Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03082:Nedd4'

417926

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 #

IGL03082

Quality Score

Status

Chromosome

Chromosomal Location

72662346-72749852 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 72677394 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000138983 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034740] [ENSMUST00000183375] [ENSMUST00000184333] [ENSMUST00000184450]

AlphaFold

P46935

Predicted Effect

probably null
Transcript: ENSMUST00000034740

SMART Domains

Protein: ENSMUSP00000034740
Gene: ENSMUSG00000032216

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

probably null
Transcript: ENSMUST00000183375

SMART Domains

Protein: ENSMUSP00000138852
Gene: ENSMUSG00000032216

Domain	Start	End	E-Value	Type
C2	79	163	1.12e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000184333

SMART Domains

Protein: ENSMUSP00000139190
Gene: ENSMUSG00000032216

Domain	Start	End	E-Value	Type
C2	4	71	3.38e-4	SMART
WW	140	172	2.32e-13	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000184450

SMART Domains

Protein: ENSMUSP00000138983
Gene: ENSMUSG00000032216

Domain	Start	End	E-Value	Type
C2	79	181	5.38e-21	SMART
WW	250	282	2.32e-13	SMART

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asic1	T	A	15: 99,696,547	N324K	probably benign	Het
Atpaf2	T	C	11: 60,403,844	E251G	probably damaging	Het
Cacna1d	T	C	14: 30,099,233	K1109E	probably damaging	Het
Ces1d	C	A	8: 93,169,718		probably null	Het
Chst1	C	T	2: 92,613,933	T250I	possibly damaging	Het
Cpne6	T	C	14: 55,516,303	L406P	probably damaging	Het
Cryz	A	G	3: 154,604,926	M8V	probably damaging	Het
Dpysl2	T	C	14: 66,808,010	E438G	probably damaging	Het
Elovl1	T	C	4: 118,430,880	I71T	probably benign	Het
Eml2	T	A	7: 19,201,877	Y679N	probably damaging	Het
Fam185a	G	A	5: 21,455,838	V284I	possibly damaging	Het
Fpgs	C	T	2: 32,685,757	W391*	probably null	Het
Hdac11	C	T	6: 91,173,103	P295S	probably damaging	Het
Herc2	A	T	7: 56,185,923	I3260F	probably benign	Het
Hltf	G	A	3: 20,064,559		probably benign	Het
Immp2l	T	G	12: 41,110,901	V66G	possibly damaging	Het
Lrrc4c	T	C	2: 97,630,586	I519T	probably benign	Het
Megf8	A	G	7: 25,330,236	T402A	probably benign	Het
Mttp	T	G	3: 138,123,795	I111L	probably benign	Het
Mycbp2	T	A	14: 103,204,369	I1987F	probably benign	Het
Ncr1	T	A	7: 4,341,242		probably benign	Het
Nnt	A	G	13: 119,396,868	F87S	probably damaging	Het
Nol6	A	G	4: 41,115,878		probably benign	Het
Pdzd3	A	T	9: 44,250,786	S39T	possibly damaging	Het
Pkhd1	A	T	1: 20,565,633	I491N	probably damaging	Het
Plcxd2	T	C	16: 45,965,110	I311V	probably damaging	Het
Pou2f3	C	A	9: 43,146,915		probably null	Het
Rgsl1	G	A	1: 153,799,947	T836I	possibly damaging	Het
Rttn	G	A	18: 88,983,948	G328D	probably damaging	Het
Serpina11	T	C	12: 103,986,301	E77G	probably benign	Het
Slc35f1	G	A	10: 52,933,138	V74I	probably benign	Het
Slc7a6	A	G	8: 106,193,222		probably null	Het
Smco2	A	G	6: 146,860,044	T154A	possibly damaging	Het
Tcerg1	A	G	18: 42,573,357	Y1033C	probably damaging	Het
Tmem87a	A	G	2: 120,397,366	F100S	possibly damaging	Het
Tssk4	T	C	14: 55,651,061	F129S	probably damaging	Het
Wdr43	C	T	17: 71,638,341	T315I	probably damaging	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
IGL02177:Nedd4	APN	9	72747157	missense	probably damaging	1.00
Evaporation	UTSW	9	72686095	missense	probably damaging	1.00
Reduction	UTSW	9	72731271	missense	possibly damaging	0.49
Snookie	UTSW	9	72725064	missense	probably benign	0.04
Sublimation	UTSW	9	72677379	nonsense	probably null
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
R8194:Nedd4	UTSW	9	72686107	missense	probably damaging	1.00
R8229:Nedd4	UTSW	9	72731388	missense	probably benign	0.00
R8422:Nedd4	UTSW	9	72742682	missense	probably damaging	0.99
R8487:Nedd4	UTSW	9	72670039	missense	probably damaging	0.98
R8733:Nedd4	UTSW	9	72726484	missense	possibly damaging	0.80
R8956:Nedd4	UTSW	9	72726426	missense	probably benign	0.03
R9261:Nedd4	UTSW	9	72677374	missense	possibly damaging	0.93
R9447:Nedd4	UTSW	9	72670099	missense	probably benign
Z1088:Nedd4	UTSW	9	72670078	missense	probably benign	0.22

Posted On

2016-08-02