Incidental Mutation 'R4465:Ndnf'
ID |
330303 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ndnf
|
Ensembl Gene |
ENSMUSG00000049001 |
Gene Name |
neuron-derived neurotrophic factor |
Synonyms |
epidermacan, A930038C07Rik |
MMRRC Submission |
041580-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.102)
|
Stock # |
R4465 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
65648595-65689307 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 65681180 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 486
(D486E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000051297
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054351]
|
AlphaFold |
Q8C119 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000054351
AA Change: D486E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000051297 Gene: ENSMUSG00000049001 AA Change: D486E
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 |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610040J01Rik |
G |
T |
5: 64,056,182 (GRCm39) |
|
probably benign |
Het |
Acsbg2 |
A |
G |
17: 57,168,580 (GRCm39) |
Y180H |
probably damaging |
Het |
Adgrb3 |
G |
T |
1: 25,133,447 (GRCm39) |
T1213K |
probably damaging |
Het |
Atrn |
A |
G |
2: 130,802,388 (GRCm39) |
T510A |
probably benign |
Het |
Clasp1 |
C |
A |
1: 118,488,808 (GRCm39) |
T857N |
probably damaging |
Het |
Cldn8 |
A |
C |
16: 88,359,619 (GRCm39) |
M102R |
probably damaging |
Het |
Col12a1 |
C |
A |
9: 79,580,192 (GRCm39) |
V1562F |
possibly damaging |
Het |
Cyp4f40 |
T |
A |
17: 32,890,186 (GRCm39) |
D285E |
probably benign |
Het |
Dis3 |
G |
A |
14: 99,321,550 (GRCm39) |
S599L |
possibly damaging |
Het |
Dnah11 |
T |
C |
12: 117,951,186 (GRCm39) |
T3041A |
probably benign |
Het |
Erbin |
T |
C |
13: 103,981,393 (GRCm39) |
N511D |
probably benign |
Het |
F11 |
T |
A |
8: 45,694,511 (GRCm39) |
I617F |
probably damaging |
Het |
Gm11541 |
A |
T |
11: 94,595,048 (GRCm39) |
C7S |
unknown |
Het |
Klk12 |
A |
T |
7: 43,422,807 (GRCm39) |
R245W |
probably damaging |
Het |
Lao1 |
C |
A |
4: 118,822,504 (GRCm39) |
S141R |
probably benign |
Het |
Lrrk2 |
A |
G |
15: 91,632,023 (GRCm39) |
K1316E |
probably damaging |
Het |
Map3k6 |
A |
G |
4: 132,973,644 (GRCm39) |
Y445C |
possibly damaging |
Het |
Mup6 |
T |
C |
4: 60,004,000 (GRCm39) |
I31T |
probably damaging |
Het |
Or2a54 |
T |
C |
6: 43,092,852 (GRCm39) |
Y59H |
probably damaging |
Het |
Or8h7 |
A |
T |
2: 86,721,494 (GRCm39) |
N8K |
probably benign |
Het |
Or8k37 |
A |
T |
2: 86,469,478 (GRCm39) |
N191K |
probably benign |
Het |
Rab19 |
T |
C |
6: 39,365,060 (GRCm39) |
S107P |
probably damaging |
Het |
Slc22a29 |
A |
T |
19: 8,140,088 (GRCm39) |
L439* |
probably null |
Het |
Slc5a1 |
A |
G |
5: 33,303,860 (GRCm39) |
E225G |
possibly damaging |
Het |
Slx4 |
A |
G |
16: 3,806,919 (GRCm39) |
V508A |
possibly damaging |
Het |
Snx25 |
A |
G |
8: 46,521,266 (GRCm39) |
S373P |
possibly damaging |
Het |
Stag2 |
A |
G |
X: 41,322,749 (GRCm39) |
S400G |
probably benign |
Homo |
Tas2r107 |
A |
G |
6: 131,636,972 (GRCm39) |
Y26H |
probably benign |
Het |
Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
Zdhhc22 |
G |
A |
12: 87,034,997 (GRCm39) |
L152F |
probably benign |
Het |
Zfpm2 |
T |
G |
15: 40,959,557 (GRCm39) |
M80R |
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TACCTCATTCGACTGAAAGGC -3'
(R):5'- TGTCCTACGACGTAAACATCC -3'
Sequencing Primer
(F):5'- CTCATTCGACTGAAAGGCAACAGG -3'
(R):5'- CAGCAGGTAAGACTTCCCAGG -3'
|
Posted On |
2015-07-21 |