Incidental Mutation 'R5404:Nedd1'
ID |
428634 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nedd1
|
Ensembl Gene |
ENSMUSG00000019988 |
Gene Name |
neural precursor cell expressed, developmentally down-regulated gene 1 |
Synonyms |
|
MMRRC Submission |
042975-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.965)
|
Stock # |
R5404 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
92520608-92558282 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 92552054 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 69
(V69I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020163
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020163]
[ENSMUST00000216086]
|
AlphaFold |
P33215 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020163
AA Change: V69I
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000020163 Gene: ENSMUSG00000019988 AA Change: V69I
Domain | Start | End | E-Value | Type |
WD40
|
21 |
63 |
5.97e-1 |
SMART |
WD40
|
67 |
105 |
9.75e-3 |
SMART |
WD40
|
108 |
147 |
6.19e-5 |
SMART |
WD40
|
149 |
191 |
6.42e-1 |
SMART |
WD40
|
194 |
235 |
9.1e-3 |
SMART |
WD40
|
238 |
276 |
2.24e-2 |
SMART |
low complexity region
|
555 |
568 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213901
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214417
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215970
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000216086
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A1bg |
T |
C |
15: 60,791,545 (GRCm39) |
H297R |
probably benign |
Het |
Ccnk |
A |
T |
12: 108,161,882 (GRCm39) |
K262N |
possibly damaging |
Het |
Clec4b2 |
A |
T |
6: 123,158,308 (GRCm39) |
Y58F |
probably benign |
Het |
Cp |
A |
C |
3: 20,043,292 (GRCm39) |
T1027P |
possibly damaging |
Het |
Cpox |
G |
A |
16: 58,495,649 (GRCm39) |
G322D |
probably damaging |
Het |
Cry1 |
T |
C |
10: 85,020,283 (GRCm39) |
N18S |
probably damaging |
Het |
Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
Dock10 |
A |
G |
1: 80,481,630 (GRCm39) |
|
probably benign |
Het |
Fance |
A |
T |
17: 28,537,034 (GRCm39) |
R58W |
probably null |
Het |
Fermt1 |
T |
C |
2: 132,776,789 (GRCm39) |
D233G |
possibly damaging |
Het |
Gabpa |
T |
A |
16: 84,657,351 (GRCm39) |
Y409N |
probably damaging |
Het |
Gpr162 |
A |
G |
6: 124,838,606 (GRCm39) |
S15P |
possibly damaging |
Het |
Grid2 |
T |
A |
6: 63,907,894 (GRCm39) |
I178N |
probably damaging |
Het |
Il17re |
T |
C |
6: 113,446,063 (GRCm39) |
V233A |
probably benign |
Het |
Lemd3 |
G |
A |
10: 120,767,863 (GRCm39) |
Q672* |
probably null |
Het |
Myh15 |
A |
G |
16: 48,980,341 (GRCm39) |
T1488A |
probably benign |
Het |
Narf |
T |
A |
11: 121,133,452 (GRCm39) |
H84Q |
probably benign |
Het |
Nfil3 |
G |
A |
13: 53,122,091 (GRCm39) |
S271F |
probably damaging |
Het |
Npc1 |
A |
G |
18: 12,346,356 (GRCm39) |
L280P |
possibly damaging |
Het |
Or2n1e |
T |
A |
17: 38,586,517 (GRCm39) |
L285* |
probably null |
Het |
Or4p20 |
C |
T |
2: 88,254,145 (GRCm39) |
V75M |
probably damaging |
Het |
Or51a25 |
T |
A |
7: 102,372,807 (GRCm39) |
I297F |
possibly damaging |
Het |
Poli |
A |
G |
18: 70,642,503 (GRCm39) |
S503P |
probably benign |
Het |
Rbm5 |
T |
C |
9: 107,642,752 (GRCm39) |
E94G |
probably damaging |
Het |
Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
Rps6ka5 |
T |
C |
12: 100,582,352 (GRCm39) |
I173M |
probably damaging |
Het |
Slc40a1 |
A |
G |
1: 45,951,488 (GRCm39) |
L223P |
probably damaging |
Het |
Smg1 |
T |
C |
7: 117,806,131 (GRCm39) |
K213E |
probably damaging |
Het |
Spem1 |
T |
A |
11: 69,711,763 (GRCm39) |
K300N |
probably damaging |
Het |
Tchh |
A |
G |
3: 93,354,982 (GRCm39) |
E1474G |
unknown |
Het |
Tenm4 |
A |
T |
7: 96,543,887 (GRCm39) |
R1968W |
probably damaging |
Het |
Tshz2 |
A |
T |
2: 169,726,240 (GRCm39) |
M279L |
probably benign |
Het |
Tuba3a |
G |
T |
6: 125,258,555 (GRCm39) |
T145K |
possibly damaging |
Het |
|
Other mutations in Nedd1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00764:Nedd1
|
APN |
10 |
92,530,836 (GRCm39) |
splice site |
probably benign |
|
IGL00988:Nedd1
|
APN |
10 |
92,525,548 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL01563:Nedd1
|
APN |
10 |
92,534,031 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01588:Nedd1
|
APN |
10 |
92,522,124 (GRCm39) |
missense |
probably benign |
0.12 |
IGL01988:Nedd1
|
APN |
10 |
92,550,021 (GRCm39) |
missense |
probably benign |
0.39 |
IGL02706:Nedd1
|
APN |
10 |
92,522,147 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL02938:Nedd1
|
APN |
10 |
92,525,519 (GRCm39) |
nonsense |
probably null |
|
IGL03011:Nedd1
|
APN |
10 |
92,525,503 (GRCm39) |
missense |
possibly damaging |
0.92 |
Brainless
|
UTSW |
10 |
92,526,635 (GRCm39) |
missense |
probably benign |
0.01 |
R0125:Nedd1
|
UTSW |
10 |
92,527,791 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0173:Nedd1
|
UTSW |
10 |
92,534,745 (GRCm39) |
missense |
probably benign |
0.30 |
R0244:Nedd1
|
UTSW |
10 |
92,552,127 (GRCm39) |
intron |
probably benign |
|
R0645:Nedd1
|
UTSW |
10 |
92,527,693 (GRCm39) |
splice site |
probably null |
|
R0791:Nedd1
|
UTSW |
10 |
92,555,476 (GRCm39) |
missense |
probably damaging |
1.00 |
R1490:Nedd1
|
UTSW |
10 |
92,536,660 (GRCm39) |
missense |
probably damaging |
1.00 |
R1522:Nedd1
|
UTSW |
10 |
92,555,476 (GRCm39) |
missense |
probably damaging |
1.00 |
R1797:Nedd1
|
UTSW |
10 |
92,534,601 (GRCm39) |
missense |
possibly damaging |
0.46 |
R1984:Nedd1
|
UTSW |
10 |
92,550,022 (GRCm39) |
missense |
possibly damaging |
0.63 |
R2474:Nedd1
|
UTSW |
10 |
92,555,465 (GRCm39) |
missense |
probably damaging |
0.99 |
R2877:Nedd1
|
UTSW |
10 |
92,549,988 (GRCm39) |
missense |
possibly damaging |
0.89 |
R2883:Nedd1
|
UTSW |
10 |
92,530,860 (GRCm39) |
missense |
probably damaging |
0.98 |
R4694:Nedd1
|
UTSW |
10 |
92,555,444 (GRCm39) |
missense |
probably benign |
0.00 |
R4798:Nedd1
|
UTSW |
10 |
92,534,772 (GRCm39) |
missense |
probably benign |
0.00 |
R4830:Nedd1
|
UTSW |
10 |
92,522,120 (GRCm39) |
missense |
probably damaging |
1.00 |
R4963:Nedd1
|
UTSW |
10 |
92,530,893 (GRCm39) |
missense |
probably damaging |
1.00 |
R5174:Nedd1
|
UTSW |
10 |
92,547,074 (GRCm39) |
missense |
possibly damaging |
0.77 |
R5329:Nedd1
|
UTSW |
10 |
92,522,102 (GRCm39) |
missense |
probably damaging |
1.00 |
R5534:Nedd1
|
UTSW |
10 |
92,530,894 (GRCm39) |
missense |
probably benign |
0.01 |
R6045:Nedd1
|
UTSW |
10 |
92,530,962 (GRCm39) |
nonsense |
probably null |
|
R6154:Nedd1
|
UTSW |
10 |
92,534,104 (GRCm39) |
missense |
possibly damaging |
0.65 |
R6512:Nedd1
|
UTSW |
10 |
92,527,737 (GRCm39) |
missense |
probably benign |
|
R6692:Nedd1
|
UTSW |
10 |
92,534,199 (GRCm39) |
missense |
possibly damaging |
0.88 |
R6693:Nedd1
|
UTSW |
10 |
92,534,199 (GRCm39) |
missense |
possibly damaging |
0.88 |
R6943:Nedd1
|
UTSW |
10 |
92,547,168 (GRCm39) |
missense |
probably damaging |
1.00 |
R7011:Nedd1
|
UTSW |
10 |
92,526,635 (GRCm39) |
missense |
probably benign |
0.01 |
R7406:Nedd1
|
UTSW |
10 |
92,547,185 (GRCm39) |
splice site |
probably null |
|
R7455:Nedd1
|
UTSW |
10 |
92,536,787 (GRCm39) |
missense |
probably benign |
0.01 |
R7587:Nedd1
|
UTSW |
10 |
92,534,592 (GRCm39) |
missense |
probably benign |
0.01 |
R7745:Nedd1
|
UTSW |
10 |
92,550,034 (GRCm39) |
missense |
probably benign |
|
R8104:Nedd1
|
UTSW |
10 |
92,527,778 (GRCm39) |
missense |
probably damaging |
1.00 |
R8209:Nedd1
|
UTSW |
10 |
92,527,797 (GRCm39) |
missense |
probably benign |
|
R8226:Nedd1
|
UTSW |
10 |
92,527,797 (GRCm39) |
missense |
probably benign |
|
R8925:Nedd1
|
UTSW |
10 |
92,558,258 (GRCm39) |
start gained |
probably benign |
|
R8927:Nedd1
|
UTSW |
10 |
92,558,258 (GRCm39) |
start gained |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- GGCCTAAACTGCTCTCCTAAATC -3'
(R):5'- GCTGGTATATGAGCCGCATTTG -3'
Sequencing Primer
(F):5'- TATAATCTCACCTATCAACCTCTCGG -3'
(R):5'- ATATGAGCCGCATTTGTGTACTG -3'
|
Posted On |
2016-09-06 |