Mutagenetix > Incidental Mutation

Incidental Mutation 'R7240:Dpf1'

563142

Institutional Source

Beutler Lab

Gene Symbol

Dpf1

Ensembl Gene

ENSMUSG00000030584

Gene Name

D4, zinc and double PHD fingers family 1

Synonyms

neuro-d4, Neud4

MMRRC Submission

045347-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7240 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29303951-29318243 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 29311627 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 150 (F150L)

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: F150L

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000054385
Gene: ENSMUSG00000030584
AA Change: F150L

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: F149L

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000070539
Gene: ENSMUSG00000030584
AA Change: F149L

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: F149L

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000103865
Gene: ENSMUSG00000030584
AA Change: F149L

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: F150L

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000103866
Gene: ENSMUSG00000030584
AA Change: F150L

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

probably benign
Transcript: ENSMUST00000137848

SMART Domains

Protein: ENSMUSP00000120956
Gene: ENSMUSG00000030584

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: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

96% (50/52)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210017I01Rik	A	G	3: 92,605,075	I59T	unknown	Het
Aspm	C	T	1: 139,478,651	Q1759*	probably null	Het
Atn1	A	T	6: 124,747,898	I124K	unknown	Het
Catsper2	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	2: 121,397,572		probably benign	Het
Ccdc88c	C	T	12: 100,944,939	V879M	probably benign	Het
Cd300c	A	G	11: 114,959,783	C65R	possibly damaging	Het
Cd69	A	T	6: 129,270,042	S112T	possibly damaging	Het
Cdh19	T	C	1: 110,893,407	T534A	probably benign	Het
Cdk5rap2	T	A	4: 70,291,908	D701V	probably damaging	Het
D130052B06Rik	A	G	11: 33,623,874	H157R	possibly damaging	Het
Dsg1c	T	C	18: 20,283,109	L689P	probably damaging	Het
Dstyk	G	A	1: 132,454,123	M538I	probably benign	Het
E4f1	T	A	17: 24,444,325	I669F	probably damaging	Het
Gm7138	T	C	10: 77,776,755	T64A	unknown	Het
Gnai2	A	C	9: 107,615,773	D310E		Het
Iqca	A	G	1: 90,070,550	V567A	possibly damaging	Het
Iqgap1	A	T	7: 80,759,839	N249K	probably benign	Het
Lamc1	A	G	1: 153,234,650	V1093A	possibly damaging	Het
Mfap3	A	G	11: 57,529,756	K188E	probably damaging	Het
N4bp2	T	A	5: 65,794,545	V431D	probably damaging	Het
Notch4	A	G	17: 34,576,471	T792A	probably benign	Het
Ntn4	A	G	10: 93,745,741	H592R	probably damaging	Het
Ofcc1	A	G	13: 40,208,841	C202R	probably benign	Het
Olfr13	A	G	6: 43,174,501	K172E	probably benign	Het
Olfr418	T	C	1: 173,270,994	I273T	probably benign	Het
Olfr476	T	C	7: 107,968,188	S264P	probably benign	Het
Olfr497	A	G	7: 108,422,933	M121V	probably damaging	Het
Olfr922	A	G	9: 38,815,713	D70G	probably benign	Het
Olfr938	A	T	9: 39,078,610	M45K	probably damaging	Het
Parpbp	G	A	10: 88,124,940	T228I	probably damaging	Het
Pcdhgb8	G	A	18: 37,763,703	V609M	probably damaging	Het
Pla2g4d	T	C	2: 120,270,349	N543S	probably damaging	Het
Puf60	A	G	15: 76,072,539		probably benign	Het
Rbm6	A	T	9: 107,852,896	D184E	probably damaging	Het
Rnase9	A	C	14: 51,038,979	S181A	probably benign	Het
Rnpc3	T	A	3: 113,616,831	R270S	probably damaging	Het
Rundc1	T	C	11: 101,431,548		probably null	Het
Ryr1	T	C	7: 29,052,015	S3715G	possibly damaging	Het
Scn3a	A	T	2: 65,469,042	D1373E	possibly damaging	Het
Serpina3k	T	G	12: 104,340,602	I31S	probably benign	Het
Sipa1l2	A	G	8: 125,469,860	F712L	probably damaging	Het
Slc22a29	A	G	19: 8,161,511	V529A	probably damaging	Het
Tdrd3	A	G	14: 87,458,803	N58S	probably benign	Het
Tmc2	C	T	2: 130,234,804	T350I	possibly damaging	Het
Tpst2	T	C	5: 112,307,678	C28R	probably benign	Het
Trbv21	A	T	6: 41,202,958	K69N	probably benign	Het
Trpm2	A	G	10: 77,935,876		probably null	Het
Ttn	A	G	2: 76,848,990	V10796A	unknown	Het
Ush2a	A	G	1: 188,911,661	T4407A	possibly damaging	Het
Vmn2r95	A	G	17: 18,451,963	H726R	probably benign	Het
Zfp777	A	G	6: 48,044,449	S80P	probably benign	Het

Other mutations in Dpf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00478:Dpf1	APN	7	29316556	unclassified	probably benign
IGL00736:Dpf1	APN	7	29312908	nonsense	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- TGCCTTCCTGCTCTGAGATG -3'
(R):5'- ACAGTTCTGATCCACAAGCTCC -3'

Sequencing Primer
(F):5'- TGCTCTGAGATGCCCGG -3'
(R):5'- GATCCACAAGCTCCATTTTCG -3'

Posted On

2019-06-26