Incidental Mutation 'IGL01737:Ndnf'
| ID |
105735 |
| 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 # |
IGL01737
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
65648595-65689307 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 65680539 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 273
(S273T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000051297
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054351]
|
| AlphaFold |
Q8C119 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054351
AA Change: S273T
PolyPhen 2
Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000051297
Gene: ENSMUSG00000049001
AA Change: S273T
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts6 |
A |
G |
13: 104,526,643 (GRCm39) |
I524V |
probably damaging |
Het |
| Atxn2 |
T |
A |
5: 121,935,407 (GRCm39) |
M336K |
probably damaging |
Het |
| Bcr |
T |
A |
10: 74,990,783 (GRCm39) |
F763Y |
probably damaging |
Het |
| Bdnf |
A |
G |
2: 109,554,100 (GRCm39) |
Y158C |
probably damaging |
Het |
| Ccdc92 |
T |
C |
5: 124,912,920 (GRCm39) |
E203G |
probably damaging |
Het |
| Cyp2j12 |
T |
C |
4: 96,010,895 (GRCm39) |
*72W |
probably null |
Het |
| Def6 |
G |
T |
17: 28,442,701 (GRCm39) |
R288L |
possibly damaging |
Het |
| Foxn1 |
T |
G |
11: 78,251,732 (GRCm39) |
S500R |
possibly damaging |
Het |
| Gss |
T |
C |
2: 155,409,726 (GRCm39) |
K77E |
probably damaging |
Het |
| Habp2 |
G |
A |
19: 56,304,739 (GRCm39) |
G410D |
probably benign |
Het |
| Krt36 |
A |
T |
11: 99,994,946 (GRCm39) |
C209S |
possibly damaging |
Het |
| Mmrn1 |
T |
C |
6: 60,954,145 (GRCm39) |
F809L |
probably benign |
Het |
| Mptx2 |
C |
A |
1: 173,102,408 (GRCm39) |
V94F |
probably damaging |
Het |
| Myh4 |
G |
T |
11: 67,134,245 (GRCm39) |
|
probably benign |
Het |
| N4bp2l1 |
G |
T |
5: 150,517,781 (GRCm39) |
H41N |
possibly damaging |
Het |
| Nt5c1b |
A |
T |
12: 10,440,108 (GRCm39) |
Y624F |
possibly damaging |
Het |
| Prss8 |
C |
T |
7: 127,525,752 (GRCm39) |
V256M |
probably damaging |
Het |
| Ramp1 |
T |
C |
1: 91,150,821 (GRCm39) |
|
probably benign |
Het |
| Sf3b2 |
A |
G |
19: 5,329,866 (GRCm39) |
|
probably benign |
Het |
| Tfdp2 |
G |
A |
9: 96,182,465 (GRCm39) |
R235Q |
possibly damaging |
Het |
| Tle1 |
C |
T |
4: 72,116,058 (GRCm39) |
|
probably benign |
Het |
| Tmprss11e |
A |
G |
5: 86,867,593 (GRCm39) |
V159A |
probably damaging |
Het |
| Trim12c |
A |
G |
7: 103,997,269 (GRCm39) |
C96R |
probably damaging |
Het |
| Usp24 |
A |
G |
4: 106,244,931 (GRCm39) |
D1256G |
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 |
|
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 |
2014-01-21 |
Incidental Mutation