Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02625:Nudt17'

301024

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nudt17

Ensembl Gene

ENSMUSG00000028100

Gene Name

nudix hydrolase 17

Synonyms

nudix (nucleoside diphosphate linked moiety X)-type motif 17, 2410015C20Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.191) question?

Stock #

IGL02625

Quality Score

Status

Chromosome

Chromosomal Location

96613383-96615878 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 96613780 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 266 (R266W)

Ref Sequence

ENSEMBL: ENSMUSP00000129851 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029742] [ENSMUST00000064900] [ENSMUST00000107076] [ENSMUST00000107077] [ENSMUST00000171249] [ENSMUST00000200387] [ENSMUST00000176302] [ENSMUST00000162934]

AlphaFold

Q9CWD3

Predicted Effect

probably damaging
Transcript: ENSMUST00000029742
AA Change: R283W

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000029742
Gene: ENSMUSG00000028100
AA Change: R283W

Domain	Start	End	E-Value	Type
low complexity region	2	14	N/A	INTRINSIC
Pfam:NUDIX	92	252	2.2e-9	PFAM
low complexity region	273	288	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000064900

SMART Domains

Protein: ENSMUSP00000069259
Gene: ENSMUSG00000028101

Domain	Start	End	E-Value	Type
SAP	11	45	3.75e-5	SMART
low complexity region	70	109	N/A	INTRINSIC
Pfam:PINIT	126	278	1.1e-38	PFAM
Pfam:zf-MIZ	323	372	1.7e-22	PFAM
low complexity region	608	617	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107076

SMART Domains

Protein: ENSMUSP00000102691
Gene: ENSMUSG00000028101

Domain	Start	End	E-Value	Type
SAP	2	36	3.75e-5	SMART
low complexity region	61	100	N/A	INTRINSIC
Pfam:PINIT	113	269	1.1e-45	PFAM
Pfam:zf-Nse	305	361	8e-7	PFAM
Pfam:zf-MIZ	314	363	2.2e-21	PFAM
low complexity region	599	608	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107077

SMART Domains

Protein: ENSMUSP00000102692
Gene: ENSMUSG00000028101

Domain	Start	End	E-Value	Type
SAP	11	45	3.75e-5	SMART
Pfam:PINIT	87	243	5.3e-46	PFAM
Pfam:zf-Nse	279	335	2.4e-7	PFAM
Pfam:zf-MIZ	288	337	7.4e-22	PFAM
low complexity region	573	582	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161296

Predicted Effect

probably benign
Transcript: ENSMUST00000162156

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162707

Predicted Effect

probably damaging
Transcript: ENSMUST00000171249
AA Change: R266W

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000129851
Gene: ENSMUSG00000028100
AA Change: R266W

Domain	Start	End	E-Value	Type
low complexity region	2	14	N/A	INTRINSIC
Pfam:NUDIX	92	235	1.2e-18	PFAM
low complexity region	256	271	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196773

Predicted Effect

probably benign
Transcript: ENSMUST00000200387

SMART Domains

Protein: ENSMUSP00000142879
Gene: ENSMUSG00000028100

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
Pfam:NUDIX	79	125	4.2e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176302

SMART Domains

Protein: ENSMUSP00000134835
Gene: ENSMUSG00000028101

Domain	Start	End	E-Value	Type
SAP	2	36	2.57e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000162934

SMART Domains

Protein: ENSMUSP00000125747
Gene: ENSMUSG00000028101

Domain	Start	End	E-Value	Type
SAP	2	36	3.75e-5	SMART
low complexity region	61	100	N/A	INTRINSIC
Pfam:PINIT	113	269	1.3e-46	PFAM
Pfam:zf-Nse	305	361	7e-8	PFAM
Pfam:zf-MIZ	314	363	2.6e-22	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alg6	T	A	4: 99,634,584 (GRCm39)	C109S	probably damaging	Het
Arhgdia	C	A	11: 120,471,039 (GRCm39)	E53D	probably benign	Het
Ccr4	A	C	9: 114,321,401 (GRCm39)	C221W	probably damaging	Het
Ces2a	G	A	8: 105,466,910 (GRCm39)		probably null	Het
Chpf2	G	T	5: 24,796,709 (GRCm39)	E552*	probably null	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Dnmt1	C	T	9: 20,838,442 (GRCm39)	R207H	probably benign	Het
Dock2	A	G	11: 34,451,168 (GRCm39)		probably null	Het
Esr1	A	T	10: 4,951,346 (GRCm39)	T575S	probably benign	Het
Fancc	A	G	13: 63,545,965 (GRCm39)	C93R	probably damaging	Het
Foxj3	A	T	4: 119,482,114 (GRCm39)	R523W	unknown	Het
Fryl	C	T	5: 73,227,220 (GRCm39)		probably benign	Het
Fsip2	A	C	2: 82,779,836 (GRCm39)	H194P	probably benign	Het
Gaa	G	A	11: 119,165,559 (GRCm39)	V350I	probably damaging	Het
Gpn3	T	A	5: 122,519,257 (GRCm39)	I152N	probably damaging	Het
H2-M10.3	T	A	17: 36,678,417 (GRCm39)	H136L	probably benign	Het
H4c16	C	T	6: 136,781,335 (GRCm39)		probably benign	Het
Hspg2	A	G	4: 137,239,953 (GRCm39)	D507G	probably damaging	Het
Jcad	A	G	18: 4,674,422 (GRCm39)	E728G	probably benign	Het
Kat14	G	A	2: 144,244,365 (GRCm39)	R406H	possibly damaging	Het
Kcnma1	G	T	14: 23,413,900 (GRCm39)	D863E	probably damaging	Het
Lrp1	A	G	10: 127,410,355 (GRCm39)	Y1464H	probably damaging	Het
Map4	T	C	9: 109,893,485 (GRCm39)	S584P	probably damaging	Het
Nlrp4f	G	A	13: 65,347,085 (GRCm39)	L58F	probably damaging	Het
Nlrp6	A	G	7: 140,503,413 (GRCm39)	I506M	probably benign	Het
Or4a47	A	G	2: 89,665,740 (GRCm39)	L183P	probably damaging	Het
Or4a69	A	G	2: 89,313,018 (GRCm39)	S154P	probably damaging	Het
Or52h9	A	G	7: 104,202,780 (GRCm39)	Y218C	probably damaging	Het
Plcb4	A	G	2: 135,803,714 (GRCm39)	E529G	probably benign	Het
Prss32	A	T	17: 24,075,210 (GRCm39)	I187F	possibly damaging	Het
Prss55	A	T	14: 64,316,818 (GRCm39)	I108K	probably damaging	Het
Rcl1	A	G	19: 29,095,741 (GRCm39)	M109V	probably benign	Het
Rho	A	T	6: 115,912,158 (GRCm39)	M207L	possibly damaging	Het
Slc12a1	A	G	2: 125,012,611 (GRCm39)	D291G	probably damaging	Het
Slco2b1	A	C	7: 99,309,330 (GRCm39)		probably null	Het
Stx11	T	A	10: 12,817,661 (GRCm39)	D21V	possibly damaging	Het
Svep1	T	A	4: 58,115,807 (GRCm39)	Y962F	possibly damaging	Het
Tbx5	G	T	5: 119,974,972 (GRCm39)		probably benign	Het
Tcf12	C	A	9: 71,830,039 (GRCm39)	G141W	probably damaging	Het
Tmtc2	A	G	10: 105,206,407 (GRCm39)	M296T	probably damaging	Het
Trim13	T	A	14: 61,842,999 (GRCm39)	S339T	probably benign	Het
Ugt1a7c	A	G	1: 88,023,239 (GRCm39)	K133E	possibly damaging	Het
Usp40	A	G	1: 87,877,739 (GRCm39)	V1050A	probably benign	Het
Vmn2r86	T	G	10: 130,288,781 (GRCm39)	N240T	probably damaging	Het
Wdr36	T	C	18: 32,992,314 (GRCm39)	V617A	possibly damaging	Het
Wdr38	A	T	2: 38,888,424 (GRCm39)	N7I	probably damaging	Het
Wdr6	T	C	9: 108,452,704 (GRCm39)	Y393C	probably damaging	Het
Zfp619	A	T	7: 39,183,609 (GRCm39)		probably benign	Het

Other mutations in Nudt17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00569:Nudt17	APN	3	96,614,343 (GRCm39)	missense	probably damaging	1.00
IGL00705:Nudt17	APN	3	96,614,516 (GRCm39)	critical splice donor site	probably null
IGL01945:Nudt17	APN	3	96,614,355 (GRCm39)	missense	probably damaging	1.00
R6327:Nudt17	UTSW	3	96,615,080 (GRCm39)	intron	probably benign
R9356:Nudt17	UTSW	3	96,613,688 (GRCm39)	missense	probably damaging	0.96
R9430:Nudt17	UTSW	3	96,614,224 (GRCm39)	critical splice donor site	probably null

Posted On

2015-04-16