Mutagenetix > Incidental Mutation

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

Essential gene?

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

Stock #

IGL02016

Quality Score

Status

Chromosome

Chromosomal Location

75868235-75878804 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 75874945 bp (GRCm39)

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]

AlphaFold

Q505F4

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: 127,028,875 (GRCm39)	G108V	probably damaging	Het
A2ml1	T	C	6: 128,535,298 (GRCm39)	E804G	probably damaging	Het
Abcg4	G	A	9: 44,198,647 (GRCm39)	T35M	probably damaging	Het
Acad9	A	T	3: 36,142,635 (GRCm39)		probably null	Het
Adgrv1	T	C	13: 81,545,572 (GRCm39)	D5571G	probably damaging	Het
App	T	A	16: 84,853,409 (GRCm39)	D223V	unknown	Het
Arhgap30	A	G	1: 171,235,315 (GRCm39)	E563G	probably damaging	Het
Atp6v1e2	A	T	17: 87,251,822 (GRCm39)	V192D	probably damaging	Het
Atr	G	A	9: 95,809,228 (GRCm39)	V1969I	probably benign	Het
Bean1	T	C	8: 104,937,550 (GRCm39)	L43S	possibly damaging	Het
Cand1	A	G	10: 119,048,473 (GRCm39)	V436A	probably damaging	Het
Card6	T	C	15: 5,137,738 (GRCm39)	I39V	probably damaging	Het
Ccdc73	A	G	2: 104,805,961 (GRCm39)	T300A	probably benign	Het
Ccdc88c	T	C	12: 100,907,466 (GRCm39)	T962A	possibly damaging	Het
Chd6	G	T	2: 160,825,598 (GRCm39)	L1169I	probably damaging	Het
Chrna7	A	T	7: 62,753,583 (GRCm39)	V312E	probably damaging	Het
Dna2	A	G	10: 62,796,191 (GRCm39)	N540S	probably benign	Het
Elavl2	T	C	4: 91,149,172 (GRCm39)	E209G	probably damaging	Het
Elmo2	A	G	2: 165,136,932 (GRCm39)		probably null	Het
Fto	A	T	8: 92,393,034 (GRCm39)	R494*	probably null	Het
Garre1	A	G	7: 33,938,526 (GRCm39)	M791T	possibly damaging	Het
Gm9966	A	T	7: 95,608,014 (GRCm39)	T112S	unknown	Het
Gtf3c1	A	C	7: 125,267,211 (GRCm39)	I940S	probably damaging	Het
Hecw2	C	A	1: 53,870,702 (GRCm39)	Q1426H	possibly damaging	Het
Iars2	A	C	1: 185,035,503 (GRCm39)	L579R	probably damaging	Het
Ifih1	A	C	2: 62,437,328 (GRCm39)	M537R	probably benign	Het
Kcnmb4	A	G	10: 116,282,367 (GRCm39)		probably benign	Het
Large2	A	G	2: 92,199,888 (GRCm39)	V175A	possibly damaging	Het
Mad2l1bp	A	G	17: 46,464,428 (GRCm39)		probably benign	Het
Muc20	A	T	16: 32,617,722 (GRCm39)	F14Y	possibly damaging	Het
Myom2	A	G	8: 15,175,195 (GRCm39)	E1258G	probably benign	Het
Or8k28	A	T	2: 86,285,841 (GRCm39)	M258K	probably damaging	Het
Parp1	A	T	1: 180,426,516 (GRCm39)		probably null	Het
Pramel22	T	A	4: 143,381,889 (GRCm39)	E269V	possibly damaging	Het
Prkra	A	T	2: 76,473,653 (GRCm39)		probably null	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Scd1	C	T	19: 44,388,746 (GRCm39)	G235S	probably benign	Het
Sdk1	A	G	5: 142,020,184 (GRCm39)	H654R	possibly damaging	Het
Sesn3	A	G	9: 14,231,633 (GRCm39)	Y188C	probably damaging	Het
Slc26a4	T	C	12: 31,585,666 (GRCm39)	M461V	probably damaging	Het
Slc28a2	A	G	2: 122,285,822 (GRCm39)	I439V	probably benign	Het
Smc5	T	A	19: 23,251,076 (GRCm39)	N36I	probably benign	Het
Smurf2	A	G	11: 106,713,504 (GRCm39)	F745S	probably damaging	Het
Spata22	A	G	11: 73,226,857 (GRCm39)	N65S	possibly damaging	Het
Tanc1	A	G	2: 59,673,934 (GRCm39)	T1680A	probably benign	Het
Tnxb	G	A	17: 34,891,249 (GRCm39)	V531M	probably damaging	Het
Trpm3	T	G	19: 22,879,433 (GRCm39)	Y727*	probably null	Het
Tssk1	A	T	16: 17,712,758 (GRCm39)	Y181F	probably damaging	Het
Ucp3	T	A	7: 100,129,766 (GRCm39)	V136E	probably damaging	Het
Uqcrfs1	A	C	13: 30,729,097 (GRCm39)	V45G	probably benign	Het
Uvrag	A	G	7: 98,748,649 (GRCm39)	I101T	probably benign	Het
Vmn1r206	A	T	13: 22,804,334 (GRCm39)	L291Q	probably damaging	Het
Wnk2	T	A	13: 49,210,381 (GRCm39)	I1813F	probably damaging	Het
Zbtb3	T	A	19: 8,780,579 (GRCm39)	V64E	probably damaging	Het
Zeb2	A	G	2: 44,878,886 (GRCm39)	I1115T	possibly 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
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
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

2014-05-07