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 |
Nedd4, Nedd4-1, Nedd4a |
| 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 |
72662346-72749852 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 72686107 bp (GRCm38)
|
| 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: 71,060,115 (GRCm38) |
Y320* |
probably null |
Het |
| Ash1l |
T |
A |
3: 89,052,755 (GRCm38) |
C2265S |
probably damaging |
Het |
| Atg4b |
T |
A |
1: 93,785,972 (GRCm38) |
C55* |
probably null |
Het |
| Cacna1s |
A |
T |
1: 136,077,692 (GRCm38) |
N405I |
probably benign |
Het |
| Capn11 |
A |
T |
17: 45,633,399 (GRCm38) |
D526E |
probably damaging |
Het |
| Ccdc188 |
A |
G |
16: 18,218,380 (GRCm38) |
R71G |
probably benign |
Het |
| Ccser2 |
G |
A |
14: 36,896,263 (GRCm38) |
R772W |
probably damaging |
Het |
| Cenpf |
T |
A |
1: 189,682,403 (GRCm38) |
E172D |
probably benign |
Het |
| Cep85 |
T |
C |
4: 134,134,089 (GRCm38) |
M627V |
probably null |
Het |
| Chd1 |
G |
A |
17: 17,374,475 (GRCm38) |
|
probably benign |
Het |
| Cnst |
A |
G |
1: 179,610,194 (GRCm38) |
H441R |
probably benign |
Het |
| Cyp2d11 |
G |
T |
15: 82,390,437 (GRCm38) |
T313N |
probably damaging |
Het |
| Cyp2g1 |
A |
G |
7: 26,814,734 (GRCm38) |
N255S |
possibly damaging |
Het |
| Dnah5 |
A |
G |
15: 28,453,268 (GRCm38) |
D4395G |
probably damaging |
Het |
| Fam83h |
ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT |
ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT |
15: 76,002,775 (GRCm38) |
|
probably benign |
Het |
| Fcnb |
C |
T |
2: 28,078,318 (GRCm38) |
S209N |
possibly damaging |
Het |
| Gpsm1 |
CT |
CTT |
2: 26,327,352 (GRCm38) |
|
probably null |
Het |
| Lama4 |
A |
G |
10: 39,078,720 (GRCm38) |
S1090G |
probably damaging |
Het |
| Malrd1 |
A |
G |
2: 15,925,120 (GRCm38) |
D1479G |
unknown |
Het |
| Man2a2 |
T |
C |
7: 80,361,018 (GRCm38) |
K742E |
probably benign |
Het |
| Mapk8 |
A |
T |
14: 33,382,284 (GRCm38) |
S392T |
probably benign |
Het |
| Mark3 |
T |
C |
12: 111,592,683 (GRCm38) |
I53T |
probably damaging |
Het |
| Mcmdc2 |
A |
G |
1: 9,916,642 (GRCm38) |
I219V |
probably benign |
Het |
| Mlycd |
A |
T |
8: 119,407,593 (GRCm38) |
E278V |
probably benign |
Het |
| Muc2 |
G |
T |
7: 141,704,252 (GRCm38) |
C29F |
|
Het |
| Mup20 |
T |
C |
4: 62,053,484 (GRCm38) |
I77V |
probably benign |
Het |
| Myh3 |
A |
G |
11: 67,092,002 (GRCm38) |
E849G |
probably damaging |
Het |
| Olfr397 |
A |
T |
11: 73,965,414 (GRCm38) |
I269F |
probably benign |
Het |
| Pcdh7 |
A |
T |
5: 57,720,336 (GRCm38) |
N411I |
probably damaging |
Het |
| Plekhm1 |
A |
G |
11: 103,395,060 (GRCm38) |
I183T |
possibly damaging |
Het |
| Prkar2a |
G |
A |
9: 108,692,511 (GRCm38) |
V19M |
probably damaging |
Het |
| Prss35 |
T |
G |
9: 86,755,613 (GRCm38) |
N145K |
possibly damaging |
Het |
| Ranbp2 |
T |
A |
10: 58,455,925 (GRCm38) |
D251E |
possibly damaging |
Het |
| Rnf169 |
C |
A |
7: 99,926,444 (GRCm38) |
V315F |
probably damaging |
Het |
| Slc32a1 |
T |
C |
2: 158,613,841 (GRCm38) |
Y139H |
probably damaging |
Het |
| Slc5a2 |
T |
C |
7: 128,271,156 (GRCm38) |
V522A |
probably benign |
Het |
| Slc6a6 |
A |
T |
6: 91,740,971 (GRCm38) |
Q297L |
probably damaging |
Het |
| Sos2 |
A |
C |
12: 69,598,824 (GRCm38) |
Y914D |
probably damaging |
Het |
| Spata1 |
G |
T |
3: 146,489,859 (GRCm38) |
T32N |
possibly damaging |
Het |
| Srcap |
C |
T |
7: 127,539,197 (GRCm38) |
R1180C |
probably damaging |
Het |
| St14 |
A |
T |
9: 31,131,625 (GRCm38) |
M1K |
probably null |
Het |
| Tcaf1 |
T |
C |
6: 42,675,302 (GRCm38) |
T749A |
probably benign |
Het |
| Tcp1 |
T |
C |
17: 12,922,734 (GRCm38) |
|
probably null |
Het |
| Tle6 |
A |
G |
10: 81,591,054 (GRCm38) |
V576A |
probably damaging |
Het |
| Ttc25 |
G |
A |
11: 100,563,676 (GRCm38) |
G429E |
probably benign |
Het |
| Usp17lc |
T |
A |
7: 103,418,200 (GRCm38) |
M234K |
probably benign |
Het |
| Washc4 |
A |
G |
10: 83,580,299 (GRCm38) |
I818V |
possibly damaging |
Het |
| Zdhhc18 |
A |
G |
4: 133,613,854 (GRCm38) |
L236P |
probably damaging |
Het |
| Zfp266 |
T |
C |
9: 20,500,314 (GRCm38) |
D189G |
probably benign |
Het |
| Zfp474 |
A |
T |
18: 52,639,157 (GRCm38) |
D294V |
probably damaging |
Het |
| Zfp568 |
T |
C |
7: 30,023,333 (GRCm38) |
F568L |
probably damaging |
Het |
| Zfp93 |
A |
G |
7: 24,276,054 (GRCm38) |
K488R |
probably benign |
Het |
|
| Other mutations in Nedd4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00332:Nedd4
|
APN |
9 |
72,735,089 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00573:Nedd4
|
APN |
9 |
72,686,056 (GRCm38) |
splice site |
probably null |
|
|
IGL01973:Nedd4
|
APN |
9 |
72,736,934 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
IGL02177:Nedd4
|
APN |
9 |
72,747,157 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03082:Nedd4
|
APN |
9 |
72,677,394 (GRCm38) |
critical splice donor site |
probably null |
|
|
Evaporation
|
UTSW |
9 |
72,686,095 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Reduction
|
UTSW |
9 |
72,731,271 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
Snookie
|
UTSW |
9 |
72,725,064 (GRCm38) |
missense |
probably benign |
0.04 |
|
Sublimation
|
UTSW |
9 |
72,677,379 (GRCm38) |
nonsense |
probably null |
|
|
R0194:Nedd4
|
UTSW |
9 |
72,670,053 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R0714:Nedd4
|
UTSW |
9 |
72,731,446 (GRCm38) |
splice site |
probably benign |
|
|
R1331:Nedd4
|
UTSW |
9 |
72,677,386 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1633:Nedd4
|
UTSW |
9 |
72,671,257 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R1764:Nedd4
|
UTSW |
9 |
72,730,907 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2192:Nedd4
|
UTSW |
9 |
72,742,718 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2196:Nedd4
|
UTSW |
9 |
72,725,074 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R2220:Nedd4
|
UTSW |
9 |
72,736,707 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2850:Nedd4
|
UTSW |
9 |
72,725,074 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R2994:Nedd4
|
UTSW |
9 |
72,730,903 (GRCm38) |
missense |
probably benign |
0.04 |
|
R3040:Nedd4
|
UTSW |
9 |
72,669,961 (GRCm38) |
missense |
probably benign |
|
|
R3697:Nedd4
|
UTSW |
9 |
72,740,187 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3884:Nedd4
|
UTSW |
9 |
72,725,077 (GRCm38) |
missense |
probably benign |
0.16 |
|
R4475:Nedd4
|
UTSW |
9 |
72,671,239 (GRCm38) |
nonsense |
probably null |
|
|
R4476:Nedd4
|
UTSW |
9 |
72,671,239 (GRCm38) |
nonsense |
probably null |
|
|
R4883:Nedd4
|
UTSW |
9 |
72,740,233 (GRCm38) |
splice site |
probably null |
|
|
R5066:Nedd4
|
UTSW |
9 |
72,710,519 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5947:Nedd4
|
UTSW |
9 |
72,730,850 (GRCm38) |
intron |
probably benign |
|
|
R5974:Nedd4
|
UTSW |
9 |
72,743,638 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6247:Nedd4
|
UTSW |
9 |
72,726,438 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6651:Nedd4
|
UTSW |
9 |
72,731,271 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R6661:Nedd4
|
UTSW |
9 |
72,686,095 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7170:Nedd4
|
UTSW |
9 |
72,670,099 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7237:Nedd4
|
UTSW |
9 |
72,725,064 (GRCm38) |
missense |
probably benign |
0.04 |
|
R7653:Nedd4
|
UTSW |
9 |
72,743,628 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7772:Nedd4
|
UTSW |
9 |
72,677,326 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R7905:Nedd4
|
UTSW |
9 |
72,677,379 (GRCm38) |
nonsense |
probably null |
|
|
R8229:Nedd4
|
UTSW |
9 |
72,731,388 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8422:Nedd4
|
UTSW |
9 |
72,742,682 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8487:Nedd4
|
UTSW |
9 |
72,670,039 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8733:Nedd4
|
UTSW |
9 |
72,726,484 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R8956:Nedd4
|
UTSW |
9 |
72,726,426 (GRCm38) |
missense |
probably benign |
0.03 |
|
R9261:Nedd4
|
UTSW |
9 |
72,677,374 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R9447:Nedd4
|
UTSW |
9 |
72,670,099 (GRCm38) |
missense |
probably benign |
|
|
Z1088:Nedd4
|
UTSW |
9 |
72,670,078 (GRCm38) |
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 |
Incidental Mutation