Incidental Mutation 'R0696:Mybl1'
ID |
63437 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mybl1
|
Ensembl Gene |
ENSMUSG00000025912 |
Gene Name |
myeloblastosis oncogene-like 1 |
Synonyms |
G1-419-6, A-myb, repro9 |
MMRRC Submission |
038880-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.561)
|
Stock # |
R0696 (G1)
|
Quality Score |
143 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
9737640-9770434 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 9743373 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 560
(N560D)
|
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: N560D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000086034 Gene: ENSMUSG00000025912 AA Change: N560D
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: N560D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000111128 Gene: ENSMUSG00000025912 AA Change: N560D
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: 97.7%
- 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: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Amigo2 |
T |
C |
15: 97,143,855 (GRCm39) |
K189R |
probably benign |
Het |
Arpp21 |
A |
T |
9: 112,012,657 (GRCm39) |
|
probably null |
Het |
Atp6v1a |
G |
T |
16: 43,907,834 (GRCm39) |
Q603K |
probably benign |
Het |
Bcorl1 |
C |
A |
X: 47,494,895 (GRCm39) |
P1722H |
probably damaging |
Het |
Cd209a |
C |
A |
8: 3,798,384 (GRCm39) |
A55S |
possibly damaging |
Het |
Cdh6 |
A |
G |
15: 13,051,418 (GRCm39) |
V405A |
probably benign |
Het |
Cdsn |
A |
T |
17: 35,866,893 (GRCm39) |
Q474L |
possibly damaging |
Het |
Col4a4 |
T |
A |
1: 82,470,270 (GRCm39) |
D753V |
unknown |
Het |
Csmd3 |
T |
C |
15: 47,710,569 (GRCm39) |
T1569A |
probably benign |
Het |
Cul7 |
C |
T |
17: 46,970,534 (GRCm39) |
P1084L |
probably damaging |
Het |
Cyp7b1 |
T |
C |
3: 18,126,749 (GRCm39) |
T466A |
probably benign |
Het |
Enpp2 |
C |
T |
15: 54,761,092 (GRCm39) |
W253* |
probably null |
Het |
Igf2bp2 |
A |
T |
16: 21,898,875 (GRCm39) |
S245T |
probably benign |
Het |
Lmnb1 |
A |
G |
18: 56,873,793 (GRCm39) |
T400A |
probably damaging |
Het |
Mecom |
T |
C |
3: 30,010,538 (GRCm39) |
T724A |
probably benign |
Het |
Nav1 |
A |
G |
1: 135,460,352 (GRCm39) |
S324P |
probably damaging |
Het |
Prrc2c |
C |
T |
1: 162,536,421 (GRCm39) |
|
probably null |
Het |
Rgma |
T |
C |
7: 73,059,160 (GRCm39) |
V88A |
probably damaging |
Het |
Slc7a1 |
A |
T |
5: 148,277,366 (GRCm39) |
V383E |
probably benign |
Het |
St8sia5 |
A |
G |
18: 77,342,160 (GRCm39) |
N254S |
probably damaging |
Het |
Stx19 |
A |
G |
16: 62,642,406 (GRCm39) |
K74R |
probably benign |
Het |
Tmem81 |
C |
G |
1: 132,435,567 (GRCm39) |
I124M |
probably damaging |
Het |
Uap1 |
G |
A |
1: 169,976,843 (GRCm39) |
P452L |
probably benign |
Het |
Zfp101 |
C |
T |
17: 33,600,401 (GRCm39) |
A452T |
possibly damaging |
Het |
Zfp820 |
A |
G |
17: 22,039,041 (GRCm39) |
S96P |
possibly 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 |
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 |
R4333:Mybl1
|
UTSW |
1 |
9,742,523 (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'- CCTGACCCATTAGTTTCCTATGCAACA -3'
(R):5'- ACGAGTATAACCGACTCTAGACAACCAT -3'
Sequencing Primer
(F):5'- GCCAAGTAAAGGGTTATCTAAAGAC -3'
(R):5'- ccagggctacacagagaaac -3'
|
Posted On |
2013-07-30 |