Mutagenetix > Incidental Mutation

Incidental Mutation 'R8929:Dpf1'

679740

Institutional Source

Beutler Lab

Gene Symbol

Dpf1

Ensembl Gene

ENSMUSG00000030584

Gene Name

double PHD fingers 1

Synonyms

neuro-d4, Neud4

MMRRC Submission

068773-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8929 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29003366-29017017 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 29009174 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 100 (I100F)

Ref Sequence

ENSEMBL: ENSMUSP00000054385 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049977] [ENSMUST00000065181] [ENSMUST00000108230] [ENSMUST00000108231]

AlphaFold

Q9QX66

Predicted Effect

probably benign
Transcript: ENSMUST00000049977
AA Change: I100F

PolyPhen 2 Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000054385
Gene: ENSMUSG00000030584
AA Change: I100F

Domain	Start	End	E-Value	Type
Pfam:Requiem_N	12	85	1.6e-39	PFAM
ZnF_C2H2	196	219	2.4e-3	SMART
PHD	274	327	8.98e-7	SMART
RING	275	326	1.06e1	SMART
PHD	328	374	2.6e-12	SMART
RING	329	373	8.53e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000065181
AA Change: I99F

PolyPhen 2 Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000070539
Gene: ENSMUSG00000030584
AA Change: I99F

Domain	Start	End	E-Value	Type
Pfam:Requiem_N	11	84	2e-39	PFAM
ZnF_C2H2	195	218	2.4e-3	SMART
PHD	273	326	8.98e-7	SMART
RING	274	325	1.06e1	SMART
PHD	327	373	2.6e-12	SMART
RING	328	372	8.53e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108230
AA Change: I99F

PolyPhen 2 Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000103865
Gene: ENSMUSG00000030584
AA Change: I99F

Domain	Start	End	E-Value	Type
Pfam:Requiem_N	11	84	9.7e-40	PFAM
PHD	229	282	8.98e-7	SMART
RING	230	281	1.06e1	SMART
PHD	283	339	6.85e-12	SMART
RING	284	338	9.5e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108231
AA Change: I100F

PolyPhen 2 Score 0.400 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000103866
Gene: ENSMUSG00000030584
AA Change: I100F

Domain	Start	End	E-Value	Type
Pfam:Requiem_N	13	84	1.2e-39	PFAM
ZnF_C2H2	196	219	2.4e-3	SMART
PHD	274	327	8.98e-7	SMART
RING	275	326	1.06e1	SMART
PHD	328	384	6.85e-12	SMART
RING	329	383	9.5e-1	SMART

Predicted Effect

SMART Domains

Protein: ENSMUSP00000120956
Gene: ENSMUSG00000030584
AA Change: I55F

Domain	Start	End	E-Value	Type
Pfam:Requiem_N	1	40	8.9e-20	PFAM
ZnF_C2H2	122	143	5.34e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000142958

SMART Domains

Protein: ENSMUSP00000117186
Gene: ENSMUSG00000030584

Domain	Start	End	E-Value	Type
ZnF_C2H2	21	44	2.4e-3	SMART
PHD	82	135	8.98e-7	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (61/61)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adrm1	A	G	2: 179,814,730 (GRCm39)	K99E	unknown	Het
Agxt2	C	A	15: 10,393,830 (GRCm39)	L375I	probably benign	Het
Akap13	T	C	7: 75,258,752 (GRCm39)	S459P	probably benign	Het
Arfgef3	T	A	10: 18,479,203 (GRCm39)	T1471S	probably damaging	Het
Atxn2l	C	G	7: 126,092,928 (GRCm39)		probably benign	Het
Azi2	C	A	9: 117,879,044 (GRCm39)	T141K	probably damaging	Het
B4galt6	A	G	18: 20,821,422 (GRCm39)	S369P	possibly damaging	Het
BC051019	C	T	7: 109,315,233 (GRCm39)	E341K	probably damaging	Het
Bdh1	G	A	16: 31,275,712 (GRCm39)	D278N	probably benign	Het
Cdh1	ACTCGAAATGATGTGGCTC	ACTC	8: 107,392,870 (GRCm39)		probably benign	Het
Cdipt	T	G	7: 126,578,825 (GRCm39)	D205E	probably damaging	Het
Clec4b1	G	T	6: 123,046,728 (GRCm39)		probably null	Het
Clip4	T	C	17: 72,138,203 (GRCm39)	L467S	probably damaging	Het
Cndp2	A	G	18: 84,693,298 (GRCm39)	I154T	probably benign	Het
Cyp2j5	T	C	4: 96,546,977 (GRCm39)	N179S	possibly damaging	Het
Dppa5a	A	G	9: 78,275,165 (GRCm39)	S46P	probably benign	Het
Epyc	A	G	10: 97,511,607 (GRCm39)	D200G	probably benign	Het
Ern2	C	T	7: 121,769,363 (GRCm39)	A888T	probably benign	Het
Fndc3b	C	T	3: 27,596,253 (GRCm39)	S112N	probably damaging	Het
Fras1	T	C	5: 96,917,366 (GRCm39)	V3462A	probably damaging	Het
Fstl5	T	C	3: 76,615,138 (GRCm39)	I733T	probably damaging	Het
Gdf3	C	T	6: 122,586,756 (GRCm39)	R57Q		Het
Grwd1	A	T	7: 45,480,056 (GRCm39)	D50E	probably damaging	Het
Hgf	G	T	5: 16,798,988 (GRCm39)	D339Y	probably benign	Het
Kat7	T	C	11: 95,196,982 (GRCm39)	D19G	probably damaging	Het
Lefty1	A	G	1: 180,765,290 (GRCm39)	E286G	probably damaging	Het
Lrriq3	T	C	3: 154,893,819 (GRCm39)	F507L	probably damaging	Het
Mcm4	T	A	16: 15,448,289 (GRCm39)	T423S	probably benign	Het
Metap1	T	C	3: 138,174,643 (GRCm39)	K247E	probably benign	Het
Muc4	A	T	16: 32,754,017 (GRCm38)	T1298S	possibly damaging	Het
Muc4	T	G	16: 32,575,285 (GRCm39)	I1290S	probably benign	Het
Nars1	G	T	18: 64,644,895 (GRCm39)	H82Q	probably benign	Het
Ncapg2	A	T	12: 116,415,983 (GRCm39)	E1121V	probably damaging	Het
Nebl	C	A	2: 17,397,991 (GRCm39)	E481*	probably null	Het
Pdap1	T	C	5: 145,069,672 (GRCm39)	E111G	probably damaging	Het
Pds5b	T	C	5: 150,643,379 (GRCm39)	F67S	probably damaging	Het
Pole	T	C	5: 110,445,654 (GRCm39)	F510S	probably damaging	Het
Ptpn21	A	T	12: 98,655,396 (GRCm39)	Y524N	probably damaging	Het
Ptpn4	A	T	1: 119,595,278 (GRCm39)	M887K	probably damaging	Het
Sec24b	T	C	3: 129,803,507 (GRCm39)	D414G	possibly damaging	Het
Sema5b	C	A	16: 35,467,737 (GRCm39)		probably benign	Het
Slain1	A	T	14: 103,923,164 (GRCm39)	T252S	probably damaging	Het
Slc36a3	A	G	11: 55,028,137 (GRCm39)	F164S	probably damaging	Het
Slc39a7	T	C	17: 34,249,964 (GRCm39)	H90R	unknown	Het
Slc44a4	A	T	17: 35,136,508 (GRCm39)	D58V	probably damaging	Het
Slc5a4a	A	G	10: 76,006,617 (GRCm39)	T340A	probably benign	Het
Sod2	C	A	17: 13,233,974 (GRCm39)	N195K	probably damaging	Het
Spart	T	C	3: 55,035,979 (GRCm39)	S572P	possibly damaging	Het
Sytl2	C	T	7: 90,024,810 (GRCm39)	A266V	probably benign	Het
Tbx15	T	A	3: 99,222,219 (GRCm39)	D227E	probably damaging	Het
Tfap2a	A	G	13: 40,882,308 (GRCm39)	V26A	probably benign	Het
Trank1	T	A	9: 111,208,003 (GRCm39)	F1749L	possibly damaging	Het
Trpc6	A	G	9: 8,643,411 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,706,924 (GRCm39)	I9089N	unknown	Het
Tut7	A	G	13: 59,947,942 (GRCm39)	V793A	probably benign	Het
Unc13a	T	C	8: 72,103,835 (GRCm39)	T866A	probably benign	Het
Vmn1r212	T	A	13: 23,067,494 (GRCm39)	S280C	possibly damaging	Het
Vmn2r82	A	G	10: 79,232,541 (GRCm39)	T847A	probably benign	Het
Zer1	A	G	2: 30,000,881 (GRCm39)	L180P	probably damaging	Het
Zfp445	T	G	9: 122,682,732 (GRCm39)	Y403S	probably benign	Het

Other mutations in Dpf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00478:Dpf1	APN	7	29,015,981 (GRCm39)	unclassified	probably benign
IGL00736:Dpf1	APN	7	29,012,333 (GRCm39)	nonsense	probably null
IGL01804:Dpf1	APN	7	29,015,926 (GRCm39)	missense	probably damaging	1.00
IGL01942:Dpf1	APN	7	29,015,927 (GRCm39)	missense	probably damaging	1.00
IGL01953:Dpf1	APN	7	29,013,732 (GRCm39)	missense	probably damaging	1.00
IGL03191:Dpf1	APN	7	29,015,986 (GRCm39)	unclassified	probably benign
R3622:Dpf1	UTSW	7	29,015,631 (GRCm39)	splice site	probably null
R3924:Dpf1	UTSW	7	29,011,098 (GRCm39)	missense	possibly damaging	0.76
R4234:Dpf1	UTSW	7	29,015,057 (GRCm39)	missense	probably damaging	1.00
R4606:Dpf1	UTSW	7	29,016,015 (GRCm39)	unclassified	probably benign
R5379:Dpf1	UTSW	7	29,003,533 (GRCm39)	missense	probably benign	0.02
R5434:Dpf1	UTSW	7	29,010,756 (GRCm39)	missense	possibly damaging	0.92
R6185:Dpf1	UTSW	7	29,010,696 (GRCm39)	missense	possibly damaging	0.92
R6672:Dpf1	UTSW	7	29,015,693 (GRCm39)	missense	probably damaging	1.00
R6816:Dpf1	UTSW	7	29,011,087 (GRCm39)	missense	possibly damaging	0.61
R7240:Dpf1	UTSW	7	29,011,052 (GRCm39)	missense	probably benign	0.01
R7699:Dpf1	UTSW	7	29,011,032 (GRCm39)	missense	possibly damaging	0.69
R7796:Dpf1	UTSW	7	29,011,106 (GRCm39)	missense	possibly damaging	0.69
R8071:Dpf1	UTSW	7	29,013,566 (GRCm39)	missense	probably benign	0.08
R9619:Dpf1	UTSW	7	29,012,618 (GRCm39)	missense	probably benign	0.11
R9643:Dpf1	UTSW	7	29,013,742 (GRCm39)	missense	probably damaging	0.96
R9668:Dpf1	UTSW	7	29,009,084 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGGCCCAGAACAACTGCTAC -3'
(R):5'- GTACAGCTGGCAACTCAGTCAC -3'

Sequencing Primer
(F):5'- ACAACTGCTACATCTGGATGG -3'
(R):5'- GCTGGCAACTCAGTCACTCAAAG -3'

Posted On

2021-08-02