Incidental Mutation 'R6692:Nedd1'
ID |
527920 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nedd1
|
Ensembl Gene |
ENSMUSG00000019988 |
Gene Name |
neural precursor cell expressed, developmentally down-regulated gene 1 |
Synonyms |
|
MMRRC Submission |
044810-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.964)
|
Stock # |
R6692 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
92520608-92558282 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 92534199 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 317
(K317R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020163
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020163]
|
AlphaFold |
P33215 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020163
AA Change: K317R
PolyPhen 2
Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000020163 Gene: ENSMUSG00000019988 AA Change: K317R
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
|
Meta Mutation Damage Score |
0.0594 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.1%
|
Validation Efficiency |
100% (38/38) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahcyl1 |
C |
T |
3: 107,582,401 (GRCm39) |
G54D |
probably damaging |
Het |
Aldh1b1 |
T |
C |
4: 45,803,427 (GRCm39) |
C322R |
probably damaging |
Het |
Cdc14b |
T |
C |
13: 64,363,377 (GRCm39) |
I258V |
probably damaging |
Het |
Cenph |
T |
C |
13: 100,909,243 (GRCm39) |
I55V |
probably benign |
Het |
Cep290 |
T |
A |
10: 100,405,006 (GRCm39) |
|
probably null |
Het |
Ces2b |
A |
G |
8: 105,563,919 (GRCm39) |
Y431C |
probably damaging |
Het |
Cyp4f17 |
T |
C |
17: 32,725,950 (GRCm39) |
S28P |
possibly damaging |
Het |
Cyp4f40 |
C |
G |
17: 32,894,716 (GRCm39) |
T427S |
possibly damaging |
Het |
Exoc2 |
A |
G |
13: 31,119,490 (GRCm39) |
I137T |
probably benign |
Het |
Fam168b |
C |
A |
1: 34,875,822 (GRCm39) |
G21V |
probably damaging |
Het |
G3bp1 |
T |
A |
11: 55,384,335 (GRCm39) |
D168E |
probably benign |
Het |
Impg2 |
T |
A |
16: 56,072,696 (GRCm39) |
L376H |
probably damaging |
Het |
Kdm4d |
A |
T |
9: 14,374,361 (GRCm39) |
M499K |
probably benign |
Het |
Lonp1 |
C |
T |
17: 56,926,230 (GRCm39) |
V426M |
probably damaging |
Het |
Lypla2 |
C |
A |
4: 135,698,173 (GRCm39) |
A26S |
probably benign |
Het |
Map3k13 |
T |
C |
16: 21,723,987 (GRCm39) |
V323A |
possibly damaging |
Het |
Mdfic2 |
T |
G |
6: 98,225,169 (GRCm39) |
H38P |
possibly damaging |
Het |
Mov10 |
A |
G |
3: 104,725,360 (GRCm39) |
L83P |
probably damaging |
Het |
Mphosph9 |
G |
T |
5: 124,398,179 (GRCm39) |
A1039D |
probably damaging |
Het |
Or10ag55-ps1 |
A |
G |
2: 87,139,336 (GRCm39) |
T68A |
possibly damaging |
Het |
Pde3a |
T |
A |
6: 141,425,072 (GRCm39) |
S623T |
probably damaging |
Het |
Pld1 |
T |
A |
3: 28,095,348 (GRCm39) |
M227K |
probably benign |
Het |
Rell1 |
T |
G |
5: 64,095,210 (GRCm39) |
K85N |
probably damaging |
Het |
Rhbdf1 |
T |
C |
11: 32,165,652 (GRCm39) |
T93A |
probably damaging |
Het |
Sccpdh |
T |
A |
1: 179,511,792 (GRCm39) |
M88K |
possibly damaging |
Het |
Siae |
T |
G |
9: 37,554,095 (GRCm39) |
|
probably null |
Het |
Slc22a16 |
G |
A |
10: 40,479,901 (GRCm39) |
E637K |
unknown |
Het |
Stk19 |
C |
T |
17: 35,043,770 (GRCm39) |
G95S |
probably benign |
Het |
Stpg2 |
G |
A |
3: 139,228,738 (GRCm39) |
|
probably null |
Het |
Sult2a5 |
T |
A |
7: 13,358,057 (GRCm39) |
F30I |
probably damaging |
Het |
Svil |
A |
G |
18: 5,082,853 (GRCm39) |
E748G |
probably damaging |
Het |
Swap70 |
T |
A |
7: 109,869,126 (GRCm39) |
H306Q |
probably benign |
Het |
Try10 |
G |
A |
6: 41,334,755 (GRCm39) |
G227D |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,726,713 (GRCm39) |
|
probably benign |
Het |
Ttn |
T |
A |
2: 76,749,436 (GRCm39) |
H3871L |
probably benign |
Het |
Vmn1r231 |
T |
C |
17: 21,110,745 (GRCm39) |
I57V |
possibly damaging |
Het |
Vpreb1a |
A |
G |
16: 16,686,666 (GRCm39) |
S75P |
probably damaging |
Het |
Zkscan5 |
A |
G |
5: 145,157,894 (GRCm39) |
|
probably null |
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 |
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 |
|
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'- TAAGAGTTCCGTAACAAGGCAG -3'
(R):5'- TAGAGCAAAGTTCAGATATAGCAGC -3'
Sequencing Primer
(F):5'- TCTCTGACATAAGCAACATTACCTG -3'
(R):5'- GTTCAGATATAGCAGCAATCTTCAG -3'
|
Posted On |
2018-07-23 |