Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01663:Dnph1'

103221

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dnph1

Ensembl Gene

ENSMUSG00000040658

Gene Name

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

Synonyms

BC048355, c-Myc-responsive, Rcl

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.269) question?

Stock #

IGL01663

Quality Score

Status

Chromosome

Chromosomal Location

46807715-46810544 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 46809408 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 74 (R74L)

Ref Sequence

ENSEMBL: ENSMUSP00000045283 (fasta)

Gene Model

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

AlphaFold

Q80VJ3

Predicted Effect

probably benign
Transcript: ENSMUST00000046497
AA Change: R74L

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

SMART Domains

Protein: ENSMUSP00000045283
Gene: ENSMUSG00000040658
AA Change: R74L

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

Coding Region Coverage

Validation Efficiency

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	A	G	11: 84,168,628 (GRCm39)	I1085V	possibly damaging	Het
Adamts16	T	C	13: 70,941,260 (GRCm39)	T376A	probably benign	Het
Aifm3	T	A	16: 17,320,650 (GRCm39)		probably null	Het
Ankrd16	A	G	2: 11,783,473 (GRCm39)	E25G	probably damaging	Het
Ano6	T	A	15: 95,865,495 (GRCm39)		probably null	Het
Cdh18	T	C	15: 23,446,077 (GRCm39)	I509T	possibly damaging	Het
Cdon	A	G	9: 35,394,510 (GRCm39)	T919A	possibly damaging	Het
Clca3a2	G	A	3: 144,522,916 (GRCm39)	P148L	probably damaging	Het
Epha6	C	T	16: 59,596,007 (GRCm39)	A895T	probably damaging	Het
Exoc3l4	T	A	12: 111,395,845 (GRCm39)		probably benign	Het
Fbll1	A	G	11: 35,688,648 (GRCm39)	I205T	probably damaging	Het
Frem2	T	A	3: 53,424,434 (GRCm39)	H3001L	probably damaging	Het
Galk2	A	G	2: 125,825,099 (GRCm39)	N432D	probably benign	Het
Gm7535	A	C	17: 18,131,619 (GRCm39)		probably benign	Het
Il10	A	G	1: 130,949,151 (GRCm39)	E104G	probably benign	Het
Il1a	T	C	2: 129,146,637 (GRCm39)	K152R	probably benign	Het
Kdm1b	T	A	13: 47,227,213 (GRCm39)	N568K	probably damaging	Het
Kmt2c	A	C	5: 25,515,668 (GRCm39)	L2725R	probably damaging	Het
Krba1	G	T	6: 48,388,688 (GRCm39)	L527F	probably damaging	Het
Lrp2	A	G	2: 69,259,050 (GRCm39)	S4547P	probably benign	Het
Nin	G	T	12: 70,090,439 (GRCm39)	A992E	possibly damaging	Het
Or11g7	G	A	14: 50,690,607 (GRCm39)	V33M	probably benign	Het
Or5p81	T	A	7: 108,267,098 (GRCm39)	H158Q	probably benign	Het
Pcdhb1	A	G	18: 37,400,186 (GRCm39)	I712M	possibly damaging	Het
Prmt2	C	T	10: 76,053,143 (GRCm39)		probably null	Het
Rbm20	T	G	19: 53,829,426 (GRCm39)	V608G	probably damaging	Het
Smarcc2	C	T	10: 128,324,846 (GRCm39)		probably benign	Het
Speer3	A	T	5: 13,843,236 (GRCm39)	R48*	probably null	Het
Tlr1	A	T	5: 65,082,416 (GRCm39)	N720K	possibly damaging	Het
Tnfrsf21	A	T	17: 43,398,702 (GRCm39)	M603L	probably benign	Het
Ttc3	T	A	16: 94,210,590 (GRCm39)		probably null	Het
Usp4	C	A	9: 108,243,079 (GRCm39)	A249E	possibly damaging	Het
Wdr20	T	A	12: 110,759,948 (GRCm39)	V278E	probably damaging	Het

Other mutations in Dnph1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02902:Dnph1	APN	17	46,809,427 (GRCm39)	unclassified	probably benign
R1906:Dnph1	UTSW	17	46,807,787 (GRCm39)	missense	probably damaging	0.99
R3701:Dnph1	UTSW	17	46,809,637 (GRCm39)	missense	possibly damaging	0.62
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

Posted On

2014-01-21