Incidental Mutation 'R1268:Mybl2'
| ID |
151204 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mybl2
|
| Ensembl Gene |
ENSMUSG00000017861 |
| Gene Name |
myeloblastosis oncogene-like 2 |
| Synonyms |
Bmyb, B-Myb |
| MMRRC Submission |
039335-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1268 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
162896607-162926608 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 162916636 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 429
(N429S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018005
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018005]
[ENSMUST00000142729]
|
| AlphaFold |
P48972 |
| PDB Structure |
Solution Structure of RSGI RUH-050, a myb DNA-binding domain in mouse cDNA [SOLUTION NMR]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018005
AA Change: N429S
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000018005
Gene: ENSMUSG00000017861
AA Change: N429S
| 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: ENSMUST00000133322
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138414
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142729
|
| SMART Domains |
Protein: ENSMUSP00000114710
Gene: ENSMUSG00000017861
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cmyb_C
|
16 |
71 |
1.9e-23 |
PFAM |
|
Pfam:Cmyb_C
|
99 |
215 |
4e-36 |
PFAM |
|
| Meta Mutation Damage Score |
0.0588 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.6%
|
| Validation Efficiency |
100% (41/41) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afdn |
T |
C |
17: 14,108,248 (GRCm39) |
V1257A |
probably damaging |
Het |
| Aplnr |
A |
G |
2: 84,967,775 (GRCm39) |
T267A |
possibly damaging |
Het |
| Arap2 |
A |
G |
5: 62,887,964 (GRCm39) |
S461P |
probably benign |
Het |
| Brpf3 |
A |
G |
17: 29,055,530 (GRCm39) |
T1160A |
probably damaging |
Het |
| Col5a1 |
A |
T |
2: 27,892,501 (GRCm39) |
T1005S |
unknown |
Het |
| Crebrf |
CTTTT |
CTTT |
17: 26,958,570 (GRCm39) |
|
probably null |
Het |
| Fmo6 |
A |
T |
1: 162,748,086 (GRCm39) |
I326N |
probably damaging |
Het |
| Foxp4 |
G |
C |
17: 48,191,278 (GRCm39) |
|
probably benign |
Het |
| Gnat1 |
A |
G |
9: 107,553,076 (GRCm39) |
|
probably benign |
Het |
| Hs6st1 |
T |
A |
1: 36,108,007 (GRCm39) |
V90D |
probably damaging |
Het |
| Igsf11 |
A |
G |
16: 38,845,216 (GRCm39) |
T257A |
probably benign |
Het |
| Ints2 |
C |
T |
11: 86,123,911 (GRCm39) |
G626R |
probably damaging |
Het |
| Mab21l3 |
C |
T |
3: 101,742,363 (GRCm39) |
E66K |
possibly damaging |
Het |
| Mroh2a |
C |
T |
1: 88,158,402 (GRCm39) |
R150* |
probably null |
Het |
| Mycbp2 |
G |
A |
14: 103,446,218 (GRCm39) |
T1837I |
probably damaging |
Het |
| Myh7b |
C |
A |
2: 155,455,966 (GRCm39) |
S117* |
probably null |
Het |
| Nek1 |
C |
A |
8: 61,475,298 (GRCm39) |
A202E |
probably damaging |
Het |
| Notum |
C |
T |
11: 120,549,493 (GRCm39) |
W159* |
probably null |
Het |
| Ntn1 |
TCCTCGGC |
TC |
11: 68,103,959 (GRCm39) |
|
probably benign |
Het |
| Nup58 |
A |
T |
14: 60,482,119 (GRCm39) |
|
probably benign |
Het |
| Or2w2 |
C |
T |
13: 21,758,498 (GRCm39) |
V43M |
probably benign |
Het |
| Or4c58 |
A |
G |
2: 89,674,498 (GRCm39) |
I273T |
probably damaging |
Het |
| Or4f57 |
G |
T |
2: 111,791,222 (GRCm39) |
N65K |
possibly damaging |
Het |
| Or5b99 |
T |
C |
19: 12,976,625 (GRCm39) |
Y92H |
possibly damaging |
Het |
| Or5p69 |
A |
T |
7: 107,967,002 (GRCm39) |
I102F |
probably benign |
Het |
| Or7g12 |
T |
C |
9: 18,899,652 (GRCm39) |
F123L |
probably damaging |
Het |
| Plk4 |
T |
A |
3: 40,765,804 (GRCm39) |
V659D |
probably damaging |
Het |
| Rbm27 |
T |
C |
18: 42,466,367 (GRCm39) |
S866P |
probably damaging |
Het |
| Rnaseh2b |
A |
T |
14: 62,609,904 (GRCm39) |
K303N |
possibly damaging |
Het |
| Samd9l |
C |
T |
6: 3,376,113 (GRCm39) |
V383I |
possibly damaging |
Het |
| Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
| Slc35f2 |
T |
A |
9: 53,705,197 (GRCm39) |
Y62* |
probably null |
Het |
| Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
Het |
| Ulk1 |
A |
G |
5: 110,938,143 (GRCm39) |
S610P |
probably damaging |
Het |
| Ulk4 |
C |
A |
9: 121,086,140 (GRCm39) |
|
probably benign |
Het |
| Vdr |
T |
C |
15: 97,755,356 (GRCm39) |
N389S |
probably benign |
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 |
|
IGL03112:Mybl2
|
APN |
2 |
162,904,456 (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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCACACTATTTCAGACCTGAGCC -3'
(R):5'- GCAGCCTAGAGTGTTAGCTCCAAG -3'
Sequencing Primer
(F):5'- CTGAGCCGGAGCAGTCG -3'
(R):5'- agctctgggtttgctcac -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation