Incidental Mutation 'R2994:Nedd4'
| ID |
257146 |
| 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 |
040529-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2994 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
72569628-72657134 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 72638185 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 440
(D440G)
|
| 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
AA Change: D440G
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000034740
Gene: ENSMUSG00000032216
AA Change: D440G
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 94.9%
|
| Validation Efficiency |
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
T |
C |
17: 24,603,538 (GRCm39) |
S577P |
probably damaging |
Het |
| Agrn |
T |
C |
4: 156,251,785 (GRCm39) |
T1826A |
possibly damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Btnl6 |
C |
A |
17: 34,734,498 (GRCm39) |
R88I |
possibly damaging |
Het |
| Cfap52 |
T |
A |
11: 67,830,617 (GRCm39) |
Y281F |
probably benign |
Het |
| CK137956 |
T |
C |
4: 127,845,300 (GRCm39) |
T148A |
probably benign |
Het |
| Fpr3 |
C |
T |
17: 18,191,130 (GRCm39) |
Q134* |
probably null |
Het |
| Gbp4 |
A |
T |
5: 105,284,886 (GRCm39) |
M1K |
probably null |
Het |
| Gpsm1 |
G |
A |
2: 26,209,843 (GRCm39) |
|
probably benign |
Het |
| Nlgn1 |
C |
T |
3: 25,490,162 (GRCm39) |
D522N |
probably damaging |
Het |
| Oprk1 |
T |
C |
1: 5,672,955 (GRCm39) |
V364A |
probably benign |
Het |
| Or1e35 |
T |
C |
11: 73,797,541 (GRCm39) |
Y259C |
probably damaging |
Het |
| Or5d18 |
A |
G |
2: 87,865,301 (GRCm39) |
Y61H |
probably damaging |
Het |
| Polr1e |
T |
C |
4: 45,027,473 (GRCm39) |
|
probably null |
Het |
| Psmd11 |
T |
C |
11: 80,351,493 (GRCm39) |
Y239H |
probably damaging |
Het |
| Ripor2 |
A |
T |
13: 24,885,610 (GRCm39) |
D576V |
probably damaging |
Het |
| Rundc3a |
C |
T |
11: 102,291,489 (GRCm39) |
T327I |
probably damaging |
Het |
| Sh3rf1 |
A |
G |
8: 61,825,609 (GRCm39) |
T535A |
probably benign |
Het |
| Slc13a2 |
T |
A |
11: 78,295,563 (GRCm39) |
E101V |
probably damaging |
Het |
| Tg |
A |
T |
15: 66,553,802 (GRCm39) |
T406S |
probably benign |
Het |
| Tjp2 |
T |
C |
19: 24,090,215 (GRCm39) |
E609G |
probably damaging |
Het |
| Zfp459 |
G |
A |
13: 67,556,853 (GRCm39) |
P77S |
possibly damaging |
Het |
| Zfp612 |
A |
G |
8: 110,816,049 (GRCm39) |
K380E |
probably damaging |
Het |
| Zfp629 |
T |
C |
7: 127,210,228 (GRCm39) |
E527G |
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 |
|
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'- CTTCCAGAAGTAGAAATAAGTCACAAG -3'
(R):5'- TTAGTACCAGGTCTTAGATGTACAGG -3'
Sequencing Primer
(F):5'- GCTGTGAGCTCTTGTCTCAAAAAGC -3'
(R):5'- TGTACATAACACTTAAAACGAAAGGC -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation