Mutagenetix > Incidental Mutation

Incidental Mutation 'R2151:Nedd4l'

234323

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

040154-MU

Accession Numbers

Essential gene?

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

Stock #

R2151 (G1)

Quality Score

225

Status

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: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

100% (91/91)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	T	C	12: 72,954,725 (GRCm39)		probably null	Het
4930579F01Rik	A	G	3: 137,882,217 (GRCm39)		probably null	Het
Abhd17c	G	T	7: 83,800,663 (GRCm39)	H130Q	probably damaging	Het
Actr10	T	A	12: 70,987,575 (GRCm39)	C27*	probably null	Het
Als2	G	A	1: 59,246,948 (GRCm39)	H564Y	probably damaging	Het
Anxa2r1	C	T	13: 120,496,335 (GRCm39)	C178Y	unknown	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
Bicd2	G	T	13: 49,533,052 (GRCm39)	C546F	probably damaging	Het
Ccn3	G	A	15: 54,615,854 (GRCm39)	A340T	probably benign	Het
Cnbp	C	T	6: 87,822,281 (GRCm39)	G81D	probably damaging	Het
Dnah5	T	C	15: 28,444,237 (GRCm39)	Y4012H	probably damaging	Het
Dok5	G	A	2: 170,642,816 (GRCm39)	G38D	probably damaging	Het
Drc3	A	T	11: 60,265,983 (GRCm39)	E224V	probably benign	Het
Ehd2	T	C	7: 15,686,128 (GRCm39)	K315E	probably damaging	Het
Eif6	A	T	2: 155,664,810 (GRCm39)	N225K	probably benign	Het
Epg5	T	C	18: 78,070,517 (GRCm39)	V2264A	probably benign	Het
Faf2	T	C	13: 54,796,220 (GRCm39)	F126L	probably damaging	Het
Fiz1	T	C	7: 5,015,880 (GRCm39)	S37G	possibly damaging	Het
Frs3	T	C	17: 48,013,987 (GRCm39)	S227P	probably benign	Het
Garin3	A	T	11: 46,296,158 (GRCm39)	K177*	probably null	Het
Gm4787	T	A	12: 81,423,993 (GRCm39)	I722F	probably benign	Het
Gm6370	T	A	5: 146,430,451 (GRCm39)	L212Q	probably damaging	Het
Gmnc	G	A	16: 26,779,456 (GRCm39)	H142Y	possibly damaging	Het
Gna15	T	C	10: 81,338,738 (GRCm39)	Y367C	probably damaging	Het
Gpr158	G	A	2: 21,832,325 (GRCm39)	V1142M	possibly damaging	Het
Gpx6	A	G	13: 21,503,141 (GRCm39)	K185R	probably damaging	Het
Hc	A	C	2: 34,881,115 (GRCm39)		probably benign	Het
Hdac9	A	G	12: 34,440,255 (GRCm39)	S375P	probably damaging	Het
Kat6b	A	T	14: 21,718,735 (GRCm39)	H1138L	probably benign	Het
Klre1	G	A	6: 129,556,996 (GRCm39)	E33K	possibly damaging	Het
Ldhb	C	A	6: 142,444,396 (GRCm39)	V86L	possibly damaging	Het
Maco1	A	G	4: 134,538,534 (GRCm39)	V470A	probably benign	Het
Magi3	T	A	3: 103,954,198 (GRCm39)	K713I	probably damaging	Het
Magi3	T	C	3: 103,992,554 (GRCm39)	Y306C	probably damaging	Het
Minar1	T	G	9: 89,484,221 (GRCm39)	K392T	possibly damaging	Het
Mmp17	T	C	5: 129,682,725 (GRCm39)	Y455H	probably benign	Het
Mmp25	T	A	17: 23,850,048 (GRCm39)	Y504F	probably damaging	Het
Myo1a	T	C	10: 127,556,050 (GRCm39)	I969T	probably benign	Het
Nf1	T	A	11: 79,338,396 (GRCm39)	M1136K	possibly damaging	Het
Nmi	T	C	2: 51,842,555 (GRCm39)	E179G	probably damaging	Het
Nrros	A	T	16: 31,962,076 (GRCm39)	M611K	probably benign	Het
Nsd1	A	T	13: 55,439,049 (GRCm39)	N1692I	probably damaging	Het
Nuak1	T	C	10: 84,245,509 (GRCm39)	N112S	probably benign	Het
Odf2l	T	C	3: 144,854,785 (GRCm39)	Y488H	possibly damaging	Het
Or4c106	C	A	2: 88,683,128 (GRCm39)	P278H	probably damaging	Het
Or8g21	T	A	9: 38,906,012 (GRCm39)	T240S	probably damaging	Het
Or8g30	T	A	9: 39,230,413 (GRCm39)	I166F	probably damaging	Het
Otop2	A	G	11: 115,220,237 (GRCm39)	D359G	possibly damaging	Het
Pi4ka	A	T	16: 17,185,371 (GRCm39)	F243Y	probably benign	Het
Pnma8b	T	C	7: 16,679,837 (GRCm39)	C274R	probably benign	Het
Ppp1r42	A	G	1: 10,073,572 (GRCm39)	V6A	probably benign	Het
Prrg4	A	G	2: 104,669,733 (GRCm39)	L128S	probably damaging	Het
Prss33	C	T	17: 24,053,817 (GRCm39)	V87M	probably damaging	Het
Psen2	A	G	1: 180,061,229 (GRCm39)	V278A	probably damaging	Het
Ptpn13	C	A	5: 103,673,651 (GRCm39)	T538K	probably damaging	Het
Pttg1ip2	C	T	5: 5,528,875 (GRCm39)	V47I	possibly damaging	Het
Rad51ap2	A	G	12: 11,507,986 (GRCm39)	H636R	probably benign	Het
Rbak	A	C	5: 143,162,257 (GRCm39)	D35E	possibly damaging	Het
Rbms1	C	A	2: 60,592,392 (GRCm39)		probably null	Het
Rgs7bp	T	A	13: 105,100,597 (GRCm39)	N226I	probably damaging	Het
Rnf182	T	A	13: 43,821,899 (GRCm39)	V150E	probably benign	Het
Sacs	A	G	14: 61,447,089 (GRCm39)	Y3045C	probably damaging	Het
Scp2	G	T	4: 107,921,141 (GRCm39)	A23E	probably benign	Het
Sec16a	A	T	2: 26,303,757 (GRCm39)		probably benign	Het
Slc30a5	A	T	13: 100,940,457 (GRCm39)	H619Q	probably damaging	Het
Slfn10-ps	T	A	11: 82,926,511 (GRCm39)		noncoding transcript	Het
Slmap	A	G	14: 26,139,402 (GRCm39)	Y771H	probably damaging	Het
Slx	T	A	X: 26,489,689 (GRCm39)		probably benign	Het
Spns3	C	A	11: 72,436,787 (GRCm39)		probably benign	Het
Stxbp1	T	A	2: 32,692,868 (GRCm39)	I383F	probably damaging	Het
Taf3	C	T	2: 9,956,377 (GRCm39)	E597K	possibly damaging	Het
Tbcd	A	G	11: 121,494,457 (GRCm39)	Q1006R	possibly damaging	Het
Tenm4	G	T	7: 96,552,054 (GRCm39)	V2498F	probably damaging	Het
Tex2	T	C	11: 106,458,161 (GRCm39)		probably benign	Het
Tkfc	A	T	19: 10,576,421 (GRCm39)	L154Q	probably damaging	Het
Tmem62	A	G	2: 120,817,343 (GRCm39)	H257R	probably damaging	Het
Trpm2	T	C	10: 77,768,013 (GRCm39)	I829V	probably benign	Het
Ttc38	A	G	15: 85,735,802 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,548,757 (GRCm39)	Y30135*	probably null	Het
Ttn	A	G	2: 76,810,477 (GRCm39)	V17A	probably benign	Het
Ubqlnl	A	T	7: 103,797,890 (GRCm39)	C536S	probably benign	Het
Vmn1r230	T	A	17: 21,067,063 (GRCm39)	M84K	probably damaging	Het
Vmn1r235	G	A	17: 21,482,628 (GRCm39)	V318I	probably benign	Het
Vmn2r76	T	C	7: 85,879,692 (GRCm39)	I203V	probably benign	Het
Vmn2r97	A	T	17: 19,167,584 (GRCm39)	R613*	probably null	Het
Zfp180	A	G	7: 23,804,685 (GRCm39)	H368R	probably damaging	Het
Zfp407	T	C	18: 84,227,774 (GRCm39)	D1945G	possibly damaging	Het
Zfyve27	G	T	19: 42,160,170 (GRCm39)	R62L	probably benign	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
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'- GGATTTCCCACAGGACTCAC -3'
(R):5'- ATGCTCCCATGATGGCTTCAC -3'

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

Posted On

2014-10-01