Incidental Mutation 'IGL01512:Ndn'
| ID |
89262 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ndn
|
| Ensembl Gene |
ENSMUSG00000033585 |
| Gene Name |
necdin, MAGE family member |
| Synonyms |
Peg6 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.744)
|
| Stock # |
IGL01512
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
61998025-61999676 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 61998481 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 109
(L109R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045369
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038775]
|
| AlphaFold |
P25233 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038775
AA Change: L109R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000045369
Gene: ENSMUSG00000033585
AA Change: L109R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
85 |
106 |
N/A |
INTRINSIC |
|
MAGE
|
109 |
279 |
5.95e-56 |
SMART |
|
low complexity region
|
299 |
317 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207232
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This intronless gene is located in the Prader-Willi syndrome deletion region. It is an imprinted gene and is expressed exclusively from the paternal allele. Studies in mouse suggest that the protein encoded by this gene may suppress growth in postmitotic neurons. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial neonatal lethality, cyanosis and respiratory distress. Mice heterozygous for a knock-out allele exhibit abnormal behavior, abnormal nervous system morphology and physiology and, when inherited maternally, postnatal lethality with cyanosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
T |
C |
11: 110,208,649 (GRCm39) |
I223V |
probably benign |
Het |
| Abra |
T |
C |
15: 41,729,413 (GRCm39) |
E329G |
probably damaging |
Het |
| Ahsa2 |
C |
T |
11: 23,441,582 (GRCm39) |
A163T |
probably benign |
Het |
| Atxn1 |
T |
C |
13: 45,720,077 (GRCm39) |
Q606R |
probably damaging |
Het |
| Fads1 |
T |
A |
19: 10,160,506 (GRCm39) |
S31T |
probably benign |
Het |
| Il6st |
T |
A |
13: 112,640,900 (GRCm39) |
M831K |
probably benign |
Het |
| Lztr1 |
G |
A |
16: 17,340,255 (GRCm39) |
|
probably null |
Het |
| Megf6 |
G |
A |
4: 154,347,040 (GRCm39) |
R755Q |
possibly damaging |
Het |
| Or2b4 |
T |
G |
17: 38,116,503 (GRCm39) |
S156A |
probably damaging |
Het |
| Or4c52 |
A |
G |
2: 89,845,636 (GRCm39) |
I121V |
probably damaging |
Het |
| Psmd6 |
T |
C |
14: 14,114,237 (GRCm38) |
Y294C |
probably damaging |
Het |
| Serpina6 |
A |
G |
12: 103,620,318 (GRCm39) |
Y144H |
probably damaging |
Het |
| Top3b |
T |
C |
16: 16,709,286 (GRCm39) |
I68T |
possibly damaging |
Het |
| Trav6d-4 |
G |
A |
14: 52,990,870 (GRCm39) |
V6I |
probably benign |
Het |
| Utp3 |
T |
C |
5: 88,703,803 (GRCm39) |
V444A |
probably damaging |
Het |
| Wdr72 |
T |
C |
9: 74,056,041 (GRCm39) |
V299A |
probably benign |
Het |
| Zfp791 |
C |
T |
8: 85,840,172 (GRCm39) |
V32M |
probably damaging |
Het |
| Zfp9 |
A |
G |
6: 118,444,292 (GRCm39) |
F17S |
probably damaging |
Het |
|
| Other mutations in Ndn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02332:Ndn
|
APN |
7 |
61,998,573 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02705:Ndn
|
APN |
7 |
61,998,856 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02824:Ndn
|
APN |
7 |
61,998,582 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1525:Ndn
|
UTSW |
7 |
61,998,256 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1595:Ndn
|
UTSW |
7 |
61,998,256 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1598:Ndn
|
UTSW |
7 |
61,998,256 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1636:Ndn
|
UTSW |
7 |
61,998,256 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1638:Ndn
|
UTSW |
7 |
61,998,256 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1653:Ndn
|
UTSW |
7 |
61,998,256 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1791:Ndn
|
UTSW |
7 |
61,998,256 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4674:Ndn
|
UTSW |
7 |
61,998,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7202:Ndn
|
UTSW |
7 |
61,998,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9455:Ndn
|
UTSW |
7 |
61,998,337 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9467:Ndn
|
UTSW |
7 |
61,998,903 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R9605:Ndn
|
UTSW |
7 |
61,998,337 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9607:Ndn
|
UTSW |
7 |
61,998,337 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9608:Ndn
|
UTSW |
7 |
61,998,337 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
Z1088:Ndn
|
UTSW |
7 |
61,998,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Ndn
|
UTSW |
7 |
61,998,292 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2013-12-03 |
Incidental Mutation