Mutagenetix > Incidental Mutations

Incidental Mutation 'R7301:Zfp280b'

566991

Institutional Source

Beutler Lab

Gene Symbol

Zfp280b

Ensembl Gene

ENSMUSG00000049764

Gene Name

zinc finger protein 280B

Synonyms

Suhw2, D10Jhu82e

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.232) question?

Stock #

R7301 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

76032650-76043234 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 76038703 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Glutamic Acid at position 139 (Q139E)

Ref Sequence

ENSEMBL: ENSMUSP00000056340 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000061617
AA Change: Q139E

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000056340
Gene: ENSMUSG00000049764
AA Change: Q139E

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm3	G	A	7: 119,777,085	S345N	possibly damaging	Het
Agk	A	T	6: 40,329,517	T7S	possibly damaging	Het
Ankrd26	T	C	6: 118,511,663	E1345G	possibly damaging	Het
Atp1a3	T	A	7: 24,990,515	Y493F	probably benign	Het
Atxn2l	G	T	7: 126,494,211	Y791*	probably null	Het
Cacng8	C	A	7: 3,415,421	T363K	probably benign	Het
Camkmt	A	G	17: 85,431,493	T216A	probably benign	Het
Cd2ap	G	A	17: 42,830,013	R212*	probably null	Het
Cnppd1	A	G	1: 75,136,424	L400P	probably damaging	Het
Csmd2	C	A	4: 128,528,262	D2797E		Het
Ddx24	A	G	12: 103,419,450	M298T	possibly damaging	Het
Dpyd	T	C	3: 118,899,284	V359A	possibly damaging	Het
Dscam	T	C	16: 97,056,532	T93A	probably benign	Het
Eif2b3	T	A	4: 117,052,822	S185T	probably benign	Het
Entpd2	T	A	2: 25,400,909	I475N	possibly damaging	Het
Ercc2	C	A	7: 19,394,135	Q715K	probably benign	Het
Fam122a	T	A	19: 24,477,124	H78L	probably benign	Het
Fam122a	T	A	19: 24,477,346	E4V	probably damaging	Het
Fam186b	T	C	15: 99,278,748	R754G	probably benign	Het
Fcgbp	T	A	7: 28,093,436	V955E	possibly damaging	Het
Frrs1	T	C	3: 116,895,563	V361A	possibly damaging	Het
Gabrr2	T	A	4: 33,095,284	M391K	probably benign	Het
Gm12394	T	C	4: 42,792,923	N403S	possibly damaging	Het
Gm3409	T	A	5: 146,539,547	D169E	probably benign	Het
Gm4779	TCGGGGCCGGGGCCGGGGCCG	TCGGGGCCGGGGCCGGGGCCGGGGCCG	X: 101,794,171		probably benign	Het
Greb1l	C	G	18: 10,544,970	Q1433E	probably damaging	Het
Hal	T	C	10: 93,492,561	V233A	probably benign	Het
Ighv1-58	A	T	12: 115,312,295	N74K	probably benign	Het
Il12rb1	A	G	8: 70,813,699	I229M	possibly damaging	Het
Il17rd	T	C	14: 27,076,391	I56T	possibly damaging	Het
Itpr1	T	C	6: 108,542,024	V2708A	possibly damaging	Het
Klhl38	G	A	15: 58,322,980	R118W	probably damaging	Het
Lmf2	C	A	15: 89,355,530		probably benign	Het
Lrrc3b	T	C	14: 15,357,934	Y224C	probably damaging	Het
Med1	A	C	11: 98,152,808	F599C	probably benign	Het
Mrgprb4	A	G	7: 48,198,758	S141P	probably damaging	Het
Mst1r	G	T	9: 107,914,790	A842S	possibly damaging	Het
Myo3a	T	C	2: 22,544,466		probably null	Het
Nos1	A	T	5: 117,867,905	D230V	possibly damaging	Het
Nppb	T	C	4: 147,986,323	S52P	probably benign	Het
Nqo1	A	G	8: 107,392,648	I99T	probably damaging	Het
Olfr346	T	A	2: 36,688,011	M3K	probably benign	Het
Olfr769	T	C	10: 129,111,699	H242R	probably damaging	Het
Pcdha3	G	A	18: 36,946,924	E240K	possibly damaging	Het
Plpp7	T	G	2: 32,096,055	F82V	probably benign	Het
Podxl	G	T	6: 31,524,436	P395T	probably damaging	Het
Prr5l	T	A	2: 101,717,286	D298V	probably damaging	Het
Rad9b	A	G	5: 122,352,614	V13A	possibly damaging	Het
Rasl2-9	A	G	7: 5,125,740	W64R	probably damaging	Het
Rilp	G	T	11: 75,510,116		probably benign	Het
Ripor2	T	C	13: 24,725,001	I1034T	possibly damaging	Het
Rtn4ip1	T	C	10: 43,936,020	Y338H	probably damaging	Het
Shisa5	G	T	9: 109,054,884		probably benign	Het
Slc27a4	C	T	2: 29,812,932	T591I	probably null	Het
Snx24	G	T	18: 53,340,172	V63F	probably damaging	Het
Sptbn1	A	T	11: 30,117,798	Y1805*	probably null	Het
Svep1	G	A	4: 58,046,587	Q3515*	probably null	Het
Synpo2	A	C	3: 123,114,053	M538R	probably benign	Het
Tfap2a	T	C	13: 40,721,308	K276E	probably damaging	Het
Tmem158	C	A	9: 123,260,301	S82I	probably damaging	Het
Tmtc3	G	T	10: 100,447,474	H740N	not run	Het
Top3a	A	T	11: 60,748,148	F559I	probably damaging	Het
Tysnd1	C	A	10: 61,696,549	P327T	possibly damaging	Het
Ulk4	T	A	9: 121,145,059	D969V	probably benign	Het
Vcan	T	A	13: 89,705,266	Y525F	probably benign	Het
Vmn1r127	A	G	7: 21,319,053	F270S	probably benign	Het
Vmn1r204	G	A	13: 22,556,805	S202N	probably damaging	Het
Vmn2r107	A	G	17: 20,345,616	I64M	probably benign	Het
Zfp322a	C	T	13: 23,357,144	G143S	probably benign	Het
Zfp322a	C	A	13: 23,357,143	G143V	probably damaging	Het
Zfyve26	A	T	12: 79,282,984	V476D	probably benign	Het
Zkscan6	A	T	11: 65,828,225	H357L	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
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
R7485:Zfp280b	UTSW	10	76039241	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGCATGACCGACTTAGAGC -3'
(R):5'- GTCCTCTGTTGCATATTCGAGG -3'

Sequencing Primer
(F):5'- TTAGAGCAACCACGACTCAGAGG -3'
(R):5'- GCTGAAGAAAGTGGTTCTACAATCTC -3'

Posted On

2019-06-26