Incidental Mutation 'R6774:Myc'
ID |
532309 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Myc
|
Ensembl Gene |
ENSMUSG00000022346 |
Gene Name |
myelocytomatosis oncogene |
Synonyms |
Niard, Myc2, bHLHe39, Nird, c-myc |
MMRRC Submission |
044890-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6774 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
61857240-61862223 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
G to A
at 61860128 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141139
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022971]
[ENSMUST00000159327]
[ENSMUST00000159338]
[ENSMUST00000160009]
[ENSMUST00000161976]
[ENSMUST00000167731]
[ENSMUST00000188482]
[ENSMUST00000191178]
|
AlphaFold |
P01108 |
Predicted Effect |
probably null
Transcript: ENSMUST00000022971
|
SMART Domains |
Protein: ENSMUSP00000022971 Gene: ENSMUSG00000022346
Domain | Start | End | E-Value | Type |
Pfam:Myc_N
|
16 |
360 |
7e-118 |
PFAM |
HLH
|
375 |
427 |
2.3e-14 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000159327
|
SMART Domains |
Protein: ENSMUSP00000124758 Gene: ENSMUSG00000022346
Domain | Start | End | E-Value | Type |
Pfam:Myc_N
|
1 |
345 |
1.4e-141 |
PFAM |
HLH
|
360 |
412 |
2.3e-14 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159338
|
Predicted Effect |
probably null
Transcript: ENSMUST00000160009
|
SMART Domains |
Protein: ENSMUSP00000123852 Gene: ENSMUSG00000022346
Domain | Start | End | E-Value | Type |
Pfam:Myc_N
|
1 |
345 |
1.4e-141 |
PFAM |
HLH
|
360 |
412 |
2.3e-14 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000161976
|
SMART Domains |
Protein: ENSMUSP00000123821 Gene: ENSMUSG00000022346
Domain | Start | End | E-Value | Type |
Pfam:Myc_N
|
1 |
345 |
1.4e-141 |
PFAM |
HLH
|
360 |
412 |
2.3e-14 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000167731
|
SMART Domains |
Protein: ENSMUSP00000130285 Gene: ENSMUSG00000022346
Domain | Start | End | E-Value | Type |
Pfam:Myc_N
|
15 |
359 |
1.5e-141 |
PFAM |
HLH
|
374 |
426 |
2.3e-14 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000188482
|
SMART Domains |
Protein: ENSMUSP00000140183 Gene: ENSMUSG00000022346
Domain | Start | End | E-Value | Type |
Pfam:Myc_N
|
16 |
360 |
1.5e-141 |
PFAM |
HLH
|
375 |
427 |
2.3e-14 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000191178
|
SMART Domains |
Protein: ENSMUSP00000141139 Gene: ENSMUSG00000022346
Domain | Start | End | E-Value | Type |
Pfam:Myc_N
|
15 |
359 |
1.9e-141 |
PFAM |
HLH
|
374 |
426 |
2.3e-14 |
SMART |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
Validation Efficiency |
98% (53/54) |
MGI Phenotype |
FUNCTION: The protein encoded by this gene is a multifunctional, nuclear phosphoprotein that plays a role in cell cycle progression, apoptosis and cellular transformation. It functions as a transcription factor that regulates transcription of specific target genes. Mutations, overexpression, rearrangement and translocation of this gene have been associated with a variety of hematopoietic tumors, leukemias and lymphomas, including Burkitt lymphoma, in human. There is evidence to show that alternative translation initiations from an upstream, in-frame non-AUG (CUG) and a downstream AUG start site result in the production of two isoforms with distinct N-termini, in human and mouse. Under conditions of stress, such as high cell densities and methionine deprivation, there is a specific and dramatic increase in the synthesis of the non-AUG initiated protein, suggesting its importance in times of adversity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010] PHENOTYPE: Mutations affect growth and development of heart, pericardium, neural tube, vasculogenesis and erythropoeisis. Homozygous null mutants die by embryonic day 10.5. Heterozygotes have reduced body size and multiorgan hypoplasia; females have small litters. [provided by MGI curators]
|
Allele List at MGI |
All alleles(23) : Targeted(19) Gene trapped(4)
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017B05Rik |
A |
T |
9: 57,163,908 (GRCm39) |
I822N |
probably damaging |
Het |
9930111J21Rik1 |
A |
G |
11: 48,838,143 (GRCm39) |
S815P |
possibly damaging |
Het |
A430033K04Rik |
A |
G |
5: 138,644,712 (GRCm39) |
Y199C |
probably benign |
Het |
Adam34l |
T |
A |
8: 44,078,220 (GRCm39) |
H668L |
probably benign |
Het |
Afap1l1 |
A |
T |
18: 61,888,732 (GRCm39) |
V113E |
probably benign |
Het |
Ahnak2 |
C |
T |
12: 112,740,172 (GRCm39) |
C494Y |
possibly damaging |
Het |
Atr |
A |
T |
9: 95,809,266 (GRCm39) |
E1981D |
probably benign |
Het |
Bmp7 |
A |
G |
2: 172,714,751 (GRCm39) |
Y353H |
probably damaging |
Het |
Capn11 |
C |
T |
17: 45,968,256 (GRCm39) |
|
probably benign |
Het |
Ccdc103 |
T |
C |
11: 102,773,519 (GRCm39) |
F47S |
probably damaging |
Het |
Cmas |
A |
G |
6: 142,710,147 (GRCm39) |
Y130C |
possibly damaging |
Het |
Cntn5 |
T |
C |
9: 10,144,222 (GRCm39) |
Y149C |
probably damaging |
Het |
Col12a1 |
A |
C |
9: 79,613,619 (GRCm39) |
S75R |
possibly damaging |
Het |
Crat |
G |
A |
2: 30,303,195 (GRCm39) |
H31Y |
probably damaging |
Het |
Dnah7a |
A |
G |
1: 53,737,810 (GRCm39) |
V41A |
probably benign |
Het |
F5 |
C |
T |
1: 164,014,447 (GRCm39) |
R573C |
probably damaging |
Het |
Gcc2 |
A |
G |
10: 58,117,261 (GRCm39) |
N1170S |
possibly damaging |
Het |
Gm29666 |
A |
T |
15: 84,798,260 (GRCm39) |
C100* |
probably null |
Het |
Gm3573 |
A |
T |
14: 42,009,472 (GRCm39) |
Y158N |
possibly damaging |
Het |
Gtf3c1 |
G |
T |
7: 125,240,793 (GRCm39) |
A1968E |
possibly damaging |
Het |
Heg1 |
C |
A |
16: 33,558,638 (GRCm39) |
T815K |
probably damaging |
Het |
Herc1 |
TCCC |
TCC |
9: 66,408,470 (GRCm39) |
|
probably null |
Het |
Kif17 |
A |
G |
4: 138,002,306 (GRCm39) |
Y170C |
probably damaging |
Het |
Kti12 |
G |
A |
4: 108,705,652 (GRCm39) |
G189R |
probably benign |
Het |
Lrp4 |
G |
A |
2: 91,341,849 (GRCm39) |
A1821T |
probably benign |
Het |
Mamdc4 |
T |
C |
2: 25,456,948 (GRCm39) |
I610V |
probably benign |
Het |
Mmp1b |
T |
C |
9: 7,387,914 (GRCm39) |
K27E |
probably benign |
Het |
Mob4 |
A |
G |
1: 55,187,588 (GRCm39) |
|
probably null |
Het |
Myo5c |
A |
T |
9: 75,196,468 (GRCm39) |
I1305F |
probably benign |
Het |
Nprl3 |
A |
G |
11: 32,187,381 (GRCm39) |
V292A |
probably damaging |
Het |
Ntng2 |
T |
C |
2: 29,087,102 (GRCm39) |
T373A |
probably damaging |
Het |
Or1f19 |
T |
A |
16: 3,410,380 (GRCm39) |
V40D |
probably damaging |
Het |
Or4a67 |
C |
T |
2: 88,598,228 (GRCm39) |
V144I |
probably benign |
Het |
Or5p50 |
T |
A |
7: 107,422,395 (GRCm39) |
T94S |
probably benign |
Het |
Or7e171-ps1 |
A |
T |
9: 19,853,070 (GRCm39) |
L222H |
unknown |
Het |
Pard3 |
T |
C |
8: 128,137,228 (GRCm39) |
L859P |
probably damaging |
Het |
Ppcs |
T |
C |
4: 119,276,285 (GRCm39) |
D100G |
probably damaging |
Het |
Prkdc |
G |
T |
16: 15,543,325 (GRCm39) |
|
probably null |
Het |
Pwwp2b |
T |
C |
7: 138,835,903 (GRCm39) |
V448A |
probably benign |
Het |
Rapgef4 |
A |
G |
2: 72,056,119 (GRCm39) |
K624R |
probably benign |
Het |
Spata31e5 |
A |
T |
1: 28,815,974 (GRCm39) |
I686N |
probably benign |
Het |
Synj2 |
C |
T |
17: 6,088,290 (GRCm39) |
S1447L |
possibly damaging |
Het |
Tfap2a |
T |
A |
13: 40,882,230 (GRCm39) |
N25I |
probably damaging |
Het |
Tnxb |
C |
A |
17: 34,928,606 (GRCm39) |
Y2673* |
probably null |
Het |
Trim27 |
T |
A |
13: 21,376,624 (GRCm39) |
H457Q |
probably damaging |
Het |
Trim72 |
T |
G |
7: 127,609,558 (GRCm39) |
F453L |
probably damaging |
Het |
Ubr5 |
A |
T |
15: 38,015,379 (GRCm39) |
M877K |
probably damaging |
Het |
Usp10 |
T |
C |
8: 120,678,711 (GRCm39) |
L564P |
probably benign |
Het |
Usp54 |
A |
G |
14: 20,627,296 (GRCm39) |
V454A |
probably damaging |
Het |
Uspl1 |
T |
A |
5: 149,150,904 (GRCm39) |
D701E |
probably benign |
Het |
Vmn2r103 |
A |
G |
17: 19,993,773 (GRCm39) |
H50R |
probably benign |
Het |
Zfp35 |
G |
A |
18: 24,136,015 (GRCm39) |
V120I |
possibly damaging |
Het |
Zfp712 |
T |
C |
13: 67,189,568 (GRCm39) |
T320A |
probably benign |
Het |
|
Other mutations in Myc |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00155:Myc
|
APN |
15 |
61,861,669 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02372:Myc
|
APN |
15 |
61,859,707 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02400:Myc
|
APN |
15 |
61,861,760 (GRCm39) |
unclassified |
probably benign |
|
IGL02677:Myc
|
APN |
15 |
61,861,513 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02834:Myc
|
APN |
15 |
61,859,515 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03330:Myc
|
APN |
15 |
61,859,998 (GRCm39) |
missense |
probably benign |
|
PIT1430001:Myc
|
UTSW |
15 |
61,859,542 (GRCm39) |
missense |
probably damaging |
1.00 |
R1245:Myc
|
UTSW |
15 |
61,859,746 (GRCm39) |
missense |
probably damaging |
0.96 |
R2105:Myc
|
UTSW |
15 |
61,859,951 (GRCm39) |
missense |
probably damaging |
1.00 |
R4373:Myc
|
UTSW |
15 |
61,861,513 (GRCm39) |
missense |
probably damaging |
0.99 |
R6813:Myc
|
UTSW |
15 |
61,860,001 (GRCm39) |
missense |
probably damaging |
1.00 |
R7371:Myc
|
UTSW |
15 |
61,860,031 (GRCm39) |
missense |
probably damaging |
0.97 |
R8376:Myc
|
UTSW |
15 |
61,859,395 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9729:Myc
|
UTSW |
15 |
61,859,935 (GRCm39) |
missense |
probably damaging |
0.99 |
RF020:Myc
|
UTSW |
15 |
61,857,672 (GRCm39) |
unclassified |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGTGCATTGACCCCTCAGTG -3'
(R):5'- CCCAGGGTAATTAAAATGCTTAGG -3'
Sequencing Primer
(F):5'- ATTGACCCCTCAGTGGTCTTTC -3'
(R):5'- CCCAAATGAAATTCCTGAGGGGTG -3'
|
Posted On |
2018-08-29 |