Incidental Mutation 'R8376:Myc'
| ID |
646706 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myc
|
| Ensembl Gene |
ENSMUSG00000022346 |
| Gene Name |
myelocytomatosis oncogene |
| Synonyms |
Niard, Myc2, bHLHe39, Nird, c-myc |
| MMRRC Submission |
067744-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8376 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
61857240-61862223 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 61859395 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 24
(N24Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022971
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022971]
[ENSMUST00000159327]
[ENSMUST00000159338]
[ENSMUST00000160009]
[ENSMUST00000161976]
[ENSMUST00000167731]
[ENSMUST00000188482]
[ENSMUST00000191178]
|
| AlphaFold |
P01108 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022971
AA Change: N24Y
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000022971
Gene: ENSMUSG00000022346
AA Change: N24Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myc_N
|
16 |
360 |
7e-118 |
PFAM |
|
HLH
|
375 |
427 |
2.3e-14 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000159327
AA Change: N9Y
PolyPhen 2
Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000124758
Gene: ENSMUSG00000022346
AA Change: N9Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myc_N
|
1 |
345 |
1.4e-141 |
PFAM |
|
HLH
|
360 |
412 |
2.3e-14 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000159338
AA Change: N9Y
PolyPhen 2
Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000160009
AA Change: N9Y
PolyPhen 2
Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000123852
Gene: ENSMUSG00000022346
AA Change: N9Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myc_N
|
1 |
345 |
1.4e-141 |
PFAM |
|
HLH
|
360 |
412 |
2.3e-14 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000161976
AA Change: N9Y
PolyPhen 2
Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000123821
Gene: ENSMUSG00000022346
AA Change: N9Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myc_N
|
1 |
345 |
1.4e-141 |
PFAM |
|
HLH
|
360 |
412 |
2.3e-14 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000167731
AA Change: N23Y
PolyPhen 2
Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000130285
Gene: ENSMUSG00000022346
AA Change: N23Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myc_N
|
15 |
359 |
1.5e-141 |
PFAM |
|
HLH
|
374 |
426 |
2.3e-14 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000188482
AA Change: N24Y
PolyPhen 2
Score 0.755 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000140183
Gene: ENSMUSG00000022346
AA Change: N24Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myc_N
|
16 |
360 |
1.5e-141 |
PFAM |
|
HLH
|
375 |
427 |
2.3e-14 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000191178
AA Change: N23Y
PolyPhen 2
Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000141139
Gene: ENSMUSG00000022346
AA Change: N23Y
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| Validation Efficiency |
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam32 |
A |
C |
8: 25,409,936 (GRCm39) |
I173S |
possibly damaging |
Het |
| Ahctf1 |
T |
C |
1: 179,610,520 (GRCm39) |
D599G |
probably damaging |
Het |
| Alkal2 |
G |
T |
12: 30,934,850 (GRCm39) |
G23V |
probably damaging |
Het |
| Ankrd40 |
G |
T |
11: 94,225,662 (GRCm39) |
G231V |
probably damaging |
Het |
| Apba2 |
T |
A |
7: 64,345,341 (GRCm39) |
V177D |
probably benign |
Het |
| Atp12a |
G |
T |
14: 56,612,083 (GRCm39) |
|
probably null |
Het |
| Birc6 |
C |
T |
17: 74,896,635 (GRCm39) |
T1027M |
probably benign |
Het |
| Bmpr2 |
G |
A |
1: 59,906,515 (GRCm39) |
R536H |
probably damaging |
Het |
| Brms1l |
C |
A |
12: 55,888,414 (GRCm39) |
N67K |
probably benign |
Het |
| Cachd1 |
G |
A |
4: 100,832,073 (GRCm39) |
R745H |
probably damaging |
Het |
| Cacnb4 |
G |
A |
2: 52,354,665 (GRCm39) |
Q238* |
probably null |
Het |
| Cdc42 |
G |
A |
4: 137,056,205 (GRCm39) |
T102I |
probably benign |
Het |
| Cfhr1 |
A |
C |
1: 139,475,549 (GRCm39) |
C307W |
unknown |
Het |
| Ddb1 |
G |
A |
19: 10,596,669 (GRCm39) |
V463M |
probably damaging |
Het |
| Dhx30 |
G |
A |
9: 109,917,707 (GRCm39) |
R365C |
probably benign |
Het |
| Dnah1 |
A |
G |
14: 31,023,303 (GRCm39) |
F1005L |
probably damaging |
Het |
| Elp4 |
A |
G |
2: 105,672,653 (GRCm39) |
V144A |
probably benign |
Het |
| Enpp2 |
T |
A |
15: 54,773,491 (GRCm39) |
N77Y |
probably damaging |
Het |
| Fsip1 |
C |
T |
2: 118,063,519 (GRCm39) |
V317I |
possibly damaging |
Het |
| Gc |
G |
A |
5: 89,586,118 (GRCm39) |
Q341* |
probably null |
Het |
| Gpt2 |
A |
T |
8: 86,219,694 (GRCm39) |
I47F |
probably benign |
Het |
| Ino80 |
A |
T |
2: 119,272,968 (GRCm39) |
S503T |
probably benign |
Het |
| Kcnn4 |
C |
A |
7: 24,077,051 (GRCm39) |
T200K |
possibly damaging |
Het |
| Krtap4-7 |
A |
G |
11: 99,534,753 (GRCm39) |
S37P |
unknown |
Het |
| Lrrc4b |
T |
C |
7: 44,112,018 (GRCm39) |
V630A |
probably benign |
Het |
| Man2a2 |
C |
T |
7: 80,010,671 (GRCm39) |
W773* |
probably null |
Het |
| Mgrn1 |
T |
A |
16: 4,733,630 (GRCm39) |
L192Q |
probably damaging |
Het |
| Mtx1 |
A |
G |
3: 89,121,478 (GRCm39) |
V52A |
probably benign |
Het |
| Nbea |
G |
A |
3: 55,551,076 (GRCm39) |
S2696L |
possibly damaging |
Het |
| Nox4 |
A |
G |
7: 87,023,592 (GRCm39) |
N493D |
probably damaging |
Het |
| Or52w1 |
C |
A |
7: 105,017,847 (GRCm39) |
P105T |
probably benign |
Het |
| Osbpl10 |
G |
A |
9: 115,052,661 (GRCm39) |
G403D |
probably damaging |
Het |
| Pdcd6ip |
A |
T |
9: 113,518,684 (GRCm39) |
L192Q |
probably damaging |
Het |
| Pde3a |
A |
G |
6: 141,426,947 (GRCm39) |
I703V |
possibly damaging |
Het |
| Phf8-ps |
C |
A |
17: 33,286,038 (GRCm39) |
A255S |
probably benign |
Het |
| Pkd1l3 |
CCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGACACACCTGCATCCAATAGCCCACCACAGGGGACATCAGACACACCTGGATTCAGCAGCCCAACACAGGTGACAACAGCCACACTTGTATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACA |
CCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGACACACCTGCATCCAATAGCCCACCACAGGGGACATCAGACACACCTGGATTCAGCAGCCCAACACAGGTGACAACAGCCACACTTGTATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACA |
8: 110,350,420 (GRCm39) |
|
probably benign |
Het |
| Plcb3 |
A |
G |
19: 6,944,071 (GRCm39) |
S36P |
probably damaging |
Het |
| Plk5 |
T |
C |
10: 80,196,179 (GRCm39) |
F279L |
probably damaging |
Het |
| Prl7a1 |
T |
G |
13: 27,821,638 (GRCm39) |
E99D |
probably benign |
Het |
| Rnf4 |
C |
T |
5: 34,508,701 (GRCm39) |
R188W |
probably damaging |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGAGGCGGCGG |
7: 97,229,124 (GRCm39) |
|
probably benign |
Het |
| Scel |
A |
G |
14: 103,809,451 (GRCm39) |
S264G |
probably benign |
Het |
| Sdk1 |
A |
G |
5: 142,144,376 (GRCm39) |
Q1712R |
possibly damaging |
Het |
| Slc15a1 |
A |
G |
14: 121,718,115 (GRCm39) |
Y255H |
probably benign |
Het |
| Syne1 |
C |
T |
10: 4,993,615 (GRCm39) |
G525D |
probably benign |
Het |
| Taldo1 |
T |
C |
7: 140,981,788 (GRCm39) |
V214A |
probably damaging |
Het |
| Tbc1d12 |
A |
G |
19: 38,889,853 (GRCm39) |
T428A |
probably damaging |
Het |
| Tlr6 |
T |
C |
5: 65,112,455 (GRCm39) |
K151E |
probably benign |
Het |
| Ubr2 |
T |
A |
17: 47,253,721 (GRCm39) |
D1468V |
probably benign |
Het |
| Ubtf |
A |
C |
11: 102,199,737 (GRCm39) |
Y463D |
probably damaging |
Het |
| Uroc1 |
A |
T |
6: 90,314,697 (GRCm39) |
M106L |
probably damaging |
Het |
| Vmn1r55 |
T |
A |
7: 5,149,869 (GRCm39) |
I185L |
probably benign |
Het |
| Vmn2r93 |
T |
A |
17: 18,525,230 (GRCm39) |
V296D |
probably damaging |
Het |
| Zfp65 |
A |
C |
13: 67,857,037 (GRCm39) |
Y81D |
probably damaging |
Het |
| Zw10 |
A |
T |
9: 48,988,783 (GRCm39) |
Y683F |
possibly damaging |
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 |
|
R6774:Myc
|
UTSW |
15 |
61,860,128 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
|
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'- AAAAGAGTGCATGCCTCCCC -3'
(R):5'- AGCGACCGCAACATAGGATG -3'
Sequencing Primer
(F):5'- CCACACACACACACACACAC -3'
(R):5'- CCGCAACATAGGATGGAGAGC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation