Incidental Mutation 'IGL01988:Nedd1'
| ID |
182006 |
| 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: 0.963)
|
| Stock # |
IGL01988
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
92684746-92722420 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 92714159 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 88
(T88K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020163
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020163]
[ENSMUST00000216086]
|
| AlphaFold |
P33215 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020163
AA Change: T88K
PolyPhen 2
Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000020163
Gene: ENSMUSG00000019988
AA Change: T88K
| 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: ENSMUST00000213901
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214417
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215970
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216086
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330159F19Rik |
T |
A |
10: 29,225,111 (GRCm38) |
S493R |
probably benign |
Het |
| Abca17 |
T |
C |
17: 24,334,255 (GRCm38) |
N161D |
probably damaging |
Het |
| Ace2 |
C |
A |
X: 164,163,992 (GRCm38) |
N290K |
possibly damaging |
Het |
| Adam26a |
G |
A |
8: 43,569,170 (GRCm38) |
P428S |
possibly damaging |
Het |
| Adgrv1 |
T |
C |
13: 81,557,309 (GRCm38) |
R1461G |
probably damaging |
Het |
| Arhgef10l |
T |
C |
4: 140,578,361 (GRCm38) |
|
probably benign |
Het |
| Bicc1 |
A |
G |
10: 70,956,176 (GRCm38) |
V334A |
probably damaging |
Het |
| C8a |
T |
C |
4: 104,826,694 (GRCm38) |
Y408C |
probably damaging |
Het |
| Col24a1 |
T |
C |
3: 145,524,167 (GRCm38) |
|
probably null |
Het |
| Copa |
T |
A |
1: 172,118,264 (GRCm38) |
N931K |
probably benign |
Het |
| Cr1l |
A |
G |
1: 195,117,550 (GRCm38) |
M272T |
probably damaging |
Het |
| Dcaf12 |
T |
C |
4: 41,298,299 (GRCm38) |
N283S |
probably benign |
Het |
| Dnttip2 |
T |
A |
3: 122,276,295 (GRCm38) |
S386R |
probably benign |
Het |
| Fbll1 |
G |
T |
11: 35,797,901 (GRCm38) |
D178E |
probably benign |
Het |
| Fgd6 |
A |
G |
10: 94,074,335 (GRCm38) |
|
probably benign |
Het |
| Fyn |
T |
A |
10: 39,533,921 (GRCm38) |
L408* |
probably null |
Het |
| Gkn2 |
T |
C |
6: 87,379,275 (GRCm38) |
V176A |
probably benign |
Het |
| Gm10764 |
G |
A |
10: 87,291,091 (GRCm38) |
C120Y |
unknown |
Het |
| Gpr19 |
A |
T |
6: 134,869,284 (GRCm38) |
F442I |
probably damaging |
Het |
| Herc1 |
A |
G |
9: 66,488,075 (GRCm38) |
|
probably benign |
Het |
| Il7 |
A |
G |
3: 7,604,066 (GRCm38) |
Y37H |
possibly damaging |
Het |
| Kcnj3 |
G |
A |
2: 55,437,231 (GRCm38) |
D11N |
probably benign |
Het |
| Kif1c |
A |
G |
11: 70,704,936 (GRCm38) |
D156G |
probably damaging |
Het |
| Lrch1 |
T |
C |
14: 74,795,373 (GRCm38) |
|
probably benign |
Het |
| Nlrc3 |
T |
G |
16: 3,953,939 (GRCm38) |
S875R |
probably benign |
Het |
| Olfr1251 |
T |
A |
2: 89,667,080 (GRCm38) |
I269F |
probably benign |
Het |
| Optc |
A |
G |
1: 133,906,929 (GRCm38) |
|
probably null |
Het |
| Pcdh17 |
T |
A |
14: 84,446,622 (GRCm38) |
D176E |
probably damaging |
Het |
| Pde1b |
A |
G |
15: 103,524,856 (GRCm38) |
|
probably null |
Het |
| Phf11a |
A |
T |
14: 59,277,358 (GRCm38) |
D291E |
probably damaging |
Het |
| Slc30a8 |
A |
T |
15: 52,335,205 (GRCm38) |
I349L |
probably benign |
Het |
| Spty2d1 |
T |
A |
7: 46,997,610 (GRCm38) |
S524C |
probably damaging |
Het |
| Syndig1 |
T |
C |
2: 150,003,170 (GRCm38) |
|
probably benign |
Het |
| Syvn1 |
G |
A |
19: 6,052,407 (GRCm38) |
A502T |
probably benign |
Het |
| Tenm2 |
A |
G |
11: 36,027,251 (GRCm38) |
L1894P |
probably damaging |
Het |
| Tmem176a |
T |
A |
6: 48,842,620 (GRCm38) |
V11E |
possibly damaging |
Het |
| Tpr |
G |
T |
1: 150,426,999 (GRCm38) |
|
probably null |
Het |
| Txnrd2 |
T |
C |
16: 18,456,018 (GRCm38) |
|
probably benign |
Het |
| Ubqln3 |
G |
A |
7: 104,142,882 (GRCm38) |
|
probably benign |
Het |
| Vmn1r6 |
C |
T |
6: 57,002,665 (GRCm38) |
T82I |
probably damaging |
Het |
| Wdfy4 |
C |
T |
14: 33,076,480 (GRCm38) |
E1990K |
possibly damaging |
Het |
| Zdhhc7 |
T |
C |
8: 120,082,590 (GRCm38) |
R293G |
probably benign |
Het |
| Zeb1 |
T |
A |
18: 5,759,037 (GRCm38) |
L148* |
probably null |
Het |
|
| Other mutations in Nedd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00764:Nedd1
|
APN |
10 |
92,694,974 (GRCm38) |
splice site |
probably benign |
|
|
IGL00988:Nedd1
|
APN |
10 |
92,689,686 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
IGL01563:Nedd1
|
APN |
10 |
92,698,169 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL01588:Nedd1
|
APN |
10 |
92,686,262 (GRCm38) |
missense |
probably benign |
0.12 |
|
IGL02706:Nedd1
|
APN |
10 |
92,686,285 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
IGL02938:Nedd1
|
APN |
10 |
92,689,657 (GRCm38) |
nonsense |
probably null |
|
|
IGL03011:Nedd1
|
APN |
10 |
92,689,641 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
Brainless
|
UTSW |
10 |
92,690,773 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0125:Nedd1
|
UTSW |
10 |
92,691,929 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R0173:Nedd1
|
UTSW |
10 |
92,698,883 (GRCm38) |
missense |
probably benign |
0.30 |
|
R0244:Nedd1
|
UTSW |
10 |
92,716,265 (GRCm38) |
intron |
probably benign |
|
|
R0645:Nedd1
|
UTSW |
10 |
92,691,831 (GRCm38) |
splice site |
probably null |
|
|
R0791:Nedd1
|
UTSW |
10 |
92,719,614 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1490:Nedd1
|
UTSW |
10 |
92,700,798 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1522:Nedd1
|
UTSW |
10 |
92,719,614 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1797:Nedd1
|
UTSW |
10 |
92,698,739 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R1984:Nedd1
|
UTSW |
10 |
92,714,160 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R2474:Nedd1
|
UTSW |
10 |
92,719,603 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2877:Nedd1
|
UTSW |
10 |
92,714,126 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R2883:Nedd1
|
UTSW |
10 |
92,694,998 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4694:Nedd1
|
UTSW |
10 |
92,719,582 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4798:Nedd1
|
UTSW |
10 |
92,698,910 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4830:Nedd1
|
UTSW |
10 |
92,686,258 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4963:Nedd1
|
UTSW |
10 |
92,695,031 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5174:Nedd1
|
UTSW |
10 |
92,711,212 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R5329:Nedd1
|
UTSW |
10 |
92,686,240 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5404:Nedd1
|
UTSW |
10 |
92,716,192 (GRCm38) |
missense |
probably benign |
0.04 |
|
R5534:Nedd1
|
UTSW |
10 |
92,695,032 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6045:Nedd1
|
UTSW |
10 |
92,695,100 (GRCm38) |
nonsense |
probably null |
|
|
R6154:Nedd1
|
UTSW |
10 |
92,698,242 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R6512:Nedd1
|
UTSW |
10 |
92,691,875 (GRCm38) |
missense |
probably benign |
|
|
R6692:Nedd1
|
UTSW |
10 |
92,698,337 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R6693:Nedd1
|
UTSW |
10 |
92,698,337 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R6943:Nedd1
|
UTSW |
10 |
92,711,306 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7011:Nedd1
|
UTSW |
10 |
92,690,773 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7406:Nedd1
|
UTSW |
10 |
92,711,323 (GRCm38) |
splice site |
probably null |
|
|
R7455:Nedd1
|
UTSW |
10 |
92,700,925 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7587:Nedd1
|
UTSW |
10 |
92,698,730 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7745:Nedd1
|
UTSW |
10 |
92,714,172 (GRCm38) |
missense |
probably benign |
|
|
R8104:Nedd1
|
UTSW |
10 |
92,691,916 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8209:Nedd1
|
UTSW |
10 |
92,691,935 (GRCm38) |
missense |
probably benign |
|
|
R8226:Nedd1
|
UTSW |
10 |
92,691,935 (GRCm38) |
missense |
probably benign |
|
|
R8925:Nedd1
|
UTSW |
10 |
92,722,396 (GRCm38) |
start gained |
probably benign |
|
|
R8927:Nedd1
|
UTSW |
10 |
92,722,396 (GRCm38) |
start gained |
probably benign |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation