Incidental Mutation 'R6661:Nedd4'
| ID |
526846 |
| 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 |
044781-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6661 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
72569628-72657134 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 72593377 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 150
(V150E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138983
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034740]
[ENSMUST00000183375]
[ENSMUST00000184333]
[ENSMUST00000184450]
|
| AlphaFold |
P46935 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034740
AA Change: V150E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034740
Gene: ENSMUSG00000032216
AA Change: V150E
| 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 |
probably damaging
Transcript: ENSMUST00000184333
AA Change: V40E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000139190
Gene: ENSMUSG00000032216
AA Change: V40E
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
4 |
71 |
3.38e-4 |
SMART |
|
WW
|
140 |
172 |
2.32e-13 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000184450
AA Change: V150E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138983
Gene: ENSMUSG00000032216
AA Change: V150E
| 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: ENSMUST00000195338
|
| Meta Mutation Damage Score |
0.6306 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.8%
|
| Validation Efficiency |
93% (38/41) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amy2a1 |
T |
C |
3: 113,325,363 (GRCm39) |
Y77C |
probably damaging |
Het |
| Ankrd9 |
C |
A |
12: 110,944,202 (GRCm39) |
|
probably benign |
Het |
| Arhgap28 |
C |
A |
17: 68,152,746 (GRCm39) |
W675L |
probably damaging |
Het |
| Arhgap44 |
A |
G |
11: 64,900,834 (GRCm39) |
S595P |
probably damaging |
Het |
| Brd10 |
A |
T |
19: 29,700,864 (GRCm39) |
H741Q |
possibly damaging |
Het |
| Cacna1d |
C |
A |
14: 29,811,832 (GRCm39) |
D1273Y |
probably damaging |
Het |
| Ccr4 |
T |
C |
9: 114,325,031 (GRCm39) |
|
probably benign |
Het |
| Celsr1 |
A |
G |
15: 85,803,135 (GRCm39) |
V2468A |
probably damaging |
Het |
| Chd2 |
T |
C |
7: 73,140,230 (GRCm39) |
E666G |
possibly damaging |
Het |
| Ctnnd1 |
C |
A |
2: 84,439,986 (GRCm39) |
V775L |
probably damaging |
Het |
| Cux2 |
C |
A |
5: 122,007,360 (GRCm39) |
R767L |
probably benign |
Het |
| Decr2 |
A |
G |
17: 26,302,561 (GRCm39) |
L217S |
possibly damaging |
Het |
| Dennd4c |
T |
A |
4: 86,717,626 (GRCm39) |
M541K |
possibly damaging |
Het |
| Dnah7a |
T |
C |
1: 53,662,609 (GRCm39) |
R651G |
probably benign |
Het |
| Fbrsl1 |
A |
T |
5: 110,525,963 (GRCm39) |
F80I |
probably damaging |
Het |
| Fmnl2 |
C |
A |
2: 52,998,297 (GRCm39) |
P554Q |
probably damaging |
Het |
| Gapvd1 |
C |
T |
2: 34,618,450 (GRCm39) |
D308N |
probably damaging |
Het |
| Gatb |
A |
G |
3: 85,559,726 (GRCm39) |
|
probably null |
Het |
| Jcad |
G |
A |
18: 4,675,256 (GRCm39) |
G1006D |
probably damaging |
Het |
| Krt1c |
A |
G |
15: 101,724,398 (GRCm39) |
Y289H |
probably damaging |
Het |
| Lrrc52 |
A |
G |
1: 167,293,922 (GRCm39) |
F121S |
probably damaging |
Het |
| Lrrc63 |
G |
A |
14: 75,362,633 (GRCm39) |
T299I |
unknown |
Het |
| Magi1 |
T |
C |
6: 93,920,289 (GRCm39) |
N109S |
probably benign |
Het |
| Mbd4 |
C |
A |
6: 115,826,116 (GRCm39) |
E271* |
probably null |
Het |
| Meis2 |
T |
A |
2: 115,694,751 (GRCm39) |
D457V |
probably damaging |
Het |
| Mroh8 |
A |
G |
2: 157,067,547 (GRCm39) |
V604A |
probably benign |
Het |
| Nes |
A |
G |
3: 87,884,243 (GRCm39) |
E790G |
probably damaging |
Het |
| Or8h8 |
T |
C |
2: 86,753,492 (GRCm39) |
N128S |
probably benign |
Het |
| Pik3c2a |
T |
C |
7: 115,967,993 (GRCm39) |
I834V |
possibly damaging |
Het |
| Plxnb1 |
T |
C |
9: 108,933,367 (GRCm39) |
C666R |
possibly damaging |
Het |
| Prg2 |
T |
C |
2: 84,813,620 (GRCm39) |
|
probably null |
Het |
| Selenbp2 |
A |
G |
3: 94,609,821 (GRCm39) |
D257G |
probably damaging |
Het |
| Slf1 |
T |
C |
13: 77,191,964 (GRCm39) |
R957G |
probably damaging |
Het |
| Smim10l1 |
T |
A |
6: 133,082,513 (GRCm39) |
M46K |
possibly damaging |
Het |
| Sptbn5 |
T |
C |
2: 119,902,856 (GRCm39) |
Y50C |
possibly damaging |
Het |
| Tcea1 |
A |
G |
1: 4,928,652 (GRCm39) |
|
probably benign |
Het |
| Tex14 |
A |
G |
11: 87,385,842 (GRCm39) |
E234G |
probably damaging |
Het |
| Tmbim4 |
T |
C |
10: 120,060,556 (GRCm39) |
V181A |
probably benign |
Het |
| Trappc9 |
A |
G |
15: 72,461,993 (GRCm39) |
S1091P |
possibly damaging |
Het |
| Txnrd3 |
T |
A |
6: 89,631,134 (GRCm39) |
C143* |
probably null |
Het |
| Ushbp1 |
C |
T |
8: 71,843,305 (GRCm39) |
C314Y |
unknown |
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 |
|
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'- AAGTGTGACTGTGGGTAACG -3'
(R):5'- GTCCTTCAGAACAGAATGGAATG -3'
Sequencing Primer
(F):5'- ACGTGAGTCTTGCCTATTCTTTG -3'
(R):5'- ATGGAATGGGAGGGTTAACTC -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation