Incidental Mutation 'IGL03011:Nedd1'
ID |
407778 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Nedd1
|
Ensembl Gene |
ENSMUSG00000019988 |
Gene Name |
neural precursor cell expressed, developmentally down-regulated gene 1 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.965)
|
Stock # |
IGL03011
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
92520608-92558282 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 92525503 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 602
(D602G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020163
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020163]
|
AlphaFold |
P33215 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020163
AA Change: D602G
PolyPhen 2
Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000020163 Gene: ENSMUSG00000019988 AA Change: D602G
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: ENSMUST00000157787
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214417
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acvr1b |
A |
G |
15: 101,100,959 (GRCm39) |
R374G |
probably damaging |
Het |
Apob |
C |
A |
12: 8,047,883 (GRCm39) |
P941Q |
probably damaging |
Het |
Armc9 |
T |
A |
1: 86,127,638 (GRCm39) |
|
probably null |
Het |
Arpc5l |
T |
C |
2: 38,903,730 (GRCm39) |
|
probably benign |
Het |
Atg2b |
C |
A |
12: 105,592,621 (GRCm39) |
D1745Y |
probably damaging |
Het |
Atp9a |
A |
G |
2: 168,494,552 (GRCm39) |
V651A |
probably damaging |
Het |
Ccnyl1 |
T |
C |
1: 64,747,631 (GRCm39) |
I148T |
possibly damaging |
Het |
Cfap95 |
T |
A |
19: 23,630,017 (GRCm39) |
D25V |
unknown |
Het |
Chrna6 |
A |
T |
8: 27,903,682 (GRCm39) |
W17R |
possibly damaging |
Het |
Cpne1 |
G |
A |
2: 155,919,917 (GRCm39) |
H244Y |
probably damaging |
Het |
Cpxm2 |
A |
G |
7: 131,650,807 (GRCm39) |
Y618H |
possibly damaging |
Het |
Csf1r |
T |
C |
18: 61,243,473 (GRCm39) |
I163T |
probably benign |
Het |
Ctdsp1 |
T |
C |
1: 74,434,606 (GRCm39) |
|
probably benign |
Het |
Ctsb |
T |
A |
14: 63,370,806 (GRCm39) |
I6N |
probably benign |
Het |
Dcbld1 |
A |
G |
10: 52,160,244 (GRCm39) |
N44S |
probably damaging |
Het |
Dnah11 |
C |
T |
12: 117,976,112 (GRCm39) |
C2769Y |
probably benign |
Het |
Efemp2 |
C |
A |
19: 5,530,093 (GRCm39) |
Q187K |
probably damaging |
Het |
Elavl3 |
A |
T |
9: 21,947,612 (GRCm39) |
I109N |
probably damaging |
Het |
Elovl5 |
G |
T |
9: 77,890,066 (GRCm39) |
K292N |
probably benign |
Het |
Epb41 |
G |
T |
4: 131,731,105 (GRCm39) |
P1T |
probably damaging |
Het |
Gm44865 |
G |
T |
7: 108,165,007 (GRCm39) |
|
probably benign |
Het |
Gnat2 |
C |
A |
3: 108,007,368 (GRCm39) |
T262K |
probably damaging |
Het |
Katnip |
T |
C |
7: 125,451,174 (GRCm39) |
C1102R |
probably benign |
Het |
Kmt2e |
A |
T |
5: 23,702,540 (GRCm39) |
I951F |
probably damaging |
Het |
Large2 |
T |
C |
2: 92,197,927 (GRCm39) |
H258R |
probably damaging |
Het |
Lnx1 |
G |
A |
5: 74,846,420 (GRCm39) |
P10L |
probably benign |
Het |
Lrp6 |
G |
A |
6: 134,497,380 (GRCm39) |
S209L |
possibly damaging |
Het |
Mc3r |
A |
G |
2: 172,091,716 (GRCm39) |
I313V |
probably benign |
Het |
Med1 |
T |
C |
11: 98,051,859 (GRCm39) |
D468G |
possibly damaging |
Het |
Mlxip |
T |
C |
5: 123,584,014 (GRCm39) |
S526P |
probably benign |
Het |
Myo15a |
T |
C |
11: 60,400,357 (GRCm39) |
|
probably benign |
Het |
Nol7 |
C |
T |
13: 43,554,769 (GRCm39) |
|
probably benign |
Het |
Or8c10 |
T |
C |
9: 38,279,364 (GRCm39) |
I174T |
possibly damaging |
Het |
Piezo2 |
T |
C |
18: 63,257,731 (GRCm39) |
D329G |
probably benign |
Het |
Pkia |
G |
T |
3: 7,507,142 (GRCm39) |
E75* |
probably null |
Het |
Pramel26 |
A |
C |
4: 143,538,330 (GRCm39) |
F214V |
possibly damaging |
Het |
Ptpn14 |
A |
T |
1: 189,571,754 (GRCm39) |
T282S |
probably damaging |
Het |
Ptprg |
C |
T |
14: 12,219,029 (GRCm38) |
P408S |
probably damaging |
Het |
Rpa2 |
A |
G |
4: 132,502,358 (GRCm39) |
I147V |
probably benign |
Het |
Serpina12 |
T |
C |
12: 103,997,397 (GRCm39) |
T375A |
possibly damaging |
Het |
Serpinb11 |
T |
A |
1: 107,307,546 (GRCm39) |
S326T |
probably damaging |
Het |
Slc18a1 |
T |
C |
8: 69,491,515 (GRCm39) |
T500A |
probably benign |
Het |
Tapt1 |
A |
G |
5: 44,350,529 (GRCm39) |
F247L |
possibly damaging |
Het |
Trav8d-2 |
A |
G |
14: 53,280,218 (GRCm39) |
I69M |
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 |
|
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 |
R5404:Nedd1
|
UTSW |
10 |
92,552,054 (GRCm39) |
missense |
probably benign |
0.04 |
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 |
|
|
Posted On |
2016-08-02 |