Incidental Mutation 'R8487:Nedd4'
ID |
657797 |
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 |
067930-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8487 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
72569628-72657134 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 72577321 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 49
(C49R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138983
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034740]
[ENSMUST00000183375]
[ENSMUST00000184333]
[ENSMUST00000184450]
|
AlphaFold |
P46935 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034740
AA Change: C49R
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000034740 Gene: ENSMUSG00000032216 AA Change: C49R
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 |
possibly damaging
Transcript: ENSMUST00000183375
AA Change: C49R
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000138852 Gene: ENSMUSG00000032216 AA Change: C49R
Domain | Start | End | E-Value | Type |
C2
|
79 |
163 |
1.12e-9 |
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 damaging
Transcript: ENSMUST00000184450
AA Change: C49R
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000138983 Gene: ENSMUSG00000032216 AA Change: C49R
Domain | Start | End | E-Value | Type |
C2
|
79 |
181 |
5.38e-21 |
SMART |
WW
|
250 |
282 |
2.32e-13 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrl2 |
T |
C |
3: 148,565,122 (GRCm39) |
I153V |
probably benign |
Het |
Arhgap21 |
A |
C |
2: 20,886,116 (GRCm39) |
S354A |
probably benign |
Het |
Bcan |
T |
C |
3: 87,896,516 (GRCm39) |
T727A |
probably damaging |
Het |
Brinp1 |
C |
T |
4: 68,747,692 (GRCm39) |
G137E |
probably damaging |
Het |
Catsperd |
A |
G |
17: 56,970,419 (GRCm39) |
Y697C |
probably damaging |
Het |
Ccdc39 |
T |
A |
3: 33,886,808 (GRCm39) |
K267* |
probably null |
Het |
Ccdc47 |
C |
A |
11: 106,092,971 (GRCm39) |
V92L |
possibly damaging |
Het |
Cyp2c54 |
A |
T |
19: 40,059,990 (GRCm39) |
I181N |
probably damaging |
Het |
Ddx60 |
A |
T |
8: 62,427,184 (GRCm39) |
D753V |
probably damaging |
Het |
Dlg2 |
A |
T |
7: 91,935,796 (GRCm39) |
K641N |
probably damaging |
Het |
Eloa |
G |
A |
4: 135,736,668 (GRCm39) |
R527C |
probably benign |
Het |
Fancd2 |
C |
T |
6: 113,545,187 (GRCm39) |
P835L |
probably damaging |
Het |
Fbln2 |
C |
G |
6: 91,227,846 (GRCm39) |
T428S |
probably damaging |
Het |
Fbn2 |
G |
A |
18: 58,153,462 (GRCm39) |
A2600V |
possibly damaging |
Het |
Gbe1 |
A |
G |
16: 70,233,876 (GRCm39) |
Y251C |
probably damaging |
Het |
Gnptab |
T |
A |
10: 88,268,508 (GRCm39) |
|
probably null |
Het |
Hspa1a |
T |
A |
17: 35,191,033 (GRCm39) |
|
probably benign |
Het |
Ifi204 |
G |
A |
1: 173,587,839 (GRCm39) |
P107S |
probably damaging |
Het |
Kif6 |
A |
G |
17: 49,978,164 (GRCm39) |
I119V |
probably damaging |
Het |
Lmntd2 |
G |
A |
7: 140,790,427 (GRCm39) |
H554Y |
probably benign |
Het |
Lrrc8e |
C |
A |
8: 4,284,218 (GRCm39) |
H148N |
probably damaging |
Het |
Lrriq1 |
T |
C |
10: 103,050,914 (GRCm39) |
N613D |
probably damaging |
Het |
Map4k4 |
C |
T |
1: 40,028,136 (GRCm39) |
T319M |
probably damaging |
Het |
Mbtps1 |
C |
T |
8: 120,268,413 (GRCm39) |
V253I |
probably damaging |
Het |
Mcm4 |
C |
A |
16: 15,450,042 (GRCm39) |
C330F |
probably damaging |
Het |
Mok |
A |
G |
12: 110,776,341 (GRCm39) |
|
probably null |
Het |
Nlrp4e |
T |
C |
7: 23,020,983 (GRCm39) |
V490A |
probably benign |
Het |
Nsf |
A |
T |
11: 103,819,584 (GRCm39) |
F27I |
probably damaging |
Het |
Or10g3b |
A |
T |
14: 52,586,696 (GRCm39) |
L269Q |
probably damaging |
Het |
Or14c44 |
A |
G |
7: 86,061,647 (GRCm39) |
S26G |
probably benign |
Het |
Or4a47 |
T |
C |
2: 89,665,609 (GRCm39) |
N227D |
probably benign |
Het |
Or5p73 |
G |
T |
7: 108,064,784 (GRCm39) |
M84I |
possibly damaging |
Het |
Or6c66 |
A |
G |
10: 129,461,114 (GRCm39) |
I272T |
possibly damaging |
Het |
Pax1 |
A |
G |
2: 147,206,968 (GRCm39) |
M1V |
probably null |
Het |
Pcdhga12 |
A |
G |
18: 37,900,631 (GRCm39) |
T488A |
probably damaging |
Het |
Plekhh2 |
A |
G |
17: 84,864,909 (GRCm39) |
D99G |
possibly damaging |
Het |
Polr3h |
T |
C |
15: 81,800,824 (GRCm39) |
T173A |
probably benign |
Het |
Pramel6 |
C |
T |
2: 87,339,045 (GRCm39) |
L82F |
probably damaging |
Het |
Ralgapa2 |
A |
T |
2: 146,230,463 (GRCm39) |
I1034N |
probably damaging |
Het |
Rbfox1 |
G |
A |
16: 7,042,319 (GRCm39) |
V58I |
probably damaging |
Het |
Reln |
T |
A |
5: 22,104,027 (GRCm39) |
I3315L |
probably benign |
Het |
Rev3l |
T |
A |
10: 39,682,844 (GRCm39) |
S321T |
probably damaging |
Het |
Ryr1 |
T |
C |
7: 28,740,292 (GRCm39) |
T3908A |
probably damaging |
Het |
Secisbp2l |
G |
T |
2: 125,617,502 (GRCm39) |
Y58* |
probably null |
Het |
Sgms1 |
C |
A |
19: 32,102,697 (GRCm39) |
V337L |
probably benign |
Het |
Slc38a2 |
G |
A |
15: 96,593,172 (GRCm39) |
Q136* |
probably null |
Het |
Smarcd1 |
T |
A |
15: 99,605,657 (GRCm39) |
V296D |
probably damaging |
Het |
Smcr8 |
A |
C |
11: 60,674,822 (GRCm39) |
H866P |
probably damaging |
Het |
Spcs1 |
T |
A |
14: 30,722,721 (GRCm39) |
I33L |
probably benign |
Het |
Stxbp5 |
T |
C |
10: 9,688,033 (GRCm39) |
R423G |
possibly damaging |
Het |
Syt4 |
A |
T |
18: 31,576,790 (GRCm39) |
M188K |
possibly damaging |
Het |
Tchhl1 |
A |
G |
3: 93,376,869 (GRCm39) |
D22G |
probably damaging |
Het |
Tiparp |
T |
A |
3: 65,453,655 (GRCm39) |
N134K |
probably benign |
Het |
Topaz1 |
A |
G |
9: 122,579,001 (GRCm39) |
D637G |
possibly damaging |
Het |
Trav14d-3-dv8 |
A |
T |
14: 53,316,192 (GRCm39) |
|
probably benign |
Het |
Vmn1r19 |
A |
T |
6: 57,382,166 (GRCm39) |
M240L |
probably benign |
Het |
Vmn1r77 |
T |
A |
7: 11,775,514 (GRCm39) |
S29T |
probably damaging |
Het |
Vps13d |
A |
G |
4: 144,881,817 (GRCm39) |
F1253L |
probably benign |
Het |
Zfp407 |
G |
A |
18: 84,580,895 (GRCm39) |
R73* |
probably null |
Het |
Zfp446 |
T |
A |
7: 12,716,555 (GRCm39) |
F334I |
possibly damaging |
Het |
Zfp654 |
A |
T |
16: 64,606,011 (GRCm39) |
Y730* |
probably null |
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 |
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 |
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'- TTACCTACATTTGCACAGACTCAC -3'
(R):5'- CTTGGAGCCAGCACTAGAAC -3'
Sequencing Primer
(F):5'- GCTGAGCCACTTGAGAATAAGTTAC -3'
(R):5'- CCAGCGTGGTTTACATAGCAAGTTC -3'
|
Posted On |
2021-01-18 |