Incidental Mutation 'R0920:Myb'
| ID |
82824 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myb
|
| Ensembl Gene |
ENSMUSG00000019982 |
| Gene Name |
myeloblastosis oncogene |
| Synonyms |
c-myb |
| MMRRC Submission |
039070-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0920 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
21000834-21036883 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 21002133 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 736
(T736K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139699
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020158]
[ENSMUST00000188495]
|
| AlphaFold |
P06876 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020158
AA Change: T617K
PolyPhen 2
Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000020158
Gene: ENSMUSG00000019982
AA Change: T617K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
27 |
N/A |
INTRINSIC |
|
SANT
|
39 |
88 |
9.52e-20 |
SMART |
|
SANT
|
91 |
140 |
2.04e-19 |
SMART |
|
SANT
|
143 |
191 |
1.75e-18 |
SMART |
|
low complexity region
|
227 |
239 |
N/A |
INTRINSIC |
|
Pfam:LMSTEN
|
267 |
313 |
4e-29 |
PFAM |
|
Pfam:Cmyb_C
|
399 |
559 |
1.5e-64 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000188495
AA Change: T736K
PolyPhen 2
Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000139699
Gene: ENSMUSG00000019982
AA Change: T736K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
27 |
N/A |
INTRINSIC |
|
SANT
|
39 |
88 |
9.52e-20 |
SMART |
|
SANT
|
91 |
140 |
2.04e-19 |
SMART |
|
SANT
|
143 |
191 |
1.75e-18 |
SMART |
|
low complexity region
|
227 |
239 |
N/A |
INTRINSIC |
|
Pfam:LMSTEN
|
266 |
313 |
3.6e-32 |
PFAM |
|
low complexity region
|
409 |
421 |
N/A |
INTRINSIC |
|
Pfam:Cmyb_C
|
516 |
682 |
8.5e-66 |
PFAM |
|
| Meta Mutation Damage Score |
0.1153 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
100% (37/37) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with three HTH DNA-binding domains that functions as a transcription regulator. This protein plays an essential role in the regulation of hematopoiesis. This gene may be aberrently expressed or rearranged or undergo translocation in leukemias and lymphomas, and is considered to be an oncogene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for deficient alleles of this gene display severe hematopoietic abnormalities. Red and white blood cells and platelets are all affected. [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 |
|---|
| Aadacl4fm2 |
T |
C |
4: 144,287,696 (GRCm39) |
|
probably benign |
Het |
| Adamts16 |
A |
G |
13: 70,911,680 (GRCm39) |
|
probably benign |
Het |
| Adgra3 |
A |
G |
5: 50,118,503 (GRCm39) |
V1015A |
probably benign |
Het |
| Armc5 |
G |
T |
7: 127,839,491 (GRCm39) |
A270S |
probably damaging |
Het |
| Cacng1 |
A |
C |
11: 107,596,682 (GRCm39) |
|
probably benign |
Het |
| Ccdc33 |
T |
C |
9: 57,940,955 (GRCm39) |
D429G |
probably damaging |
Het |
| Ccdc88b |
G |
T |
19: 6,824,017 (GRCm39) |
A1412E |
probably benign |
Het |
| Cfap298 |
C |
T |
16: 90,724,267 (GRCm39) |
E125K |
probably damaging |
Het |
| Clock |
A |
T |
5: 76,378,167 (GRCm39) |
S578T |
possibly damaging |
Het |
| Crp |
T |
C |
1: 172,526,089 (GRCm39) |
F58S |
probably damaging |
Het |
| Dlg5 |
T |
A |
14: 24,226,465 (GRCm39) |
Q125L |
probably damaging |
Het |
| Eif3i |
T |
C |
4: 129,489,050 (GRCm39) |
|
probably benign |
Het |
| Gucy1a2 |
A |
C |
9: 3,759,472 (GRCm39) |
D426A |
probably damaging |
Het |
| Hpcal1 |
C |
T |
12: 17,841,098 (GRCm39) |
|
probably benign |
Het |
| Inf2 |
T |
A |
12: 112,576,721 (GRCm39) |
|
probably benign |
Het |
| Kdm7a |
A |
G |
6: 39,128,256 (GRCm39) |
L525P |
probably damaging |
Het |
| Kirrel3 |
A |
T |
9: 34,939,648 (GRCm39) |
I152F |
probably damaging |
Het |
| Knl1 |
T |
A |
2: 118,900,309 (GRCm39) |
I670K |
probably benign |
Het |
| Krt76 |
T |
C |
15: 101,800,874 (GRCm39) |
T141A |
possibly damaging |
Het |
| Ldb3 |
T |
C |
14: 34,289,460 (GRCm39) |
T249A |
probably benign |
Het |
| Magi3 |
A |
T |
3: 103,941,507 (GRCm39) |
|
probably null |
Het |
| Mfn1 |
A |
G |
3: 32,588,385 (GRCm39) |
|
probably null |
Het |
| Myo5b |
A |
C |
18: 74,758,712 (GRCm39) |
K231T |
probably benign |
Het |
| Myt1l |
T |
A |
12: 29,936,138 (GRCm39) |
C909S |
unknown |
Het |
| Npas4 |
C |
A |
19: 5,036,344 (GRCm39) |
E607* |
probably null |
Het |
| Nphp3 |
A |
G |
9: 103,909,106 (GRCm39) |
N772S |
probably benign |
Het |
| Nup88 |
G |
T |
11: 70,847,146 (GRCm39) |
P288Q |
possibly damaging |
Het |
| Or2l13 |
A |
T |
16: 19,305,680 (GRCm39) |
I31F |
probably benign |
Het |
| Pknox1 |
C |
A |
17: 31,815,865 (GRCm39) |
Q240K |
probably damaging |
Het |
| Plce1 |
A |
C |
19: 38,724,965 (GRCm39) |
T1439P |
probably damaging |
Het |
| Ppp1r42 |
T |
A |
1: 10,069,750 (GRCm39) |
N104I |
probably damaging |
Het |
| Prkar2a |
T |
A |
9: 108,596,496 (GRCm39) |
|
probably benign |
Het |
| Stox2 |
C |
T |
8: 47,646,053 (GRCm39) |
R469Q |
probably damaging |
Het |
| Syna |
A |
G |
5: 134,587,956 (GRCm39) |
V331A |
probably benign |
Het |
| Vmn1r58 |
A |
T |
7: 5,413,788 (GRCm39) |
N147K |
probably benign |
Het |
| Zdhhc6 |
A |
T |
19: 55,300,133 (GRCm39) |
L148H |
probably damaging |
Het |
|
| Other mutations in Myb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00654:Myb
|
APN |
10 |
21,017,725 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00707:Myb
|
APN |
10 |
21,024,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00796:Myb
|
APN |
10 |
21,017,698 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01012:Myb
|
APN |
10 |
21,022,159 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01082:Myb
|
APN |
10 |
21,028,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01365:Myb
|
APN |
10 |
21,028,401 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL01906:Myb
|
APN |
10 |
21,028,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02560:Myb
|
APN |
10 |
21,028,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Huang_river
|
UTSW |
10 |
21,028,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4495001:Myb
|
UTSW |
10 |
21,028,521 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0385:Myb
|
UTSW |
10 |
21,030,611 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R0442:Myb
|
UTSW |
10 |
21,002,095 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0759:Myb
|
UTSW |
10 |
21,020,927 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0882:Myb
|
UTSW |
10 |
21,032,259 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1401:Myb
|
UTSW |
10 |
21,028,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1651:Myb
|
UTSW |
10 |
21,002,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1752:Myb
|
UTSW |
10 |
21,032,336 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1879:Myb
|
UTSW |
10 |
21,017,876 (GRCm39) |
missense |
probably benign |
0.24 |
|
R1971:Myb
|
UTSW |
10 |
21,016,555 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4355:Myb
|
UTSW |
10 |
21,028,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4611:Myb
|
UTSW |
10 |
21,021,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4650:Myb
|
UTSW |
10 |
21,028,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4888:Myb
|
UTSW |
10 |
21,002,137 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5121:Myb
|
UTSW |
10 |
21,002,137 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5922:Myb
|
UTSW |
10 |
21,028,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5955:Myb
|
UTSW |
10 |
21,028,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6116:Myb
|
UTSW |
10 |
21,030,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6150:Myb
|
UTSW |
10 |
21,017,668 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6207:Myb
|
UTSW |
10 |
21,021,221 (GRCm39) |
missense |
probably benign |
|
|
R6656:Myb
|
UTSW |
10 |
21,028,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6801:Myb
|
UTSW |
10 |
21,020,865 (GRCm39) |
splice site |
probably null |
|
|
R6824:Myb
|
UTSW |
10 |
21,021,019 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6884:Myb
|
UTSW |
10 |
21,028,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6977:Myb
|
UTSW |
10 |
21,028,551 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7562:Myb
|
UTSW |
10 |
21,017,653 (GRCm39) |
splice site |
probably null |
|
|
R7651:Myb
|
UTSW |
10 |
21,032,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7747:Myb
|
UTSW |
10 |
21,032,324 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8346:Myb
|
UTSW |
10 |
21,002,136 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8683:Myb
|
UTSW |
10 |
21,026,405 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8829:Myb
|
UTSW |
10 |
21,021,130 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9227:Myb
|
UTSW |
10 |
21,030,612 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9228:Myb
|
UTSW |
10 |
21,030,612 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9240:Myb
|
UTSW |
10 |
21,016,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9304:Myb
|
UTSW |
10 |
21,028,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9408:Myb
|
UTSW |
10 |
21,026,275 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9517:Myb
|
UTSW |
10 |
21,030,612 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9576:Myb
|
UTSW |
10 |
21,030,612 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9577:Myb
|
UTSW |
10 |
21,030,612 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9610:Myb
|
UTSW |
10 |
21,030,627 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGCACTTGGTGCTGCTCTCAAC -3'
(R):5'- TCTCCAACCTTGGAAAACTGCCTG -3'
Sequencing Primer
(F):5'- TGTTGTACCACAACAAAATCAGG -3'
(R):5'- CATCTTACGAAAGTTCTGAGAGAC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation