Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02700:Nedd4l'

304093

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nedd4l

Ensembl Gene

ENSMUSG00000024589

Gene Name

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

Synonyms

Nedd4-2, Nedd4b, 1300012C07Rik

Accession Numbers

Essential gene?

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

Stock #

IGL02700

Quality Score

Status

Chromosome

Chromosomal Location

65020776-65350899 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 65342751 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 755 (R755C)

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

probably damaging
Transcript: ENSMUST00000080418
AA Change: R775C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000079280
Gene: ENSMUSG00000024589
AA Change: R775C

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 damaging
Transcript: ENSMUST00000163516
AA Change: R896C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000132838
Gene: ENSMUSG00000024589
AA Change: R896C

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 damaging
Transcript: ENSMUST00000224347
AA Change: R755C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224663

Predicted Effect

probably damaging
Transcript: ENSMUST00000226058
AA Change: R775C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018B08Rik	C	A	8: 122,262,161 (GRCm39)		probably null	Het
Acacb	A	G	5: 114,356,942 (GRCm39)	Y1291C	probably damaging	Het
Agtpbp1	C	T	13: 59,676,233 (GRCm39)	C179Y	probably damaging	Het
Capn15	T	C	17: 26,181,982 (GRCm39)	D609G	probably damaging	Het
Cnnm3	T	A	1: 36,552,189 (GRCm39)	F400I	probably damaging	Het
Dst	A	C	1: 34,301,201 (GRCm39)	E1189A	probably damaging	Het
Gcnt1	G	A	19: 17,306,780 (GRCm39)	T315I	probably damaging	Het
H2-M1	T	C	17: 36,982,161 (GRCm39)	I147V	possibly damaging	Het
Hk1	T	C	10: 62,120,590 (GRCm39)	N536D	probably damaging	Het
Klhl5	C	T	5: 65,288,773 (GRCm39)	Q12*	probably null	Het
Lgals12	C	T	19: 7,575,455 (GRCm39)	A294T	probably benign	Het
Mideas	T	C	12: 84,199,636 (GRCm39)	N1028S	probably benign	Het
Mki67	G	T	7: 135,309,931 (GRCm39)	S173R	probably benign	Het
Obox5	A	G	7: 15,492,888 (GRCm39)	D281G	possibly damaging	Het
Or4f6	T	C	2: 111,839,036 (GRCm39)	D165G	probably benign	Het
Pacs2	T	A	12: 113,025,330 (GRCm39)	I494N	probably damaging	Het
Pax5	G	T	4: 44,682,722 (GRCm39)	T141K	probably damaging	Het
Phf21b	T	C	15: 84,687,662 (GRCm39)	N230S	probably benign	Het
Rab3gap1	G	T	1: 127,866,342 (GRCm39)	A841S	probably benign	Het
Siglecf	T	C	7: 43,001,802 (GRCm39)	L204P	probably damaging	Het
Slc39a10	G	A	1: 46,857,288 (GRCm39)	A696V	probably damaging	Het
Snca	G	A	6: 60,804,521 (GRCm39)	T22I	possibly damaging	Het
Syvn1	A	G	19: 6,097,973 (GRCm39)	T4A	probably benign	Het
Usp36	T	C	11: 118,166,983 (GRCm39)	N298S	possibly damaging	Het
Usp42	A	T	5: 143,702,883 (GRCm39)	S579R	probably benign	Het
Vezf1	T	C	11: 87,964,129 (GRCm39)	S94P	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
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
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

2015-04-16