Incidental Mutation 'R7905:Nedd4'
ID |
610223 |
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 |
045957-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7905 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
72569628-72657134 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 72584661 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Stop codon
at position 121
(K121*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034740
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034740]
[ENSMUST00000183375]
[ENSMUST00000184333]
[ENSMUST00000184450]
|
AlphaFold |
P46935 |
PDB Structure |
Crystal structure of the Nedd4 C2/Grb10 SH2 complex [X-RAY DIFFRACTION]
|
Predicted Effect |
probably null
Transcript: ENSMUST00000034740
AA Change: K121*
|
SMART Domains |
Protein: ENSMUSP00000034740 Gene: ENSMUSG00000032216 AA Change: K121*
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 |
probably null
Transcript: ENSMUST00000183375
AA Change: K121*
|
SMART Domains |
Protein: ENSMUSP00000138852 Gene: ENSMUSG00000032216 AA Change: K121*
Domain | Start | End | E-Value | Type |
C2
|
79 |
163 |
1.12e-9 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000184333
AA Change: K11*
|
SMART Domains |
Protein: ENSMUSP00000139190 Gene: ENSMUSG00000032216 AA Change: K11*
Domain | Start | End | E-Value | Type |
C2
|
4 |
71 |
3.38e-4 |
SMART |
WW
|
140 |
172 |
2.32e-13 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000184450
AA Change: K121*
|
SMART Domains |
Protein: ENSMUSP00000138983 Gene: ENSMUSG00000032216 AA Change: K121*
Domain | Start | End | E-Value | Type |
C2
|
79 |
181 |
5.38e-21 |
SMART |
WW
|
250 |
282 |
2.32e-13 |
SMART |
|
Meta Mutation Damage Score |
0.9756 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (44/44) |
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actl9 |
T |
C |
17: 33,652,801 (GRCm39) |
V287A |
possibly damaging |
Het |
Adcy10 |
T |
A |
1: 165,340,737 (GRCm39) |
|
probably null |
Het |
Aox1 |
G |
A |
1: 58,143,557 (GRCm39) |
S1225N |
possibly damaging |
Het |
B430306N03Rik |
T |
A |
17: 48,623,988 (GRCm39) |
S96R |
probably benign |
Het |
Bpifa5 |
T |
C |
2: 154,007,508 (GRCm39) |
I150T |
probably damaging |
Het |
Ccdc28a |
A |
T |
10: 18,094,076 (GRCm39) |
V181D |
probably benign |
Het |
Cd40 |
T |
C |
2: 164,904,245 (GRCm39) |
Y31H |
probably damaging |
Het |
Cep290 |
A |
G |
10: 100,390,352 (GRCm39) |
T2032A |
probably benign |
Het |
Cnbd1 |
T |
C |
4: 18,907,100 (GRCm39) |
K158R |
possibly damaging |
Het |
Degs1 |
A |
C |
1: 182,106,601 (GRCm39) |
N255K |
possibly damaging |
Het |
Dll3 |
T |
G |
7: 28,000,960 (GRCm39) |
I32L |
possibly damaging |
Het |
Dsg4 |
A |
T |
18: 20,587,726 (GRCm39) |
I278F |
probably damaging |
Het |
Ets2 |
T |
A |
16: 95,507,304 (GRCm39) |
I6N |
probably damaging |
Het |
Gbp4 |
A |
G |
5: 105,268,953 (GRCm39) |
F400S |
probably damaging |
Het |
Golgb1 |
C |
T |
16: 36,734,047 (GRCm39) |
A1139V |
probably benign |
Het |
Hfm1 |
A |
T |
5: 107,046,419 (GRCm39) |
L489H |
probably damaging |
Het |
Kcna5 |
T |
C |
6: 126,511,831 (GRCm39) |
D99G |
probably benign |
Het |
Ldhc |
A |
G |
7: 46,524,955 (GRCm39) |
|
probably null |
Het |
Mief1 |
C |
G |
15: 80,133,599 (GRCm39) |
P219A |
probably damaging |
Het |
Myh11 |
A |
T |
16: 14,025,545 (GRCm39) |
Y1408* |
probably null |
Het |
Myo1b |
A |
G |
1: 51,803,043 (GRCm39) |
|
probably null |
Het |
Nek9 |
A |
C |
12: 85,352,370 (GRCm39) |
M831R |
probably damaging |
Het |
Nf1 |
G |
A |
11: 79,437,938 (GRCm39) |
A83T |
possibly damaging |
Het |
Or6c203 |
A |
T |
10: 129,010,056 (GRCm39) |
I278N |
probably damaging |
Het |
Osbpl10 |
T |
C |
9: 114,891,078 (GRCm39) |
|
probably null |
Het |
Pcdhb6 |
T |
C |
18: 37,467,607 (GRCm39) |
L176P |
probably benign |
Het |
Plxnb1 |
G |
A |
9: 108,938,300 (GRCm39) |
V1285M |
probably damaging |
Het |
Psg26 |
T |
A |
7: 18,209,242 (GRCm39) |
M389L |
probably benign |
Het |
Slc49a4 |
G |
A |
16: 35,589,320 (GRCm39) |
P98S |
probably benign |
Het |
Slc4a10 |
A |
G |
2: 62,098,495 (GRCm39) |
E543G |
probably damaging |
Het |
Spata31h1 |
A |
G |
10: 82,131,936 (GRCm39) |
I358T |
probably benign |
Het |
Spink7 |
G |
T |
18: 62,725,487 (GRCm39) |
C85* |
probably null |
Het |
Stard9 |
T |
C |
2: 120,526,562 (GRCm39) |
W940R |
not run |
Het |
Susd2 |
A |
T |
10: 75,475,491 (GRCm39) |
L471* |
probably null |
Het |
Taf2 |
A |
T |
15: 54,910,828 (GRCm39) |
D615E |
possibly damaging |
Het |
Taf4 |
G |
A |
2: 179,573,822 (GRCm39) |
T682M |
probably damaging |
Het |
Tfdp2 |
T |
C |
9: 96,192,659 (GRCm39) |
S14P |
|
Het |
Tha1 |
A |
C |
11: 117,761,893 (GRCm39) |
V116G |
possibly damaging |
Het |
Trim46 |
T |
C |
3: 89,151,633 (GRCm39) |
H50R |
probably damaging |
Het |
Trit1 |
A |
G |
4: 122,910,508 (GRCm39) |
K36E |
probably damaging |
Het |
Ttc13 |
A |
T |
8: 125,415,335 (GRCm39) |
M268K |
probably benign |
Het |
Ufc1 |
T |
A |
1: 171,117,508 (GRCm39) |
K68N |
probably damaging |
Het |
Zbbx |
T |
C |
3: 74,992,820 (GRCm39) |
T225A |
probably benign |
Het |
Zfp768 |
T |
C |
7: 126,943,831 (GRCm39) |
E102G |
probably damaging |
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 |
R0714:Nedd4
|
UTSW |
9 |
72,638,728 (GRCm39) |
splice site |
probably benign |
|
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 |
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'- ATCTTTGGTCATTCTACAGATGTGG -3'
(R):5'- CCCTCTAGGCACATTTCAAAGTG -3'
Sequencing Primer
(F):5'- CCTGGTTTTTAGGGTACAAAGC -3'
(R):5'- CTTACCCTGAACAGTATTTCT -3'
|
Posted On |
2019-12-20 |