably benign	Het
Olfr1386	T	C	11: 49,470,531	C127R	probably damaging	Het
Olfr639	T	C	7: 104,012,570	N44S	probably damaging	Het
P3h2	A	G	16: 25,992,662		probably null	Het
Piezo2	A	T	18: 63,144,971	Y287*	probably null	Het
Prob1	T	C	18: 35,652,552	Y883C	probably damaging	Het
Pxdn	T	A	12: 30,000,012	H506Q	probably benign	Het
Ripor3	T	C	2: 167,985,117	D658G	probably benign	Het
Rufy1	T	A	11: 50,410,607	I333L	probably benign	Het
Selenok	T	A	14: 29,970,107	V34E	probably benign	Het
Selplg	T	C	5: 113,819,726	E173G	possibly damaging	Het
Sept10	A	G	10: 59,181,121	F194L	probably damaging	Het
Sptbn2	A	T	19: 4,729,202		probably null	Het
St6galnac6	C	T	2: 32,608,086	P6S	probably benign	Het
Syngr2	T	C	11: 117,813,470	Y194H	probably damaging	Het
Thbs4	A	G	13: 92,758,068	I649T	possibly damaging	Het
Triobp	T	A	15: 78,966,616	N323K	probably benign	Het
Ttc30b	T	C	2: 75,938,047	I121V	probably benign	Het
Tuba8	T	A	6: 121,220,589	L70Q	probably damaging	Het
Vmn2r61	A	G	7: 42,300,054	T633A	probably benign	Het
Zswim4	A	T	8: 84,217,372	V746D	probably benign	Het

Other mutations in Zfp280b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01394:Zfp280b	APN	10	76039663	missense	probably damaging	0.99
IGL02016:Zfp280b	APN	10	76039111	missense	possibly damaging	0.68
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
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	unclassified	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

Predicted Primers

PCR Primer
(F):5'- ATGCCCCAGCTGCTTGAAAG -3'
(R):5'- TATGGCATCCCAGTTTTGAAGATC -3'

Sequencing Primer
(F):5'- CATCATTTGGAGCTCGAGA -3'
(R):5'- GGCATCCCAGTTTTGAAGATCTTAAG -3'

Posted On

2016-04-27