Mutagenetix > Incidental Mutation

Incidental Mutation 'R4790:Nedd4l'

368526

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

042418-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.201) question?

Stock #

R4790 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

64887705-65217831 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 65203945 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 668 (I668V)

Ref Sequence

ENSEMBL: ENSMUSP00000153052 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000080418
AA Change: I688V

PolyPhen 2 Score 0.523 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000079280
Gene: ENSMUSG00000024589
AA Change: I688V

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

possibly damaging
Transcript: ENSMUST00000163516
AA Change: I809V

PolyPhen 2 Score 0.758 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000132838
Gene: ENSMUSG00000024589
AA Change: I809V

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

possibly damaging
Transcript: ENSMUST00000224347
AA Change: I668V

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224663

Predicted Effect

possibly damaging
Transcript: ENSMUST00000226058
AA Change: I688V

PolyPhen 2 Score 0.523 (Sensitivity: 0.88; Specificity: 0.90)

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.2%

Validation Efficiency

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: 118 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600015I10Rik	T	A	6: 48,930,552	I162N	probably damaging	Het
Abca5	T	G	11: 110,311,410	T390P	possibly damaging	Het
Acss3	A	T	10: 107,023,702	Y345*	probably null	Het
Adam26b	A	T	8: 43,520,727	S413T	probably benign	Het
Angpt2	T	A	8: 18,714,082	Q148L	probably damaging	Het
Ank3	T	A	10: 69,988,151	Y883*	probably null	Het
Ankrd52	A	G	10: 128,380,945	K190E	possibly damaging	Het
Anks1b	A	G	10: 90,163,275	R415G	probably damaging	Het
Ano3	T	A	2: 110,884,919	Q58L	probably benign	Het
Arhgap39	A	T	15: 76,726,731	M924K	possibly damaging	Het
AU040320	A	G	4: 126,847,215	M910V	possibly damaging	Het
BC051019	T	A	7: 109,716,346	H86L	probably benign	Het
C1qbp	G	A	11: 70,980,030	Q151*	probably null	Het
C4b	G	T	17: 34,734,143	D1069E	probably benign	Het
C77080	C	A	4: 129,223,302	R523L	probably damaging	Het
Casp1	C	T	9: 5,303,020	T158I	probably benign	Het
Casq1	T	C	1: 172,216,837	D141G	probably damaging	Het
Ccdc33	T	A	9: 58,029,957	E653V	probably damaging	Het
Cd180	C	T	13: 102,702,822	T71M	probably damaging	Het
Cdk4	T	C	10: 127,064,701	L112P	probably damaging	Het
Celf2	A	G	2: 6,549,903	F425S	probably damaging	Het
Chrm3	A	T	13: 9,877,662	V446E	probably benign	Het
Chst9	A	T	18: 15,453,050	L152H	probably damaging	Het
Cib2	A	G	9: 54,549,803		probably null	Het
Clec18a	T	C	8: 111,072,085	S366G	probably damaging	Het
Crebbp	A	G	16: 4,180,119	F34L	probably damaging	Het
Dapk1	AT	A	13: 60,723,105		probably null	Het
Ddi1	T	A	9: 6,265,761	M203L	probably benign	Het
Ddx20	G	T	3: 105,683,169	S270R	probably benign	Het
Epp13	A	T	7: 6,266,318	K31*	probably null	Het
Espnl	A	T	1: 91,344,424	E458V	probably damaging	Het
Fat3	T	C	9: 15,998,484	D2074G	probably damaging	Het
Fcf1	A	G	12: 84,974,128	T61A	probably benign	Het
Fkbp15	T	C	4: 62,307,997	R772G	probably benign	Het
Flnb	T	C	14: 7,905,661	V1137A	probably benign	Het
Fosb	C	A	7: 19,309,388	C15F	probably damaging	Het
Frem2	A	T	3: 53,516,741	W3092R	probably benign	Het
Gm3248	T	C	14: 5,945,831	I28V	probably damaging	Het
Gm4922	G	T	10: 18,784,168	L269I	possibly damaging	Het
Gucy2e	G	A	11: 69,228,448	R627W	probably damaging	Het
Hephl1	T	A	9: 15,059,171	E1009V	probably damaging	Het
Hsf4	A	T	8: 105,270,605	Q61L	probably damaging	Het
Itgam	T	A	7: 128,116,273	N1046K	probably benign	Het
Itgav	G	A	2: 83,755,810	C138Y	probably damaging	Het
Itih4	A	T	14: 30,889,910	Y157F	probably damaging	Het
Kcnt2	C	T	1: 140,354,516	R80C	probably damaging	Het
Kdm4b	G	A	17: 56,401,618	V986M	probably damaging	Het
Lamb3	T	A	1: 193,339,886	V1014D	probably damaging	Het
Lrrc74b	G	T	16: 17,549,853	N282K	probably damaging	Het
Map3k20	T	A	2: 72,441,704	H725Q	probably benign	Het
Mink1	A	G	11: 70,599,041	N81S	probably damaging	Het
Mmp21	A	G	7: 133,675,030	Y415H	probably damaging	Het
Mycbp2	A	T	14: 103,229,437	W1297R	probably damaging	Het
Myh8	T	C	11: 67,279,963	M95T	probably damaging	Het
Myo7b	A	T	18: 32,000,105		probably null	Het
Nanog	A	G	6: 122,707,915	M20V	probably benign	Het
Ncapd3	A	G	9: 27,051,850	I484V	probably benign	Het
Ndufa12	A	T	10: 94,220,758	N116I	probably benign	Het
Nobox	T	C	6: 43,305,546	D309G	probably benign	Het
Npnt	A	G	3: 132,890,762		probably benign	Het
Nrxn1	A	C	17: 90,455,049	Y2D	possibly damaging	Het
Obox6	G	T	7: 15,834,577	P125T	possibly damaging	Het
Ofcc1	G	A	13: 40,015,388	T841I	probably damaging	Het
Olfr1079	T	C	2: 86,538,880	T10A	possibly damaging	Het
Olfr1193	T	A	2: 88,678,387	N177K	possibly damaging	Het
Olfr1436	A	G	19: 12,298,941	Y64H	possibly damaging	Het
Olfr202	A	T	16: 59,284,458	V13D	probably damaging	Het
Olfr679	T	C	7: 105,086,637		probably benign	Het
Olfr697	C	G	7: 106,741,791	V48L	probably benign	Het
Olfr761	T	C	17: 37,952,742	Y94C	probably damaging	Het
Osm	A	T	11: 4,238,435	M21L	probably benign	Het
Otogl	T	A	10: 107,822,033		probably null	Het
Otud4	T	G	8: 79,666,773	S493A	possibly damaging	Het
Pars2	A	G	4: 106,651,111		probably benign	Het
Phlda3	T	A	1: 135,766,819	V124E	possibly damaging	Het
Pias4	T	C	10: 81,157,492	D199G	probably damaging	Het
Pm20d1	T	C	1: 131,812,039	L375P	probably benign	Het
Pole2	T	C	12: 69,226,365	I48V	probably benign	Het
Prrc2c	T	C	1: 162,710,481	R527G	unknown	Het
Rasgrf2	G	T	13: 91,988,016	N592K	probably damaging	Het
Rbm7	A	G	9: 48,495,174	L26P	probably damaging	Het
Rhag	A	G	17: 40,831,290	H208R	probably benign	Het
Rnf17	A	G	14: 56,434,355	E268G	probably damaging	Het
Rnf220	A	G	4: 117,289,055	V23A	probably benign	Het
Rnf7	A	T	9: 96,478,419	V55D	probably damaging	Het
Sdr9c7	C	A	10: 127,903,579	R188S	possibly damaging	Het
Senp6	T	A	9: 80,089,858	N51K	probably benign	Het
Skint3	C	A	4: 112,255,898	T235K	possibly damaging	Het
Slc10a5	A	G	3: 10,335,036	F188S	probably damaging	Het
Slc41a1	G	A	1: 131,830,952	G111R	probably damaging	Het
Smarca1	T	C	X: 47,884,067	D132G	probably null	Het
Snrnp48	C	T	13: 38,221,323	R299W	probably damaging	Het
Sspo	G	A	6: 48,460,771	G1413D	probably benign	Het
Star	T	A	8: 25,808,616	H16Q	probably damaging	Het
Strc	T	C	2: 121,375,594	D779G	probably benign	Het
Sulf2	T	C	2: 166,089,295	Y264C	probably damaging	Het
Supt7l	A	G	5: 31,522,904	S6P	possibly damaging	Het
Syne2	A	G	12: 76,020,391	D4289G	probably benign	Het
Szrd1	A	T	4: 141,139,690		probably null	Het
Tada1	T	C	1: 166,391,954	V275A	possibly damaging	Het
Tbr1	A	T	2: 61,811,588	Y136F	probably benign	Het
Tbx20	T	A	9: 24,725,714	H359L	probably benign	Het
Thbs4	G	T	13: 92,762,806	D560E	probably damaging	Het
Tnfsf14	T	C	17: 57,190,740	H164R	probably damaging	Het
Trmu	T	C	15: 85,882,805	S72P	probably damaging	Het
Tsnaxip1	C	A	8: 105,833,523	Q36K	probably benign	Het
Ttc28	T	A	5: 111,224,217	M844K	possibly damaging	Het
Tubgcp2	T	C	7: 139,999,288	Y695C	probably damaging	Het
Ugt1a10	T	A	1: 88,056,287	M269K	probably damaging	Het
Urb1	A	T	16: 90,769,555	L1448*	probably null	Het
Vmn2r124	A	T	17: 18,049,593	H37L	probably damaging	Het
Vmn2r44	T	C	7: 8,367,950	N699S	probably damaging	Het
Vps35	A	T	8: 85,278,857		probably null	Het
Yipf1	G	T	4: 107,336,199		probably null	Het
Zfp395	A	G	14: 65,386,541	N153S	possibly damaging	Het
Zfp395	A	G	14: 65,393,207	D402G	probably damaging	Het
Zfp652	T	C	11: 95,749,609	V120A	probably damaging	Het
Zp3r	T	C	1: 130,582,892	I364M	probably damaging	Het

Other mutations in Nedd4l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00501:Nedd4l	APN	18	65208092	missense	probably damaging	1.00
IGL00931:Nedd4l	APN	18	65172399	missense	possibly damaging	0.57
IGL02306:Nedd4l	APN	18	65172954	missense	possibly damaging	0.64
IGL02363:Nedd4l	APN	18	65208045	splice site	probably benign
IGL02440:Nedd4l	APN	18	65163173	critical splice donor site	probably null
IGL02444:Nedd4l	APN	18	65203957	splice site	probably benign
IGL02700:Nedd4l	APN	18	65209680	missense	probably damaging	1.00
IGL02943:Nedd4l	APN	18	65161652	critical splice donor site	probably null
IGL02999:Nedd4l	APN	18	65198707	missense	probably damaging	1.00
IGL03135:Nedd4l	APN	18	65205670	missense	probably damaging	1.00
IGL03373:Nedd4l	APN	18	65181320	splice site	probably benign
R0036:Nedd4l	UTSW	18	65051123	intron	probably benign
R0396:Nedd4l	UTSW	18	65161654	splice site	probably benign
R0472:Nedd4l	UTSW	18	65208461	missense	probably damaging	1.00
R0494:Nedd4l	UTSW	18	65173021	missense	possibly damaging	0.69
R0513:Nedd4l	UTSW	18	65195185	splice site	probably benign
R0609:Nedd4l	UTSW	18	65208461	missense	probably damaging	1.00
R0631:Nedd4l	UTSW	18	65208503	splice site	probably benign
R1077:Nedd4l	UTSW	18	65167499	splice site	probably benign
R1643:Nedd4l	UTSW	18	65198641	missense	probably damaging	1.00
R1722:Nedd4l	UTSW	18	65157939	missense	probably damaging	1.00
R1806:Nedd4l	UTSW	18	65212791	missense	probably damaging	1.00
R1921:Nedd4l	UTSW	18	65167575	critical splice donor site	probably null
R1986:Nedd4l	UTSW	18	65143803	missense	probably damaging	1.00
R2070:Nedd4l	UTSW	18	65212820	missense	probably damaging	1.00
R2151:Nedd4l	UTSW	18	65210330	missense	probably damaging	1.00
R2152:Nedd4l	UTSW	18	65210330	missense	probably damaging	1.00
R2154:Nedd4l	UTSW	18	65210330	missense	probably damaging	1.00
R2358:Nedd4l	UTSW	18	65209719	missense	possibly damaging	0.51
R2680:Nedd4l	UTSW	18	65163130	missense	possibly damaging	0.85
R3082:Nedd4l	UTSW	18	65178978	missense	probably benign	0.00
R3500:Nedd4l	UTSW	18	65212860	missense	probably damaging	1.00
R3711:Nedd4l	UTSW	18	65209719	missense	possibly damaging	0.51
R3712:Nedd4l	UTSW	18	65209719	missense	possibly damaging	0.51
R3874:Nedd4l	UTSW	18	65167535	missense	probably benign
R4435:Nedd4l	UTSW	18	65212825	missense	possibly damaging	0.84
R4698:Nedd4l	UTSW	18	65203880	missense	probably damaging	1.00
R4757:Nedd4l	UTSW	18	65165605	missense	probably damaging	0.98
R4783:Nedd4l	UTSW	18	65172927	missense	probably damaging	0.99
R4980:Nedd4l	UTSW	18	65080060	nonsense	probably null
R5106:Nedd4l	UTSW	18	65193305	missense	probably damaging	1.00
R5122:Nedd4l	UTSW	18	65191447	missense	probably damaging	1.00
R5605:Nedd4l	UTSW	18	65174244	critical splice donor site	probably null
R6465:Nedd4l	UTSW	18	65155264	missense	probably benign	0.06
R6479:Nedd4l	UTSW	18	65209681	missense	probably damaging	1.00
R6622:Nedd4l	UTSW	18	65174234	missense	probably damaging	0.99
R6773:Nedd4l	UTSW	18	65167551	missense	probably benign	0.36
R7065:Nedd4l	UTSW	18	65195969	missense	probably benign	0.04
R7068:Nedd4l	UTSW	18	65205651	missense	probably damaging	1.00
R7193:Nedd4l	UTSW	18	64997370	missense	probably damaging	1.00
R7496:Nedd4l	UTSW	18	65080018	missense	possibly damaging	0.94
R7903:Nedd4l	UTSW	18	65186367	missense	probably damaging	1.00
R8123:Nedd4l	UTSW	18	65074774	missense	probably damaging	1.00
R8185:Nedd4l	UTSW	18	65209698	missense	probably damaging	1.00
R8282:Nedd4l	UTSW	18	65191489	missense	probably damaging	0.98
R8440:Nedd4l	UTSW	18	64889055	splice site	probably null
R8499:Nedd4l	UTSW	18	65209657	missense	probably damaging	0.98
R8557:Nedd4l	UTSW	18	65203915	missense	probably benign	0.00
R8801:Nedd4l	UTSW	18	65155275	missense	probably damaging	1.00
R8896:Nedd4l	UTSW	18	65165617	missense	probably benign
R9025:Nedd4l	UTSW	18	65178924	missense	probably damaging	0.98
R9040:Nedd4l	UTSW	18	65209663	missense	probably damaging	0.99
R9482:Nedd4l	UTSW	18	64887960	unclassified	probably benign
R9498:Nedd4l	UTSW	18	65161652	critical splice donor site	probably null
R9599:Nedd4l	UTSW	18	65210329	missense	probably damaging	1.00
RF013:Nedd4l	UTSW	18	65209680	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGCCCATTGCCGGAAAATG -3'
(R):5'- TCACATTCTCAGTATGCACAAGC -3'

Sequencing Primer
(F):5'- CCCATTGCCGGAAAATGTTTTTG -3'
(R):5'- AGATGGCTCAATTGCTCAAGTGC -3'

Posted On

2016-02-04