Incidental Mutation 'R8104:Nedd1'
| ID |
630654 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nedd1
|
| Ensembl Gene |
ENSMUSG00000019988 |
| Gene Name |
neural precursor cell expressed, developmentally down-regulated gene 1 |
| Synonyms |
|
| MMRRC Submission |
067535-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.965)
|
| Stock # |
R8104 (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 92527778 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 472
(E472G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020163
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020163]
|
| AlphaFold |
P33215 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020163
AA Change: E472G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020163
Gene: ENSMUSG00000019988
AA Change: E472G
| 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 |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.5%
- 10x: 98.6%
- 20x: 94.6%
|
| Validation Efficiency |
98% (54/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg2 |
C |
A |
17: 57,152,443 (GRCm39) |
L666F |
probably benign |
Het |
| Adgrv1 |
A |
T |
13: 81,588,344 (GRCm39) |
V4414E |
possibly damaging |
Het |
| Apoc3 |
T |
G |
9: 46,144,585 (GRCm39) |
D79A |
probably damaging |
Het |
| Arfgap1 |
T |
A |
2: 180,621,022 (GRCm39) |
|
probably null |
Het |
| Ascc1 |
T |
C |
10: 59,843,551 (GRCm39) |
S38P |
probably benign |
Het |
| Asl |
C |
T |
5: 130,040,791 (GRCm39) |
E389K |
probably benign |
Het |
| Atat1 |
A |
T |
17: 36,215,008 (GRCm39) |
I215K |
probably benign |
Het |
| Bod1l |
A |
T |
5: 41,991,075 (GRCm39) |
L160* |
probably null |
Het |
| Cbl |
C |
A |
9: 44,069,836 (GRCm39) |
S637I |
possibly damaging |
Het |
| Ccdc112 |
A |
C |
18: 46,420,720 (GRCm39) |
S343R |
probably benign |
Het |
| Cr1l |
A |
G |
1: 194,799,925 (GRCm39) |
S250P |
possibly damaging |
Het |
| Cspg4b |
T |
A |
13: 113,456,263 (GRCm39) |
F770I |
|
Het |
| Dlgap3 |
A |
G |
4: 127,129,947 (GRCm39) |
E907G |
probably damaging |
Het |
| Dsp |
A |
T |
13: 38,352,600 (GRCm39) |
E159D |
probably benign |
Het |
| Ech1 |
G |
A |
7: 28,524,728 (GRCm39) |
|
probably benign |
Het |
| Erbin |
G |
T |
13: 103,971,485 (GRCm39) |
N710K |
possibly damaging |
Het |
| Fbxw28 |
A |
T |
9: 109,155,357 (GRCm39) |
|
probably null |
Het |
| Gm4871 |
G |
C |
5: 144,969,012 (GRCm39) |
D100E |
probably damaging |
Het |
| Got1l1 |
A |
G |
8: 27,687,619 (GRCm39) |
I388T |
probably damaging |
Het |
| Ing5 |
T |
A |
1: 93,744,166 (GRCm39) |
N184K |
probably damaging |
Het |
| Izumo3 |
A |
T |
4: 92,035,145 (GRCm39) |
L24* |
probably null |
Het |
| Lig1 |
T |
C |
7: 13,020,491 (GRCm39) |
V99A |
possibly damaging |
Het |
| Mbtps1 |
A |
G |
8: 120,255,794 (GRCm39) |
Y488H |
possibly damaging |
Het |
| Muc5ac |
A |
G |
7: 141,358,520 (GRCm39) |
Y1240C |
possibly damaging |
Het |
| Nav3 |
T |
C |
10: 109,594,828 (GRCm39) |
T1458A |
probably damaging |
Het |
| Nod2 |
A |
T |
8: 89,391,685 (GRCm39) |
H664L |
possibly damaging |
Het |
| Ntrk3 |
A |
G |
7: 78,227,450 (GRCm39) |
S28P |
probably damaging |
Het |
| Or14a257 |
A |
G |
7: 86,138,231 (GRCm39) |
F176S |
probably damaging |
Het |
| Or1i2 |
C |
T |
10: 78,448,242 (GRCm39) |
V78I |
probably benign |
Het |
| Or2ag17 |
T |
A |
7: 106,390,338 (GRCm39) |
|
probably benign |
Het |
| Or2ag17 |
C |
A |
7: 106,390,337 (GRCm39) |
|
probably benign |
Het |
| Or6c66b |
T |
A |
10: 129,376,826 (GRCm39) |
M140K |
probably benign |
Het |
| Pcdha4 |
G |
T |
18: 37,087,106 (GRCm39) |
G430W |
probably damaging |
Het |
| Pcnx1 |
T |
A |
12: 82,030,385 (GRCm39) |
Y1114* |
probably null |
Het |
| Pde6a |
T |
A |
18: 61,364,566 (GRCm39) |
D207E |
probably damaging |
Het |
| Plekhg1 |
T |
A |
10: 3,902,326 (GRCm39) |
I540N |
|
Het |
| Pnp2 |
A |
T |
14: 51,197,099 (GRCm39) |
I62F |
probably benign |
Het |
| Rarg |
C |
A |
15: 102,148,334 (GRCm39) |
D258Y |
probably damaging |
Het |
| Rnps1 |
T |
A |
17: 24,643,484 (GRCm39) |
M262K |
unknown |
Het |
| Scaf11 |
T |
C |
15: 96,316,483 (GRCm39) |
D1027G |
probably benign |
Het |
| Serpina3a |
A |
T |
12: 104,079,110 (GRCm39) |
|
probably benign |
Het |
| Slc25a1 |
A |
G |
16: 17,744,297 (GRCm39) |
|
probably null |
Het |
| Slc44a3 |
A |
C |
3: 121,291,521 (GRCm39) |
V365G |
probably benign |
Het |
| Slc45a3 |
T |
C |
1: 131,904,754 (GRCm39) |
F26L |
probably benign |
Het |
| Slc9a2 |
T |
A |
1: 40,757,809 (GRCm39) |
I116K |
probably damaging |
Het |
| Stk36 |
T |
A |
1: 74,665,756 (GRCm39) |
S700T |
probably benign |
Het |
| Tekt3 |
A |
G |
11: 62,968,945 (GRCm39) |
D224G |
probably benign |
Het |
| Tgtp1 |
A |
T |
11: 48,877,841 (GRCm39) |
I288N |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,710,567 (GRCm39) |
V8485M |
unknown |
Het |
| Tubg1 |
G |
T |
11: 101,014,854 (GRCm39) |
A199S |
probably benign |
Het |
| Uso1 |
T |
A |
5: 92,306,280 (GRCm39) |
I79K |
probably damaging |
Het |
| Utp20 |
C |
T |
10: 88,593,766 (GRCm39) |
D2215N |
probably damaging |
Het |
| Wdr43 |
C |
T |
17: 71,923,350 (GRCm39) |
A32V |
probably benign |
Het |
| Zfp704 |
T |
C |
3: 9,630,301 (GRCm39) |
D170G |
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 |
|
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 |
|
|
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'- TTGACAGGCTCCAGAAGTGTTC -3'
(R):5'- TGCTTATACCCAGTGTTTAGGG -3'
Sequencing Primer
(F):5'- GTGTTCTTCAGTGATTAAAAACTGGC -3'
(R):5'- GTTGGGAGACATCTTAAGCATATGGC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation