Mutagenetix > Incidental Mutation

Incidental Mutation 'R0513:Nedd4l'

48063

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

038707-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.194) question?

Stock #

R0513 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

65020776-65350899 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 65328256 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153526 (fasta)

Gene Model

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

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

probably benign
Transcript: ENSMUST00000224347

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224663

Predicted Effect

probably benign
Transcript: ENSMUST00000226058

Coding Region Coverage

1x: 99.5%
3x: 98.7%
10x: 96.6%
20x: 92.9%

Validation Efficiency

99% (122/123)

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
4833420G17Rik	A	G	13: 119,606,195 (GRCm39)	T146A	probably benign	Het
Abcg4	A	G	9: 44,192,984 (GRCm39)	S121P	possibly damaging	Het
Actr2	T	C	11: 20,030,124 (GRCm39)	T212A	probably damaging	Het
Adcy10	T	A	1: 165,347,088 (GRCm39)	D368E	probably benign	Het
Albfm1	A	T	5: 90,725,786 (GRCm39)	T333S	probably benign	Het
Anapc15	T	C	7: 101,547,747 (GRCm39)		probably benign	Het
Aox4	A	G	1: 58,256,678 (GRCm39)	R67G	probably benign	Het
Aox4	A	G	1: 58,286,459 (GRCm39)	D697G	probably damaging	Het
Arhgap42	A	T	9: 9,005,766 (GRCm39)	S755T	probably benign	Het
Atm	A	G	9: 53,415,248 (GRCm39)	V881A	probably benign	Het
Cdkal1	C	T	13: 29,809,948 (GRCm39)		probably benign	Het
Cfap20dc	A	C	14: 8,536,609 (GRCm38)	D199E	probably damaging	Het
Cfap61	C	A	2: 145,877,215 (GRCm39)	N491K	possibly damaging	Het
Chgb	T	C	2: 132,627,897 (GRCm39)		probably benign	Het
Chrna1	C	A	2: 73,398,426 (GRCm39)		probably benign	Het
Chst10	A	G	1: 38,904,844 (GRCm39)	L283P	probably damaging	Het
Clca3a1	A	G	3: 144,466,323 (GRCm39)		probably null	Het
Crppa	A	T	12: 36,440,467 (GRCm39)	H125L	probably damaging	Het
Cryzl1	G	T	16: 91,496,175 (GRCm39)	A1E	possibly damaging	Het
Csnk1a1	T	C	18: 61,709,618 (GRCm39)	Y213H	probably damaging	Het
Cspg4	A	G	9: 56,805,375 (GRCm39)	Q2062R	probably benign	Het
Ctnnal1	A	G	4: 56,835,348 (GRCm39)	C310R	probably benign	Het
D630003M21Rik	T	C	2: 158,042,228 (GRCm39)	E906G	probably benign	Het
D930048N14Rik	T	C	11: 51,545,755 (GRCm39)		probably benign	Het
Dag1	G	A	9: 108,085,684 (GRCm39)	P486S	possibly damaging	Het
Dgkq	A	G	5: 108,804,361 (GRCm39)	L33P	probably benign	Het
Dlc1	C	T	8: 37,051,164 (GRCm39)	G856R	probably damaging	Het
Dst	T	A	1: 34,258,612 (GRCm39)		probably benign	Het
Dtl	A	T	1: 191,301,819 (GRCm39)	Y79*	probably null	Het
Egfr	T	G	11: 16,822,855 (GRCm39)	L406R	probably damaging	Het
Elp3	A	T	14: 65,800,695 (GRCm39)		probably null	Het
Fbxw19	C	A	9: 109,310,621 (GRCm39)		probably null	Het
Frs2	T	C	10: 116,910,570 (GRCm39)	E264G	possibly damaging	Het
Fscn2	G	T	11: 120,252,706 (GRCm39)	V58L	probably damaging	Het
Gm17324	G	A	9: 78,356,007 (GRCm39)		probably benign	Het
Gm4787	A	T	12: 81,425,086 (GRCm39)	N357K	probably benign	Het
Gm9956	G	T	10: 56,621,291 (GRCm39)			Het
Gsg1l	C	T	7: 125,619,795 (GRCm39)		probably null	Het
Herc1	G	A	9: 66,352,927 (GRCm39)	V2138M	possibly damaging	Het
Htr2a	T	C	14: 74,943,764 (GRCm39)	L448P	probably benign	Het
Ing3	C	T	6: 21,970,034 (GRCm39)	S255L	probably damaging	Het
Krt78	T	C	15: 101,859,384 (GRCm39)	D271G	probably damaging	Het
Lmbrd2	T	A	15: 9,194,816 (GRCm39)	L606H	probably damaging	Het
Lmod1	T	A	1: 135,252,906 (GRCm39)	N53K	probably damaging	Het
Lsr	G	C	7: 30,657,763 (GRCm39)	A467G	probably benign	Het
Mbtd1	T	A	11: 93,823,038 (GRCm39)		probably null	Het
Mill1	T	A	7: 17,998,802 (GRCm39)	Y337*	probably null	Het
Mlxipl	A	T	5: 135,166,117 (GRCm39)	Q833L	probably benign	Het
Mon2	C	T	10: 122,874,515 (GRCm39)	V278M	probably damaging	Het
Mxra8	A	C	4: 155,926,190 (GRCm39)	M180L	probably benign	Het
Myo18a	A	T	11: 77,702,420 (GRCm39)		probably benign	Het
Myo1c	T	G	11: 75,556,657 (GRCm39)		probably null	Het
Myo1g	T	C	11: 6,460,203 (GRCm39)	T782A	probably benign	Het
Ncapd3	A	G	9: 26,975,401 (GRCm39)		probably benign	Het
Neb	T	C	2: 52,198,699 (GRCm39)	D414G	probably damaging	Het
Nf2	T	C	11: 4,741,185 (GRCm39)	K343R	possibly damaging	Het
Nfasc	A	T	1: 132,531,584 (GRCm39)	D733E	possibly damaging	Het
Nolc1	G	A	19: 46,072,598 (GRCm39)	D699N	probably damaging	Het
Nrbp2	C	T	15: 75,960,825 (GRCm39)	A45T	probably benign	Het
Obscn	A	G	11: 58,952,348 (GRCm39)	V3907A	possibly damaging	Het
Or2b6	A	T	13: 21,823,119 (GRCm39)	D191E	probably benign	Het
Or2y6	T	C	11: 52,104,576 (GRCm39)	Q80R	possibly damaging	Het
Or8b8	A	T	9: 37,809,351 (GRCm39)	Y217F	probably damaging	Het
Pank2	C	T	2: 131,124,526 (GRCm39)	T290I	probably damaging	Het
Pbx4	T	C	8: 70,317,529 (GRCm39)	V171A	probably benign	Het
Pcgf1	G	T	6: 83,057,555 (GRCm39)	V75F	probably damaging	Het
Pik3ca	T	C	3: 32,515,660 (GRCm39)	S778P	probably damaging	Het
Pld6	T	C	11: 59,676,047 (GRCm39)	I141M	probably damaging	Het
Polq	T	A	16: 36,914,864 (GRCm39)	V2508E	probably damaging	Het
Prkca	C	G	11: 107,905,202 (GRCm39)	D179H	possibly damaging	Het
Pspn	T	C	17: 57,306,720 (GRCm39)	S70G	probably damaging	Het
Ptchd4	C	T	17: 42,814,637 (GRCm39)	T846I	probably benign	Het
Reg3g	A	C	6: 78,444,827 (GRCm39)	Y50*	probably null	Het
Rev3l	C	T	10: 39,704,139 (GRCm39)	H2062Y	probably benign	Het
Rsph4a	C	T	10: 33,788,987 (GRCm39)	Q611*	probably null	Het
Scart1	C	A	7: 139,804,873 (GRCm39)	C625*	probably null	Het
Scgb1b20	G	A	7: 33,072,739 (GRCm39)		probably null	Het
Sfxn5	T	C	6: 85,246,955 (GRCm39)		probably benign	Het
Sh3tc1	T	A	5: 35,857,651 (GRCm39)	Q1179L	possibly damaging	Het
Skint11	A	G	4: 114,051,762 (GRCm39)	I37V	probably benign	Het
Slc35f5	T	C	1: 125,503,906 (GRCm39)		probably benign	Het
Slc8a2	A	C	7: 15,891,264 (GRCm39)	D768A	probably damaging	Het
Slco6b1	A	G	1: 96,924,909 (GRCm39)		noncoding transcript	Het
Smurf2	T	A	11: 106,726,931 (GRCm39)	T453S	probably benign	Het
Spag16	A	G	1: 70,532,927 (GRCm39)		probably benign	Het
Spindoc	G	A	19: 7,351,509 (GRCm39)	T205I	probably benign	Het
Stab1	T	C	14: 30,870,902 (GRCm39)	I1316V	probably benign	Het
Stox2	T	C	8: 47,646,900 (GRCm39)	R187G	probably damaging	Het
Tcea2	A	C	2: 181,326,274 (GRCm39)	T93P	probably benign	Het
Tenm4	T	C	7: 96,544,830 (GRCm39)	M2311T	probably benign	Het
Tmem63a	A	G	1: 180,788,026 (GRCm39)	Q260R	probably benign	Het
Tnpo2	A	T	8: 85,780,158 (GRCm39)	H698L	probably benign	Het
Trim33	A	G	3: 103,217,700 (GRCm39)	D215G	probably damaging	Het
Ttc3	T	A	16: 94,227,071 (GRCm39)	I727N	probably damaging	Het
Ttn	T	A	2: 76,773,669 (GRCm39)	K2271N	probably damaging	Het
Ubr2	T	A	17: 47,297,705 (GRCm39)	K223*	probably null	Het
Ubr4	A	G	4: 139,144,186 (GRCm39)	M1410V	possibly damaging	Het
Ugt2b35	T	C	5: 87,151,271 (GRCm39)		probably benign	Het
Ulk4	T	A	9: 120,981,391 (GRCm39)	H880L	probably benign	Het
Unc80	G	A	1: 66,661,633 (GRCm39)	C1686Y	possibly damaging	Het
Upf2	T	A	2: 5,962,478 (GRCm39)	L60Q	unknown	Het
Usf2	A	T	7: 30,654,161 (GRCm39)		probably benign	Het
Usp21	T	A	1: 171,110,586 (GRCm39)		probably benign	Het
Usp21	T	A	1: 171,110,588 (GRCm39)		probably benign	Het
Vmn2r118	T	A	17: 55,917,970 (GRCm39)	K181*	probably null	Het
Vmn2r124	T	A	17: 18,293,991 (GRCm39)	S693T	possibly damaging	Het
Vmn2r76	C	A	7: 85,877,987 (GRCm39)	G470V	probably benign	Het
Vps13c	A	C	9: 67,838,017 (GRCm39)	I1856L	probably benign	Het
Vps50	C	T	6: 3,520,210 (GRCm39)	L119F	probably damaging	Het
Wdfy3	T	A	5: 102,038,655 (GRCm39)	S2012C	probably damaging	Het
Zfp1008	A	C	13: 62,753,029 (GRCm39)	V99G	possibly damaging	Het
Zfp142	A	G	1: 74,610,714 (GRCm39)	V924A	probably damaging	Het
Zfp217	C	T	2: 169,957,382 (GRCm39)	A539T	probably benign	Het
Zfp235	T	C	7: 23,841,644 (GRCm39)	S688P	probably damaging	Het
Zfp39	C	T	11: 58,780,813 (GRCm39)	V650I	probably benign	Het
Zfp82	A	T	7: 29,756,265 (GRCm39)	N272K	probably damaging	Het
Zfyve21	A	C	12: 111,789,698 (GRCm39)	D54A	possibly damaging	Het
Zfyve26	C	T	12: 79,291,258 (GRCm39)	D2116N	probably damaging	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
R0036:Nedd4l	UTSW	18	65,184,194 (GRCm39)	intron	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
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

Predicted Primers

PCR Primer
(F):5'- TCAATTACAGAAAGGCGTGGCTGAC -3'
(R):5'- CTGGGTTCAACCTCCTGAGGAAAAC -3'

Sequencing Primer
(F):5'- TCATATCGGTTGCCACGAAG -3'
(R):5'- TCCTGAGGAAAACCAGCTACAG -3'

Posted On

2013-06-12