Incidental Mutation 'IGL02012:Mycn'
| ID |
183398 |
| 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 # |
IGL02012
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
12986094-12991837 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 12987104 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 431
(L431P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114225
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043396]
[ENSMUST00000130990]
|
| AlphaFold |
P03966 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043396
AA Change: L431P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000045993
Gene: ENSMUSG00000037169
AA Change: L431P
| 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 damaging
Transcript: ENSMUST00000130990
AA Change: L431P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114225
Gene: ENSMUSG00000037169
AA Change: L431P
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
G |
6: 121,651,820 (GRCm39) |
N1296S |
probably damaging |
Het |
| Adprh |
A |
T |
16: 38,266,214 (GRCm39) |
D309E |
possibly damaging |
Het |
| Armc1 |
A |
T |
3: 19,211,701 (GRCm39) |
C40S |
possibly damaging |
Het |
| Cops8 |
T |
C |
1: 90,539,956 (GRCm39) |
V204A |
probably damaging |
Het |
| Cstdc5 |
T |
G |
16: 36,187,802 (GRCm39) |
D21A |
possibly damaging |
Het |
| Dchs1 |
T |
G |
7: 105,413,504 (GRCm39) |
T1104P |
probably damaging |
Het |
| Ddi2 |
A |
T |
4: 141,435,529 (GRCm39) |
|
probably null |
Het |
| Ehbp1 |
G |
A |
11: 22,051,218 (GRCm39) |
P420S |
probably damaging |
Het |
| Eif1ad |
T |
G |
19: 5,418,687 (GRCm39) |
V80G |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,480,577 (GRCm39) |
Y3004H |
possibly damaging |
Het |
| Fbxo11 |
C |
T |
17: 88,320,079 (GRCm39) |
R211Q |
probably benign |
Het |
| Foxf2 |
A |
G |
13: 31,810,499 (GRCm39) |
N146S |
probably damaging |
Het |
| Fsd2 |
A |
T |
7: 81,199,662 (GRCm39) |
N334K |
probably benign |
Het |
| Gm45234 |
C |
A |
6: 124,723,011 (GRCm39) |
|
probably benign |
Het |
| Itpr3 |
T |
A |
17: 27,323,069 (GRCm39) |
F1157I |
probably benign |
Het |
| Jph1 |
C |
A |
1: 17,167,638 (GRCm39) |
W64L |
probably benign |
Het |
| Lmo7 |
T |
C |
14: 102,126,152 (GRCm39) |
|
probably benign |
Het |
| Man2a1 |
T |
C |
17: 64,973,894 (GRCm39) |
I390T |
probably damaging |
Het |
| Marveld3 |
C |
T |
8: 110,674,764 (GRCm39) |
V351M |
probably damaging |
Het |
| Minar1 |
T |
C |
9: 89,483,491 (GRCm39) |
I635M |
probably benign |
Het |
| Naip5 |
T |
C |
13: 100,359,847 (GRCm39) |
N463S |
probably benign |
Het |
| Npnt |
A |
G |
3: 132,614,158 (GRCm39) |
C182R |
probably damaging |
Het |
| Obscn |
A |
G |
11: 58,967,333 (GRCm39) |
V3068A |
probably benign |
Het |
| Pggt1b |
A |
T |
18: 46,396,022 (GRCm39) |
S88T |
probably benign |
Het |
| Prx |
A |
G |
7: 27,217,326 (GRCm39) |
E748G |
probably damaging |
Het |
| Scrn3 |
T |
C |
2: 73,148,773 (GRCm39) |
|
probably null |
Het |
| Trmt10b |
G |
A |
4: 45,315,045 (GRCm39) |
R292H |
probably benign |
Het |
| Tuft1 |
A |
G |
3: 94,529,462 (GRCm39) |
|
probably benign |
Het |
| Wfdc8 |
T |
C |
2: 164,445,070 (GRCm39) |
|
probably benign |
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 |
|
IGL02808:Mycn
|
APN |
12 |
12,989,893 (GRCm39) |
missense |
probably benign |
|
|
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 |
2014-05-07 |
Incidental Mutation