Mutagenetix > Incidental Mutation

Incidental Mutation 'R0826:Dpf2'

78268

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

039006-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.905) question?

Stock #

R0826 (G1)

Quality Score

207

Status

Validated

Chromosome

Chromosomal Location

5946544-5962899 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 5957155 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 23 (Q23K)

Ref Sequence

ENSEMBL: ENSMUSP00000113465 (fasta)

Gene Model

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

AlphaFold

Q61103

Predicted Effect

probably benign
Transcript: ENSMUST00000025746

SMART Domains

Protein: ENSMUSP00000025746
Gene: ENSMUSG00000024826

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 damaging
Transcript: ENSMUST00000118623
AA Change: Q23K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113465
Gene: ENSMUSG00000024826
AA Change: Q23K

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

possibly damaging
Transcript: ENSMUST00000136983
AA Change: Q23K

PolyPhen 2 Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000120125
Gene: ENSMUSG00000024826
AA Change: Q23K

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: ENSMUST00000155937

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154365

Meta Mutation Damage Score

0.1502

Coding Region Coverage

1x: 99.5%
3x: 98.6%
10x: 95.7%
20x: 86.3%

Validation Efficiency

100% (69/69)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	T	7: 40,642,480 (GRCm39)	T141S	probably benign	Het
4931406C07Rik	T	C	9: 15,203,292 (GRCm39)		probably null	Het
Adamts16	T	A	13: 70,916,811 (GRCm39)	D727V	possibly damaging	Het
Anxa10	A	C	8: 62,529,318 (GRCm39)	L133*	probably null	Het
Arfgef3	G	A	10: 18,465,414 (GRCm39)	T2143I	probably damaging	Het
Arhgef17	T	C	7: 100,579,950 (GRCm39)	T333A	probably benign	Het
Arhgef40	A	G	14: 52,238,450 (GRCm39)	T1310A	probably benign	Het
Atg10	C	T	13: 91,084,705 (GRCm39)		probably null	Het
Atp1a1	A	G	3: 101,492,169 (GRCm39)	F569S	probably damaging	Het
Baiap3	A	G	17: 25,464,203 (GRCm39)	W849R	possibly damaging	Het
Baz1a	A	T	12: 54,977,097 (GRCm39)	Y9*	probably null	Het
Catsperg2	C	T	7: 29,405,049 (GRCm39)	D702N	possibly damaging	Het
Clasrp	G	T	7: 19,318,226 (GRCm39)		probably benign	Het
Col11a1	G	A	3: 113,932,414 (GRCm39)	R113H	unknown	Het
Col19a1	T	C	1: 24,565,467 (GRCm39)	K288R	unknown	Het
Ctnnbl1	C	T	2: 157,641,337 (GRCm39)		probably benign	Het
Cttnbp2	A	G	6: 18,405,177 (GRCm39)		probably benign	Het
Dnah1	T	A	14: 31,025,864 (GRCm39)	I828F	probably benign	Het
Dsc3	T	A	18: 20,114,229 (GRCm39)	I342F	probably damaging	Het
Enpp3	A	G	10: 24,671,614 (GRCm39)	L460P	probably damaging	Het
Epb41l2	A	G	10: 25,380,090 (GRCm39)	E871G	probably damaging	Het
Exoc2	T	C	13: 31,040,780 (GRCm39)		probably null	Het
Fam243	G	A	16: 92,118,075 (GRCm39)	S71L	probably benign	Het
Fpr-rs7	A	T	17: 20,333,888 (GRCm39)	S201T	probably benign	Het
Gtf2ird2	T	C	5: 134,245,797 (GRCm39)	F685S	probably damaging	Het
Helz2	C	T	2: 180,882,646 (GRCm39)	R49H	possibly damaging	Het
Ica1	A	G	6: 8,667,375 (GRCm39)		probably benign	Het
Ift56	A	G	6: 38,402,049 (GRCm39)		probably null	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Kif21a	A	G	15: 90,881,744 (GRCm39)		probably null	Het
Lamb3	T	A	1: 193,013,216 (GRCm39)	C480*	probably null	Het
Lamc2	A	G	1: 153,027,828 (GRCm39)	S199P	probably damaging	Het
Lrfn3	T	C	7: 30,059,676 (GRCm39)	N183S	probably benign	Het
Lsm14a	C	A	7: 34,070,470 (GRCm39)		probably benign	Het
Mest	C	A	6: 30,742,813 (GRCm39)	H146Q	probably damaging	Het
Mmp27	T	C	9: 7,579,010 (GRCm39)	V339A	probably damaging	Het
Myo16	T	C	8: 10,426,285 (GRCm39)		probably benign	Het
Myoz1	C	T	14: 20,703,679 (GRCm39)		probably benign	Het
Nlrp5	A	G	7: 23,117,133 (GRCm39)	M286V	probably benign	Het
Optc	T	C	1: 133,832,893 (GRCm39)	K69R	probably benign	Het
Or13c3	C	T	4: 52,855,566 (GRCm39)	V316I	probably benign	Het
Or2y1c	A	T	11: 49,361,158 (GRCm39)	Y60F	probably damaging	Het
Or4a77	A	C	2: 89,487,181 (GRCm39)	N201K	possibly damaging	Het
Or8g18	C	T	9: 39,149,725 (GRCm39)	M1I	probably null	Het
Osbpl3	A	T	6: 50,323,357 (GRCm39)	M242K	probably damaging	Het
Pdzd9	T	A	7: 120,267,624 (GRCm39)	S64C	probably damaging	Het
Pik3cg	A	G	12: 32,245,672 (GRCm39)	S859P	possibly damaging	Het
Ppp1r12a	G	T	10: 108,066,414 (GRCm39)	A202S	possibly damaging	Het
Rab32	A	T	10: 10,426,611 (GRCm39)	F112I	possibly damaging	Het
Ror2	T	C	13: 53,267,253 (GRCm39)	Y394C	probably damaging	Het
Rtn3	A	G	19: 7,445,245 (GRCm39)		probably benign	Het
Sbk1	C	T	7: 125,891,007 (GRCm39)	P147L	probably damaging	Het
Shpk	T	A	11: 73,094,857 (GRCm39)	M91K	probably damaging	Het
Slco6c1	C	T	1: 97,055,826 (GRCm39)	S25N	probably benign	Het
Snx2	A	T	18: 53,327,594 (GRCm39)	T107S	probably benign	Het
Tle2	G	A	10: 81,422,148 (GRCm39)	V397I	possibly damaging	Het
Tmem131l	T	C	3: 83,805,724 (GRCm39)	D1573G	probably damaging	Het
Tnfrsf8	A	G	4: 145,011,708 (GRCm39)		probably benign	Het
Tpmt	T	C	13: 47,194,965 (GRCm39)	E36G	probably benign	Het
Trim30c	T	A	7: 104,032,688 (GRCm39)	T257S	probably benign	Het
Tsc2	A	G	17: 24,815,932 (GRCm39)	L150P	probably benign	Het
Upf3a	G	C	8: 13,848,338 (GRCm39)	G378A	possibly damaging	Het
Yeats2	A	T	16: 20,011,966 (GRCm39)	K514*	probably null	Het
Zfp11	A	G	5: 129,734,589 (GRCm39)	Y291H	probably benign	Het
Zfp457	T	C	13: 67,441,378 (GRCm39)	D399G	possibly 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
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
R6522:Dpf2	UTSW	19	5,955,560 (GRCm39)	nonsense	probably null
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'- TGTCACCTTTCCCAAAGCCTGAAAC -3'
(R):5'- GCAGATTGAATCCAGAGCCCTGTG -3'

Sequencing Primer
(F):5'- AAGCCTGAAACTTTACCTGGTC -3'
(R):5'- cagaatgaaagagaccttgcc -3'

Posted On

2013-10-16