Incidental Mutation 'R9304:Myb'
| ID |
705121 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myb
|
| Ensembl Gene |
ENSMUSG00000019982 |
| Gene Name |
myeloblastosis oncogene |
| Synonyms |
c-myb |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9304 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
21000834-21036883 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 21028516 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 116
(S116P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020158
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020158]
[ENSMUST00000188495]
|
| AlphaFold |
P06876 |
| PDB Structure |
CRYSTAL STRUCTURE OF C-MYB R1 [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF C-MYB R2R3 [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF C-MYB R2 [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF C-MYB R2 V103L MUTANT [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF TERNARY PROTEIN-DNA COMPLEX1 [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF TERNARY PROTEIN-DNA COMPLEX2 [X-RAY DIFFRACTION]
STRUCTURE OF MYB TRANSFORMING PROTEIN, NMR, MINIMIZED AVERAGE STRUCTURE [SOLUTION NMR]
STRUCTURE OF MYB TRANSFORMING PROTEIN, NMR, 20 STRUCTURES [SOLUTION NMR]
MOUSE C-MYB DNA-BINDING DOMAIN REPEAT 1 [SOLUTION NMR]
MOUSE C-MYB DNA-BINDING DOMAIN REPEAT 1 [SOLUTION NMR]
>> 8 additional structures at PDB <<
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020158
AA Change: S116P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000020158
Gene: ENSMUSG00000019982
AA Change: S116P
| 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 |
noncoding transcript
Transcript: ENSMUST00000180680
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186446
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000188495
AA Change: S116P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000139699
Gene: ENSMUSG00000019982
AA Change: S116P
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214539
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216751
|
| Meta Mutation Damage Score |
0.9162 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810062G17Rik |
A |
G |
3: 36,536,072 (GRCm39) |
K113E |
unknown |
Het |
| 4930486L24Rik |
T |
C |
13: 61,001,352 (GRCm39) |
Y125C |
probably damaging |
Het |
| Acte1 |
G |
T |
7: 143,434,902 (GRCm39) |
|
probably null |
Het |
| Adam28 |
A |
T |
14: 68,874,946 (GRCm39) |
Y244N |
probably damaging |
Het |
| Ap3b2 |
T |
C |
7: 81,113,019 (GRCm39) |
D944G |
unknown |
Het |
| Asb2 |
G |
A |
12: 103,302,225 (GRCm39) |
P108S |
probably damaging |
Het |
| Cachd1 |
A |
G |
4: 100,824,179 (GRCm39) |
Y540C |
possibly damaging |
Het |
| Ccdc40 |
A |
G |
11: 119,122,597 (GRCm39) |
Q63R |
probably benign |
Het |
| Cdhr5 |
G |
A |
7: 140,851,474 (GRCm39) |
P610L |
probably benign |
Het |
| Cep350 |
T |
C |
1: 155,829,464 (GRCm39) |
K87E |
probably damaging |
Het |
| Csmd3 |
T |
C |
15: 47,569,805 (GRCm39) |
D1206G |
|
Het |
| Diaph3 |
T |
C |
14: 87,328,448 (GRCm39) |
E98G |
possibly damaging |
Het |
| Dmbt1 |
A |
T |
7: 130,700,855 (GRCm39) |
E1185V |
unknown |
Het |
| Enpp2 |
C |
T |
15: 54,815,969 (GRCm39) |
R65H |
probably damaging |
Het |
| Gapdh |
A |
G |
6: 125,139,819 (GRCm39) |
V195A |
probably benign |
Het |
| Gm14412 |
T |
C |
2: 177,007,547 (GRCm39) |
D116G |
probably benign |
Het |
| Gucy2e |
A |
T |
11: 69,126,560 (GRCm39) |
D273E |
probably benign |
Het |
| Gulp1 |
A |
T |
1: 44,793,593 (GRCm39) |
K85* |
probably null |
Het |
| Htra3 |
A |
G |
5: 35,836,515 (GRCm39) |
V59A |
probably benign |
Het |
| Iars2 |
A |
T |
1: 185,055,400 (GRCm39) |
Y244* |
probably null |
Het |
| Igf2 |
G |
A |
7: 142,208,153 (GRCm39) |
R64C |
probably damaging |
Het |
| Il18r1 |
A |
G |
1: 40,510,893 (GRCm39) |
|
probably benign |
Het |
| Mical2 |
A |
G |
7: 111,980,974 (GRCm39) |
D316G |
probably damaging |
Het |
| Or2ag1b |
A |
T |
7: 106,288,880 (GRCm39) |
D19E |
probably benign |
Het |
| Prob1 |
C |
A |
18: 35,787,708 (GRCm39) |
G182V |
probably damaging |
Het |
| Psmb9 |
A |
G |
17: 34,406,222 (GRCm39) |
|
probably null |
Het |
| Pudp |
T |
A |
18: 50,701,670 (GRCm39) |
D21V |
probably damaging |
Het |
| Rhobtb2 |
G |
A |
14: 70,025,376 (GRCm39) |
H633Y |
probably damaging |
Het |
| Rpf2 |
A |
G |
10: 40,119,850 (GRCm39) |
|
probably null |
Het |
| Sbk2 |
A |
G |
7: 4,960,507 (GRCm39) |
I221T |
probably damaging |
Het |
| Slc10a1 |
G |
A |
12: 81,004,957 (GRCm39) |
T195I |
probably benign |
Het |
| Spata31h1 |
G |
T |
10: 82,131,930 (GRCm39) |
P360Q |
probably benign |
Het |
| Speer1k |
G |
A |
5: 10,998,949 (GRCm39) |
R29Q |
|
Het |
| Stom |
A |
G |
2: 35,211,697 (GRCm39) |
V108A |
possibly damaging |
Het |
| Tmem70 |
C |
T |
1: 16,737,989 (GRCm39) |
T100M |
possibly damaging |
Het |
| Trdn |
G |
T |
10: 33,181,087 (GRCm39) |
|
probably null |
Het |
| Trmt61a |
T |
A |
12: 111,647,437 (GRCm39) |
V178D |
possibly damaging |
Het |
| Trpv4 |
C |
A |
5: 114,782,702 (GRCm39) |
E87* |
probably null |
Het |
| Ttc6 |
T |
C |
12: 57,776,117 (GRCm39) |
F1687S |
probably damaging |
Het |
| Urb2 |
T |
C |
8: 124,757,247 (GRCm39) |
F985L |
probably benign |
Het |
| Vdac3 |
T |
A |
8: 23,070,568 (GRCm39) |
K114N |
probably damaging |
Het |
| Zfp260 |
T |
C |
7: 29,804,279 (GRCm39) |
S60P |
possibly damaging |
Het |
| Zkscan4 |
T |
A |
13: 21,665,570 (GRCm39) |
S182T |
possibly 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 |
|
R0920:Myb
|
UTSW |
10 |
21,002,133 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
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 |
|
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'- TGTTGCCCAAGTCTTACCG -3'
(R):5'- GGTTTCTCACCCCAAGGAAG -3'
Sequencing Primer
(F):5'- AAGTCTTACCGTCCGGGCAG -3'
(R):5'- CAGGAAGTAAAGGGCTGGCTCC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation