Incidental Mutation 'R2196:Nedd4'
ID |
238366 |
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 |
040198-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2196 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
72569628-72657134 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 72632356 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Phenylalanine
at position 397
(L397F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034740
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034740]
[ENSMUST00000184333]
[ENSMUST00000184450]
|
AlphaFold |
P46935 |
PDB Structure |
Crystal structure of the Nedd4 C2/Grb10 SH2 complex [X-RAY DIFFRACTION]
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034740
AA Change: L397F
PolyPhen 2
Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000034740 Gene: ENSMUSG00000032216 AA Change: L397F
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: ENSMUST00000184333
|
SMART Domains |
Protein: ENSMUSP00000139190 Gene: ENSMUSG00000032216
Domain | Start | End | E-Value | Type |
C2
|
4 |
71 |
3.38e-4 |
SMART |
WW
|
140 |
172 |
2.32e-13 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000184450
|
SMART Domains |
Protein: ENSMUSP00000138983 Gene: ENSMUSG00000032216
Domain | Start | End | E-Value | Type |
C2
|
79 |
181 |
5.38e-21 |
SMART |
WW
|
250 |
282 |
2.32e-13 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194508
|
Meta Mutation Damage Score |
0.0934 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actn2 |
T |
A |
13: 12,290,065 (GRCm39) |
T734S |
probably damaging |
Het |
Acvr2a |
A |
T |
2: 48,760,324 (GRCm39) |
T27S |
possibly damaging |
Het |
Ankhd1 |
T |
A |
18: 36,781,432 (GRCm39) |
N2161K |
probably damaging |
Het |
Apba3 |
A |
G |
10: 81,107,542 (GRCm39) |
Y350C |
probably damaging |
Het |
Bnipl |
T |
A |
3: 95,157,181 (GRCm39) |
R47S |
possibly damaging |
Het |
Cacna1b |
C |
T |
2: 24,651,800 (GRCm39) |
M126I |
probably damaging |
Het |
Cep112 |
G |
A |
11: 108,461,187 (GRCm39) |
E329K |
probably damaging |
Het |
Cep55 |
T |
A |
19: 38,057,558 (GRCm39) |
Y187N |
probably damaging |
Het |
Cngb3 |
T |
C |
4: 19,415,690 (GRCm39) |
I400T |
possibly damaging |
Het |
Csad |
T |
C |
15: 102,096,028 (GRCm39) |
N142D |
probably benign |
Het |
Dars1 |
A |
T |
1: 128,306,595 (GRCm39) |
I195N |
probably damaging |
Het |
Dmxl1 |
T |
A |
18: 50,050,698 (GRCm39) |
L2454Q |
probably benign |
Het |
Emc1 |
A |
T |
4: 139,093,841 (GRCm39) |
E650D |
probably benign |
Het |
Enam |
A |
G |
5: 88,650,603 (GRCm39) |
D704G |
probably damaging |
Het |
Fat1 |
T |
A |
8: 45,477,683 (GRCm39) |
I2220N |
probably damaging |
Het |
Fat4 |
T |
C |
3: 39,035,566 (GRCm39) |
S3073P |
probably benign |
Het |
Fbxl4 |
T |
C |
4: 22,403,624 (GRCm39) |
M399T |
probably benign |
Het |
Gcsh |
G |
A |
8: 117,715,909 (GRCm39) |
T58M |
possibly damaging |
Het |
Ghrhr |
T |
C |
6: 55,356,726 (GRCm39) |
Y108H |
probably damaging |
Het |
Gm5431 |
A |
T |
11: 48,780,058 (GRCm39) |
I566N |
probably damaging |
Het |
Gnb5 |
A |
T |
9: 75,234,511 (GRCm39) |
D70V |
probably damaging |
Het |
Grin2c |
G |
T |
11: 115,141,492 (GRCm39) |
S875R |
probably benign |
Het |
Itch |
A |
C |
2: 155,044,141 (GRCm39) |
Q482P |
probably benign |
Het |
Krt87 |
T |
C |
15: 101,336,314 (GRCm39) |
E113G |
probably damaging |
Het |
Map4 |
A |
G |
9: 109,900,116 (GRCm39) |
E934G |
probably damaging |
Het |
Mkx |
A |
G |
18: 7,000,675 (GRCm39) |
L89P |
probably damaging |
Het |
Myo15a |
T |
A |
11: 60,400,847 (GRCm39) |
Y2982* |
probably null |
Het |
Nom1 |
A |
G |
5: 29,641,019 (GRCm39) |
D353G |
probably benign |
Het |
Notch1 |
A |
T |
2: 26,353,816 (GRCm39) |
L1937* |
probably null |
Het |
Nrxn2 |
A |
T |
19: 6,540,139 (GRCm39) |
D820V |
probably damaging |
Het |
Nup210 |
A |
T |
6: 91,032,226 (GRCm39) |
N47K |
probably benign |
Het |
Or1j12 |
T |
A |
2: 36,342,600 (GRCm39) |
M1K |
probably null |
Het |
Or4p21 |
G |
A |
2: 88,277,054 (GRCm39) |
T76I |
probably benign |
Het |
Or6d14 |
A |
T |
6: 116,533,578 (GRCm39) |
Q64L |
probably damaging |
Het |
Pcolce2 |
A |
T |
9: 95,576,742 (GRCm39) |
I338F |
probably damaging |
Het |
Pkd1 |
T |
C |
17: 24,799,046 (GRCm39) |
M2755T |
possibly damaging |
Het |
Plekhg4 |
TAGTCGATGCCCGAGTC |
TAGTC |
8: 106,103,084 (GRCm39) |
|
probably benign |
Het |
Rab3a |
T |
C |
8: 71,209,872 (GRCm39) |
S51P |
probably benign |
Het |
Scn10a |
G |
A |
9: 119,438,070 (GRCm39) |
A1933V |
probably benign |
Het |
Serpina1c |
T |
A |
12: 103,862,370 (GRCm39) |
Y315F |
probably damaging |
Het |
Slc29a4 |
A |
C |
5: 142,698,650 (GRCm39) |
I104L |
possibly damaging |
Het |
Spag16 |
G |
A |
1: 69,897,681 (GRCm39) |
V144I |
possibly damaging |
Het |
Spata22 |
A |
G |
11: 73,236,660 (GRCm39) |
K322R |
probably benign |
Het |
Sult2a8 |
T |
A |
7: 14,161,778 (GRCm39) |
I23L |
probably benign |
Het |
Thoc1 |
T |
A |
18: 9,986,300 (GRCm39) |
V344D |
probably damaging |
Het |
Tnn |
G |
C |
1: 159,924,798 (GRCm39) |
Y1185* |
probably null |
Het |
Trpc4 |
A |
G |
3: 54,209,614 (GRCm39) |
I660V |
probably benign |
Het |
Urb1 |
A |
G |
16: 90,571,144 (GRCm39) |
Y1222H |
probably benign |
Het |
Usp4 |
A |
G |
9: 108,250,885 (GRCm39) |
E531G |
probably benign |
Het |
Vmn2r93 |
C |
T |
17: 18,525,428 (GRCm39) |
S362L |
probably damaging |
Het |
Zfhx3 |
G |
T |
8: 109,526,885 (GRCm39) |
E927D |
probably damaging |
Het |
Zfp644 |
A |
T |
5: 106,786,469 (GRCm39) |
M1K |
probably null |
Het |
Zp2 |
T |
C |
7: 119,737,529 (GRCm39) |
H252R |
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 |
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 |
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'- AAGTCCAGTCGTGTCTACAACTAC -3'
(R):5'- AGTTCTCTTGAGGCTTGACTTC -3'
Sequencing Primer
(F):5'- AGAGAAGGCATCCCCCGTTTTAG -3'
(R):5'- TCCAAGGTTGTGCCCCATG -3'
|
Posted On |
2014-10-02 |