Incidental Mutation 'IGL03112:Mybl2'
| ID |
419230 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mybl2
|
| Ensembl Gene |
ENSMUSG00000017861 |
| Gene Name |
myeloblastosis oncogene-like 2 |
| Synonyms |
Bmyb, B-Myb |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03112
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
162896607-162926608 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 162904456 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 89
(E89G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018005
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018005]
|
| AlphaFold |
P48972 |
| PDB Structure |
Solution Structure of RSGI RUH-050, a myb DNA-binding domain in mouse cDNA [SOLUTION NMR]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000018005
AA Change: E89G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000018005
Gene: ENSMUSG00000017861
AA Change: E89G
| Domain | Start | End | E-Value | Type |
|---|
|
SANT
|
30 |
79 |
1.38e-16 |
SMART |
|
SANT
|
82 |
131 |
5.77e-19 |
SMART |
|
SANT
|
134 |
182 |
2.12e-17 |
SMART |
|
low complexity region
|
232 |
252 |
N/A |
INTRINSIC |
|
low complexity region
|
339 |
366 |
N/A |
INTRINSIC |
|
Pfam:Cmyb_C
|
454 |
610 |
6.4e-62 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137620
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene, a member of the MYB family of transcription factor genes, is a nuclear protein involved in cell cycle progression. The encoded protein is phosphorylated by cyclin A/cyclin-dependent kinase 2 during the S-phase of the cell cycle and possesses both activator and repressor activities. It has been shown to activate the cell division cycle 2, cyclin D1, and insulin-like growth factor-binding protein 5 genes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for disruptions in this gene die as embryos shortly after implantation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam26b |
T |
C |
8: 43,974,549 (GRCm39) |
N151S |
probably benign |
Het |
| Adgre1 |
G |
A |
17: 57,755,029 (GRCm39) |
|
probably null |
Het |
| Apol11a |
T |
A |
15: 77,401,509 (GRCm39) |
L332Q |
probably damaging |
Het |
| B430306N03Rik |
C |
T |
17: 48,623,834 (GRCm39) |
S45L |
probably benign |
Het |
| Cend1 |
G |
A |
7: 141,007,640 (GRCm39) |
T60M |
probably benign |
Het |
| Col6a3 |
C |
A |
1: 90,739,242 (GRCm39) |
E329* |
probably null |
Het |
| Col9a3 |
A |
G |
2: 180,249,435 (GRCm39) |
R266G |
possibly damaging |
Het |
| Defb48 |
C |
T |
14: 63,221,854 (GRCm39) |
|
probably benign |
Het |
| Eps8l2 |
T |
G |
7: 140,941,649 (GRCm39) |
L640R |
probably damaging |
Het |
| Exoc2 |
T |
A |
13: 31,090,570 (GRCm39) |
|
probably benign |
Het |
| Fam149a |
C |
T |
8: 45,801,580 (GRCm39) |
V514M |
possibly damaging |
Het |
| Fbxo25 |
A |
T |
8: 13,971,034 (GRCm39) |
D74V |
probably benign |
Het |
| Gm11733 |
A |
G |
11: 117,377,966 (GRCm39) |
*126W |
probably null |
Het |
| Grm8 |
C |
T |
6: 27,363,262 (GRCm39) |
C751Y |
probably damaging |
Het |
| Kctd16 |
A |
T |
18: 40,391,853 (GRCm39) |
D147V |
probably benign |
Het |
| Lclat1 |
A |
T |
17: 73,546,742 (GRCm39) |
T220S |
probably damaging |
Het |
| Lgi1 |
T |
A |
19: 38,272,478 (GRCm39) |
H116Q |
possibly damaging |
Het |
| Lrrc40 |
G |
A |
3: 157,747,302 (GRCm39) |
|
probably benign |
Het |
| Lsm4 |
T |
A |
8: 71,130,656 (GRCm39) |
I60N |
probably damaging |
Het |
| Morn1 |
T |
A |
4: 155,177,601 (GRCm39) |
Y178N |
probably damaging |
Het |
| Myo18b |
T |
C |
5: 113,021,856 (GRCm39) |
E512G |
probably benign |
Het |
| Myrfl |
A |
T |
10: 116,639,311 (GRCm39) |
S583T |
probably benign |
Het |
| Nek6 |
A |
G |
2: 38,450,914 (GRCm39) |
I106V |
probably damaging |
Het |
| Oas1a |
A |
T |
5: 121,036,412 (GRCm39) |
D338E |
possibly damaging |
Het |
| Or10ag52 |
T |
A |
2: 87,043,944 (GRCm39) |
I236N |
probably damaging |
Het |
| Or4a76 |
G |
A |
2: 89,460,678 (GRCm39) |
T188I |
probably benign |
Het |
| Or6c1 |
A |
G |
10: 129,517,792 (GRCm39) |
V272A |
probably benign |
Het |
| Pitrm1 |
C |
A |
13: 6,615,044 (GRCm39) |
Q508K |
probably benign |
Het |
| S100b |
A |
G |
10: 76,095,808 (GRCm39) |
D62G |
probably damaging |
Het |
| Sesn3 |
A |
G |
9: 14,221,557 (GRCm39) |
H119R |
probably damaging |
Het |
| Sez6l |
T |
A |
5: 112,621,333 (GRCm39) |
E247V |
probably damaging |
Het |
| Shoc1 |
G |
T |
4: 59,049,355 (GRCm39) |
Q1069K |
probably benign |
Het |
| Shq1 |
C |
A |
6: 100,550,574 (GRCm39) |
E455* |
probably null |
Het |
| Slc9b1 |
T |
A |
3: 135,103,433 (GRCm39) |
M521K |
probably damaging |
Het |
| Supt16 |
A |
G |
14: 52,413,855 (GRCm39) |
F543L |
probably damaging |
Het |
| Tcf25 |
T |
C |
8: 124,109,258 (GRCm39) |
|
probably benign |
Het |
| Usp48 |
C |
A |
4: 137,335,375 (GRCm39) |
Q183K |
probably damaging |
Het |
| Vmn1r178 |
G |
A |
7: 23,593,086 (GRCm39) |
G45S |
probably damaging |
Het |
| Vmn1r237 |
T |
A |
17: 21,534,368 (GRCm39) |
Y30* |
probably null |
Het |
|
| Other mutations in Mybl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02331:Mybl2
|
APN |
2 |
162,916,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0129:Mybl2
|
UTSW |
2 |
162,901,411 (GRCm39) |
splice site |
probably benign |
|
|
R0393:Mybl2
|
UTSW |
2 |
162,903,528 (GRCm39) |
splice site |
probably benign |
|
|
R0488:Mybl2
|
UTSW |
2 |
162,914,534 (GRCm39) |
unclassified |
probably benign |
|
|
R0839:Mybl2
|
UTSW |
2 |
162,917,688 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1268:Mybl2
|
UTSW |
2 |
162,916,636 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1462:Mybl2
|
UTSW |
2 |
162,914,628 (GRCm39) |
missense |
probably benign |
|
|
R1462:Mybl2
|
UTSW |
2 |
162,914,628 (GRCm39) |
missense |
probably benign |
|
|
R1667:Mybl2
|
UTSW |
2 |
162,917,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1829:Mybl2
|
UTSW |
2 |
162,901,503 (GRCm39) |
missense |
probably benign |
0.41 |
|
R4793:Mybl2
|
UTSW |
2 |
162,916,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4953:Mybl2
|
UTSW |
2 |
162,922,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5738:Mybl2
|
UTSW |
2 |
162,910,203 (GRCm39) |
nonsense |
probably null |
|
|
R6524:Mybl2
|
UTSW |
2 |
162,916,450 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R6957:Mybl2
|
UTSW |
2 |
162,914,728 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7223:Mybl2
|
UTSW |
2 |
162,914,625 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7244:Mybl2
|
UTSW |
2 |
162,924,605 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7376:Mybl2
|
UTSW |
2 |
162,924,513 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7451:Mybl2
|
UTSW |
2 |
162,914,626 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7623:Mybl2
|
UTSW |
2 |
162,914,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8463:Mybl2
|
UTSW |
2 |
162,916,638 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8865:Mybl2
|
UTSW |
2 |
162,922,653 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8967:Mybl2
|
UTSW |
2 |
162,914,806 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9293:Mybl2
|
UTSW |
2 |
162,910,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9494:Mybl2
|
UTSW |
2 |
162,917,843 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9614:Mybl2
|
UTSW |
2 |
162,906,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation