Mutagenetix > Incidental Mutation

Incidental Mutation 'R5182:Dpf3'

397629

Institutional Source

Beutler Lab

Gene Symbol

Dpf3

Ensembl Gene

ENSMUSG00000021221

Gene Name

double PHD fingers 3

Synonyms

cer-d4, CERD4, 2810403B03Rik, Gm18872

MMRRC Submission

042853-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.488) question?

Stock #

R5182 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83260519-83534490 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83417370 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 34 (E34G)

Ref Sequence

ENSEMBL: ENSMUSP00000136280 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000177801] [ENSMUST00000177959] [ENSMUST00000178756]

AlphaFold

P58269

Predicted Effect

probably benign
Transcript: ENSMUST00000177801

SMART Domains

Protein: ENSMUSP00000136740
Gene: ENSMUSG00000021221

Domain	Start	End	E-Value	Type
Pfam:Requiem_N	8	43	2.9e-13	PFAM
low complexity region	103	123	N/A	INTRINSIC
low complexity region	129	147	N/A	INTRINSIC
ZnF_C2H2	156	179	1.82e-3	SMART
PDB:2KWO\|A	218	250	4e-14	PDB
Blast:PHD	219	250	9e-14	BLAST
low complexity region	253	269	N/A	INTRINSIC
low complexity region	295	306	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000177959
AA Change: E34G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000137477
Gene: ENSMUSG00000021221
AA Change: E34G

Domain	Start	End	E-Value	Type
Pfam:Requiem_N	12	85	2.6e-40	PFAM
low complexity region	144	164	N/A	INTRINSIC
low complexity region	170	188	N/A	INTRINSIC
ZnF_C2H2	197	220	1.82e-3	SMART
PDB:2KWO\|A	259	291	4e-14	PDB
Blast:PHD	260	291	1e-13	BLAST
low complexity region	294	310	N/A	INTRINSIC
low complexity region	336	347	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000178756
AA Change: E34G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000136280
Gene: ENSMUSG00000021221
AA Change: E34G

Domain	Start	End	E-Value	Type
Pfam:Requiem_N	13	84	4.8e-40	PFAM
low complexity region	145	165	N/A	INTRINSIC
low complexity region	171	189	N/A	INTRINSIC
ZnF_C2H2	198	221	1.82e-3	SMART
PHD	261	317	3.27e-9	SMART
RING	262	316	3.44e0	SMART
PHD	318	364	1.53e-9	SMART
RING	319	363	1.38e0	SMART

Meta Mutation Damage Score

0.7851

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

100% (66/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the D4 protein family. The encoded protein is a transcription regulator that binds acetylated histones and is a component of the BAF chromatin remodeling complex. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a null allele display no detectable phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110059E24Rik	A	G	19: 21,608,129 (GRCm39)	M1T	probably null	Het
Abcg8	T	C	17: 85,000,172 (GRCm39)	L243P	probably damaging	Het
Ankrd27	A	G	7: 35,327,912 (GRCm39)	T811A	probably damaging	Het
Auts2	T	C	5: 131,503,919 (GRCm39)	N188S	probably null	Het
Bak1	G	A	17: 27,241,722 (GRCm39)	P65L	possibly damaging	Het
Cep350	A	C	1: 155,733,854 (GRCm39)	L3013R	probably damaging	Het
Clca3b	A	G	3: 144,533,776 (GRCm39)	I533T	probably damaging	Het
Col6a5	C	A	9: 105,734,531 (GRCm39)	E2637*	probably null	Het
Coq5	G	A	5: 115,417,815 (GRCm39)	R15H	probably benign	Het
Dnah5	T	G	15: 28,311,424 (GRCm39)	I1801S	probably damaging	Het
Dnhd1	G	A	7: 105,352,416 (GRCm39)	R2523Q	probably damaging	Het
Dst	C	A	1: 34,218,167 (GRCm39)	Q1536K	probably benign	Het
Eeig2	T	C	3: 108,892,667 (GRCm39)	K173E	possibly damaging	Het
Eng	T	C	2: 32,562,971 (GRCm39)		probably null	Het
Fignl1	A	T	11: 11,751,717 (GRCm39)	I446N	probably damaging	Het
Fras1	C	A	5: 96,784,032 (GRCm39)	C845*	probably null	Het
Gfm2	T	C	13: 97,299,401 (GRCm39)	V347A	probably damaging	Het
Gpld1	A	T	13: 25,168,053 (GRCm39)		probably null	Het
Grn	C	A	11: 102,321,380 (GRCm39)		probably benign	Het
Gsdmc4	C	A	15: 63,765,653 (GRCm39)	V299F	probably damaging	Het
Hrnr	A	T	3: 93,239,450 (GRCm39)	R3229S	unknown	Het
Icam5	A	G	9: 20,946,106 (GRCm39)	T313A	probably benign	Het
Ift172	T	A	5: 31,424,958 (GRCm39)	D668V	possibly damaging	Het
Kdm5a	T	A	6: 120,365,066 (GRCm39)	C322*	probably null	Het
Klk6	A	G	7: 43,478,084 (GRCm39)	K152R	probably benign	Het
Man1a2	A	C	3: 100,554,333 (GRCm39)	I250S	probably damaging	Het
Nkpd1	A	G	7: 19,257,181 (GRCm39)	Y170C	probably damaging	Het
Nmd3	T	A	3: 69,629,801 (GRCm39)		probably null	Het
Or2y3	A	G	17: 38,393,005 (GRCm39)	M288T	probably benign	Het
Or51f1	A	T	7: 102,506,176 (GRCm39)	D104E	probably benign	Het
Pax4	C	T	6: 28,444,368 (GRCm39)	E229K	probably benign	Het
Pdc	T	C	1: 150,209,105 (GRCm39)	I196T	possibly damaging	Het
Pld1	T	C	3: 28,099,230 (GRCm39)	I299T	probably damaging	Het
Pnma1	T	C	12: 84,193,819 (GRCm39)	I295V	probably benign	Het
Prkg2	T	A	5: 99,172,568 (GRCm39)	Y49F	probably benign	Het
Psmd12	T	C	11: 107,370,485 (GRCm39)	L28P	probably damaging	Het
Ptprg	A	G	14: 12,154,174 (GRCm38)	T632A	probably benign	Het
Rab43	A	G	6: 87,771,637 (GRCm39)	*118R	probably null	Het
Rabep1	C	T	11: 70,795,454 (GRCm39)	R227*	probably null	Het
Rad51c	T	G	11: 87,288,545 (GRCm39)	I213L	possibly damaging	Het
Ranbp17	A	T	11: 33,169,287 (GRCm39)		probably benign	Het
Ryr3	T	C	2: 112,585,495 (GRCm39)	E2735G	probably damaging	Het
Sdc3	A	G	4: 130,548,995 (GRCm39)		probably benign	Het
Sirpa	G	A	2: 129,457,652 (GRCm39)	R242H	possibly damaging	Het
Slc12a4	G	A	8: 106,671,238 (GRCm39)	T983M	probably damaging	Het
Snx7	A	G	3: 117,626,506 (GRCm39)	Y252H	probably damaging	Het
St18	C	T	1: 6,887,877 (GRCm39)	T482I	probably benign	Het
St7	A	G	6: 17,846,236 (GRCm39)	Y163C	probably damaging	Het
Tas2r140	A	T	6: 40,468,866 (GRCm39)	Q232L	probably benign	Het
Tgm6	A	T	2: 129,983,222 (GRCm39)	K270N	probably damaging	Het
Tiam2	G	A	17: 3,488,996 (GRCm39)	G768D	probably damaging	Het
Ttn	C	T	2: 76,700,773 (GRCm39)		probably benign	Het
Ube4b	A	C	4: 149,465,699 (GRCm39)	S250R	probably null	Het
Ubxn2a	G	A	12: 4,930,634 (GRCm39)	A242V	probably damaging	Het
Usp10	G	A	8: 120,683,420 (GRCm39)	V764I	possibly damaging	Het
Vmn1r222	A	G	13: 23,416,667 (GRCm39)	L182P	probably damaging	Het
Vmn2r114	A	G	17: 23,510,632 (GRCm39)	V616A	probably damaging	Het
Vps13a	A	G	19: 16,672,863 (GRCm39)	V1303A	possibly damaging	Het
Wnk2	G	T	13: 49,214,637 (GRCm39)	T1315K	possibly damaging	Het
Zfp936	G	A	7: 42,839,331 (GRCm39)	C266Y	probably damaging	Het
Zscan20	G	T	4: 128,480,504 (GRCm39)	N662K	possibly damaging	Het

Other mutations in Dpf3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01452:Dpf3	APN	12	83,316,263 (GRCm39)	missense	probably benign
IGL01719:Dpf3	APN	12	83,341,207 (GRCm39)	missense	probably damaging	0.99
IGL01950:Dpf3	APN	12	83,371,723 (GRCm39)	missense	probably benign	0.00
R0457:Dpf3	UTSW	12	83,319,179 (GRCm39)	missense	probably damaging	0.96
R1104:Dpf3	UTSW	12	83,378,761 (GRCm39)	missense	probably benign	0.30
R1565:Dpf3	UTSW	12	83,417,391 (GRCm39)	missense	probably damaging	0.98
R1969:Dpf3	UTSW	12	83,371,809 (GRCm39)	critical splice acceptor site	probably null
R1970:Dpf3	UTSW	12	83,371,809 (GRCm39)	critical splice acceptor site	probably null
R1971:Dpf3	UTSW	12	83,371,809 (GRCm39)	critical splice acceptor site	probably null
R2344:Dpf3	UTSW	12	83,397,594 (GRCm39)	missense	probably damaging	1.00
R3732:Dpf3	UTSW	12	83,316,281 (GRCm39)	missense	possibly damaging	0.90
R4828:Dpf3	UTSW	12	83,341,273 (GRCm39)	missense	possibly damaging	0.89
R4936:Dpf3	UTSW	12	83,378,740 (GRCm39)	missense	probably damaging	1.00
R4970:Dpf3	UTSW	12	83,417,385 (GRCm39)	nonsense	probably null
R4993:Dpf3	UTSW	12	83,378,635 (GRCm39)	critical splice donor site	probably null
R5112:Dpf3	UTSW	12	83,417,385 (GRCm39)	nonsense	probably null
R5638:Dpf3	UTSW	12	83,371,714 (GRCm39)	missense	probably damaging	1.00
R5657:Dpf3	UTSW	12	83,371,785 (GRCm39)	missense	probably damaging	0.98
R7472:Dpf3	UTSW	12	83,319,159 (GRCm39)	missense	probably benign	0.37
R7481:Dpf3	UTSW	12	83,378,701 (GRCm39)	missense	probably damaging	1.00
R8350:Dpf3	UTSW	12	83,397,625 (GRCm39)	missense	probably damaging	1.00
R9340:Dpf3	UTSW	12	83,534,449 (GRCm39)	critical splice donor site	probably null
R9634:Dpf3	UTSW	12	83,378,635 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GCTTATCTAACTCCCAACCCGG -3'
(R):5'- CCTTAATAGGGCTCTTGGTGCTC -3'

Sequencing Primer
(F):5'- GCCCAGCTGTGTGAACTCCTAG -3'
(R):5'- AATAGGGCTCTTGGTGCTCATTGG -3'

Posted On

2016-07-06