Incidental Mutation 'R6773:Nedd4l'
| ID |
532264 |
| 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 |
044889-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.196)
|
| Stock # |
R6773 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
65020776-65350899 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 65300622 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 369
(V369A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132838
(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
AA Change: V248A
PolyPhen 2
Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000079280
Gene: ENSMUSG00000024589
AA Change: V248A
| 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
AA Change: V369A
PolyPhen 2
Score 0.363 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000132838
Gene: ENSMUSG00000024589
AA Change: V369A
| 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 |
probably benign
Transcript: ENSMUST00000226058
AA Change: V248A
PolyPhen 2
Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)
|
| Meta Mutation Damage Score |
0.0863 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 96.8%
|
| Validation Efficiency |
98% (44/45) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adrm1b |
T |
A |
3: 92,336,556 (GRCm39) |
I49F |
probably damaging |
Het |
| Aqp6 |
A |
G |
15: 99,500,558 (GRCm39) |
D161G |
probably damaging |
Het |
| Aqr |
A |
T |
2: 113,979,477 (GRCm39) |
N319K |
possibly damaging |
Het |
| Asns |
C |
A |
6: 7,676,284 (GRCm39) |
R424L |
probably benign |
Het |
| Atp4a |
T |
C |
7: 30,414,802 (GRCm39) |
V197A |
probably damaging |
Het |
| Ccdc70 |
A |
G |
8: 22,463,321 (GRCm39) |
E37G |
probably damaging |
Het |
| Ccdc88b |
A |
T |
19: 6,826,409 (GRCm39) |
V1102E |
possibly damaging |
Het |
| Cd82 |
G |
A |
2: 93,252,221 (GRCm39) |
A130V |
probably benign |
Het |
| Cfap46 |
T |
C |
7: 139,222,477 (GRCm39) |
|
probably benign |
Het |
| Cnot6l |
A |
C |
5: 96,242,158 (GRCm39) |
C188W |
probably damaging |
Het |
| Cxcr6 |
A |
T |
9: 123,639,355 (GRCm39) |
T119S |
possibly damaging |
Het |
| Dok7 |
G |
A |
5: 35,234,528 (GRCm39) |
R193H |
probably damaging |
Het |
| Dpy19l1 |
A |
T |
9: 24,352,068 (GRCm39) |
S386T |
probably damaging |
Het |
| Frem3 |
A |
C |
8: 81,338,444 (GRCm39) |
T246P |
probably damaging |
Het |
| Gm29666 |
A |
T |
15: 84,798,360 (GRCm39) |
I67K |
unknown |
Het |
| Gpr153 |
T |
A |
4: 152,363,757 (GRCm39) |
V59E |
probably damaging |
Het |
| Inpp4b |
G |
A |
8: 82,583,249 (GRCm39) |
|
probably benign |
Het |
| Kcnj13 |
T |
C |
1: 87,314,482 (GRCm39) |
I247V |
possibly damaging |
Het |
| Klri1 |
C |
T |
6: 129,680,510 (GRCm39) |
V91M |
possibly damaging |
Het |
| M1ap |
T |
A |
6: 82,945,061 (GRCm39) |
D118E |
probably damaging |
Het |
| Map4 |
T |
C |
9: 109,863,993 (GRCm39) |
V406A |
probably benign |
Het |
| Or5ac24 |
A |
T |
16: 59,165,579 (GRCm39) |
L162I |
probably damaging |
Het |
| Otud4 |
A |
G |
8: 80,370,435 (GRCm39) |
Y71C |
possibly damaging |
Het |
| Plcl1 |
A |
G |
1: 55,790,461 (GRCm39) |
N1044D |
probably benign |
Het |
| Ppp4r3b |
T |
A |
11: 29,155,639 (GRCm39) |
M114K |
probably benign |
Het |
| Prune1 |
T |
C |
3: 95,171,082 (GRCm39) |
D114G |
probably damaging |
Het |
| Rad54l2 |
A |
T |
9: 106,570,516 (GRCm39) |
V1268D |
probably benign |
Het |
| Rbbp6 |
A |
G |
7: 122,598,578 (GRCm39) |
|
probably benign |
Het |
| Rimbp3 |
A |
T |
16: 17,026,879 (GRCm39) |
E101V |
probably damaging |
Het |
| Rit1 |
C |
T |
3: 88,633,676 (GRCm39) |
|
probably null |
Het |
| Rsf1 |
GCG |
GCGACGGCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Homo |
| Shisa9 |
A |
G |
16: 11,802,892 (GRCm39) |
T150A |
probably damaging |
Het |
| Smpdl3a |
T |
C |
10: 57,678,533 (GRCm39) |
V112A |
probably damaging |
Het |
| Strada |
T |
A |
11: 106,055,733 (GRCm39) |
I305F |
probably damaging |
Het |
| Svep1 |
C |
T |
4: 58,049,146 (GRCm39) |
E3454K |
possibly damaging |
Het |
| Tfap2a |
T |
A |
13: 40,882,230 (GRCm39) |
N25I |
probably damaging |
Het |
| Tmem259 |
T |
C |
10: 79,813,422 (GRCm39) |
D519G |
possibly damaging |
Het |
| Tns1 |
T |
C |
1: 73,958,866 (GRCm39) |
Q445R |
probably damaging |
Het |
| Topbp1 |
A |
G |
9: 103,220,891 (GRCm39) |
D20G |
possibly damaging |
Het |
| Trbv5 |
G |
T |
6: 41,039,551 (GRCm39) |
W52L |
probably damaging |
Het |
| Trpc6 |
A |
T |
9: 8,634,058 (GRCm39) |
H379L |
probably damaging |
Het |
| Tulp1 |
T |
C |
17: 28,581,876 (GRCm39) |
K193E |
probably damaging |
Het |
| Unc80 |
T |
C |
1: 66,690,702 (GRCm39) |
V2459A |
probably benign |
Het |
| Vps50 |
T |
C |
6: 3,592,560 (GRCm39) |
V731A |
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 |
|
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 |
|
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'- GCTTCATTTGAACAAGGCGG -3'
(R):5'- AAACGACTCCATTTTACCTAGTACC -3'
Sequencing Primer
(F):5'- TCACTAAGCAATGGACGC -3'
(R):5'- TTTTACCTAGTACCTTAAAGAACCCC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation