Mutagenetix > Incidental Mutation

Incidental Mutation 'R3701:Dnph1'

258543

Institutional Source

Beutler Lab

Gene Symbol

Dnph1

Ensembl Gene

ENSMUSG00000040658

Gene Name

2'-deoxynucleoside 5'-phosphate N-hydrolase 1

Synonyms

BC048355, c-Myc-responsive, Rcl

MMRRC Submission

040694-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.216) question?

Stock #

R3701 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

46807715-46810544 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 46809637 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 101 (G101S)

Ref Sequence

ENSEMBL: ENSMUSP00000045283 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046497] [ENSMUST00000066026] [ENSMUST00000182485]

AlphaFold

Q80VJ3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000046497
AA Change: G101S

PolyPhen 2 Score 0.623 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000045283
Gene: ENSMUSG00000040658
AA Change: G101S

Domain	Start	End	E-Value	Type
Pfam:Nuc_deoxyrib_tr	12	144	3.8e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000066026

SMART Domains

Protein: ENSMUSP00000067736
Gene: ENSMUSG00000040327

Domain	Start	End	E-Value	Type
low complexity region	46	61	N/A	INTRINSIC
low complexity region	119	131	N/A	INTRINSIC
low complexity region	345	357	N/A	INTRINSIC
Pfam:Cul7	367	441	1e-35	PFAM
low complexity region	447	460	N/A	INTRINSIC
low complexity region	525	540	N/A	INTRINSIC
low complexity region	845	860	N/A	INTRINSIC
low complexity region	873	880	N/A	INTRINSIC
APC10	1166	1325	1.97e-56	SMART
low complexity region	1437	1450	N/A	INTRINSIC
low complexity region	1563	1578	N/A	INTRINSIC
low complexity region	1646	1671	N/A	INTRINSIC
Cullin_Nedd8	1867	1950	7.55e-6	SMART
Blast:RING	2074	2122	2e-13	BLAST
IBR	2144	2207	8.99e-14	SMART
IBR	2228	2283	4.66e-2	SMART
low complexity region	2503	2520	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181301

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182315

Predicted Effect

probably benign
Transcript: ENSMUST00000182485

SMART Domains

Protein: ENSMUSP00000138418
Gene: ENSMUSG00000040327

Domain	Start	End	E-Value	Type
low complexity region	46	61	N/A	INTRINSIC
low complexity region	119	131	N/A	INTRINSIC
low complexity region	345	357	N/A	INTRINSIC
Pfam:Cul7	367	442	1.4e-33	PFAM
low complexity region	447	460	N/A	INTRINSIC
low complexity region	525	540	N/A	INTRINSIC
low complexity region	845	860	N/A	INTRINSIC
low complexity region	873	880	N/A	INTRINSIC
APC10	1166	1325	1.97e-56	SMART
low complexity region	1437	1450	N/A	INTRINSIC
low complexity region	1563	1578	N/A	INTRINSIC
low complexity region	1646	1671	N/A	INTRINSIC
Cullin_Nedd8	1867	1950	7.55e-6	SMART
Blast:RING	2074	2122	3e-13	BLAST
IBR	2144	2207	8.99e-14	SMART
IBR	2228	2283	4.66e-2	SMART
coiled coil region	2461	2497	N/A	INTRINSIC
low complexity region	2513	2530	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182530

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183078

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183312

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

97% (37/38)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was identified on the basis of its stimulation by c-Myc protein. The latter is a transcription factor that participates in the regulation of cell proliferation, differentiation, and apoptosis. The exact function of this gene is not known but studies in rat suggest a role in cellular proliferation and c-Myc-mediated transformation. Two alternative transcripts encoding different proteins have been described. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb1	A	C	15: 74,416,864 (GRCm39)	K757T	probably damaging	Het
Akr1c19	C	T	13: 4,293,032 (GRCm39)	R263C	probably damaging	Het
Asxl1	A	G	2: 153,241,264 (GRCm39)	T605A	probably benign	Het
Cacna1i	A	T	15: 80,265,272 (GRCm39)		probably benign	Het
Clip4	A	G	17: 72,106,003 (GRCm39)	D62G	probably damaging	Het
Cstf1	A	G	2: 172,222,312 (GRCm39)	T357A	probably benign	Het
Cul5	T	C	9: 53,540,516 (GRCm39)	K499E	probably damaging	Het
Cyld	T	A	8: 89,456,179 (GRCm39)	S407T	probably benign	Het
Entrep1	T	C	19: 23,956,831 (GRCm39)	E354G	probably benign	Het
Esp38	A	T	17: 40,266,112 (GRCm39)	R74*	probably null	Het
Fdxr	A	T	11: 115,160,527 (GRCm39)	L336Q	probably damaging	Het
Hivep1	T	C	13: 42,311,203 (GRCm39)	S1148P	probably benign	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Itgb1bp2	T	C	X: 100,495,293 (GRCm39)		probably benign	Het
Kcnj5	T	C	9: 32,229,124 (GRCm39)	T25A	possibly damaging	Het
Lyn	A	G	4: 3,742,455 (GRCm39)	H28R	probably benign	Het
Nbeal1	C	T	1: 60,290,572 (GRCm39)		probably benign	Het
Nmur2	A	G	11: 55,931,603 (GRCm39)	L36P	probably damaging	Het
Or14j3	G	A	17: 37,900,717 (GRCm39)	Q176*	probably null	Het
Or6c5c	A	T	10: 129,298,821 (GRCm39)	Y92F	probably damaging	Het
Or9i14	T	G	19: 13,792,712 (GRCm39)	I81L	probably benign	Het
Pdgfra	T	A	5: 75,340,881 (GRCm39)	Y613*	probably null	Het
Phka2	T	C	X: 159,316,045 (GRCm39)	V230A	possibly damaging	Het
Pkd2l1	A	G	19: 44,145,666 (GRCm39)	S186P	probably damaging	Het
Skic3	T	C	13: 76,261,798 (GRCm39)	I171T	probably benign	Het
Snx14	T	C	9: 88,302,296 (GRCm39)		probably benign	Het
Tex15	T	C	8: 34,064,194 (GRCm39)	V1208A	probably benign	Het
Tmf1	A	G	6: 97,149,292 (GRCm39)	F485S	possibly damaging	Het
Tnfsf4	G	A	1: 161,244,778 (GRCm39)	V156I	possibly damaging	Het
Trdn	C	A	10: 33,210,980 (GRCm39)	Q391K	probably damaging	Het
Ttc34	T	C	4: 154,949,939 (GRCm39)	F964S	probably damaging	Het
Vmn2r104	A	G	17: 20,249,818 (GRCm39)	S818P	probably damaging	Het
Zbed5	G	A	5: 129,932,000 (GRCm39)	D650N	possibly damaging	Het
Zfp446	G	A	7: 12,712,079 (GRCm39)		probably benign	Het
Zfp592	C	T	7: 80,687,159 (GRCm39)	R821*	probably null	Het
Zfp647	G	A	15: 76,795,110 (GRCm39)	R517W	probably damaging	Het
Zfp983	G	C	17: 21,880,455 (GRCm39)	E128Q	probably damaging	Het

Other mutations in Dnph1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01663:Dnph1	APN	17	46,809,408 (GRCm39)	missense	probably benign	0.01
IGL02902:Dnph1	APN	17	46,809,427 (GRCm39)	unclassified	probably benign
R1906:Dnph1	UTSW	17	46,807,787 (GRCm39)	missense	probably damaging	0.99
R6805:Dnph1	UTSW	17	46,809,670 (GRCm39)	missense	probably damaging	1.00
R7073:Dnph1	UTSW	17	46,807,815 (GRCm39)	missense	probably damaging	1.00
R7288:Dnph1	UTSW	17	46,809,938 (GRCm39)	missense	probably benign
R8153:Dnph1	UTSW	17	46,809,965 (GRCm39)	missense	probably benign	0.00
R9163:Dnph1	UTSW	17	46,809,860 (GRCm39)	missense	probably damaging	1.00
R9673:Dnph1	UTSW	17	46,809,901 (GRCm39)	missense	possibly damaging	0.56

Predicted Primers

PCR Primer
(F):5'- TGTCGATTCCTGGGCTATCC -3'
(R):5'- GGAGCATGGTCTCCACTTCTTC -3'

Sequencing Primer
(F):5'- GGCTATCCCTGACTCTACTATCC -3'
(R):5'- TGCGTAGTCCCACACCTG -3'

Posted On

2015-01-23