Incidental Mutation 'IGL02706:Nedd1'
| ID |
304323 |
| 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 # |
IGL02706
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
92520608-92558282 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 92522147 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 630
(H630R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020163
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020163]
|
| AlphaFold |
P33215 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020163
AA Change: H630R
PolyPhen 2
Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000020163
Gene: ENSMUSG00000019988
AA Change: H630R
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
T |
C |
17: 24,517,966 (GRCm39) |
E781G |
probably benign |
Het |
| Abcc8 |
C |
T |
7: 45,816,345 (GRCm39) |
R265Q |
probably benign |
Het |
| Agtr1b |
A |
T |
3: 20,370,027 (GRCm39) |
I193N |
probably benign |
Het |
| Atp6v1e2 |
A |
G |
17: 87,252,362 (GRCm39) |
I12T |
probably damaging |
Het |
| Cacna1g |
T |
C |
11: 94,347,818 (GRCm39) |
T757A |
probably damaging |
Het |
| Cldn15 |
A |
G |
5: 137,003,685 (GRCm39) |
K200R |
probably benign |
Het |
| Dip2b |
G |
T |
15: 100,113,192 (GRCm39) |
V1302F |
probably damaging |
Het |
| Dnajb6 |
T |
A |
5: 29,957,421 (GRCm39) |
Y68N |
probably damaging |
Het |
| Dok1 |
T |
A |
6: 83,009,315 (GRCm39) |
E179V |
probably damaging |
Het |
| Epha4 |
T |
C |
1: 77,403,482 (GRCm39) |
T342A |
probably damaging |
Het |
| Etf1 |
A |
T |
18: 35,064,690 (GRCm39) |
S6R |
possibly damaging |
Het |
| Fryl |
T |
C |
5: 73,250,506 (GRCm39) |
I987V |
probably benign |
Het |
| Gba2 |
C |
T |
4: 43,567,257 (GRCm39) |
G897S |
probably benign |
Het |
| Habp2 |
G |
T |
19: 56,298,570 (GRCm39) |
|
probably null |
Het |
| Hapln1 |
G |
T |
13: 89,753,578 (GRCm39) |
S248I |
possibly damaging |
Het |
| Hydin |
A |
G |
8: 111,137,198 (GRCm39) |
D667G |
probably damaging |
Het |
| Kcnma1 |
T |
A |
14: 23,359,222 (GRCm39) |
H1074L |
probably damaging |
Het |
| Kctd9 |
T |
C |
14: 67,962,130 (GRCm39) |
|
probably null |
Het |
| L3mbtl4 |
A |
G |
17: 68,793,914 (GRCm39) |
D306G |
probably damaging |
Het |
| Lgalsl |
T |
C |
11: 20,780,090 (GRCm39) |
R49G |
probably damaging |
Het |
| Lpo |
C |
T |
11: 87,708,599 (GRCm39) |
S133N |
probably benign |
Het |
| Lrp8 |
A |
T |
4: 107,660,516 (GRCm39) |
R59* |
probably null |
Het |
| Mctp1 |
T |
C |
13: 76,971,188 (GRCm39) |
F629S |
probably damaging |
Het |
| Med1 |
A |
G |
11: 98,047,533 (GRCm39) |
|
probably benign |
Het |
| Nbea |
T |
C |
3: 55,944,699 (GRCm39) |
H555R |
probably damaging |
Het |
| Nr3c2 |
A |
T |
8: 77,635,045 (GRCm39) |
|
probably null |
Het |
| Nubp2 |
A |
T |
17: 25,102,171 (GRCm39) |
V267E |
probably benign |
Het |
| Oacyl |
A |
T |
18: 65,882,792 (GRCm39) |
Y629F |
probably damaging |
Het |
| Or1n1b |
A |
G |
2: 36,780,731 (GRCm39) |
I43T |
probably damaging |
Het |
| Or1x2 |
T |
A |
11: 50,918,091 (GRCm39) |
H87Q |
probably damaging |
Het |
| Or5b119 |
A |
T |
19: 13,457,462 (GRCm39) |
Y33* |
probably null |
Het |
| Pknox2 |
T |
C |
9: 36,847,675 (GRCm39) |
H114R |
probably benign |
Het |
| Ppp2r1b |
A |
G |
9: 50,790,134 (GRCm39) |
D564G |
possibly damaging |
Het |
| Ppp3ca |
T |
G |
3: 136,611,079 (GRCm39) |
N367K |
possibly damaging |
Het |
| Ptprn2 |
T |
C |
12: 116,852,518 (GRCm39) |
V525A |
probably damaging |
Het |
| Reps1 |
T |
G |
10: 17,998,763 (GRCm39) |
|
probably benign |
Het |
| Rgs11 |
G |
A |
17: 26,426,605 (GRCm39) |
V279I |
probably benign |
Het |
| Sipa1l1 |
A |
G |
12: 82,444,207 (GRCm39) |
I973V |
possibly damaging |
Het |
| Ssh2 |
T |
A |
11: 77,344,232 (GRCm39) |
V739D |
possibly damaging |
Het |
| Tbc1d24 |
A |
G |
17: 24,404,395 (GRCm39) |
F250L |
probably benign |
Het |
| Ube3a |
T |
A |
7: 58,921,881 (GRCm39) |
H84Q |
possibly damaging |
Het |
| Usp34 |
T |
C |
11: 23,338,659 (GRCm39) |
|
probably benign |
Het |
| Zdhhc8 |
G |
T |
16: 18,042,758 (GRCm39) |
L481I |
probably damaging |
Het |
| Zfp574 |
A |
G |
7: 24,780,790 (GRCm39) |
H604R |
probably damaging |
Het |
| Zfp945 |
A |
T |
17: 23,076,256 (GRCm39) |
M63K |
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 |
|
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 |
|
|
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 |
2015-04-16 |
Incidental Mutation