Mutagenetix > Incidental Mutation

Incidental Mutation 'R7170:Nedd4'

558199

Institutional Source

Beutler Lab

Gene Symbol

Nedd4

Ensembl Gene

ENSMUSG00000032216

Gene Name

neural precursor cell expressed, developmentally down-regulated 4

Synonyms

Nedd4, Nedd4-1, Nedd4a

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7170 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

72662346-72749852 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 72670099 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 69 (Y69N)

Ref Sequence

ENSEMBL: ENSMUSP00000034740 (fasta)

Gene Model

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

AlphaFold

P46935

PDB Structure

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

Predicted Effect

probably benign
Transcript: ENSMUST00000034740
AA Change: Y69N

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000034740
Gene: ENSMUSG00000032216
AA Change: Y69N

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 benign
Transcript: ENSMUST00000183375
AA Change: Y69N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000138852
Gene: ENSMUSG00000032216
AA Change: Y69N

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 benign
Transcript: ENSMUST00000184450
AA Change: Y69N

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000138983
Gene: ENSMUSG00000032216
AA Change: Y69N

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (81/81)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700080E11Rik	C	A	9: 105,143,401		probably null	Het
Abca8b	T	C	11: 109,945,828	T1214A	probably benign	Het
Adgrf5	G	A	17: 43,446,138	V708M	possibly damaging	Het
Akap9	C	G	5: 3,968,745	H1109D	probably benign	Het
Ankrd7	T	A	6: 18,868,390	Y170*	probably null	Het
Aplp2	T	C	9: 31,170,443	D236G	probably benign	Het
Apoa5	T	C	9: 46,270,139	M171T	probably benign	Het
Bcas3	T	C	11: 85,495,918	V393A	probably damaging	Het
Ccdc47	T	C	11: 106,202,478	N370S	probably benign	Het
Cfap77	A	T	2: 28,985,842	Y85*	probably null	Het
Col4a3	G	A	1: 82,715,909		probably null	Het
Crnn	T	A	3: 93,148,713	S269T	possibly damaging	Het
Crocc2	G	A	1: 93,193,982	A618T	possibly damaging	Het
D030056L22Rik	A	G	19: 18,713,373	K17R	possibly damaging	Het
Emx1	G	A	6: 85,188,001	G20D	probably benign	Het
Fabp3	A	G	4: 130,313,970	D88G	probably benign	Het
Fam124a	A	C	14: 62,587,180	D41A	probably damaging	Het
Fam198a	G	T	9: 121,978,235	A482S	probably damaging	Het
Fanca	T	C	8: 123,271,206	E1247G	probably damaging	Het
Fat3	T	C	9: 16,006,574	R1518G	probably damaging	Het
Fgf12	T	C	16: 28,445,179	I5V	probably benign	Het
Fscn2	C	A	11: 120,362,509	N267K	probably damaging	Het
Fubp3	A	G	2: 31,598,620	T163A	probably benign	Het
Gm498	T	C	7: 143,896,365	S285P	probably damaging	Het
Gm813	G	T	16: 58,615,728	C77*	probably null	Het
Gne	A	G	4: 44,040,361	L601P	possibly damaging	Het
Gphn	T	C	12: 78,683,889	V766A	possibly damaging	Het
Hsf1	G	T	15: 76,500,021	G402C	probably damaging	Het
Ift81	A	T	5: 122,555,533	Y604*	probably null	Het
Iqgap3	T	A	3: 88,102,063	I768N	probably damaging	Het
Kazald1	A	T	19: 45,078,416	D218V	probably benign	Het
Kmt2a	T	C	9: 44,810,721	N3776D	unknown	Het
Ktn1	T	C	14: 47,706,410	L872S	probably damaging	Het
Lama3	T	G	18: 12,404,076	F259L	probably benign	Het
Mfsd6	A	G	1: 52,662,388		probably null	Het
Mical3	A	T	6: 120,973,733		probably null	Het
Mob3b	A	G	4: 35,083,839	Y117H	probably damaging	Het
Mrpl2	G	A	17: 46,648,255	G95D	probably damaging	Het
Mstn	A	T	1: 53,066,395	I299F	probably damaging	Het
Mta3	C	T	17: 83,714,662	R49W	probably damaging	Het
Mylk3	A	G	8: 85,350,485	F574L	probably damaging	Het
Naca	T	A	10: 128,040,121	S341T	unknown	Het
Ncoa1	T	C	12: 4,249,722	D1401G	probably benign	Het
Nin	T	C	12: 70,044,239	T801A		Het
Nsd1	T	A	13: 55,261,626	L1336*	probably null	Het
Olfr1138	C	T	2: 87,737,712	G204D	probably damaging	Het
Olfr1257	A	G	2: 89,880,841	N5S	probably benign	Het
Olfr1257	A	T	2: 89,881,053	T76S	possibly damaging	Het
Oprk1	G	A	1: 5,602,396	R252H	probably damaging	Het
Pcdhga11	T	C	18: 37,756,664	F242L	probably damaging	Het
Pof1b	A	G	X: 112,644,345	I544T	probably benign	Het
Pold1	T	C	7: 44,542,148	H138R	possibly damaging	Het
Ptprd	A	T	4: 76,071,962	D504E	probably benign	Het
Rabgap1l	A	G	1: 160,645,365	V501A	probably damaging	Het
Rimklb	T	C	6: 122,452,738	N233S	probably benign	Het
Rnf213	A	G	11: 119,452,575	I3589V		Het
Rora	T	A	9: 69,373,190	C348*	probably null	Het
Sdhaf3	T	C	6: 6,956,043	V6A	probably benign	Het
Serpina3m	T	A	12: 104,389,518	L148Q	probably damaging	Het
Sik1	T	C	17: 31,848,772	D443G	possibly damaging	Het
Sim2	A	G	16: 94,122,700	T366A	probably benign	Het
Slc32a1	T	C	2: 158,611,323	F28L	probably damaging	Het
Sorbs1	A	T	19: 40,326,129	Y746*	probably null	Het
Speer4b	T	A	5: 27,498,823	N106I	possibly damaging	Het
Sphkap	A	G	1: 83,265,985	S1269P	probably damaging	Het
Tcf4	T	C	18: 69,633,578	V205A	probably damaging	Het
Thsd7a	C	T	6: 12,352,091	R1035H		Het
Tmprss11c	A	T	5: 86,237,619		probably null	Het
Trim50	A	G	5: 135,367,511	T438A	probably benign	Het
Ttc21a	C	T	9: 119,945,541	P287L	probably damaging	Het
Ttc41	C	T	10: 86,713,503	S187L	probably benign	Het
Ttll3	C	T	6: 113,413,878	P807L	probably benign	Het
Ttn	A	C	2: 76,767,352	V19739G	probably benign	Het
Usp15	C	A	10: 123,171,195	C127F	probably damaging	Het
Vmn2r100	G	T	17: 19,531,971	A822S	probably benign	Het
Zan	A	T	5: 137,463,494	V1141D	unknown	Het
Zfp457	A	T	13: 67,294,177	C111*	probably null	Het
Zfp758	C	T	17: 22,375,135	Q201*	probably null	Het
Zkscan2	T	C	7: 123,499,807	E54G	possibly 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
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
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
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

Predicted Primers

PCR Primer
(F):5'- TTACCTACATTTGCACAGACTCAC -3'
(R):5'- ACTTTAACCCCTTGGAGCCAG -3'

Sequencing Primer
(F):5'- GCTGAGCCACTTGAGAATAAGTTAC -3'
(R):5'- CCAGCGTGGTTTACATAGCAAGTTC -3'

Posted On

2019-06-26