Mutagenetix > Incidental Mutation

Incidental Mutation 'R0036:Nedd4l'

18599

Institutional Source

Beutler Lab

Gene Symbol

Nedd4l

Ensembl Gene

ENSMUSG00000024589

Gene Name

neural precursor cell expressed, developmentally down-regulated gene 4-like

Synonyms

Nedd4-2, Nedd4b, 1300012C07Rik

MMRRC Submission

038330-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.196) question?

Stock #

R0036 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

65020776-65350899 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 65184194 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153526 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080418] [ENSMUST00000163516] [ENSMUST00000224347] [ENSMUST00000224385] [ENSMUST00000226058] [ENSMUST00000225261] [ENSMUST00000225057]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000080418

SMART Domains

Protein: ENSMUSP00000079280
Gene: ENSMUSG00000024589

Domain	Start	End	E-Value	Type
PDB:3M7F\|B	1	64	2e-21	PDB
WW	73	105	2.32e-13	SMART
low complexity region	139	154	N/A	INTRINSIC
low complexity region	166	178	N/A	INTRINSIC
low complexity region	234	247	N/A	INTRINSIC
WW	266	298	2.08e-15	SMART
low complexity region	355	371	N/A	INTRINSIC
WW	378	410	4.1e-14	SMART
WW	429	461	1.53e-13	SMART
HECTc	518	854	3.04e-183	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000163516

SMART Domains

Protein: ENSMUSP00000132838
Gene: ENSMUSG00000024589

Domain	Start	End	E-Value	Type
C2	21	124	1.76e-25	SMART
WW	194	226	2.32e-13	SMART
low complexity region	260	275	N/A	INTRINSIC
low complexity region	287	299	N/A	INTRINSIC
low complexity region	355	368	N/A	INTRINSIC
WW	387	419	2.08e-15	SMART
low complexity region	476	492	N/A	INTRINSIC
WW	499	531	4.1e-14	SMART
WW	550	582	1.53e-13	SMART
HECTc	639	975	3.04e-183	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223959

Predicted Effect

probably benign
Transcript: ENSMUST00000224347

Predicted Effect

probably benign
Transcript: ENSMUST00000224385

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224516

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224890

Predicted Effect

probably benign
Transcript: ENSMUST00000226058

Predicted Effect

probably benign
Transcript: ENSMUST00000225261

Predicted Effect

probably benign
Transcript: ENSMUST00000225057

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 79.1%
3x: 69.3%
10x: 43.3%
20x: 23.5%

Validation Efficiency

91% (49/54)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Nedd4 family of HECT domain E3 ubiquitin ligases. HECT domain E3 ubiquitin ligases transfer ubiquitin from E2 ubiquitin-conjugating enzymes to protein substrates, thus targeting specific proteins for lysosomal degradation. The encoded protein mediates the ubiquitination of multiple target substrates and plays a critical role in epithelial sodium transport by regulating the cell surface expression of the epithelial sodium channel, ENaC. Single nucleotide polymorphisms in this gene may be associated with essential hypertension. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]
PHENOTYPE: Mice homozygous for a null mutation display salt sensitive hypertension and high salt diet induced cardiac hypertrophy. A spontaneous mutation results in overt diabetes insipidus. Mice homozygous for a knock-out allele exhibit neonatal lethality with primary atelectasis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cfap44	A	G	16: 44,259,432 (GRCm39)	E1098G	possibly damaging	Het
Cfap95	A	T	19: 23,593,932 (GRCm39)		probably benign	Het
Ctsq	C	T	13: 61,185,485 (GRCm39)		probably null	Het
Dock9	C	T	14: 121,860,265 (GRCm39)	V886M	probably damaging	Het
Eaf2	T	C	16: 36,621,020 (GRCm39)	Y224C	probably benign	Het
Eif5b	T	A	1: 38,058,192 (GRCm39)	S165T	probably benign	Het
Eln	A	G	5: 134,739,914 (GRCm39)		probably null	Het
Jakmip1	A	G	5: 37,291,648 (GRCm39)	K514R	probably null	Het
Myo1e	T	A	9: 70,248,590 (GRCm39)	W435R	probably damaging	Het
Nadsyn1	T	C	7: 143,365,028 (GRCm39)	I226V	probably benign	Het
Phrf1	T	C	7: 140,841,693 (GRCm39)	M1435T	probably damaging	Het
Ppic	A	T	18: 53,542,264 (GRCm39)	I148N	probably damaging	Het
Sdr16c6	C	A	4: 4,063,335 (GRCm39)		probably benign	Het
Sgo2a	T	C	1: 58,054,787 (GRCm39)	S324P	probably benign	Het
Slf1	G	T	13: 77,249,070 (GRCm39)	Q373K	probably benign	Het
Tfg	G	T	16: 56,511,358 (GRCm39)	Q324K	probably benign	Het
Wdr64	G	T	1: 175,556,496 (GRCm39)	G248*	probably null	Het

Other mutations in Nedd4l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00501:Nedd4l	APN	18	65,341,163 (GRCm39)	missense	probably damaging	1.00
IGL00931:Nedd4l	APN	18	65,305,470 (GRCm39)	missense	possibly damaging	0.57
IGL02306:Nedd4l	APN	18	65,306,025 (GRCm39)	missense	possibly damaging	0.64
IGL02363:Nedd4l	APN	18	65,341,116 (GRCm39)	splice site	probably benign
IGL02440:Nedd4l	APN	18	65,296,244 (GRCm39)	critical splice donor site	probably null
IGL02444:Nedd4l	APN	18	65,337,028 (GRCm39)	splice site	probably benign
IGL02700:Nedd4l	APN	18	65,342,751 (GRCm39)	missense	probably damaging	1.00
IGL02943:Nedd4l	APN	18	65,294,723 (GRCm39)	critical splice donor site	probably null
IGL02999:Nedd4l	APN	18	65,331,778 (GRCm39)	missense	probably damaging	1.00
IGL03135:Nedd4l	APN	18	65,338,741 (GRCm39)	missense	probably damaging	1.00
IGL03373:Nedd4l	APN	18	65,314,391 (GRCm39)	splice site	probably benign
R0396:Nedd4l	UTSW	18	65,294,725 (GRCm39)	splice site	probably benign
R0472:Nedd4l	UTSW	18	65,341,532 (GRCm39)	missense	probably damaging	1.00
R0494:Nedd4l	UTSW	18	65,306,092 (GRCm39)	missense	possibly damaging	0.69
R0513:Nedd4l	UTSW	18	65,328,256 (GRCm39)	splice site	probably benign
R0609:Nedd4l	UTSW	18	65,341,532 (GRCm39)	missense	probably damaging	1.00
R0631:Nedd4l	UTSW	18	65,341,574 (GRCm39)	splice site	probably benign
R1077:Nedd4l	UTSW	18	65,300,570 (GRCm39)	splice site	probably benign
R1643:Nedd4l	UTSW	18	65,331,712 (GRCm39)	missense	probably damaging	1.00
R1722:Nedd4l	UTSW	18	65,291,010 (GRCm39)	missense	probably damaging	1.00
R1806:Nedd4l	UTSW	18	65,345,862 (GRCm39)	missense	probably damaging	1.00
R1921:Nedd4l	UTSW	18	65,300,646 (GRCm39)	critical splice donor site	probably null
R1986:Nedd4l	UTSW	18	65,276,874 (GRCm39)	missense	probably damaging	1.00
R2070:Nedd4l	UTSW	18	65,345,891 (GRCm39)	missense	probably damaging	1.00
R2151:Nedd4l	UTSW	18	65,343,401 (GRCm39)	missense	probably damaging	1.00
R2152:Nedd4l	UTSW	18	65,343,401 (GRCm39)	missense	probably damaging	1.00
R2154:Nedd4l	UTSW	18	65,343,401 (GRCm39)	missense	probably damaging	1.00
R2358:Nedd4l	UTSW	18	65,342,790 (GRCm39)	missense	possibly damaging	0.51
R2680:Nedd4l	UTSW	18	65,296,201 (GRCm39)	missense	possibly damaging	0.85
R3082:Nedd4l	UTSW	18	65,312,049 (GRCm39)	missense	probably benign	0.00
R3500:Nedd4l	UTSW	18	65,345,931 (GRCm39)	missense	probably damaging	1.00
R3711:Nedd4l	UTSW	18	65,342,790 (GRCm39)	missense	possibly damaging	0.51
R3712:Nedd4l	UTSW	18	65,342,790 (GRCm39)	missense	possibly damaging	0.51
R3874:Nedd4l	UTSW	18	65,300,606 (GRCm39)	missense	probably benign
R4435:Nedd4l	UTSW	18	65,345,896 (GRCm39)	missense	possibly damaging	0.84
R4698:Nedd4l	UTSW	18	65,336,951 (GRCm39)	missense	probably damaging	1.00
R4757:Nedd4l	UTSW	18	65,298,676 (GRCm39)	missense	probably damaging	0.98
R4783:Nedd4l	UTSW	18	65,305,998 (GRCm39)	missense	probably damaging	0.99
R4790:Nedd4l	UTSW	18	65,337,016 (GRCm39)	missense	possibly damaging	0.94
R4980:Nedd4l	UTSW	18	65,213,131 (GRCm39)	nonsense	probably null
R5106:Nedd4l	UTSW	18	65,326,376 (GRCm39)	missense	probably damaging	1.00
R5122:Nedd4l	UTSW	18	65,324,518 (GRCm39)	missense	probably damaging	1.00
R5605:Nedd4l	UTSW	18	65,307,315 (GRCm39)	critical splice donor site	probably null
R6465:Nedd4l	UTSW	18	65,288,335 (GRCm39)	missense	probably benign	0.06
R6479:Nedd4l	UTSW	18	65,342,752 (GRCm39)	missense	probably damaging	1.00
R6622:Nedd4l	UTSW	18	65,307,305 (GRCm39)	missense	probably damaging	0.99
R6773:Nedd4l	UTSW	18	65,300,622 (GRCm39)	missense	probably benign	0.36
R7065:Nedd4l	UTSW	18	65,329,040 (GRCm39)	missense	probably benign	0.04
R7068:Nedd4l	UTSW	18	65,338,722 (GRCm39)	missense	probably damaging	1.00
R7193:Nedd4l	UTSW	18	65,130,441 (GRCm39)	missense	probably damaging	1.00
R7496:Nedd4l	UTSW	18	65,213,089 (GRCm39)	missense	possibly damaging	0.94
R7903:Nedd4l	UTSW	18	65,319,438 (GRCm39)	missense	probably damaging	1.00
R8123:Nedd4l	UTSW	18	65,207,845 (GRCm39)	missense	probably damaging	1.00
R8185:Nedd4l	UTSW	18	65,342,769 (GRCm39)	missense	probably damaging	1.00
R8282:Nedd4l	UTSW	18	65,324,560 (GRCm39)	missense	probably damaging	0.98
R8440:Nedd4l	UTSW	18	65,022,126 (GRCm39)	splice site	probably null
R8499:Nedd4l	UTSW	18	65,342,728 (GRCm39)	missense	probably damaging	0.98
R8557:Nedd4l	UTSW	18	65,336,986 (GRCm39)	missense	probably benign	0.00
R8801:Nedd4l	UTSW	18	65,288,346 (GRCm39)	missense	probably damaging	1.00
R8896:Nedd4l	UTSW	18	65,298,688 (GRCm39)	missense	probably benign
R9025:Nedd4l	UTSW	18	65,311,995 (GRCm39)	missense	probably damaging	0.98
R9040:Nedd4l	UTSW	18	65,342,734 (GRCm39)	missense	probably damaging	0.99
R9482:Nedd4l	UTSW	18	65,021,031 (GRCm39)	unclassified	probably benign
R9498:Nedd4l	UTSW	18	65,294,723 (GRCm39)	critical splice donor site	probably null
R9599:Nedd4l	UTSW	18	65,343,400 (GRCm39)	missense	probably damaging	1.00
RF013:Nedd4l	UTSW	18	65,342,751 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-03-25