Incidental Mutation 'R1490:Nedd1'
ID |
163661 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nedd1
|
Ensembl Gene |
ENSMUSG00000019988 |
Gene Name |
neural precursor cell expressed, developmentally down-regulated gene 1 |
Synonyms |
|
MMRRC Submission |
039542-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.965)
|
Stock # |
R1490 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
92520608-92558282 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 92536660 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 214
(F214S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020163
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020163]
|
AlphaFold |
P33215 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000020163
AA Change: F214S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000020163 Gene: ENSMUSG00000019988 AA Change: F214S
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: ENSMUST00000214417
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215970
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh1l2 |
G |
A |
10: 83,356,234 (GRCm39) |
T52I |
probably damaging |
Het |
Arhgef28 |
G |
A |
13: 98,114,952 (GRCm39) |
R633W |
probably damaging |
Het |
Atg9a |
T |
C |
1: 75,162,389 (GRCm39) |
N507S |
possibly damaging |
Het |
Bsn |
A |
G |
9: 107,991,193 (GRCm39) |
S1520P |
probably benign |
Het |
Cacul1 |
G |
T |
19: 60,568,837 (GRCm39) |
A107E |
probably damaging |
Het |
Cd74 |
A |
G |
18: 60,944,438 (GRCm39) |
D216G |
probably damaging |
Het |
Cdh16 |
A |
T |
8: 105,348,702 (GRCm39) |
W109R |
probably damaging |
Het |
Cdip1 |
C |
T |
16: 4,586,775 (GRCm39) |
V100I |
probably damaging |
Het |
Ceacam3 |
A |
G |
7: 16,897,071 (GRCm39) |
D679G |
probably damaging |
Het |
Comp |
A |
G |
8: 70,826,563 (GRCm39) |
D46G |
possibly damaging |
Het |
Dlx3 |
T |
C |
11: 95,011,430 (GRCm39) |
Y95H |
probably benign |
Het |
Dmrta2 |
T |
C |
4: 109,837,072 (GRCm39) |
S5P |
unknown |
Het |
E130308A19Rik |
A |
G |
4: 59,719,746 (GRCm39) |
Y426C |
probably damaging |
Het |
Entpd3 |
A |
G |
9: 120,383,225 (GRCm39) |
S87G |
probably benign |
Het |
Eps8l1 |
A |
G |
7: 4,473,888 (GRCm39) |
R232G |
probably damaging |
Het |
Gart |
A |
T |
16: 91,421,232 (GRCm39) |
V812D |
probably damaging |
Het |
Gm10153 |
C |
T |
7: 141,743,879 (GRCm39) |
C83Y |
unknown |
Het |
Gpd2 |
T |
C |
2: 57,245,487 (GRCm39) |
V394A |
probably damaging |
Het |
Hpcal1 |
A |
T |
12: 17,836,225 (GRCm39) |
E18D |
probably benign |
Het |
Mdga2 |
T |
C |
12: 66,844,530 (GRCm39) |
D156G |
probably benign |
Het |
Mks1 |
A |
G |
11: 87,753,595 (GRCm39) |
K510E |
probably benign |
Het |
Ms4a19 |
A |
G |
19: 11,118,902 (GRCm39) |
I69T |
probably benign |
Het |
Mtmr4 |
G |
A |
11: 87,503,051 (GRCm39) |
R1035Q |
probably damaging |
Het |
Myh6 |
T |
A |
14: 55,200,175 (GRCm39) |
K235* |
probably null |
Het |
Or1e32 |
A |
G |
11: 73,705,197 (GRCm39) |
V237A |
possibly damaging |
Het |
Or1o3 |
A |
G |
17: 37,573,733 (GRCm39) |
M274T |
probably benign |
Het |
Or2l13 |
T |
C |
16: 19,305,672 (GRCm39) |
M28T |
probably benign |
Het |
Or52e15 |
A |
G |
7: 104,645,700 (GRCm39) |
I137T |
possibly damaging |
Het |
Pfkfb2 |
A |
C |
1: 130,625,626 (GRCm39) |
|
probably null |
Het |
Pfkfb4 |
T |
C |
9: 108,856,688 (GRCm39) |
L398P |
probably damaging |
Het |
Pfn3 |
T |
G |
13: 55,562,732 (GRCm39) |
D83A |
probably damaging |
Het |
Pi4ka |
C |
A |
16: 17,204,132 (GRCm39) |
W54L |
probably damaging |
Het |
Ppp3r1 |
A |
G |
11: 17,148,275 (GRCm39) |
D161G |
probably benign |
Het |
Prrc2a |
A |
G |
17: 35,372,230 (GRCm39) |
S1757P |
probably benign |
Het |
Samd7 |
A |
G |
3: 30,812,502 (GRCm39) |
E314G |
probably benign |
Het |
Slc17a4 |
A |
G |
13: 24,088,736 (GRCm39) |
I217T |
probably benign |
Het |
Slc22a1 |
A |
T |
17: 12,881,780 (GRCm39) |
|
probably null |
Het |
Slc7a7 |
C |
T |
14: 54,646,103 (GRCm39) |
R120H |
probably damaging |
Het |
Sos1 |
A |
T |
17: 80,721,104 (GRCm39) |
H905Q |
probably benign |
Het |
Thada |
G |
A |
17: 84,754,029 (GRCm39) |
T314I |
possibly damaging |
Het |
Tirap |
ACTGCTGCTGCTGCTGCTG |
ACTGCTGCTGCTGCTG |
9: 35,100,362 (GRCm39) |
|
probably benign |
Het |
Tlr11 |
A |
C |
14: 50,600,633 (GRCm39) |
H873P |
probably benign |
Het |
Tlr4 |
A |
T |
4: 66,757,611 (GRCm39) |
T135S |
possibly damaging |
Het |
Tmem116 |
T |
C |
5: 121,633,174 (GRCm39) |
S183P |
probably damaging |
Het |
Tubgcp3 |
A |
T |
8: 12,689,550 (GRCm39) |
I572K |
probably damaging |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Ush2a |
C |
T |
1: 188,092,038 (GRCm39) |
T523I |
probably benign |
Het |
Usp40 |
G |
A |
1: 87,916,687 (GRCm39) |
Q364* |
probably null |
Het |
Vmn1r61 |
T |
C |
7: 5,614,242 (GRCm39) |
Q24R |
probably benign |
Het |
Wdfy4 |
C |
A |
14: 32,874,495 (GRCm39) |
|
probably null |
Het |
Zfp458 |
G |
A |
13: 67,405,573 (GRCm39) |
P286S |
probably damaging |
Het |
Zfp68 |
A |
T |
5: 138,605,091 (GRCm39) |
C373S |
probably benign |
Het |
Zfp768 |
T |
A |
7: 126,942,803 (GRCm39) |
I442F |
probably damaging |
Het |
Zfp990 |
A |
G |
4: 145,263,853 (GRCm39) |
R284G |
probably benign |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- AAAGATGTATGATGAAGCCTGCCCC -3'
(R):5'- ATACCTAGCCCGGCATAGACAGAG -3'
Sequencing Primer
(F):5'- cacataaaaccctaagcagcac -3'
(R):5'- CCGGCATAGACAGAGTTGGTG -3'
|
Posted On |
2014-03-28 |