Mutagenetix > Incidental Mutation

Incidental Mutation 'R2152:Nedd4l'

234455

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

040155-MU

Accession Numbers

Essential gene?

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

Stock #

R2152 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

65020776-65350899 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 65343401 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 820 (H820Q)

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 damaging
Transcript: ENSMUST00000080418
AA Change: H820Q

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

SMART Domains

Protein: ENSMUSP00000079280
Gene: ENSMUSG00000024589
AA Change: H820Q

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: H941Q

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

SMART Domains

Protein: ENSMUSP00000132838
Gene: ENSMUSG00000024589
AA Change: H941Q

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: H800Q

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: H820Q

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

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: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr3	A	T	1: 90,141,565 (GRCm39)	Y8F	probably benign	Het
Acy1	T	C	9: 106,312,816 (GRCm39)	E175G	probably damaging	Het
Add2	T	C	6: 86,075,580 (GRCm39)	L243P	probably damaging	Het
Adsl	A	G	15: 80,851,863 (GRCm39)	D407G	probably damaging	Het
Afg3l1	T	G	8: 124,221,575 (GRCm39)	I478S	probably damaging	Het
Aoc1l1	T	A	6: 48,953,473 (GRCm39)	I466N	probably damaging	Het
Arfrp1	T	C	2: 181,001,487 (GRCm39)	T108A	probably benign	Het
Art5	A	G	7: 101,747,407 (GRCm39)	L124P	possibly damaging	Het
Asap2	A	T	12: 21,162,084 (GRCm39)	T14S	probably damaging	Het
Atp2c2	A	G	8: 120,482,841 (GRCm39)	N901S	probably benign	Het
Bbs12	G	T	3: 37,375,309 (GRCm39)	E586*	probably null	Het
Bicd2	G	T	13: 49,533,052 (GRCm39)	C546F	probably damaging	Het
Bid	A	T	6: 120,877,215 (GRCm39)	L42Q	probably damaging	Het
Bpifb9a	A	G	2: 154,102,055 (GRCm39)	K51E	probably benign	Het
Calcr	G	T	6: 3,687,615 (GRCm39)	T424K	probably benign	Het
Cd46	A	G	1: 194,744,721 (GRCm39)	I339T	probably benign	Het
Chek1	C	A	9: 36,635,279 (GRCm39)	V35F	probably damaging	Het
Cntn3	A	G	6: 102,183,498 (GRCm39)	I719T	probably damaging	Het
Cyb5r1	T	C	1: 134,337,363 (GRCm39)	I163T	possibly damaging	Het
Cyp2d26	A	T	15: 82,676,907 (GRCm39)		probably null	Het
Dclk1	A	G	3: 55,154,633 (GRCm39)	Y21C	probably damaging	Het
Dgcr2	G	A	16: 17,709,351 (GRCm39)		probably null	Het
Dhx38	T	C	8: 110,287,306 (GRCm39)	S221G	probably benign	Het
Dis3l	T	A	9: 64,214,545 (GRCm39)	N981I	probably benign	Het
Dnah3	C	T	7: 119,551,236 (GRCm39)	V3028I	probably benign	Het
Dnah6	T	C	6: 73,026,149 (GRCm39)	Y3448C	probably benign	Het
Dok5	G	A	2: 170,642,816 (GRCm39)	G38D	probably damaging	Het
Epb41l1	A	G	2: 156,356,048 (GRCm39)	D528G	probably damaging	Het
Fat4	A	T	3: 39,037,544 (GRCm39)	Y3732F	probably damaging	Het
Fcsk	T	A	8: 111,615,704 (GRCm39)	T542S	probably benign	Het
Fgfr4	A	T	13: 55,314,777 (GRCm39)	Y640F	probably damaging	Het
Foxo6	T	A	4: 120,125,811 (GRCm39)	D328V	probably benign	Het
Foxp1	A	G	6: 98,993,502 (GRCm39)	L134P	probably damaging	Het
Frem2	G	A	3: 53,424,450 (GRCm39)	R2996*	probably null	Het
Garem2	T	C	5: 30,313,297 (GRCm39)	S54P	probably damaging	Het
Gcn1	T	A	5: 115,747,888 (GRCm39)	I1765N	probably benign	Het
Gm4787	T	A	12: 81,423,993 (GRCm39)	I722F	probably benign	Het
Gpc6	G	T	14: 117,163,504 (GRCm39)	A53S	probably benign	Het
Gtpbp8	A	G	16: 44,560,390 (GRCm39)		probably null	Het
H2-Q2	T	C	17: 35,564,252 (GRCm39)		probably null	Het
Hapln2	C	A	3: 87,930,920 (GRCm39)	R157L	probably benign	Het
Hemgn	C	A	4: 46,396,607 (GRCm39)	E210*	probably null	Het
Hpse	T	A	5: 100,839,269 (GRCm39)	K360*	probably null	Het
Iqcj	A	T	3: 67,962,643 (GRCm39)	E68V	probably damaging	Het
Kat2a	T	C	11: 100,603,172 (GRCm39)		probably benign	Het
Kat6b	A	T	14: 21,718,735 (GRCm39)	H1138L	probably benign	Het
Kcnab1	A	T	3: 65,278,861 (GRCm39)	I371F	probably damaging	Het
Klhl30	C	A	1: 91,285,546 (GRCm39)	A356D	probably benign	Het
Klra3	G	C	6: 130,310,107 (GRCm39)	R138G	probably benign	Het
Micu1	G	T	10: 59,699,110 (GRCm39)	M468I	probably benign	Het
Mrc1	A	G	2: 14,332,675 (GRCm39)	T1292A	probably damaging	Het
Myh8	G	A	11: 67,185,295 (GRCm39)	E849K	probably damaging	Het
Myom3	G	T	4: 135,530,544 (GRCm39)	R1152L	probably benign	Het
Nlrp4g	T	A	9: 124,353,339 (GRCm38)		noncoding transcript	Het
Oga	A	T	19: 45,746,461 (GRCm39)	Y779*	probably null	Het
Or13p5	C	T	4: 118,592,446 (GRCm39)	A240V	possibly damaging	Het
Or1m1	T	C	9: 18,666,391 (GRCm39)	D180G	probably damaging	Het
Or2a51	A	G	6: 43,179,003 (GRCm39)	I142V	probably benign	Het
Or51a39	G	T	7: 102,362,788 (GRCm39)	H277Q	probably benign	Het
Or52j3	A	T	7: 102,835,847 (GRCm39)	D13V	probably benign	Het
Or8b49	G	T	9: 38,505,707 (GRCm39)	L63F	probably damaging	Het
Or8g54	A	T	9: 39,706,943 (GRCm39)	I91F	probably benign	Het
Or9s23	T	C	1: 92,501,630 (GRCm39)	S246P	probably damaging	Het
Otop1	T	A	5: 38,460,194 (GRCm39)	M587K	probably damaging	Het
Pgm5	T	A	19: 24,812,179 (GRCm39)	I118F	probably damaging	Het
Phc2	A	G	4: 128,638,859 (GRCm39)	*41W	probably null	Het
Phf8-ps	T	A	17: 33,285,908 (GRCm39)	D298V	probably damaging	Het
Piezo2	A	T	18: 63,247,112 (GRCm39)	M532K	probably damaging	Het
Pjvk	A	T	2: 76,488,713 (GRCm39)	I295F	probably benign	Het
Popdc2	A	G	16: 38,183,482 (GRCm39)	N155S	possibly damaging	Het
Ppp4r3a	G	T	12: 101,008,826 (GRCm39)	N684K	probably damaging	Het
Prpf4b	T	A	13: 35,084,402 (GRCm39)	M930K	probably benign	Het
Ptpn12	C	A	5: 21,207,466 (GRCm39)	Q297H	probably damaging	Het
Ptprz1	C	A	6: 23,030,670 (GRCm39)	L1010I	probably damaging	Het
Rabepk	A	T	2: 34,674,562 (GRCm39)	D232E	possibly damaging	Het
Rad51ap2	A	G	12: 11,507,986 (GRCm39)	H636R	probably benign	Het
Rb1	T	C	14: 73,526,165 (GRCm39)	T169A	probably benign	Het
Rcc2	T	C	4: 140,444,428 (GRCm39)	L373P	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rrbp1	A	G	2: 143,796,118 (GRCm39)	L1200P	possibly damaging	Het
Sdk1	A	G	5: 141,778,699 (GRCm39)	N226D	probably damaging	Het
Selenbp1	G	A	3: 94,851,441 (GRCm39)	R398H	probably damaging	Het
Selenoo	A	G	15: 88,983,485 (GRCm39)	M509V	probably benign	Het
Sidt2	T	C	9: 45,856,638 (GRCm39)	D477G	probably damaging	Het
Slc2a5	T	G	4: 150,210,095 (GRCm39)	S27A	probably damaging	Het
Slc30a5	A	T	13: 100,940,457 (GRCm39)	H619Q	probably damaging	Het
Slc5a9	A	G	4: 111,750,420 (GRCm39)	I146T	possibly damaging	Het
Slc6a1	G	T	6: 114,284,731 (GRCm39)	G263V	probably damaging	Het
Slmap	A	G	14: 26,139,402 (GRCm39)	Y771H	probably damaging	Het
Snx29	A	G	16: 11,218,707 (GRCm39)	D181G	possibly damaging	Het
Spata31d1c	G	A	13: 65,181,779 (GRCm39)		probably null	Het
Stat5a	C	A	11: 100,764,916 (GRCm39)	T213N	probably benign	Het
Stt3a	A	T	9: 36,659,292 (GRCm39)	V349D	probably damaging	Het
Tcf20	A	T	15: 82,739,803 (GRCm39)	D549E	probably damaging	Het
Thbs2	T	A	17: 14,893,471 (GRCm39)	D903V	probably damaging	Het
Tln2	T	C	9: 67,209,842 (GRCm39)	T432A	probably damaging	Het
Tmc1	A	T	19: 20,834,039 (GRCm39)	N241K	probably benign	Het
Tmem260	G	T	14: 48,715,066 (GRCm39)	R240L	possibly damaging	Het
Tnfaip6	A	T	2: 51,933,742 (GRCm39)	E32D	probably damaging	Het
Trpa1	A	T	1: 14,969,625 (GRCm39)	H381Q	probably damaging	Het
Tsen2	T	C	6: 115,524,936 (GRCm39)	I45T	possibly damaging	Het
Ttc6	G	A	12: 57,752,338 (GRCm39)	V1415I	probably damaging	Het
Ttll7	G	T	3: 146,635,944 (GRCm39)	R426L	probably damaging	Het
Ttn	A	C	2: 76,570,482 (GRCm39)	S26804A	probably damaging	Het
Ubqlnl	A	T	7: 103,797,890 (GRCm39)	C536S	probably benign	Het
Vmn2r73	A	G	7: 85,506,936 (GRCm39)	V792A	probably benign	Het
Zfp345	T	C	2: 150,314,578 (GRCm39)	T320A	probably benign	Het
Zfp407	T	C	18: 84,227,774 (GRCm39)	D1945G	possibly 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
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
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'- GATTTCCCACAGGACTCACC -3'
(R):5'- ATGCTCCCATGATGGCTTCAC -3'

Sequencing Primer
(F):5'- GCAGACCGCACTCTGAG -3'
(R):5'- GCATGCTCTGCCTACGTGTATG -3'

Posted On

2014-10-01