Incidental Mutation 'R2883:Nedd1'
| ID |
260926 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nedd1
|
| Ensembl Gene |
ENSMUSG00000019988 |
| Gene Name |
neural precursor cell expressed, developmentally down-regulated gene 1 |
| Synonyms |
|
| MMRRC Submission |
040471-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.964)
|
| Stock # |
R2883 (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 C
at 92530860 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Valine
at position 410
(F410V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020163
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020163]
|
| AlphaFold |
P33215 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020163
AA Change: F410V
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000020163
Gene: ENSMUSG00000019988
AA Change: F410V
| 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
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018B08Rik |
G |
A |
8: 122,266,644 (GRCm39) |
P81S |
probably damaging |
Het |
| Arhgef10l |
T |
C |
4: 140,244,113 (GRCm39) |
Q790R |
probably benign |
Het |
| Asic2 |
T |
A |
11: 80,784,839 (GRCm39) |
I367F |
possibly damaging |
Het |
| Asxl2 |
T |
C |
12: 3,551,830 (GRCm39) |
S1191P |
probably benign |
Het |
| Bod1l |
A |
G |
5: 41,989,602 (GRCm39) |
S374P |
probably benign |
Het |
| C1qtnf7 |
T |
A |
5: 43,773,222 (GRCm39) |
F167I |
probably damaging |
Het |
| Cimip3 |
C |
A |
17: 47,747,650 (GRCm39) |
V32F |
probably damaging |
Het |
| Col13a1 |
A |
G |
10: 61,814,135 (GRCm39) |
L94P |
probably benign |
Het |
| Cped1 |
A |
T |
6: 22,143,978 (GRCm39) |
T575S |
probably damaging |
Het |
| Cpt1b |
T |
C |
15: 89,302,072 (GRCm39) |
Y702C |
probably benign |
Het |
| D630039A03Rik |
T |
A |
4: 57,910,560 (GRCm39) |
N84I |
probably damaging |
Het |
| Dse |
A |
T |
10: 34,028,503 (GRCm39) |
D862E |
probably benign |
Het |
| Etl4 |
A |
T |
2: 20,810,985 (GRCm39) |
T1023S |
possibly damaging |
Het |
| Fat4 |
T |
A |
3: 39,034,953 (GRCm39) |
N2868K |
probably damaging |
Het |
| Fgd5 |
G |
A |
6: 91,964,090 (GRCm39) |
|
probably null |
Het |
| Fsip2 |
C |
T |
2: 82,821,868 (GRCm39) |
T5867I |
possibly damaging |
Het |
| Fuca2 |
A |
G |
10: 13,381,695 (GRCm39) |
T203A |
probably benign |
Het |
| Gli2 |
T |
C |
1: 118,795,874 (GRCm39) |
I131V |
probably damaging |
Het |
| Gtpbp4 |
A |
G |
13: 9,040,759 (GRCm39) |
V122A |
possibly damaging |
Het |
| Kif1b |
G |
A |
4: 149,322,105 (GRCm39) |
T938I |
possibly damaging |
Het |
| Klhl29 |
T |
C |
12: 5,134,036 (GRCm39) |
D767G |
probably damaging |
Het |
| Mageb3 |
A |
G |
2: 121,784,847 (GRCm39) |
V285A |
probably benign |
Het |
| Myoc |
A |
G |
1: 162,467,185 (GRCm39) |
E118G |
possibly damaging |
Het |
| Nipal1 |
A |
T |
5: 72,825,073 (GRCm39) |
K255N |
probably damaging |
Het |
| Npr3 |
T |
C |
15: 11,883,410 (GRCm39) |
K340E |
possibly damaging |
Het |
| Obsl1 |
C |
A |
1: 75,473,155 (GRCm39) |
G1023C |
possibly damaging |
Het |
| Ogdh |
T |
C |
11: 6,284,545 (GRCm39) |
L188P |
probably damaging |
Het |
| Or51ac3 |
T |
C |
7: 103,214,471 (GRCm39) |
N5S |
probably benign |
Het |
| Or5v1 |
C |
T |
17: 37,810,271 (GRCm39) |
S243F |
probably damaging |
Het |
| Or9q1 |
T |
A |
19: 13,805,239 (GRCm39) |
I174F |
probably damaging |
Het |
| Otogl |
G |
A |
10: 107,604,842 (GRCm39) |
T2188M |
probably damaging |
Het |
| Pck1 |
G |
A |
2: 173,000,368 (GRCm39) |
V600I |
probably benign |
Het |
| Ranbp17 |
A |
G |
11: 33,454,708 (GRCm39) |
C42R |
probably damaging |
Het |
| Rapgef4 |
G |
A |
2: 71,861,469 (GRCm39) |
R53H |
probably benign |
Het |
| Rbm12 |
G |
A |
2: 155,938,995 (GRCm39) |
H426Y |
probably damaging |
Het |
| Retreg2 |
C |
T |
1: 75,123,356 (GRCm39) |
P428L |
probably benign |
Het |
| Rev3l |
G |
T |
10: 39,701,152 (GRCm39) |
S1883I |
probably damaging |
Het |
| Rinl |
CGGG |
CGGGGG |
7: 28,497,083 (GRCm39) |
|
probably null |
Het |
| Rora |
T |
C |
9: 69,282,717 (GRCm39) |
S356P |
probably damaging |
Het |
| Slc31a1 |
T |
C |
4: 62,307,008 (GRCm39) |
V188A |
probably damaging |
Het |
| Slc9a3 |
A |
G |
13: 74,306,879 (GRCm39) |
K335E |
probably damaging |
Het |
| Spata22 |
C |
A |
11: 73,235,504 (GRCm39) |
H274N |
possibly damaging |
Het |
| Srrm1 |
T |
C |
4: 135,048,722 (GRCm39) |
|
probably benign |
Het |
| Stab2 |
A |
T |
10: 86,803,550 (GRCm39) |
I333N |
possibly damaging |
Het |
| Supt5 |
A |
G |
7: 28,028,745 (GRCm39) |
Y153H |
possibly damaging |
Het |
| Tyk2 |
T |
C |
9: 21,021,883 (GRCm39) |
T825A |
probably benign |
Het |
| Usp20 |
G |
A |
2: 30,908,812 (GRCm39) |
V798M |
probably benign |
Het |
| Wdr26 |
A |
T |
1: 181,038,685 (GRCm39) |
D102E |
probably 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 |
|
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'- CGGGGATTGGAACCATGTAC -3'
(R):5'- TAAACTTGCACCAGGGTGG -3'
Sequencing Primer
(F):5'- CCATGTACAGTGACTAGCATTTGC -3'
(R):5'- ACCAGGGTGGGTAATGTCCATTTTAC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation