Incidental Mutation 'R4333:Mybl1'
ID |
323653 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mybl1
|
Ensembl Gene |
ENSMUSG00000025912 |
Gene Name |
myeloblastosis oncogene-like 1 |
Synonyms |
G1-419-6, A-myb, repro9 |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.561)
|
Stock # |
R4333 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
9737640-9770434 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 9742523 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 621
(K621E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000111128
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088658]
[ENSMUST00000115468]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000088658
AA Change: K621E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000086034 Gene: ENSMUSG00000025912 AA Change: K621E
Domain | Start | End | E-Value | Type |
SANT
|
34 |
83 |
1.08e-18 |
SMART |
SANT
|
86 |
135 |
1.26e-19 |
SMART |
SANT
|
138 |
186 |
1.75e-18 |
SMART |
Pfam:LMSTEN
|
240 |
285 |
1.2e-29 |
PFAM |
Pfam:Cmyb_C
|
485 |
648 |
6.9e-82 |
PFAM |
low complexity region
|
734 |
749 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000115468
AA Change: K621E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000111128 Gene: ENSMUSG00000025912 AA Change: K621E
Domain | Start | End | E-Value | Type |
SANT
|
34 |
83 |
1.08e-18 |
SMART |
SANT
|
86 |
135 |
1.26e-19 |
SMART |
SANT
|
138 |
186 |
1.75e-18 |
SMART |
Pfam:LMSTEN
|
239 |
285 |
1.9e-30 |
PFAM |
Pfam:Cmyb_C
|
485 |
651 |
4.1e-74 |
PFAM |
low complexity region
|
674 |
689 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160022
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.9%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygous null mice of both sexes show growth retardation after birth and an impairment of serum antibody response. Male mutant mice are sterile due to a meiotic defect. While female mutant mice are fertile, breast development is impaired after pregnancy. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 19 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgb |
C |
T |
10: 10,318,246 (GRCm39) |
V193I |
possibly damaging |
Het |
Cadps |
C |
T |
14: 12,467,031 (GRCm38) |
R967H |
probably damaging |
Het |
Cwh43 |
A |
G |
5: 73,598,722 (GRCm39) |
D647G |
probably damaging |
Het |
Dab2ip |
T |
A |
2: 35,551,632 (GRCm39) |
*164R |
probably null |
Het |
Ddx18 |
A |
T |
1: 121,492,331 (GRCm39) |
D125E |
probably benign |
Het |
Fbxw7 |
T |
C |
3: 84,879,802 (GRCm39) |
C375R |
probably damaging |
Het |
Iqca1l |
A |
G |
5: 24,749,368 (GRCm39) |
L710P |
probably damaging |
Het |
Khnyn |
A |
G |
14: 56,131,499 (GRCm39) |
D536G |
probably damaging |
Het |
Lamp3 |
T |
C |
16: 19,492,186 (GRCm39) |
I353V |
probably benign |
Het |
Med13 |
A |
G |
11: 86,179,009 (GRCm39) |
F1429S |
probably benign |
Het |
Myo19 |
G |
A |
11: 84,799,114 (GRCm39) |
A816T |
probably benign |
Het |
Or10d1c |
A |
G |
9: 38,893,884 (GRCm39) |
I152T |
possibly damaging |
Het |
Or51h7 |
A |
T |
7: 102,591,176 (GRCm39) |
L203I |
possibly damaging |
Het |
Rnf2 |
T |
C |
1: 151,348,827 (GRCm39) |
T98A |
possibly damaging |
Het |
Samm50 |
A |
G |
15: 84,087,031 (GRCm39) |
K280R |
probably benign |
Het |
Satb2 |
T |
C |
1: 56,884,745 (GRCm39) |
N511S |
probably damaging |
Het |
Tbc1d19 |
A |
G |
5: 54,029,619 (GRCm39) |
T327A |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Vmn2r7 |
T |
C |
3: 64,598,199 (GRCm39) |
N786S |
probably damaging |
Het |
|
Other mutations in Mybl1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01352:Mybl1
|
APN |
1 |
9,741,904 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01431:Mybl1
|
APN |
1 |
9,742,872 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01733:Mybl1
|
APN |
1 |
9,755,935 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL01903:Mybl1
|
APN |
1 |
9,741,801 (GRCm39) |
splice site |
probably null |
|
IGL02527:Mybl1
|
APN |
1 |
9,760,373 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02729:Mybl1
|
APN |
1 |
9,742,795 (GRCm39) |
missense |
probably benign |
0.22 |
IGL02810:Mybl1
|
APN |
1 |
9,748,613 (GRCm39) |
missense |
probably benign |
|
IGL02810:Mybl1
|
APN |
1 |
9,743,340 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03369:Mybl1
|
APN |
1 |
9,742,780 (GRCm39) |
missense |
probably damaging |
0.99 |
R0696:Mybl1
|
UTSW |
1 |
9,743,373 (GRCm39) |
missense |
probably damaging |
1.00 |
R1453:Mybl1
|
UTSW |
1 |
9,741,901 (GRCm39) |
missense |
probably benign |
0.27 |
R1476:Mybl1
|
UTSW |
1 |
9,742,886 (GRCm39) |
splice site |
probably null |
|
R1567:Mybl1
|
UTSW |
1 |
9,755,976 (GRCm39) |
missense |
probably damaging |
1.00 |
R3110:Mybl1
|
UTSW |
1 |
9,752,095 (GRCm39) |
missense |
probably damaging |
1.00 |
R3112:Mybl1
|
UTSW |
1 |
9,752,095 (GRCm39) |
missense |
probably damaging |
1.00 |
R3438:Mybl1
|
UTSW |
1 |
9,757,870 (GRCm39) |
missense |
probably damaging |
1.00 |
R3801:Mybl1
|
UTSW |
1 |
9,743,439 (GRCm39) |
missense |
probably damaging |
1.00 |
R4646:Mybl1
|
UTSW |
1 |
9,742,511 (GRCm39) |
missense |
probably damaging |
1.00 |
R4705:Mybl1
|
UTSW |
1 |
9,760,340 (GRCm39) |
missense |
probably damaging |
0.99 |
R5873:Mybl1
|
UTSW |
1 |
9,755,890 (GRCm39) |
missense |
possibly damaging |
0.75 |
R6326:Mybl1
|
UTSW |
1 |
9,748,732 (GRCm39) |
critical splice acceptor site |
probably null |
|
R6444:Mybl1
|
UTSW |
1 |
9,755,917 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6801:Mybl1
|
UTSW |
1 |
9,753,353 (GRCm39) |
missense |
probably benign |
0.42 |
R7168:Mybl1
|
UTSW |
1 |
9,748,513 (GRCm39) |
missense |
probably damaging |
1.00 |
R8322:Mybl1
|
UTSW |
1 |
9,746,506 (GRCm39) |
missense |
probably damaging |
1.00 |
R9369:Mybl1
|
UTSW |
1 |
9,742,829 (GRCm39) |
missense |
probably damaging |
1.00 |
R9459:Mybl1
|
UTSW |
1 |
9,746,484 (GRCm39) |
missense |
possibly damaging |
0.86 |
Z1176:Mybl1
|
UTSW |
1 |
9,755,994 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1177:Mybl1
|
UTSW |
1 |
9,746,265 (GRCm39) |
missense |
probably benign |
0.01 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTCTCTGAACTAGGCAAAATAACC -3'
(R):5'- TGTAATTTTGGCTGCCCTCAAAC -3'
Sequencing Primer
(F):5'- TCTCTTTTAAATTATCTGGCCAAGC -3'
(R):5'- GGCTGCCCTCAAACTTCCAAAC -3'
|
Posted On |
2015-06-24 |