Mutagenetix > Incidental Mutation

Incidental Mutation 'R6522:Dpf2'

521443

Institutional Source

Beutler Lab

Gene Symbol

Dpf2

Ensembl Gene

ENSMUSG00000024826

Gene Name

double PHD fingers 2

Synonyms

ubi-d4, 2210010M07Rik, requiem, Baf45d, Req

MMRRC Submission

044648-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.905) question?

Stock #

R6522 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5946544-5962899 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 5955560 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 108 (K108*)

Ref Sequence

ENSEMBL: ENSMUSP00000120125 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000118623] [ENSMUST00000136983]

AlphaFold

Q61103

Predicted Effect

probably null
Transcript: ENSMUST00000025746
AA Change: K63*

SMART Domains

Protein: ENSMUSP00000025746
Gene: ENSMUSG00000024826
AA Change: K63*

Domain	Start	End	E-Value	Type
Pfam:Requiem_N	1	40	1.4e-19	PFAM
low complexity region	115	131	N/A	INTRINSIC
low complexity region	134	152	N/A	INTRINSIC
ZnF_C2H2	165	188	4.47e-3	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000118623
AA Change: K108*

SMART Domains

Protein: ENSMUSP00000113465
Gene: ENSMUSG00000024826
AA Change: K108*

Domain	Start	End	E-Value	Type
Pfam:Requiem_N	13	84	7.9e-40	PFAM
low complexity region	159	175	N/A	INTRINSIC
low complexity region	178	196	N/A	INTRINSIC
PDB:3IUF\|A	203	263	1e-21	PDB
PHD	286	342	8.64e-9	SMART
RING	287	341	3.83e0	SMART
PHD	343	389	8.9e-11	SMART
RING	344	388	9.75e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123029

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129816

Predicted Effect

probably null
Transcript: ENSMUST00000136983
AA Change: K108*

SMART Domains

Protein: ENSMUSP00000120125
Gene: ENSMUSG00000024826
AA Change: K108*

Domain	Start	End	E-Value	Type
Pfam:Requiem_N	12	85	6.2e-41	PFAM
low complexity region	159	175	N/A	INTRINSIC
low complexity region	178	196	N/A	INTRINSIC
ZnF_C2H2	209	232	4.47e-3	SMART
PHD	272	328	8.64e-9	SMART
RING	273	327	3.83e0	SMART
PHD	329	375	8.9e-11	SMART
RING	330	374	9.75e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137465

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142995

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154365

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.3%

Validation Efficiency

100% (56/56)

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 member of the d4 domain family, characterized by a zinc finger-like structural motif. This protein functions as a transcription factor which is necessary for the apoptotic response following deprivation of survival factors. It likely serves a regulatory role in rapid hematopoietic cell growth and turnover. This gene is considered a candidate gene for multiple endocrine neoplasia type I, an inherited cancer syndrome involving multiple parathyroid, enteropancreatic, and pituitary tumors. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a floxed allele are viable and fertile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	C	A	10: 10,253,636 (GRCm39)	E1209*	probably null	Het
Adgrg5	G	T	8: 95,668,696 (GRCm39)	R503L	probably benign	Het
Anks1b	C	T	10: 90,733,189 (GRCm39)		probably benign	Het
Anxa5	A	T	3: 36,519,451 (GRCm39)	F13I	probably damaging	Het
Bicd1	A	G	6: 149,385,503 (GRCm39)	I79V	probably benign	Het
Bnip1	A	G	17: 27,008,719 (GRCm39)	D107G	probably damaging	Het
Ccdc42	A	G	11: 68,479,046 (GRCm39)	E78G	probably damaging	Het
Ccnk	A	G	12: 108,153,446 (GRCm39)	D69G	probably damaging	Het
Clec2i	G	T	6: 128,870,692 (GRCm39)	V77F	probably damaging	Het
Clec4g	A	C	8: 3,768,803 (GRCm39)	V62G	probably benign	Het
Col4a4	G	A	1: 82,465,304 (GRCm39)	A957V	unknown	Het
Csnk1d	A	G	11: 120,862,449 (GRCm39)	F277L	probably damaging	Het
Dip2c	G	A	13: 9,625,264 (GRCm39)		probably null	Het
Dync1h1	G	A	12: 110,583,171 (GRCm39)	D423N	probably damaging	Het
Fbxl13	T	C	5: 21,766,554 (GRCm39)		probably null	Homo
Flad1	T	C	3: 89,310,490 (GRCm39)	R488G	probably damaging	Het
Galnt6	A	C	15: 100,591,236 (GRCm39)	*623E	probably null	Het
Gtf2e1	T	C	16: 37,331,816 (GRCm39)	T420A	possibly damaging	Het
Hspg2	T	C	4: 137,282,586 (GRCm39)	V3442A	probably damaging	Het
Itpr1	A	G	6: 108,365,237 (GRCm39)	D55G	probably damaging	Het
Kdm2a	C	A	19: 4,374,854 (GRCm39)	R759L	possibly damaging	Het
Kif19a	A	G	11: 114,676,605 (GRCm39)	E478G	probably damaging	Het
Lamb3	G	A	1: 193,017,761 (GRCm39)	V881I	probably benign	Het
Map3k6	T	C	4: 132,977,335 (GRCm39)	L894P	possibly damaging	Het
Mast4	A	G	13: 102,897,801 (GRCm39)		probably null	Het
Mst1r	G	A	9: 107,790,438 (GRCm39)	V684M	probably benign	Het
Naa15	T	C	3: 51,378,935 (GRCm39)	S727P	probably damaging	Het
Nap1l1	T	C	10: 111,330,084 (GRCm39)	L330S	probably damaging	Het
Nav2	A	G	7: 49,247,281 (GRCm39)	T2205A	probably damaging	Het
Ncf2	T	C	1: 152,703,214 (GRCm39)		probably null	Het
Opa1	T	A	16: 29,444,332 (GRCm39)	N839K	probably benign	Het
Or4c104	T	C	2: 88,586,452 (GRCm39)	D189G	probably damaging	Het
Or52a33	T	C	7: 103,288,504 (GRCm39)	Y281C	probably damaging	Het
Or52n4b	G	A	7: 108,144,202 (GRCm39)	V155I	probably benign	Het
Pcdha7	T	C	18: 37,106,995 (GRCm39)	Y7H	possibly damaging	Het
Pcdhb15	T	C	18: 37,607,314 (GRCm39)	V182A	probably benign	Het
Phf10	A	T	17: 15,176,269 (GRCm39)	I128N	probably damaging	Het
Plce1	T	A	19: 38,736,965 (GRCm39)		probably null	Het
Plxnb2	T	C	15: 89,048,629 (GRCm39)	N626S	probably benign	Het
Prh1	G	A	6: 132,548,996 (GRCm39)	G168R	unknown	Het
Prss51	A	G	14: 64,334,855 (GRCm39)	T137A	possibly damaging	Het
Ptprcap	C	T	19: 4,206,183 (GRCm39)	R89C	possibly damaging	Het
Scfd1	A	G	12: 51,478,324 (GRCm39)	K512R	probably benign	Het
Serpina1b	A	C	12: 103,701,296 (GRCm39)		probably null	Het
Setbp1	T	C	18: 78,900,605 (GRCm39)	T1021A	probably damaging	Het
Slco1b2	G	A	6: 141,601,145 (GRCm39)		probably null	Het
Snrnp200	C	T	2: 127,063,747 (GRCm39)	T642I	probably benign	Het
Tenm4	A	C	7: 96,492,251 (GRCm39)	I1063L	possibly damaging	Het
Tfb2m	G	A	1: 179,373,611 (GRCm39)	A29V	probably benign	Het
Tfeb	T	C	17: 48,100,627 (GRCm39)	V140A	probably damaging	Het
Tmem104	A	T	11: 115,134,579 (GRCm39)	I372F	probably damaging	Het
Tmem132d	G	T	5: 127,860,832 (GRCm39)	H1096Q	probably benign	Het
Trim12c	A	T	7: 103,997,531 (GRCm39)	N8K	probably benign	Het
Tti2	A	G	8: 31,643,631 (GRCm39)	I249V	probably null	Het
Vps8	T	A	16: 21,261,129 (GRCm39)	L90I	probably damaging	Het
Vwf	A	T	6: 125,639,926 (GRCm39)		probably null	Het
Wdfy4	A	G	14: 32,868,901 (GRCm39)	S376P	probably damaging	Het

Other mutations in Dpf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01769:Dpf2	APN	19	5,962,810 (GRCm39)	utr 5 prime	probably benign
Tilt	UTSW	19	5,955,560 (GRCm39)	nonsense	probably null
R0601:Dpf2	UTSW	19	5,952,240 (GRCm39)	missense	probably damaging	1.00
R0826:Dpf2	UTSW	19	5,957,155 (GRCm39)	missense	probably damaging	0.99
R1690:Dpf2	UTSW	19	5,955,490 (GRCm39)	missense	probably damaging	1.00
R1848:Dpf2	UTSW	19	5,956,643 (GRCm39)	missense	probably damaging	1.00
R2025:Dpf2	UTSW	19	5,952,781 (GRCm39)	missense	possibly damaging	0.95
R4193:Dpf2	UTSW	19	5,957,044 (GRCm39)	nonsense	probably null
R4648:Dpf2	UTSW	19	5,957,109 (GRCm39)	missense	probably damaging	1.00
R4668:Dpf2	UTSW	19	5,954,515 (GRCm39)	missense	probably benign	0.08
R4687:Dpf2	UTSW	19	5,957,040 (GRCm39)	missense	probably damaging	1.00
R4734:Dpf2	UTSW	19	5,957,027 (GRCm39)	critical splice donor site	probably null
R4763:Dpf2	UTSW	19	5,952,480 (GRCm39)	missense	probably damaging	1.00
R7206:Dpf2	UTSW	19	5,954,571 (GRCm39)	missense	possibly damaging	0.49
R7896:Dpf2	UTSW	19	5,954,333 (GRCm39)	missense	probably benign	0.00
R9138:Dpf2	UTSW	19	5,948,593 (GRCm39)	missense	probably benign
R9251:Dpf2	UTSW	19	5,957,166 (GRCm39)	missense	probably damaging	1.00
Z1088:Dpf2	UTSW	19	5,952,472 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACAAAGAAGAGGCTGGTCC -3'
(R):5'- TCTGAGTTAGAGCTTGCAGAC -3'

Sequencing Primer
(F):5'- AGGCTGGTCCTATTAAAGTCCTCTAG -3'
(R):5'- AGCTTGCTGGCTTAGTGAAAAC -3'

Posted On

2018-06-06