Mutagenetix > Incidental Mutation

Incidental Mutation 'R3732:Dpf3'

356391

Institutional Source

Beutler Lab

Gene Symbol

Dpf3

Ensembl Gene

ENSMUSG00000021221

Gene Name

D4, zinc and double PHD fingers, family 3

Synonyms

cer-d4, 2810403B03Rik, CERD4

MMRRC Submission

040720-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.438) question?

Stock #

R3732 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83213745-83487716 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83269507 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 330 (D330G)

Ref Sequence

ENSEMBL: ENSMUSP00000137477 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000140327] [ENSMUST00000177801] [ENSMUST00000177959] [ENSMUST00000178756]

AlphaFold

P58269

Predicted Effect

unknown
Transcript: ENSMUST00000133282
AA Change: D265G

SMART Domains

Protein: ENSMUSP00000121199
Gene: ENSMUSG00000021221
AA Change: D265G

Domain	Start	End	E-Value	Type
low complexity region	80	100	N/A	INTRINSIC
low complexity region	106	124	N/A	INTRINSIC
ZnF_C2H2	133	156	1.82e-3	SMART
PDB:2KWO\|A	195	227	2e-14	PDB
Blast:PHD	196	227	5e-14	BLAST
low complexity region	230	246	N/A	INTRINSIC
low complexity region	272	283	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000140327

SMART Domains

Protein: ENSMUSP00000120700
Gene: ENSMUSG00000021221

Domain	Start	End	E-Value	Type
PDB:2KWO\|A	35	75	2e-16	PDB
Blast:PHD	36	75	8e-16	BLAST

Predicted Effect

unknown
Transcript: ENSMUST00000144237
AA Change: D266G

SMART Domains

Protein: ENSMUSP00000122004
Gene: ENSMUSG00000021221
AA Change: D266G

Domain	Start	End	E-Value	Type
low complexity region	81	101	N/A	INTRINSIC
low complexity region	107	125	N/A	INTRINSIC
ZnF_C2H2	134	157	1.82e-3	SMART
PDB:2KWO\|A	196	228	2e-14	PDB
Blast:PHD	197	228	5e-14	BLAST
low complexity region	231	247	N/A	INTRINSIC
low complexity region	273	284	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000147469

SMART Domains

Protein: ENSMUSP00000122598
Gene: ENSMUSG00000021221

Domain	Start	End	E-Value	Type
low complexity region	81	101	N/A	INTRINSIC
low complexity region	107	125	N/A	INTRINSIC
ZnF_C2H2	134	157	1.82e-3	SMART
PHD	197	253	3.27e-9	SMART
RING	198	252	3.44e0	SMART
PHD	254	300	1.53e-9	SMART
RING	255	299	1.38e0	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000177801
AA Change: D289G

SMART Domains

Protein: ENSMUSP00000136740
Gene: ENSMUSG00000021221
AA Change: D289G

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

possibly damaging
Transcript: ENSMUST00000177959
AA Change: D330G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000137477
Gene: ENSMUSG00000021221
AA Change: D330G

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 benign
Transcript: ENSMUST00000178756

SMART Domains

Protein: ENSMUSP00000136280
Gene: ENSMUSG00000021221

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

0.0600

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.6%

Validation Efficiency

93% (56/60)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006E09Rik	C	T	11: 101,988,452	Q17*	probably null	Het
1700012B07Rik	G	T	11: 109,794,154	C172*	probably null	Het
Aacs	C	T	5: 125,506,262	T294M	probably damaging	Het
Ablim1	A	T	19: 57,049,460		probably null	Het
Adgrf4	C	T	17: 42,672,581	G70E	probably damaging	Het
Adgrl3	C	A	5: 81,794,946	H1474Q	probably benign	Het
Adgrv1	T	C	13: 81,556,956	I1578M	probably damaging	Het
Afg3l1	G	A	8: 123,501,233	G547D	probably damaging	Het
Ambra1	G	A	2: 91,810,131	R635H	probably damaging	Het
Araf	TACACACACACACACACA	TACACACACACACACA	X: 20,850,226		probably benign	Het
Arhgef10l	AGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGA	4: 140,581,619		probably benign	Het
Bcl7b	A	G	5: 135,180,913	T141A	probably benign	Het
Calm5	T	A	13: 3,854,337	N10K	probably damaging	Het
Camsap1	T	C	2: 25,938,344	R1123G	probably damaging	Het
Chrna3	T	C	9: 55,015,894	K210R	probably benign	Het
Ciz1	A	G	2: 32,367,483	N180S	possibly damaging	Het
Cntnap3	G	A	13: 64,740,999	A1162V	possibly damaging	Het
Cox5b	C	T	1: 36,693,260	P114L	probably damaging	Het
Cpsf2	T	C	12: 101,987,308	I199T	probably damaging	Het
Cyp2a4	A	G	7: 26,312,827	D345G	probably damaging	Het
Cyp2s1	C	T	7: 25,803,954	R424Q	probably null	Het
D1Pas1	C	A	1: 186,968,097	S74R	probably benign	Het
Ddx4	T	A	13: 112,611,982	I487F	possibly damaging	Het
Dnah5	A	T	15: 28,409,122	E3562V	possibly damaging	Het
Edem1	T	C	6: 108,841,621	F197L	probably damaging	Het
Ergic2	T	C	6: 148,202,522	D79G	probably damaging	Het
Espl1	A	G	15: 102,312,989	I944V	probably damaging	Het
Fam102a	G	A	2: 32,566,292	S322N	probably benign	Het
Fam111a	T	C	19: 12,587,550	L221P	possibly damaging	Het
Fat1	T	C	8: 44,953,269	V1019A	possibly damaging	Het
Fbxl21	T	A	13: 56,527,017	H60Q	probably benign	Het
Fbxw7	A	C	3: 84,925,707	K19Q	possibly damaging	Het
Gldn	A	G	9: 54,338,662	K499R	possibly damaging	Het
Gm5514	T	G	19: 21,938,252		noncoding transcript	Het
Gria4	C	T	9: 4,513,295	M271I	probably benign	Het
Herc1	C	T	9: 66,445,640	T2136I	probably damaging	Het
Igsf10	A	G	3: 59,325,714	F1866S	probably benign	Het
Iqcg	G	T	16: 33,053,626		probably benign	Het
Itih2	A	T	2: 10,105,670	F537I	probably benign	Het
Itpr2	T	C	6: 146,382,700	D533G	probably damaging	Het
Kcnk15	A	G	2: 163,853,813	K22E	probably benign	Het
Lag3	A	T	6: 124,910,140	S155T	probably benign	Het
Lars	T	C	18: 42,212,602	E1003G	probably benign	Het
Layn	T	A	9: 51,059,544	N233I	probably damaging	Het
Lgi1	T	C	19: 38,306,246	Y465H	probably damaging	Het
Lrig1	C	T	6: 94,611,576	A531T	possibly damaging	Het
Lrrtm4	A	G	6: 80,019,655		probably benign	Het
Lsamp	T	A	16: 42,144,572	L264H	probably damaging	Het
Mthfd2	T	C	6: 83,313,475	E39G	probably damaging	Het
Mtx2	C	A	2: 74,847,262	A22E	probably damaging	Het
Nipal3	T	C	4: 135,463,846	T325A	probably damaging	Het
Nlrp14	A	T	7: 107,182,367	Y257F	probably benign	Het
Ola1	G	C	2: 73,156,860	R143G	probably damaging	Het
Olfr301	T	G	7: 86,412,633	I90M	probably damaging	Het
Otog	A	G	7: 46,288,368	T1834A	probably benign	Het
Oxr1	T	C	15: 41,848,701	I656T	probably damaging	Het
Panx1	GTTCTTCT	GTTCT	9: 15,006,171		probably benign	Het
Pcdh18	T	C	3: 49,754,791	S692G	probably benign	Het
Pcdhga1	A	G	18: 37,664,123	T727A	probably benign	Het
Pde9a	A	G	17: 31,448,427	E3G	possibly damaging	Het
Prl8a1	T	C	13: 27,579,733	E37G	probably damaging	Het
Rlf	C	T	4: 121,148,324	G1153D	probably benign	Het
Robo2	A	C	16: 73,920,747	L1159W	possibly damaging	Het
Sfxn5	T	C	6: 85,299,276		probably benign	Het
Siah2	A	G	3: 58,676,250	V205A	probably damaging	Het
Spindoc	A	C	19: 7,374,301	L202R	probably damaging	Het
Spock3	T	A	8: 63,345,699	D251E	probably damaging	Het
Srp68	T	A	11: 116,273,956	K51*	probably null	Het
Ssbp2	T	C	13: 91,524,607	Y29H	probably damaging	Het
Sspo	T	C	6: 48,449,930	V231A	probably damaging	Het
Stk4	T	A	2: 164,088,908	M143K	probably benign	Het
Tecta	C	T	9: 42,392,106	V77M	possibly damaging	Het
Trpc3	A	T	3: 36,638,559	D761E	probably benign	Het
Tubb2a	T	C	13: 34,075,264	E181G	probably damaging	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Ush2a	C	A	1: 188,944,760	N4756K	probably benign	Het
Vmn2r-ps159	G	T	4: 156,334,397		noncoding transcript	Het
Wapl	G	A	14: 34,736,764	V928I	probably damaging	Het
Zfand3	A	G	17: 30,192,656	K130R	probably benign	Het
Zfp934	A	T	13: 62,517,785	H347Q	probably damaging	Het

Other mutations in Dpf3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01452:Dpf3	APN	12	83269489	missense	probably benign
IGL01719:Dpf3	APN	12	83294433	missense	probably damaging	0.99
IGL01950:Dpf3	APN	12	83324949	missense	probably benign	0.00
R0457:Dpf3	UTSW	12	83272405	missense	probably damaging	0.96
R1104:Dpf3	UTSW	12	83331987	missense	probably benign	0.30
R1565:Dpf3	UTSW	12	83370617	missense	probably damaging	0.98
R1969:Dpf3	UTSW	12	83325035	critical splice acceptor site	probably null
R1970:Dpf3	UTSW	12	83325035	critical splice acceptor site	probably null
R1971:Dpf3	UTSW	12	83325035	critical splice acceptor site	probably null
R2344:Dpf3	UTSW	12	83350820	missense	probably damaging	1.00
R4828:Dpf3	UTSW	12	83294499	missense	possibly damaging	0.89
R4936:Dpf3	UTSW	12	83331966	missense	probably damaging	1.00
R4970:Dpf3	UTSW	12	83370611	nonsense	probably null
R4993:Dpf3	UTSW	12	83331861	critical splice donor site	probably null
R5112:Dpf3	UTSW	12	83370611	nonsense	probably null
R5182:Dpf3	UTSW	12	83370596	missense	probably damaging	0.99
R5638:Dpf3	UTSW	12	83324940	missense	probably damaging	1.00
R5657:Dpf3	UTSW	12	83325011	missense	probably damaging	0.98
R7472:Dpf3	UTSW	12	83272385	missense	probably benign	0.37
R7481:Dpf3	UTSW	12	83331927	missense	probably damaging	1.00
R8350:Dpf3	UTSW	12	83350851	missense	probably damaging	1.00
R9340:Dpf3	UTSW	12	83487675	critical splice donor site	probably null
R9634:Dpf3	UTSW	12	83331861	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GGAAATGCCCAAGTTGTCTTTC -3'
(R):5'- GTGATGTACCCGGTTAGTCC -3'

Sequencing Primer
(F):5'- ACAATGACCAGAGTCAGG -3'
(R):5'- GGTCTAACACTGGCTTATTATCTTG -3'

Posted On

2015-11-11