Incidental Mutation 'IGL00755:Ndnf'
| ID |
12426 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ndnf
|
| Ensembl Gene |
ENSMUSG00000049001 |
| Gene Name |
neuron-derived neurotrophic factor |
| Synonyms |
epidermacan, A930038C07Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.102)
|
| Stock # |
IGL00755
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
65648595-65689307 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 65680242 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 174
(P174S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000051297
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054351]
|
| AlphaFold |
Q8C119 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000054351
AA Change: P174S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000051297
Gene: ENSMUSG00000049001
AA Change: P174S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Blast:FN3
|
71 |
161 |
2e-33 |
BLAST |
|
FN3
|
174 |
324 |
5.75e-2 |
SMART |
|
FN3
|
445 |
554 |
1.62e0 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169795
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,492,102 (GRCm39) |
Y4381C |
possibly damaging |
Het |
| Card6 |
G |
A |
15: 5,128,423 (GRCm39) |
T991I |
possibly damaging |
Het |
| Cd163 |
A |
G |
6: 124,295,616 (GRCm39) |
N684S |
possibly damaging |
Het |
| Cep290 |
A |
G |
10: 100,366,966 (GRCm39) |
T1106A |
probably damaging |
Het |
| Cplx4 |
T |
A |
18: 66,090,166 (GRCm39) |
|
probably benign |
Het |
| Crygd |
C |
T |
1: 65,101,250 (GRCm39) |
R115Q |
probably benign |
Het |
| Dnah6 |
A |
T |
6: 73,189,417 (GRCm39) |
|
probably null |
Het |
| Dock8 |
A |
G |
19: 25,028,873 (GRCm39) |
K26E |
probably benign |
Het |
| Fancl |
G |
A |
11: 26,420,916 (GRCm39) |
V349I |
probably benign |
Het |
| Gsg1l |
A |
G |
7: 125,522,598 (GRCm39) |
F210S |
possibly damaging |
Het |
| Mboat2 |
T |
A |
12: 25,007,645 (GRCm39) |
V419E |
probably benign |
Het |
| Mycbp2 |
A |
G |
14: 103,432,057 (GRCm39) |
V2327A |
possibly damaging |
Het |
| Nlrp9b |
A |
T |
7: 19,757,447 (GRCm39) |
D228V |
probably damaging |
Het |
| Prps2 |
A |
T |
X: 166,157,138 (GRCm39) |
I56N |
possibly damaging |
Het |
| Reln |
A |
G |
5: 22,265,378 (GRCm39) |
V438A |
probably damaging |
Het |
| Rmdn1 |
T |
A |
4: 19,580,401 (GRCm39) |
N42K |
probably benign |
Het |
| Sass6 |
G |
A |
3: 116,411,977 (GRCm39) |
E312K |
probably damaging |
Het |
| Scrn1 |
T |
A |
6: 54,497,694 (GRCm39) |
D299V |
possibly damaging |
Het |
| Slk |
T |
A |
19: 47,597,449 (GRCm39) |
C86S |
probably damaging |
Het |
| Veph1 |
C |
T |
3: 66,162,431 (GRCm39) |
E76K |
probably damaging |
Het |
| Zfp282 |
C |
T |
6: 47,857,324 (GRCm39) |
P186S |
probably damaging |
Het |
|
| Other mutations in Ndnf |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01737:Ndnf
|
APN |
6 |
65,680,539 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL03000:Ndnf
|
APN |
6 |
65,680,299 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03236:Ndnf
|
APN |
6 |
65,673,156 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL03373:Ndnf
|
APN |
6 |
65,681,272 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
K3955:Ndnf
|
UTSW |
6 |
65,678,413 (GRCm39) |
splice site |
probably benign |
|
|
R1457:Ndnf
|
UTSW |
6 |
65,680,998 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1670:Ndnf
|
UTSW |
6 |
65,680,054 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1687:Ndnf
|
UTSW |
6 |
65,680,407 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1909:Ndnf
|
UTSW |
6 |
65,680,297 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3951:Ndnf
|
UTSW |
6 |
65,680,125 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4043:Ndnf
|
UTSW |
6 |
65,680,920 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4465:Ndnf
|
UTSW |
6 |
65,681,180 (GRCm39) |
missense |
probably benign |
|
|
R4983:Ndnf
|
UTSW |
6 |
65,680,555 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5271:Ndnf
|
UTSW |
6 |
65,680,650 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R6785:Ndnf
|
UTSW |
6 |
65,680,047 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7874:Ndnf
|
UTSW |
6 |
65,680,413 (GRCm39) |
missense |
probably benign |
|
|
R8049:Ndnf
|
UTSW |
6 |
65,680,414 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8398:Ndnf
|
UTSW |
6 |
65,681,362 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8729:Ndnf
|
UTSW |
6 |
65,680,758 (GRCm39) |
nonsense |
probably null |
|
|
R8853:Ndnf
|
UTSW |
6 |
65,680,161 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9567:Ndnf
|
UTSW |
6 |
65,681,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9755:Ndnf
|
UTSW |
6 |
65,680,502 (GRCm39) |
missense |
probably benign |
|
|
RF017:Ndnf
|
UTSW |
6 |
65,681,313 (GRCm39) |
missense |
probably damaging |
0.97 |
|
X0066:Ndnf
|
UTSW |
6 |
65,678,501 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2012-12-06 |
Incidental Mutation