Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00736:Dpf1'

10300

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dpf1

Ensembl Gene

ENSMUSG00000030584

Gene Name

D4, zinc and double PHD fingers family 1

Synonyms

neuro-d4, Neud4

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00736

Quality Score

Status

Chromosome

Chromosomal Location

29303951-29318243 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 29312908 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 18 (K18*)

Gene Model

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

AlphaFold

Q9QX66

Predicted Effect

probably null
Transcript: ENSMUST00000049977
AA Change: K194*

SMART Domains

Protein: ENSMUSP00000054385
Gene: ENSMUSG00000030584
AA Change: K194*

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 null
Transcript: ENSMUST00000065181
AA Change: K193*

SMART Domains

Protein: ENSMUSP00000070539
Gene: ENSMUSG00000030584
AA Change: K193*

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 null
Transcript: ENSMUST00000108230
AA Change: K193*

SMART Domains

Protein: ENSMUSP00000103865
Gene: ENSMUSG00000030584
AA Change: K193*

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 null
Transcript: ENSMUST00000108231
AA Change: K194*

SMART Domains

Protein: ENSMUSP00000103866
Gene: ENSMUSG00000030584
AA Change: K194*

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

noncoding transcript
Transcript: ENSMUST00000126169

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128145

Predicted Effect

probably null
Transcript: ENSMUST00000137848
AA Change: K119*

SMART Domains

Protein: ENSMUSP00000120956
Gene: ENSMUSG00000030584
AA Change: K119*

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

noncoding transcript
Transcript: ENSMUST00000138993

Predicted Effect

probably null
Transcript: ENSMUST00000142958
AA Change: K18*

SMART Domains

Protein: ENSMUSP00000117186
Gene: ENSMUSG00000030584
AA Change: K18*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154222

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207245

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207677

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb1	A	G	10: 77,322,490	L41P	probably damaging	Het
Baz1b	A	G	5: 135,240,032	Y1245C	probably damaging	Het
Dnajb7	T	A	15: 81,407,573	I188F	probably benign	Het
Drosha	T	A	15: 12,833,959	Y50N	unknown	Het
Eif2s1	T	A	12: 78,884,837		probably benign	Het
Gde1	T	C	7: 118,698,702	E97G	probably damaging	Het
Lrrc8c	G	A	5: 105,607,114	V252M	probably damaging	Het
Megf10	G	A	18: 57,292,710	R1056Q	probably benign	Het
Myo3b	A	C	2: 70,105,645		probably benign	Het
Ralbp1	T	C	17: 65,864,723	Y85C	probably damaging	Het
Serpini2	C	T	3: 75,267,809	M58I	possibly damaging	Het
Skor1	C	A	9: 63,139,538	Q892H	probably damaging	Het
Slc22a26	T	C	19: 7,790,162	Q292R	possibly damaging	Het
Smc1b	T	C	15: 85,129,700	E90G	possibly damaging	Het
Zmym2	T	C	14: 56,903,211	V169A	probably benign	Het

Other mutations in Dpf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00478:Dpf1	APN	7	29316556	unclassified	probably benign
IGL01804:Dpf1	APN	7	29316501	missense	probably damaging	1.00
IGL01942:Dpf1	APN	7	29316502	missense	probably damaging	1.00
IGL01953:Dpf1	APN	7	29314307	missense	probably damaging	1.00
IGL03191:Dpf1	APN	7	29316561	unclassified	probably benign
R3622:Dpf1	UTSW	7	29316206	splice site	probably null
R3924:Dpf1	UTSW	7	29311673	missense	possibly damaging	0.76
R4234:Dpf1	UTSW	7	29315632	missense	probably damaging	1.00
R4606:Dpf1	UTSW	7	29316590	unclassified	probably benign
R5379:Dpf1	UTSW	7	29304108	missense	probably benign	0.02
R5434:Dpf1	UTSW	7	29311331	missense	possibly damaging	0.92
R6185:Dpf1	UTSW	7	29311271	missense	possibly damaging	0.92
R6672:Dpf1	UTSW	7	29316268	missense	probably damaging	1.00
R6816:Dpf1	UTSW	7	29311662	missense	possibly damaging	0.61
R7240:Dpf1	UTSW	7	29311627	missense	probably benign	0.01
R7699:Dpf1	UTSW	7	29311607	missense	possibly damaging	0.69
R7796:Dpf1	UTSW	7	29311681	missense	possibly damaging	0.69
R8071:Dpf1	UTSW	7	29314141	missense	probably benign	0.08
R8929:Dpf1	UTSW	7	29309749	missense	probably benign	0.39
R9619:Dpf1	UTSW	7	29313193	missense	probably benign	0.11
R9643:Dpf1	UTSW	7	29314317	missense	probably damaging	0.96
R9668:Dpf1	UTSW	7	29309659	nonsense	probably null

Posted On

2012-12-06