Incidental Mutation 'R7244:Mybl2'
| ID |
563400 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mybl2
|
| Ensembl Gene |
ENSMUSG00000017861 |
| Gene Name |
myeloblastosis oncogene-like 2 |
| Synonyms |
Bmyb, B-Myb |
| MMRRC Submission |
045308-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7244 (G1)
|
| Quality Score |
137.008 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
162896607-162926608 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 162924605 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 658
(P658S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018005
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018005]
[ENSMUST00000094653]
[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: P658S
PolyPhen 2
Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000018005
Gene: ENSMUSG00000017861
AA Change: P658S
| 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 |
probably benign
Transcript: ENSMUST00000094653
|
| SMART Domains |
Protein: ENSMUSP00000092237
Gene: ENSMUSG00000070708
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-U11-48K
|
6 |
30 |
2.6e-14 |
PFAM |
|
Pfam:zf-U11-48K
|
40 |
63 |
1.2e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142729
AA Change: P259S
PolyPhen 2
Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000114710
Gene: ENSMUSG00000017861
AA Change: P259S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cmyb_C
|
16 |
71 |
1.9e-23 |
PFAM |
|
Pfam:Cmyb_C
|
99 |
215 |
4e-36 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
96% (45/47) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
A |
G |
1: 25,170,350 (GRCm39) |
F983L |
probably damaging |
Het |
| Cc2d1b |
T |
A |
4: 108,486,799 (GRCm39) |
M632K |
probably benign |
Het |
| Cdyl2 |
G |
A |
8: 117,301,999 (GRCm39) |
R461* |
probably null |
Het |
| Cfap57 |
G |
A |
4: 118,411,997 (GRCm39) |
Q1216* |
probably null |
Het |
| Chd1l |
A |
T |
3: 97,505,066 (GRCm39) |
V167E |
probably damaging |
Het |
| Col6a1 |
C |
A |
10: 76,553,242 (GRCm39) |
G391* |
probably null |
Het |
| Ctsc |
C |
A |
7: 87,951,430 (GRCm39) |
Q226K |
probably benign |
Het |
| Cyp2c54 |
A |
G |
19: 40,035,953 (GRCm39) |
V319A |
probably damaging |
Het |
| Dnah7b |
T |
C |
1: 46,316,303 (GRCm39) |
S3139P |
probably damaging |
Het |
| Edrf1 |
T |
C |
7: 133,256,079 (GRCm39) |
S643P |
probably benign |
Het |
| Fam186a |
A |
T |
15: 99,844,273 (GRCm39) |
V657D |
unknown |
Het |
| Fkbp11 |
A |
G |
15: 98,626,073 (GRCm39) |
|
probably benign |
Het |
| Fsip2 |
G |
A |
2: 82,823,607 (GRCm39) |
A6447T |
possibly damaging |
Het |
| H2-T9 |
C |
A |
17: 36,438,496 (GRCm39) |
|
probably null |
Het |
| Hydin |
A |
G |
8: 111,276,307 (GRCm39) |
D3017G |
probably damaging |
Het |
| Ifi205 |
G |
A |
1: 173,845,210 (GRCm39) |
Q191* |
probably null |
Het |
| Mbd4 |
C |
T |
6: 115,821,564 (GRCm39) |
D484N |
probably benign |
Het |
| Med24 |
C |
T |
11: 98,605,223 (GRCm39) |
|
probably null |
Het |
| Mis18bp1 |
T |
C |
12: 65,208,404 (GRCm39) |
N103S |
probably damaging |
Het |
| Mmd2 |
T |
C |
5: 142,550,587 (GRCm39) |
H217R |
probably damaging |
Het |
| Mn1 |
C |
T |
5: 111,566,699 (GRCm39) |
T223M |
possibly damaging |
Het |
| Ms4a4a |
A |
G |
19: 11,358,794 (GRCm39) |
Y84C |
probably damaging |
Het |
| Mup5 |
A |
T |
4: 61,749,818 (GRCm39) |
|
probably null |
Het |
| Mycbp2 |
C |
A |
14: 103,446,345 (GRCm39) |
V1828L |
probably damaging |
Het |
| Myh15 |
T |
C |
16: 49,017,149 (GRCm39) |
Y1887H |
probably damaging |
Het |
| Nadk2 |
A |
G |
15: 9,083,271 (GRCm39) |
|
probably null |
Het |
| Nsd3 |
A |
G |
8: 26,156,055 (GRCm39) |
N541D |
probably damaging |
Het |
| Or52e8b |
A |
G |
7: 104,674,148 (GRCm39) |
V13A |
probably benign |
Het |
| Or52i2 |
G |
T |
7: 102,319,046 (GRCm39) |
|
probably benign |
Het |
| Oxa1l |
A |
T |
14: 54,598,312 (GRCm39) |
M1L |
probably benign |
Het |
| Pcdha11 |
A |
T |
18: 37,144,421 (GRCm39) |
R171* |
probably null |
Het |
| Pkd1l1 |
A |
T |
11: 8,821,771 (GRCm39) |
V1641E |
|
Het |
| Pramel28 |
A |
T |
4: 143,692,455 (GRCm39) |
M182K |
probably benign |
Het |
| Prom1 |
T |
A |
5: 44,178,242 (GRCm39) |
I497L |
probably benign |
Het |
| Rasgef1b |
T |
C |
5: 99,706,753 (GRCm39) |
K41E |
possibly damaging |
Het |
| Rasgrf1 |
T |
C |
9: 89,876,810 (GRCm39) |
F725S |
probably damaging |
Het |
| Ryr2 |
T |
A |
13: 11,612,032 (GRCm39) |
S3962C |
probably damaging |
Het |
| Sema5b |
A |
T |
16: 35,480,915 (GRCm39) |
T829S |
probably benign |
Het |
| Tdp2 |
A |
G |
13: 25,025,284 (GRCm39) |
D351G |
probably benign |
Het |
| Tet3 |
A |
T |
6: 83,347,603 (GRCm39) |
D1130E |
probably damaging |
Het |
| Tg |
T |
C |
15: 66,612,563 (GRCm39) |
C1993R |
probably damaging |
Het |
| Tll1 |
T |
C |
8: 64,478,222 (GRCm39) |
I844V |
probably benign |
Het |
| Ttll13 |
A |
C |
7: 79,903,911 (GRCm39) |
K280Q |
probably damaging |
Het |
| Vmn2r109 |
A |
G |
17: 20,760,945 (GRCm39) |
V804A |
possibly damaging |
Het |
| Vps13c |
T |
C |
9: 67,797,086 (GRCm39) |
V491A |
probably benign |
Het |
| Xpo5 |
G |
T |
17: 46,525,551 (GRCm39) |
G233C |
probably damaging |
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 |
|
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 |
|
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'- CTCCTTGCAAAGATCGTGTGG -3'
(R):5'- GACAGTTAAGTCCAGACCTCAG -3'
Sequencing Primer
(F):5'- TGGCAAAGTGGTGACTTAACTC -3'
(R):5'- CTCAGGAAGGAAATGAGGCTG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation