Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02245:Zfp280b'

286172

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

Essential gene?

Probably non essential (E-score: 0.198) question?

Stock #

IGL02245

Quality Score

Status

Chromosome

Chromosomal Location

75868235-75878804 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75875197 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 359 (S359P)

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: S359P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000056340
Gene: ENSMUSG00000049764
AA Change: S359P

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	C	14: 32,381,772 (GRCm39)	I1398V	probably benign	Het
Abca5	G	A	11: 110,188,995 (GRCm39)	Q821*	probably null	Het
Bcl9	A	T	3: 97,116,009 (GRCm39)	L895Q	probably damaging	Het
Cpne7	A	G	8: 123,844,357 (GRCm39)	D41G	probably damaging	Het
Daxx	A	G	17: 34,131,351 (GRCm39)		probably benign	Het
Dbx2	A	G	15: 95,522,628 (GRCm39)	Y360H	probably damaging	Het
Dpy19l2	T	C	9: 24,607,321 (GRCm39)	T47A	probably benign	Het
Ephb3	T	C	16: 21,040,174 (GRCm39)	V512A	probably benign	Het
Exoc2	T	C	13: 31,090,842 (GRCm39)	D254G	probably benign	Het
Gtpbp1	G	T	15: 79,575,127 (GRCm39)	R7L	probably benign	Het
Gucy2c	A	T	6: 136,706,201 (GRCm39)	I500N	probably benign	Het
H2ac6	A	T	13: 23,867,783 (GRCm39)	Y40N	probably damaging	Het
H2ac6	G	T	13: 23,867,784 (GRCm39)	N39K	possibly damaging	Het
Hormad2	T	C	11: 4,358,580 (GRCm39)		probably benign	Het
Impg2	A	G	16: 56,089,445 (GRCm39)	Q1130R	probably damaging	Het
Itga4	T	A	2: 79,150,903 (GRCm39)	D836E	probably benign	Het
Loxhd1	A	T	18: 77,427,797 (GRCm39)	T456S	possibly damaging	Het
Lyst	G	A	13: 13,835,541 (GRCm39)	C1741Y	probably benign	Het
Map1b	T	C	13: 99,568,036 (GRCm39)	T1562A	unknown	Het
Mre11a	C	T	9: 14,726,572 (GRCm39)		probably benign	Het
Myh1	A	C	11: 67,102,313 (GRCm39)	E868A	possibly damaging	Het
Nlrp4e	T	G	7: 23,020,300 (GRCm39)	S262R	probably damaging	Het
Nlrp9a	C	T	7: 26,257,318 (GRCm39)	T223I	probably benign	Het
Nosip	A	G	7: 44,723,466 (GRCm39)	D44G	probably benign	Het
Nr6a1	C	T	2: 38,630,565 (GRCm39)	M217I	probably benign	Het
Numa1	A	G	7: 101,649,601 (GRCm39)	T1111A	probably benign	Het
Or6c6c	T	A	10: 129,541,608 (GRCm39)	I287N	probably damaging	Het
Pms1	A	G	1: 53,246,519 (GRCm39)	L340P	probably damaging	Het
Prmt7	T	C	8: 106,963,937 (GRCm39)	V277A	probably benign	Het
Pxmp4	T	C	2: 154,429,870 (GRCm39)	Y173C	probably damaging	Het
Rbm11	G	T	16: 75,389,896 (GRCm39)	V21L	possibly damaging	Het
Rims1	A	G	1: 22,416,712 (GRCm39)	S1123P	probably damaging	Het
Rnf220	C	T	4: 117,156,734 (GRCm39)		probably benign	Het
Rnf41	T	G	10: 128,273,196 (GRCm39)	*123G	probably null	Het
Samhd1	C	T	2: 156,952,475 (GRCm39)	D426N	possibly damaging	Het
Scn10a	A	G	9: 119,501,218 (GRCm39)	W189R	probably damaging	Het
Slco1a6	A	G	6: 142,055,150 (GRCm39)	F265L	probably damaging	Het
Spag16	A	G	1: 69,897,661 (GRCm39)	D137G	probably benign	Het
Srsf12	G	A	4: 33,209,103 (GRCm39)		probably benign	Het
Suclg2	A	G	6: 95,572,722 (GRCm39)	I81T	possibly damaging	Het
Tmc1	C	T	19: 20,776,556 (GRCm39)	R601H	probably damaging	Het
Trim33	T	C	3: 103,254,086 (GRCm39)		probably null	Het
Vit	A	G	17: 78,932,480 (GRCm39)	D529G	probably damaging	Het
Wbp1l	C	T	19: 46,643,057 (GRCm39)	H353Y	possibly damaging	Het
Wdr70	A	T	15: 8,075,965 (GRCm39)	V170D	possibly damaging	Het
Ythdc2	T	A	18: 44,995,751 (GRCm39)	I947N	possibly damaging	Het
Zfp936	T	C	7: 42,836,722 (GRCm39)		probably null	Het
Zscan4d	T	A	7: 10,896,716 (GRCm39)	Y218F	probably benign	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
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
R5123:Zfp280b	UTSW	10	75,875,183 (GRCm39)	missense	probably benign	0.02
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

Posted On

2015-04-16