Mutagenetix > Incidental Mutation

Incidental Mutation 'R5123:Zfp280b'

393405

Institutional Source

Beutler Lab

Gene Symbol

Zfp280b

Ensembl Gene

ENSMUSG00000049764

Gene Name

zinc finger protein 280B

Synonyms

Suhw2, D10Jhu82e

MMRRC Submission

042711-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.230) question?

Stock #

R5123 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75868235-75878804 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75875183 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 354 (D354G)

Ref Sequence

ENSEMBL: ENSMUSP00000056340 (fasta)

Gene Model

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

AlphaFold

Q505F4

Predicted Effect

probably benign
Transcript: ENSMUST00000061617
AA Change: D354G

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000056340
Gene: ENSMUSG00000049764
AA Change: D354G

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.5%

Validation Efficiency

98% (53/54)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	G	A	17: 24,603,434 (GRCm39)	G542D	possibly damaging	Het
Adh6b	A	G	3: 138,063,450 (GRCm39)	Y343C	probably damaging	Het
Adsl	T	A	15: 80,836,495 (GRCm39)		probably null	Het
Apob	T	A	12: 8,057,630 (GRCm39)		probably null	Het
Atp6ap1l	T	A	13: 91,047,017 (GRCm39)		probably benign	Het
Cacnb3	A	G	15: 98,537,750 (GRCm39)	D74G	probably damaging	Het
Cfap251	A	G	5: 123,411,696 (GRCm39)		probably benign	Het
Clca3a2	T	A	3: 144,512,104 (GRCm39)	D544V	probably damaging	Het
Col3a1	G	A	1: 45,372,756 (GRCm39)		probably benign	Het
D7Ertd443e	A	G	7: 133,951,397 (GRCm39)		probably null	Het
Dscam	T	C	16: 96,573,637 (GRCm39)	D775G	probably damaging	Het
Eif2b3	T	A	4: 116,879,408 (GRCm39)	M16K	probably damaging	Het
Eml5	T	C	12: 98,840,771 (GRCm39)	Y281C	probably damaging	Het
Epha2	T	A	4: 141,036,176 (GRCm39)	L204Q	possibly damaging	Het
Filip1l	A	C	16: 57,391,025 (GRCm39)	I538L	possibly damaging	Het
Gcnt2	T	A	13: 41,071,831 (GRCm39)	V158D	probably damaging	Het
Gnaq	A	G	19: 16,309,449 (GRCm39)	N162S	probably benign	Het
Haus5	A	T	7: 30,353,651 (GRCm39)	N575K	probably benign	Het
Hjurp	A	T	1: 88,202,772 (GRCm39)	Y71N	possibly damaging	Het
Igsf5	A	G	16: 96,174,279 (GRCm39)	D103G	probably damaging	Het
Myo10	A	G	15: 25,726,569 (GRCm39)	D297G	possibly damaging	Het
Net1	C	T	13: 3,936,623 (GRCm39)	R314H	probably damaging	Het
Or4b1c	C	A	2: 90,126,512 (GRCm39)	R231L	probably benign	Het
Or4k51	T	A	2: 111,584,897 (GRCm39)	V101D	probably damaging	Het
Pcsk4	C	A	10: 80,157,979 (GRCm39)	Q586H	probably null	Het
Pramel11	A	T	4: 143,623,706 (GRCm39)	M156K	probably benign	Het
Prss1	A	G	6: 41,440,131 (GRCm39)	D156G	possibly damaging	Het
Rnf133	A	T	6: 23,649,259 (GRCm39)	N266K	probably damaging	Het
Setd2	G	T	9: 110,446,595 (GRCm39)	A2482S	possibly damaging	Het
Sgo2a	A	T	1: 58,055,726 (GRCm39)	S637C	probably damaging	Het
Slc2a5	C	A	4: 150,224,262 (GRCm39)	S290*	probably null	Het
Spata6	T	G	4: 111,625,992 (GRCm39)	H120Q	possibly damaging	Het
Stk11	G	A	10: 79,963,775 (GRCm39)	V194I	probably damaging	Het
Tkt	T	C	14: 30,287,603 (GRCm39)	V199A	probably benign	Het
Traf3	G	A	12: 111,209,952 (GRCm39)	V183M	possibly damaging	Het
Trappc11	T	C	8: 47,966,437 (GRCm39)	Y483C	probably damaging	Het
Trappc9	T	C	15: 72,785,215 (GRCm39)		probably benign	Het
Trim59	T	C	3: 68,945,067 (GRCm39)	H91R	probably benign	Het
Ttc21a	A	G	9: 119,781,278 (GRCm39)	S484G	probably benign	Het
Usp13	A	T	3: 32,969,947 (GRCm39)	H691L	probably benign	Het
Vmn1r238	T	C	18: 3,123,243 (GRCm39)	Y57C	probably benign	Het
Vmn2r111	T	A	17: 22,790,124 (GRCm39)	Q294L	possibly damaging	Het
Vmn2r17	A	G	5: 109,575,774 (GRCm39)	D215G	possibly damaging	Het
Zfp607a	A	G	7: 27,578,523 (GRCm39)	H531R	probably damaging	Het
Zfp74	A	T	7: 29,634,158 (GRCm39)	C517S	probably damaging	Het

Other mutations in Zfp280b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01394:Zfp280b	APN	10	75,875,497 (GRCm39)	missense	probably damaging	0.99
IGL02016:Zfp280b	APN	10	75,874,945 (GRCm39)	missense	possibly damaging	0.68
IGL02245:Zfp280b	APN	10	75,875,197 (GRCm39)	missense	probably benign
IGL03233:Zfp280b	APN	10	75,875,603 (GRCm39)	missense	probably damaging	1.00
R0864:Zfp280b	UTSW	10	75,874,139 (GRCm39)	missense	probably benign	0.00
R1501:Zfp280b	UTSW	10	75,875,603 (GRCm39)	missense	probably damaging	1.00
R1643:Zfp280b	UTSW	10	75,875,444 (GRCm39)	missense	probably damaging	1.00
R2004:Zfp280b	UTSW	10	75,874,370 (GRCm39)	missense	probably benign	0.00
R2024:Zfp280b	UTSW	10	75,874,328 (GRCm39)	missense	probably damaging	1.00
R2025:Zfp280b	UTSW	10	75,874,328 (GRCm39)	missense	probably damaging	1.00
R2027:Zfp280b	UTSW	10	75,874,328 (GRCm39)	missense	probably damaging	1.00
R2064:Zfp280b	UTSW	10	75,875,017 (GRCm39)	missense	probably damaging	1.00
R3729:Zfp280b	UTSW	10	75,874,936 (GRCm39)	missense	probably benign	0.33
R4634:Zfp280b	UTSW	10	75,874,663 (GRCm39)	missense	probably benign	0.00
R4812:Zfp280b	UTSW	10	75,874,924 (GRCm39)	missense	probably benign	0.24
R4968:Zfp280b	UTSW	10	75,875,188 (GRCm39)	missense	probably damaging	1.00
R5007:Zfp280b	UTSW	10	75,875,048 (GRCm39)	missense	probably damaging	1.00
R5503:Zfp280b	UTSW	10	75,875,296 (GRCm39)	splice site	probably null
R5552:Zfp280b	UTSW	10	75,875,497 (GRCm39)	nonsense	probably null
R6954:Zfp280b	UTSW	10	75,875,522 (GRCm39)	missense	probably benign	0.36
R7299:Zfp280b	UTSW	10	75,874,537 (GRCm39)	missense	probably damaging	0.98
R7301:Zfp280b	UTSW	10	75,874,537 (GRCm39)	missense	probably damaging	0.98
R7485:Zfp280b	UTSW	10	75,875,075 (GRCm39)	missense	probably damaging	1.00
R9170:Zfp280b	UTSW	10	75,874,651 (GRCm39)	missense	probably benign	0.22
R9346:Zfp280b	UTSW	10	75,875,126 (GRCm39)	missense	possibly damaging	0.66

Predicted Primers

PCR Primer
(F):5'- TTAAATGCCCCAGCTGCTTG -3'
(R):5'- ATGGCATCCCAGTTTTGAAGATC -3'

Sequencing Primer
(F):5'- TCATTTGGAGCTCGAGAG -3'
(R):5'- ACTTTGTAAAGTGTGTCTCCACG -3'

Posted On

2016-06-15