Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02177:Nedd4'

283137

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nedd4

Ensembl Gene

ENSMUSG00000032216

Gene Name

neural precursor cell expressed, developmentally down-regulated 4

Synonyms

Nedd4, Nedd4-1, Nedd4a

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02177

Quality Score

Status

Chromosome

Chromosomal Location

72662346-72749852 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 72747157 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 865 (S865T)

Ref Sequence

ENSEMBL: ENSMUSP00000034740 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034740]

PDB Structure

Crystal structure of the Nedd4 C2/Grb10 SH2 complex [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000034740
AA Change: S865T

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

SMART Domains

Protein: ENSMUSP00000034740
Gene: ENSMUSG00000032216
AA Change: S865T

Domain	Start	End	E-Value	Type
C2	79	181	5.38e-21	SMART
WW	250	282	2.32e-13	SMART
low complexity region	283	293	N/A	INTRINSIC
WW	406	438	1.31e-12	SMART
WW	461	493	1.26e-14	SMART
HECTc	550	886	2.37e-194	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183451

Predicted Effect

probably benign
Transcript: ENSMUST00000184020

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184287

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous mutation of this gene results in neonatal lethality and heterozygous mice have decreased body weights. Mice homozygous for a knockout allele exhibit impaired neurite development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Add3	T	G	19: 53,216,892	Y24*	probably null	Het
Catsperb	A	G	12: 101,541,462	Y496C	probably damaging	Het
Ccdc183	C	T	2: 25,612,083	E260K	probably benign	Het
Ccdc81	A	C	7: 89,875,780	M531R	possibly damaging	Het
Cyp3a16	T	A	5: 145,450,154	N342I	probably benign	Het
Defb43	T	C	14: 63,011,817	V3A	probably benign	Het
Dpyd	T	A	3: 119,064,910	I591N	possibly damaging	Het
Dpysl5	T	G	5: 30,745,278	V18G	probably damaging	Het
Erc2	A	T	14: 27,898,623	M69L	probably benign	Het
Fam184b	G	T	5: 45,532,815	Y817*	probably null	Het
Fyb	G	T	15: 6,658,566		probably null	Het
Gpr33	G	T	12: 52,024,080	Q59K	probably benign	Het
Heatr3	T	G	8: 88,156,723	F278V	probably benign	Het
Hectd1	A	T	12: 51,772,320	D1292E	probably damaging	Het
Herc1	A	T	9: 66,434,511	M1861L	probably benign	Het
Hspg2	T	A	4: 137,515,316	L614Q	probably damaging	Het
Itpr3	A	G	17: 27,099,614	R915G	possibly damaging	Het
Jhy	T	C	9: 40,898,257	D646G	probably damaging	Het
Lrig1	T	A	6: 94,663,996	N76I	possibly damaging	Het
Macc1	A	G	12: 119,465,557	D814G	probably damaging	Het
Mapk8ip1	T	C	2: 92,386,747	D401G	probably damaging	Het
Olfr1412	G	A	1: 92,588,757	M142I	possibly damaging	Het
Pi4ka	A	T	16: 17,318,282	D937E	probably benign	Het
Prkcd	T	A	14: 30,605,887	I81F	probably damaging	Het
Ranbp9	A	T	13: 43,419,717	C280S	probably damaging	Het
Ror2	C	T	13: 53,110,728	S764N	probably damaging	Het
Scn1b	T	C	7: 31,117,230	*219W	probably null	Het
Slain2	T	C	5: 72,914,665	V14A	probably benign	Het
Soat1	A	T	1: 156,440,503		probably benign	Het
Tbc1d4	T	A	14: 101,454,939	M1030L	possibly damaging	Het
Tenm4	T	C	7: 96,895,662	V2295A	probably benign	Het
Tmem135	A	G	7: 89,338,453	Y46H	probably damaging	Het
Tnfsf18	A	T	1: 161,503,785	D168V	probably damaging	Het
Trdn	T	C	10: 33,139,173	V41A	probably damaging	Het
Trpc5	G	T	X: 144,481,238	L208I	probably damaging	Het
Vmn1r50	T	C	6: 90,108,157	Y295H	probably benign	Het
Vmn2r18	T	G	5: 151,586,809	H33P	possibly damaging	Het
Vmn2r84	T	C	10: 130,392,012	I118M	probably benign	Het

Other mutations in Nedd4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:Nedd4	APN	9	72735089	missense	probably damaging	1.00
IGL00573:Nedd4	APN	9	72686056	splice site	probably null
IGL01973:Nedd4	APN	9	72736934	missense	possibly damaging	0.81
IGL03082:Nedd4	APN	9	72677394	critical splice donor site	probably null
Evaporation	UTSW	9	72686095	missense	probably damaging	1.00
reduction	UTSW	9	72731271	missense	possibly damaging	0.49
R0194:Nedd4	UTSW	9	72670053	missense	possibly damaging	0.72
R0714:Nedd4	UTSW	9	72731446	splice site	probably benign
R1331:Nedd4	UTSW	9	72677386	missense	probably damaging	1.00
R1633:Nedd4	UTSW	9	72671257	missense	possibly damaging	0.50
R1764:Nedd4	UTSW	9	72730907	missense	probably damaging	0.99
R2192:Nedd4	UTSW	9	72742718	missense	probably damaging	0.99
R2196:Nedd4	UTSW	9	72725074	missense	possibly damaging	0.77
R2220:Nedd4	UTSW	9	72736707	missense	probably damaging	1.00
R2850:Nedd4	UTSW	9	72725074	missense	possibly damaging	0.77
R2994:Nedd4	UTSW	9	72730903	missense	probably benign	0.04
R3040:Nedd4	UTSW	9	72669961	missense	probably benign
R3697:Nedd4	UTSW	9	72740187	missense	probably damaging	1.00
R3884:Nedd4	UTSW	9	72725077	missense	probably benign	0.16
R4475:Nedd4	UTSW	9	72671239	nonsense	probably null
R4476:Nedd4	UTSW	9	72671239	nonsense	probably null
R4883:Nedd4	UTSW	9	72740233	splice site	probably null
R5066:Nedd4	UTSW	9	72710519	missense	probably damaging	1.00
R5947:Nedd4	UTSW	9	72730850	intron	probably benign
R5974:Nedd4	UTSW	9	72743638	critical splice donor site	probably null
R6247:Nedd4	UTSW	9	72726438	missense	probably damaging	1.00
R6651:Nedd4	UTSW	9	72731271	missense	possibly damaging	0.49
R6661:Nedd4	UTSW	9	72686095	missense	probably damaging	1.00
R7170:Nedd4	UTSW	9	72670099	missense	probably benign	0.00
R7237:Nedd4	UTSW	9	72725064	missense	probably benign	0.04
R7653:Nedd4	UTSW	9	72743628	missense	probably damaging	1.00
R7772:Nedd4	UTSW	9	72677326	missense	possibly damaging	0.77
R7905:Nedd4	UTSW	9	72677379	nonsense	probably null
R7988:Nedd4	UTSW	9	72677379	nonsense	probably null
Z1088:Nedd4	UTSW	9	72670078	missense	probably benign	0.22

Posted On

2015-04-16