Incidental Mutation 'R0714:Nedd4'
ID |
85914 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nedd4
|
Ensembl Gene |
ENSMUSG00000032216 |
Gene Name |
neural precursor cell expressed, developmentally down-regulated 4 |
Synonyms |
E430025J12Rik, Nedd4a, Nedd4, Nedd4-1 |
MMRRC Submission |
038897-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0714 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
72569628-72657134 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
G to A
at 72638728 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034740
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034740]
|
AlphaFold |
P46935 |
PDB Structure |
Crystal structure of the Nedd4 C2/Grb10 SH2 complex [X-RAY DIFFRACTION]
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000034740
|
SMART Domains |
Protein: ENSMUSP00000034740 Gene: ENSMUSG00000032216
Domain | Start | End | E-Value | Type |
C2
|
79 |
181 |
5.38e-21 |
SMART |
WW
|
250 |
282 |
2.32e-13 |
SMART |
low complexity region
|
283 |
293 |
N/A |
INTRINSIC |
WW
|
406 |
438 |
1.31e-12 |
SMART |
WW
|
461 |
493 |
1.26e-14 |
SMART |
HECTc
|
550 |
886 |
2.37e-194 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194508
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.5%
|
Validation Efficiency |
100% (52/52) |
MGI Phenotype |
PHENOTYPE: Homozygous mutation of this gene results in neonatal lethality and heterozygous mice have decreased body weights. Mice homozygous for a knockout allele exhibit impaired neurite development. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd17b |
G |
A |
19: 21,655,973 (GRCm39) |
R85H |
probably damaging |
Het |
Adamts13 |
A |
G |
2: 26,876,997 (GRCm39) |
|
probably benign |
Het |
Alb |
T |
C |
5: 90,610,665 (GRCm39) |
S82P |
possibly damaging |
Het |
Arhgap10 |
G |
A |
8: 78,078,316 (GRCm39) |
|
probably benign |
Het |
Aspscr1 |
T |
A |
11: 120,594,493 (GRCm39) |
|
probably null |
Het |
Capn3 |
A |
T |
2: 120,322,361 (GRCm39) |
Q359L |
probably benign |
Het |
Ccdc110 |
A |
T |
8: 46,396,047 (GRCm39) |
D646V |
possibly damaging |
Het |
Ccr2 |
G |
A |
9: 123,905,966 (GRCm39) |
G82D |
probably benign |
Het |
Col6a4 |
A |
G |
9: 105,895,102 (GRCm39) |
|
probably benign |
Het |
Dhx29 |
T |
C |
13: 113,064,499 (GRCm39) |
V58A |
possibly damaging |
Het |
Dhx35 |
C |
A |
2: 158,686,103 (GRCm39) |
Q593K |
probably benign |
Het |
Dmd |
T |
C |
X: 83,353,503 (GRCm39) |
L2240P |
probably benign |
Het |
Emc7 |
A |
G |
2: 112,293,277 (GRCm39) |
N162S |
possibly damaging |
Het |
Exoc7 |
A |
T |
11: 116,184,120 (GRCm39) |
N483K |
probably benign |
Het |
Fbxo34 |
T |
C |
14: 47,767,486 (GRCm39) |
V282A |
probably damaging |
Het |
Fndc3c1 |
A |
T |
X: 105,468,972 (GRCm39) |
Y1087* |
probably null |
Het |
Kat2a |
A |
G |
11: 100,602,178 (GRCm39) |
V192A |
probably damaging |
Het |
Larp7 |
T |
C |
3: 127,340,833 (GRCm39) |
D64G |
probably damaging |
Het |
Lnx1 |
A |
G |
5: 74,768,570 (GRCm39) |
|
probably benign |
Het |
Mib2 |
C |
T |
4: 155,743,917 (GRCm39) |
G42S |
probably damaging |
Het |
Nckipsd |
C |
A |
9: 108,691,333 (GRCm39) |
|
probably benign |
Het |
Ndufab1 |
A |
G |
7: 121,695,960 (GRCm39) |
|
probably benign |
Het |
Nrsn2 |
G |
A |
2: 152,216,042 (GRCm39) |
R54* |
probably null |
Het |
Nt5dc3 |
T |
A |
10: 86,648,238 (GRCm39) |
V171E |
probably damaging |
Het |
Nudt8 |
A |
G |
19: 4,052,023 (GRCm39) |
*211W |
probably null |
Het |
Nxph4 |
A |
G |
10: 127,362,808 (GRCm39) |
S28P |
probably damaging |
Het |
Or4f14b |
A |
G |
2: 111,774,898 (GRCm39) |
V301A |
probably benign |
Het |
Or8k17 |
A |
C |
2: 86,066,498 (GRCm39) |
L227R |
probably damaging |
Het |
Or9g4b |
A |
G |
2: 85,616,743 (GRCm39) |
D296G |
probably damaging |
Het |
Pcdhb15 |
A |
G |
18: 37,607,674 (GRCm39) |
Y302C |
probably damaging |
Het |
Pkdrej |
A |
G |
15: 85,699,712 (GRCm39) |
S2075P |
possibly damaging |
Het |
Sdhc |
A |
T |
1: 170,957,488 (GRCm39) |
|
probably benign |
Het |
Sidt2 |
A |
G |
9: 45,858,358 (GRCm39) |
|
probably benign |
Het |
Sik2 |
T |
C |
9: 50,818,736 (GRCm39) |
M413V |
probably benign |
Het |
Slc5a4b |
A |
G |
10: 75,917,341 (GRCm39) |
F232L |
probably benign |
Het |
Slx1b |
A |
T |
7: 126,291,620 (GRCm39) |
I148N |
probably damaging |
Het |
Spag17 |
C |
G |
3: 99,987,472 (GRCm39) |
S1587R |
probably damaging |
Het |
St13 |
T |
C |
15: 81,267,228 (GRCm39) |
D74G |
probably benign |
Het |
St7l |
G |
A |
3: 104,782,244 (GRCm39) |
R207H |
probably benign |
Het |
Syne2 |
AGAGTGAG |
AGAGTGAGTGAG |
12: 76,144,734 (GRCm39) |
|
probably null |
Het |
Tacc3 |
T |
C |
5: 33,828,741 (GRCm39) |
|
probably benign |
Het |
Tbx22 |
G |
A |
X: 106,728,731 (GRCm39) |
V421I |
probably benign |
Het |
Tmc3 |
G |
A |
7: 83,265,969 (GRCm39) |
A705T |
possibly damaging |
Het |
Tmem130 |
C |
T |
5: 144,674,619 (GRCm39) |
V369M |
probably damaging |
Het |
Tonsl |
T |
C |
15: 76,517,921 (GRCm39) |
|
probably benign |
Het |
Trpm6 |
T |
A |
19: 18,815,451 (GRCm39) |
I1179N |
possibly damaging |
Het |
Ttc13 |
A |
T |
8: 125,401,105 (GRCm39) |
S624T |
probably damaging |
Het |
Utp23 |
T |
G |
15: 51,745,665 (GRCm39) |
V55G |
possibly damaging |
Het |
Vps11 |
A |
G |
9: 44,270,953 (GRCm39) |
V143A |
possibly damaging |
Het |
Vps50 |
G |
T |
6: 3,571,105 (GRCm39) |
V618F |
probably benign |
Het |
|
Other mutations in Nedd4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00332:Nedd4
|
APN |
9 |
72,642,371 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00573:Nedd4
|
APN |
9 |
72,593,338 (GRCm39) |
splice site |
probably null |
|
IGL01973:Nedd4
|
APN |
9 |
72,644,216 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL02177:Nedd4
|
APN |
9 |
72,654,439 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03082:Nedd4
|
APN |
9 |
72,584,676 (GRCm39) |
critical splice donor site |
probably null |
|
Evaporation
|
UTSW |
9 |
72,593,377 (GRCm39) |
missense |
probably damaging |
1.00 |
Reduction
|
UTSW |
9 |
72,638,553 (GRCm39) |
missense |
possibly damaging |
0.49 |
Snookie
|
UTSW |
9 |
72,632,346 (GRCm39) |
missense |
probably benign |
0.04 |
Sublimation
|
UTSW |
9 |
72,584,661 (GRCm39) |
nonsense |
probably null |
|
R0194:Nedd4
|
UTSW |
9 |
72,577,335 (GRCm39) |
missense |
possibly damaging |
0.72 |
R1331:Nedd4
|
UTSW |
9 |
72,584,668 (GRCm39) |
missense |
probably damaging |
1.00 |
R1633:Nedd4
|
UTSW |
9 |
72,578,539 (GRCm39) |
missense |
possibly damaging |
0.50 |
R1764:Nedd4
|
UTSW |
9 |
72,638,189 (GRCm39) |
missense |
probably damaging |
0.99 |
R2192:Nedd4
|
UTSW |
9 |
72,650,000 (GRCm39) |
missense |
probably damaging |
0.99 |
R2196:Nedd4
|
UTSW |
9 |
72,632,356 (GRCm39) |
missense |
possibly damaging |
0.77 |
R2220:Nedd4
|
UTSW |
9 |
72,643,989 (GRCm39) |
missense |
probably damaging |
1.00 |
R2850:Nedd4
|
UTSW |
9 |
72,632,356 (GRCm39) |
missense |
possibly damaging |
0.77 |
R2994:Nedd4
|
UTSW |
9 |
72,638,185 (GRCm39) |
missense |
probably benign |
0.04 |
R3040:Nedd4
|
UTSW |
9 |
72,577,243 (GRCm39) |
missense |
probably benign |
|
R3697:Nedd4
|
UTSW |
9 |
72,647,469 (GRCm39) |
missense |
probably damaging |
1.00 |
R3884:Nedd4
|
UTSW |
9 |
72,632,359 (GRCm39) |
missense |
probably benign |
0.16 |
R4475:Nedd4
|
UTSW |
9 |
72,578,521 (GRCm39) |
nonsense |
probably null |
|
R4476:Nedd4
|
UTSW |
9 |
72,578,521 (GRCm39) |
nonsense |
probably null |
|
R4883:Nedd4
|
UTSW |
9 |
72,647,515 (GRCm39) |
splice site |
probably null |
|
R5066:Nedd4
|
UTSW |
9 |
72,617,801 (GRCm39) |
missense |
probably damaging |
1.00 |
R5947:Nedd4
|
UTSW |
9 |
72,638,132 (GRCm39) |
intron |
probably benign |
|
R5974:Nedd4
|
UTSW |
9 |
72,650,920 (GRCm39) |
critical splice donor site |
probably null |
|
R6247:Nedd4
|
UTSW |
9 |
72,633,720 (GRCm39) |
missense |
probably damaging |
1.00 |
R6651:Nedd4
|
UTSW |
9 |
72,638,553 (GRCm39) |
missense |
possibly damaging |
0.49 |
R6661:Nedd4
|
UTSW |
9 |
72,593,377 (GRCm39) |
missense |
probably damaging |
1.00 |
R7170:Nedd4
|
UTSW |
9 |
72,577,381 (GRCm39) |
missense |
probably benign |
0.00 |
R7237:Nedd4
|
UTSW |
9 |
72,632,346 (GRCm39) |
missense |
probably benign |
0.04 |
R7653:Nedd4
|
UTSW |
9 |
72,650,910 (GRCm39) |
missense |
probably damaging |
1.00 |
R7772:Nedd4
|
UTSW |
9 |
72,584,608 (GRCm39) |
missense |
possibly damaging |
0.77 |
R7905:Nedd4
|
UTSW |
9 |
72,584,661 (GRCm39) |
nonsense |
probably null |
|
R8194:Nedd4
|
UTSW |
9 |
72,593,389 (GRCm39) |
missense |
probably damaging |
1.00 |
R8229:Nedd4
|
UTSW |
9 |
72,638,670 (GRCm39) |
missense |
probably benign |
0.00 |
R8422:Nedd4
|
UTSW |
9 |
72,649,964 (GRCm39) |
missense |
probably damaging |
0.99 |
R8487:Nedd4
|
UTSW |
9 |
72,577,321 (GRCm39) |
missense |
probably damaging |
0.98 |
R8733:Nedd4
|
UTSW |
9 |
72,633,766 (GRCm39) |
missense |
possibly damaging |
0.80 |
R8956:Nedd4
|
UTSW |
9 |
72,633,708 (GRCm39) |
missense |
probably benign |
0.03 |
R9261:Nedd4
|
UTSW |
9 |
72,584,656 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9447:Nedd4
|
UTSW |
9 |
72,577,381 (GRCm39) |
missense |
probably benign |
|
Z1088:Nedd4
|
UTSW |
9 |
72,577,360 (GRCm39) |
missense |
probably benign |
0.22 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTCCAATGACCTGGGACCCTTAC -3'
(R):5'- GTGTTACTTTAGCCTGCCTGGACTG -3'
Sequencing Primer
(F):5'- aaataaCCTGTACATCTAAGACCTGG -3'
(R):5'- GCAGGGTAAAAAGGCTTTCACA -3'
|
Posted On |
2013-11-18 |