Incidental Mutation 'IGL03373:Ndnf'
| ID |
420387 |
| 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 # |
IGL03373
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
65648595-65689307 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 65681272 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Serine
at position 517
(Y517S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000051297
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054351]
|
| AlphaFold |
Q8C119 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000054351
AA Change: Y517S
PolyPhen 2
Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000051297
Gene: ENSMUSG00000049001
AA Change: Y517S
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6a |
A |
T |
12: 113,509,172 (GRCm39) |
Y515F |
possibly damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,711,751 (GRCm39) |
V1075A |
probably damaging |
Het |
| Alox8 |
T |
C |
11: 69,077,443 (GRCm39) |
T436A |
probably benign |
Het |
| Cdc7 |
T |
A |
5: 107,120,785 (GRCm39) |
|
probably benign |
Het |
| Cdhr1 |
T |
A |
14: 36,818,257 (GRCm39) |
D65V |
possibly damaging |
Het |
| Dnase1 |
A |
G |
16: 3,857,707 (GRCm39) |
E278G |
probably damaging |
Het |
| Eif3g |
A |
T |
9: 20,805,722 (GRCm39) |
|
probably benign |
Het |
| Flnb |
G |
A |
14: 7,890,867 (GRCm38) |
|
probably null |
Het |
| Hars2 |
G |
T |
18: 36,918,998 (GRCm39) |
R86L |
probably damaging |
Het |
| Lmod1 |
C |
T |
1: 135,292,264 (GRCm39) |
A373V |
possibly damaging |
Het |
| Mdga2 |
A |
G |
12: 66,763,496 (GRCm39) |
I200T |
probably damaging |
Het |
| Mup1 |
T |
G |
4: 60,457,849 (GRCm39) |
|
probably benign |
Het |
| Nat8f5 |
A |
C |
6: 85,794,529 (GRCm39) |
S144A |
probably benign |
Het |
| Nedd4l |
G |
A |
18: 65,314,391 (GRCm39) |
|
probably benign |
Het |
| Nlrp4g |
A |
T |
9: 124,349,853 (GRCm38) |
|
noncoding transcript |
Het |
| Nob1 |
C |
T |
8: 108,144,678 (GRCm39) |
|
probably benign |
Het |
| Nploc4 |
G |
A |
11: 120,300,455 (GRCm39) |
R326* |
probably null |
Het |
| Obox3 |
A |
T |
7: 15,359,715 (GRCm39) |
V318D |
probably benign |
Het |
| Or10a3m |
G |
A |
7: 108,313,339 (GRCm39) |
V248I |
probably damaging |
Het |
| Or10ag57 |
T |
C |
2: 87,218,577 (GRCm39) |
F176S |
probably damaging |
Het |
| Pgm1 |
T |
C |
4: 99,818,741 (GRCm39) |
I130T |
probably damaging |
Het |
| Ptprk |
A |
T |
10: 28,442,533 (GRCm39) |
D845V |
probably damaging |
Het |
| Ptx4 |
T |
A |
17: 25,339,873 (GRCm39) |
S17T |
probably benign |
Het |
| Rasgrf1 |
T |
C |
9: 89,899,084 (GRCm39) |
|
probably benign |
Het |
| Rfx6 |
A |
G |
10: 51,596,096 (GRCm39) |
T426A |
probably damaging |
Het |
| Sfpq |
C |
A |
4: 126,920,578 (GRCm39) |
R564S |
possibly damaging |
Het |
| Spint2 |
A |
G |
7: 28,957,634 (GRCm39) |
|
probably benign |
Het |
| Vmn1r27 |
A |
G |
6: 58,192,689 (GRCm39) |
I105T |
probably damaging |
Het |
| Vmn1r78 |
T |
C |
7: 11,887,270 (GRCm39) |
S294P |
possibly damaging |
Het |
| Vmn2r40 |
T |
C |
7: 8,923,092 (GRCm39) |
D423G |
probably benign |
Het |
|
| Other mutations in Ndnf |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00755:Ndnf
|
APN |
6 |
65,680,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation