Incidental Mutation 'R8194:Nedd4'
ID |
635352 |
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 |
067617-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8194 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
72569628-72657134 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 72593389 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 154
(N154S)
|
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 damaging
Transcript: ENSMUST00000034740
AA Change: N154S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000034740 Gene: ENSMUSG00000032216 AA Change: N154S
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 benign
Transcript: ENSMUST00000183375
|
SMART Domains |
Protein: ENSMUSP00000138852 Gene: ENSMUSG00000032216
Domain | Start | End | E-Value | Type |
C2
|
79 |
163 |
1.12e-9 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000184333
AA Change: N44S
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000139190 Gene: ENSMUSG00000032216 AA Change: N44S
Domain | Start | End | E-Value | Type |
C2
|
4 |
71 |
3.38e-4 |
SMART |
WW
|
140 |
172 |
2.32e-13 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000184450
AA Change: N154S
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000138983 Gene: ENSMUSG00000032216 AA Change: N154S
Domain | Start | End | E-Value | Type |
C2
|
79 |
181 |
5.38e-21 |
SMART |
WW
|
250 |
282 |
2.32e-13 |
SMART |
|
Meta Mutation Damage Score |
0.1121 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.1%
|
Validation Efficiency |
100% (51/51) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arid4a |
T |
A |
12: 71,106,889 (GRCm39) |
Y320* |
probably null |
Het |
Ash1l |
T |
A |
3: 88,960,062 (GRCm39) |
C2265S |
probably damaging |
Het |
Atg4b |
T |
A |
1: 93,713,694 (GRCm39) |
C55* |
probably null |
Het |
Cacna1s |
A |
T |
1: 136,005,430 (GRCm39) |
N405I |
probably benign |
Het |
Capn11 |
A |
T |
17: 45,944,325 (GRCm39) |
D526E |
probably damaging |
Het |
Ccdc188 |
A |
G |
16: 18,036,244 (GRCm39) |
R71G |
probably benign |
Het |
Ccser2 |
G |
A |
14: 36,618,220 (GRCm39) |
R772W |
probably damaging |
Het |
Cenpf |
T |
A |
1: 189,414,600 (GRCm39) |
E172D |
probably benign |
Het |
Cep85 |
T |
C |
4: 133,861,400 (GRCm39) |
M627V |
probably null |
Het |
Chd1 |
G |
A |
17: 17,594,737 (GRCm39) |
|
probably benign |
Het |
Cnst |
A |
G |
1: 179,437,759 (GRCm39) |
H441R |
probably benign |
Het |
Cyp2d11 |
G |
T |
15: 82,274,638 (GRCm39) |
T313N |
probably damaging |
Het |
Cyp2g1 |
A |
G |
7: 26,514,159 (GRCm39) |
N255S |
possibly damaging |
Het |
Dnah5 |
A |
G |
15: 28,453,414 (GRCm39) |
D4395G |
probably damaging |
Het |
Fam83h |
ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT |
ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT |
15: 75,874,624 (GRCm39) |
|
probably benign |
Het |
Fcnb |
C |
T |
2: 27,968,330 (GRCm39) |
S209N |
possibly damaging |
Het |
Gpsm1 |
CT |
CTT |
2: 26,217,364 (GRCm39) |
|
probably null |
Het |
Lama4 |
A |
G |
10: 38,954,716 (GRCm39) |
S1090G |
probably damaging |
Het |
Malrd1 |
A |
G |
2: 15,929,931 (GRCm39) |
D1479G |
unknown |
Het |
Man2a2 |
T |
C |
7: 80,010,766 (GRCm39) |
K742E |
probably benign |
Het |
Mapk8 |
A |
T |
14: 33,104,241 (GRCm39) |
S392T |
probably benign |
Het |
Mark3 |
T |
C |
12: 111,559,117 (GRCm39) |
I53T |
probably damaging |
Het |
Mcmdc2 |
A |
G |
1: 9,986,867 (GRCm39) |
I219V |
probably benign |
Het |
Mlycd |
A |
T |
8: 120,134,332 (GRCm39) |
E278V |
probably benign |
Het |
Muc2 |
G |
T |
7: 141,290,801 (GRCm39) |
C29F |
|
Het |
Mup20 |
T |
C |
4: 61,971,721 (GRCm39) |
I77V |
probably benign |
Het |
Myh3 |
A |
G |
11: 66,982,828 (GRCm39) |
E849G |
probably damaging |
Het |
Odad4 |
G |
A |
11: 100,454,502 (GRCm39) |
G429E |
probably benign |
Het |
Or1e1f |
A |
T |
11: 73,856,240 (GRCm39) |
I269F |
probably benign |
Het |
Pcdh7 |
A |
T |
5: 57,877,678 (GRCm39) |
N411I |
probably damaging |
Het |
Plekhm1 |
A |
G |
11: 103,285,886 (GRCm39) |
I183T |
possibly damaging |
Het |
Prkar2a |
G |
A |
9: 108,569,710 (GRCm39) |
V19M |
probably damaging |
Het |
Prss35 |
T |
G |
9: 86,637,666 (GRCm39) |
N145K |
possibly damaging |
Het |
Ranbp2 |
T |
A |
10: 58,291,747 (GRCm39) |
D251E |
possibly damaging |
Het |
Rnf169 |
C |
A |
7: 99,575,651 (GRCm39) |
V315F |
probably damaging |
Het |
Slc32a1 |
T |
C |
2: 158,455,761 (GRCm39) |
Y139H |
probably damaging |
Het |
Slc5a2 |
T |
C |
7: 127,870,328 (GRCm39) |
V522A |
probably benign |
Het |
Slc6a6 |
A |
T |
6: 91,717,952 (GRCm39) |
Q297L |
probably damaging |
Het |
Sos2 |
A |
C |
12: 69,645,598 (GRCm39) |
Y914D |
probably damaging |
Het |
Spata1 |
G |
T |
3: 146,195,614 (GRCm39) |
T32N |
possibly damaging |
Het |
Srcap |
C |
T |
7: 127,138,369 (GRCm39) |
R1180C |
probably damaging |
Het |
St14 |
A |
T |
9: 31,042,921 (GRCm39) |
M1K |
probably null |
Het |
Tcaf1 |
T |
C |
6: 42,652,236 (GRCm39) |
T749A |
probably benign |
Het |
Tcp1 |
T |
C |
17: 13,141,621 (GRCm39) |
|
probably null |
Het |
Tle6 |
A |
G |
10: 81,426,888 (GRCm39) |
V576A |
probably damaging |
Het |
Usp17lc |
T |
A |
7: 103,067,407 (GRCm39) |
M234K |
probably benign |
Het |
Washc4 |
A |
G |
10: 83,416,163 (GRCm39) |
I818V |
possibly damaging |
Het |
Zdhhc18 |
A |
G |
4: 133,341,165 (GRCm39) |
L236P |
probably damaging |
Het |
Zfp266 |
T |
C |
9: 20,411,610 (GRCm39) |
D189G |
probably benign |
Het |
Zfp474 |
A |
T |
18: 52,772,229 (GRCm39) |
D294V |
probably damaging |
Het |
Zfp568 |
T |
C |
7: 29,722,758 (GRCm39) |
F568L |
probably damaging |
Het |
Zfp93 |
A |
G |
7: 23,975,479 (GRCm39) |
K488R |
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 |
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 |
R7905:Nedd4
|
UTSW |
9 |
72,584,661 (GRCm39) |
nonsense |
probably null |
|
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'- AAGTGTGACTGTGGGTAACG -3'
(R):5'- GTCCTTCAGAACAGAATGGAATG -3'
Sequencing Primer
(F):5'- ACGTGAGTCTTGCCTATTCTTTG -3'
(R):5'- ATGGAATGGGAGGGTTAACTC -3'
|
Posted On |
2020-07-13 |