Incidental Mutation 'R8229:Nedd4'
ID |
640951 |
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 |
067645-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8229 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
72569628-72657134 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 72638670 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 485
(K485N)
|
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: K485N
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000034740 Gene: ENSMUSG00000032216 AA Change: K485N
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 |
|
Meta Mutation Damage Score |
0.0846 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.8%
|
Validation Efficiency |
100% (41/41) |
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam3 |
A |
T |
8: 25,201,754 (GRCm39) |
M203K |
probably damaging |
Het |
Arhgap23 |
G |
A |
11: 97,344,732 (GRCm39) |
V565I |
probably benign |
Het |
D6Wsu163e |
G |
T |
6: 126,943,966 (GRCm39) |
R454L |
probably benign |
Het |
Def6 |
A |
G |
17: 28,436,729 (GRCm39) |
D131G |
probably damaging |
Het |
Erc1 |
T |
C |
6: 119,730,249 (GRCm39) |
T616A |
probably benign |
Het |
Ermard |
T |
A |
17: 15,279,596 (GRCm39) |
|
probably benign |
Het |
Fsip2 |
T |
C |
2: 82,808,487 (GRCm39) |
L1602P |
possibly damaging |
Het |
Gli1 |
C |
T |
10: 127,168,317 (GRCm39) |
R512Q |
possibly damaging |
Het |
Gm6034 |
A |
G |
17: 36,367,268 (GRCm39) |
T38A |
unknown |
Het |
H2-M10.1 |
T |
C |
17: 36,634,931 (GRCm39) |
I325V |
probably benign |
Het |
Inf2 |
A |
G |
12: 112,578,030 (GRCm39) |
D1107G |
unknown |
Het |
Iws1 |
A |
G |
18: 32,217,740 (GRCm39) |
N448S |
probably benign |
Het |
Klhl24 |
T |
C |
16: 19,933,321 (GRCm39) |
Y311H |
possibly damaging |
Het |
Lama3 |
C |
T |
18: 12,540,608 (GRCm39) |
A304V |
probably benign |
Het |
Limch1 |
A |
G |
5: 67,186,138 (GRCm39) |
E646G |
probably damaging |
Het |
Lrrc8c |
T |
A |
5: 105,754,402 (GRCm39) |
V59E |
probably benign |
Het |
Lrrn4 |
G |
A |
2: 132,711,807 (GRCm39) |
T672I |
probably damaging |
Het |
Magi3 |
C |
A |
3: 103,923,017 (GRCm39) |
E1233D |
possibly damaging |
Het |
Magi3 |
T |
C |
3: 103,923,018 (GRCm39) |
E1233G |
probably benign |
Het |
Mgat5b |
A |
T |
11: 116,838,213 (GRCm39) |
K284M |
probably benign |
Het |
Or4c114 |
T |
A |
2: 88,905,382 (GRCm39) |
N18Y |
possibly damaging |
Het |
Or5b101 |
A |
G |
19: 13,005,561 (GRCm39) |
I44T |
possibly damaging |
Het |
Or5p57 |
C |
T |
7: 107,665,794 (GRCm39) |
M70I |
probably benign |
Het |
Or5w17 |
A |
T |
2: 87,583,408 (GRCm39) |
C310S |
probably benign |
Het |
Otud4 |
A |
G |
8: 80,400,604 (GRCm39) |
H1106R |
unknown |
Het |
Pcdha7 |
C |
A |
18: 37,107,776 (GRCm39) |
S267* |
probably null |
Het |
Pcdhb11 |
A |
G |
18: 37,555,671 (GRCm39) |
I334V |
probably benign |
Het |
Phf11b |
A |
T |
14: 59,568,730 (GRCm39) |
L61Q |
probably damaging |
Het |
Prepl |
T |
C |
17: 85,388,689 (GRCm39) |
D138G |
probably benign |
Het |
Sipa1l1 |
T |
C |
12: 82,484,622 (GRCm39) |
V1592A |
probably damaging |
Het |
Smc6 |
T |
A |
12: 11,341,673 (GRCm39) |
S564T |
probably benign |
Het |
Spty2d1 |
A |
G |
7: 46,647,522 (GRCm39) |
V469A |
probably benign |
Het |
Trim11 |
G |
A |
11: 58,872,167 (GRCm39) |
|
probably benign |
Het |
Ttll7 |
T |
A |
3: 146,607,204 (GRCm39) |
I158K |
probably damaging |
Het |
Ugt3a1 |
A |
G |
15: 9,367,463 (GRCm39) |
E402G |
probably damaging |
Het |
Usp33 |
T |
C |
3: 152,075,929 (GRCm39) |
V383A |
probably benign |
Het |
Ythdc1 |
A |
G |
5: 86,957,167 (GRCm39) |
|
probably benign |
Het |
Ywhab |
T |
G |
2: 163,856,015 (GRCm39) |
Y130* |
probably null |
Het |
Zfp609 |
T |
C |
9: 65,610,782 (GRCm39) |
K727R |
possibly damaging |
Het |
Zscan30 |
A |
C |
18: 24,104,737 (GRCm39) |
L37R |
noncoding transcript |
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 |
|
R8194:Nedd4
|
UTSW |
9 |
72,593,389 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- GAATGTTTCCTTACAGCCAGGC -3'
(R):5'- ACTTTAGCCTGCCTGGACTG -3'
Sequencing Primer
(F):5'- CAGGCTGGGAAGAAAGAACCC -3'
(R):5'- AGCCCTGACTGCTTCTGG -3'
|
Posted On |
2020-07-28 |