Incidental Mutation 'IGL02808:Mycn'
| ID |
360498 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mycn
|
| Ensembl Gene |
ENSMUSG00000037169 |
| Gene Name |
v-myc avian myelocytomatosis viral related oncogene, neuroblastoma derived |
| Synonyms |
bHLHe37, Nmyc, Nmyc1, N-myc, Nmyc-1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02808
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
12986094-12991837 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 12989893 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 168
(S168G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114225
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043396]
[ENSMUST00000130990]
|
| AlphaFold |
P03966 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043396
AA Change: S168G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000045993
Gene: ENSMUSG00000037169
AA Change: S168G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myc_N
|
8 |
370 |
1.4e-120 |
PFAM |
|
HLH
|
385 |
437 |
1.09e-15 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130990
AA Change: S168G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000114225
Gene: ENSMUSG00000037169
AA Change: S168G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myc_N
|
9 |
370 |
1.1e-148 |
PFAM |
|
HLH
|
385 |
437 |
1.09e-15 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151534
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the MYC family and encodes a protein with a basic helix-loop-helix (bHLH) domain. This protein is located in the nucleus and must dimerize with another bHLH protein in order to bind DNA. Amplification of this gene is associated with a variety of tumors, most notably neuroblastomas. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]
PHENOTYPE: Homozygotes for targeted null mutations exhibit impaired development of the mesonephric tubules, neuroepithelium, sensory ganglia, heart, lung, stomach, and liver. Mutants die around embryonic day 11.5. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adk |
C |
T |
14: 21,153,901 (GRCm39) |
P35S |
probably benign |
Het |
| Ankmy1 |
T |
A |
1: 92,814,388 (GRCm39) |
D373V |
probably damaging |
Het |
| Aox3 |
A |
G |
1: 58,181,859 (GRCm39) |
Y282C |
probably damaging |
Het |
| Bcas3 |
A |
G |
11: 85,386,677 (GRCm39) |
T371A |
probably benign |
Het |
| Bckdhb |
T |
C |
9: 83,870,898 (GRCm39) |
V136A |
probably benign |
Het |
| Ccdc18 |
G |
T |
5: 108,283,835 (GRCm39) |
|
probably benign |
Het |
| Cdc25a |
T |
A |
9: 109,712,667 (GRCm39) |
|
probably null |
Het |
| Ckap5 |
T |
A |
2: 91,426,859 (GRCm39) |
Y1394N |
probably damaging |
Het |
| Dhx15 |
A |
G |
5: 52,319,041 (GRCm39) |
V458A |
possibly damaging |
Het |
| Dram1 |
T |
C |
10: 88,172,786 (GRCm39) |
Y136C |
probably damaging |
Het |
| Dusp19 |
A |
G |
2: 80,447,815 (GRCm39) |
K30E |
probably benign |
Het |
| Elmo2 |
T |
C |
2: 165,133,627 (GRCm39) |
|
probably benign |
Het |
| Fcho1 |
G |
A |
8: 72,165,185 (GRCm39) |
S424L |
possibly damaging |
Het |
| Ganc |
A |
G |
2: 120,241,992 (GRCm39) |
T57A |
probably benign |
Het |
| Hgs |
T |
A |
11: 120,360,492 (GRCm39) |
Y63* |
probably null |
Het |
| Marchf6 |
A |
T |
15: 31,478,552 (GRCm39) |
N594K |
probably benign |
Het |
| Muc5ac |
C |
A |
7: 141,359,512 (GRCm39) |
T1323N |
possibly damaging |
Het |
| Phf11d |
G |
T |
14: 59,586,739 (GRCm39) |
Q298K |
probably damaging |
Het |
| Pkd1 |
T |
A |
17: 24,812,478 (GRCm39) |
Y3804N |
probably damaging |
Het |
| Pramel16 |
T |
A |
4: 143,677,585 (GRCm39) |
|
probably benign |
Het |
| Prr14l |
A |
G |
5: 32,985,526 (GRCm39) |
I1323T |
possibly damaging |
Het |
| Pyroxd2 |
T |
C |
19: 42,719,781 (GRCm39) |
E475G |
probably benign |
Het |
| Ros1 |
T |
C |
10: 52,001,985 (GRCm39) |
K1046E |
probably damaging |
Het |
| Sema7a |
C |
T |
9: 57,867,631 (GRCm39) |
A461V |
probably benign |
Het |
| Slc30a2 |
T |
A |
4: 134,071,360 (GRCm39) |
I31N |
possibly damaging |
Het |
| Srebf1 |
C |
A |
11: 60,092,539 (GRCm39) |
|
probably null |
Het |
| Srms |
A |
T |
2: 180,849,501 (GRCm39) |
I301N |
probably damaging |
Het |
| Tmem130 |
A |
G |
5: 144,680,433 (GRCm39) |
Y324H |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,601,602 (GRCm39) |
T18654I |
probably benign |
Het |
| Vmn2r6 |
T |
A |
3: 64,463,917 (GRCm39) |
T306S |
probably damaging |
Het |
|
| Other mutations in Mycn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01302:Mycn
|
APN |
12 |
12,987,587 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02012:Mycn
|
APN |
12 |
12,987,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4581001:Mycn
|
UTSW |
12 |
12,990,244 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0282:Mycn
|
UTSW |
12 |
12,987,314 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3910:Mycn
|
UTSW |
12 |
12,987,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4943:Mycn
|
UTSW |
12 |
12,987,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5667:Mycn
|
UTSW |
12 |
12,990,045 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5827:Mycn
|
UTSW |
12 |
12,989,794 (GRCm39) |
nonsense |
probably null |
|
|
R6594:Mycn
|
UTSW |
12 |
12,990,051 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7513:Mycn
|
UTSW |
12 |
12,989,743 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7560:Mycn
|
UTSW |
12 |
12,990,292 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9225:Mycn
|
UTSW |
12 |
12,987,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9526:Mycn
|
UTSW |
12 |
12,989,778 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2015-12-18 |
Incidental Mutation