Mutagenetix > Incidental Mutation

Incidental Mutation 'R6185:Dpf1'

502102

Institutional Source

Beutler Lab

Gene Symbol

Dpf1

Ensembl Gene

ENSMUSG00000030584

Gene Name

double PHD fingers 1

Synonyms

neuro-d4, Neud4

MMRRC Submission

044325-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6185 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29003366-29017017 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29010696 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 103 (E103G)

Ref Sequence

ENSEMBL: ENSMUSP00000103866 (fasta)

Gene Model

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

AlphaFold

Q9QX66

Predicted Effect

possibly damaging
Transcript: ENSMUST00000049977
AA Change: E103G

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000054385
Gene: ENSMUSG00000030584
AA Change: E103G

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

possibly damaging
Transcript: ENSMUST00000065181
AA Change: E102G

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

SMART Domains

Protein: ENSMUSP00000070539
Gene: ENSMUSG00000030584
AA Change: E102G

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

possibly damaging
Transcript: ENSMUST00000108230
AA Change: E102G

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

SMART Domains

Protein: ENSMUSP00000103865
Gene: ENSMUSG00000030584
AA Change: E102G

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

possibly damaging
Transcript: ENSMUST00000108231
AA Change: E103G

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103866
Gene: ENSMUSG00000030584
AA Change: E103G

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

unknown
Transcript: ENSMUST00000137848
AA Change: E58G

SMART Domains

Protein: ENSMUSP00000120956
Gene: ENSMUSG00000030584
AA Change: E58G

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

noncoding transcript
Transcript: ENSMUST00000154222

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207677

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

96% (80/83)

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	T	4: 53,078,089 (GRCm39)	H894Q	probably benign	Het
Abca4	A	T	3: 121,919,789 (GRCm39)	I1024F	probably damaging	Het
Acadl	A	G	1: 66,877,522 (GRCm39)	V343A	possibly damaging	Het
Akr1e1	T	A	13: 4,651,252 (GRCm39)	I123L	probably benign	Het
Angptl2	T	C	2: 33,119,026 (GRCm39)	S267P	probably benign	Het
Ap2a1	T	G	7: 44,565,594 (GRCm39)	K91T	probably damaging	Het
Bend7	A	T	2: 4,793,333 (GRCm39)	Q379L	probably damaging	Het
Bicdl1	C	T	5: 115,808,212 (GRCm39)		probably null	Het
Cachd1	C	A	4: 100,838,228 (GRCm39)	Y830*	probably null	Het
Ccdc158	T	A	5: 92,814,713 (GRCm39)	I38F	possibly damaging	Het
Cep97	T	A	16: 55,735,455 (GRCm39)	M448L	probably benign	Het
Chd9	A	G	8: 91,775,765 (GRCm39)	D2572G	probably damaging	Het
Clcnkb	C	T	4: 141,141,825 (GRCm39)	V54M	probably benign	Het
Cln8	A	G	8: 14,946,544 (GRCm39)	D186G	probably benign	Het
Crxos	C	T	7: 15,636,805 (GRCm39)	S22L	possibly damaging	Het
Cx3cr1	A	T	9: 119,880,444 (GRCm39)	H319Q	probably benign	Het
Cyp2j6	G	C	4: 96,424,323 (GRCm39)	L145V	probably damaging	Het
Dmrta1	A	G	4: 89,580,005 (GRCm39)	R322G	probably damaging	Het
Dsg1b	T	G	18: 20,532,543 (GRCm39)	V529G	probably benign	Het
Dst	G	A	1: 34,212,161 (GRCm39)	V1361I	probably damaging	Het
Epha4	T	C	1: 77,483,743 (GRCm39)	I89V	probably damaging	Het
Etfdh	G	T	3: 79,513,114 (GRCm39)	H370N	probably benign	Het
Fam186a	A	G	15: 99,845,530 (GRCm39)	I238T	unknown	Het
Fbxl5	T	A	5: 43,978,894 (GRCm39)	S19C	probably benign	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Fryl	A	G	5: 73,270,131 (GRCm39)	V367A	probably benign	Het
Gm19410	T	A	8: 36,274,664 (GRCm39)	L1495H	possibly damaging	Het
Gm19965	A	G	1: 116,749,003 (GRCm39)	E228G	possibly damaging	Het
Gpr89	C	A	3: 96,798,149 (GRCm39)	C169F	probably damaging	Het
Hmcn1	A	T	1: 150,491,189 (GRCm39)		probably null	Het
Hsph1	A	T	5: 149,541,160 (GRCm39)	C753S	probably damaging	Het
Igf2	T	A	7: 142,212,118 (GRCm39)	S4C	possibly damaging	Het
Kansl3	A	T	1: 36,385,099 (GRCm39)	S486T	probably damaging	Het
Khdrbs1	G	C	4: 129,636,068 (GRCm39)		probably benign	Het
Lnx1	A	T	5: 74,846,269 (GRCm39)	C60*	probably null	Het
Lrpprc	T	C	17: 85,074,452 (GRCm39)	D485G	probably benign	Het
Ly6i	A	T	15: 74,851,879 (GRCm39)	S97T	possibly damaging	Het
Me2	G	A	18: 73,924,199 (GRCm39)	Q338*	probably null	Het
Med16	A	T	10: 79,732,197 (GRCm39)	L790Q	probably damaging	Het
Muc16	G	T	9: 18,565,769 (GRCm39)	T2250K	unknown	Het
Myo10	T	G	15: 25,726,596 (GRCm39)	F273C	probably damaging	Het
Neil3	T	A	8: 54,052,182 (GRCm39)	H472L	probably benign	Het
Nrxn1	T	A	17: 90,344,564 (GRCm39)	S57C	probably damaging	Het
Nup188	A	T	2: 30,231,722 (GRCm39)	T1439S	probably damaging	Het
Or10g3	T	C	14: 52,610,019 (GRCm39)	T164A	possibly damaging	Het
Or10g7	T	C	9: 39,905,420 (GRCm39)	F105L	probably benign	Het
Or5w10	A	G	2: 87,375,087 (GRCm39)	M267T	possibly damaging	Het
Otud7a	T	A	7: 63,408,133 (GRCm39)	L812Q	probably damaging	Het
Paip2b	C	T	6: 83,786,952 (GRCm39)	A95T	probably benign	Het
Pax4	C	T	6: 28,446,347 (GRCm39)	V49I	probably damaging	Het
Plek	C	T	11: 16,931,829 (GRCm39)	A341T	probably damaging	Het
Prkag1	G	A	15: 98,723,595 (GRCm39)	P10L	probably benign	Het
R3hdm1	A	C	1: 128,079,598 (GRCm39)	D15A	possibly damaging	Het
Rad54b	A	T	4: 11,593,804 (GRCm39)	D144V	possibly damaging	Het
Rmi2	C	T	16: 10,704,073 (GRCm39)	T138I	probably benign	Het
Sbf1	A	G	15: 89,189,814 (GRCm39)	L379P	probably damaging	Het
Sec14l3	A	T	11: 4,025,244 (GRCm39)	I285F	probably damaging	Het
Sec31b	A	T	19: 44,531,723 (GRCm39)	I62N	possibly damaging	Het
Selp	A	G	1: 163,953,915 (GRCm39)	N72D	probably damaging	Het
Sipa1l1	T	A	12: 82,471,802 (GRCm39)	S1261T	probably damaging	Het
Sipa1l2	A	T	8: 126,194,992 (GRCm39)	Y915*	probably null	Het
Slc22a27	A	T	19: 7,903,953 (GRCm39)	D61E	probably benign	Het
Slc2a7	A	G	4: 150,233,450 (GRCm39)	T8A	probably benign	Het
Slc5a2	T	C	7: 127,870,349 (GRCm39)	I529T	probably damaging	Het
Spart	A	C	3: 55,024,640 (GRCm39)	Q78H	probably damaging	Het
Spocd1	T	C	4: 129,850,242 (GRCm39)	I756T	probably benign	Het
Stc1	G	A	14: 69,275,813 (GRCm39)	C202Y	probably damaging	Het
Stk10	A	G	11: 32,527,749 (GRCm39)	T166A	probably benign	Het
Syt6	A	T	3: 103,492,844 (GRCm39)	D32V	probably damaging	Het
Tanc1	T	A	2: 59,621,929 (GRCm39)		probably null	Het
Tanc2	T	A	11: 105,803,865 (GRCm39)	N297K	probably damaging	Het
Telo2	A	G	17: 25,321,014 (GRCm39)	S734P	probably benign	Het
Tfrc	T	A	16: 32,437,090 (GRCm39)	Y250N	probably benign	Het
Tmem97	C	T	11: 78,434,388 (GRCm39)	W65*	probably null	Het
Ubr3	T	C	2: 69,768,621 (GRCm39)	M476T	probably damaging	Het
Ubtf	T	C	11: 102,204,849 (GRCm39)	T117A	probably damaging	Het
Usp17lb	T	A	7: 104,490,631 (GRCm39)	M99L	probably benign	Het
Uvrag	A	C	7: 98,790,039 (GRCm39)		probably null	Het
Vmn2r63	A	G	7: 42,578,435 (GRCm39)	S153P	probably damaging	Het
Vmn2r90	A	T	17: 17,953,644 (GRCm39)	T603S	probably damaging	Het
Vps8	C	A	16: 21,288,891 (GRCm39)	L417I	probably damaging	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
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
R8929:Dpf1	UTSW	7	29,009,174 (GRCm39)	missense	probably benign	0.39
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'- AGGGCTTGAGTCGAATCCTTC -3'
(R):5'- CCCTTCTACAAGCAGAGGTG -3'

Sequencing Primer
(F):5'- GAGTCGAATCCTTCTGTCCATTG -3'
(R):5'- ATCGGGGCCATAGGGTAC -3'

Posted On

2018-02-27