Incidental Mutation 'R6150:Myb'
| ID |
489200 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myb
|
| Ensembl Gene |
ENSMUSG00000019982 |
| Gene Name |
myeloblastosis oncogene |
| Synonyms |
c-myb |
| MMRRC Submission |
044297-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6150 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
21000834-21036883 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 21017668 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 641
(I641T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139699
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020158]
[ENSMUST00000188495]
|
| AlphaFold |
P06876 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020158
AA Change: I522T
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000020158
Gene: ENSMUSG00000019982
AA Change: I522T
| 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: I641T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139699
Gene: ENSMUSG00000019982
AA Change: I641T
| 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: ENSMUST00000216985
|
| Meta Mutation Damage Score |
0.2682 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
| Validation Efficiency |
97% (56/58) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh3a1 |
A |
G |
11: 61,104,334 (GRCm39) |
T74A |
probably benign |
Het |
| Arhgef1 |
T |
C |
7: 24,618,782 (GRCm39) |
|
probably null |
Het |
| Art1 |
C |
G |
7: 101,756,294 (GRCm39) |
R162G |
probably benign |
Het |
| Boll |
T |
A |
1: 55,309,812 (GRCm39) |
I280F |
possibly damaging |
Het |
| Cep44 |
T |
C |
8: 56,992,840 (GRCm39) |
E258G |
probably benign |
Het |
| Cutc |
T |
A |
19: 43,748,328 (GRCm39) |
V75E |
probably damaging |
Het |
| Dtx1 |
T |
C |
5: 120,819,428 (GRCm39) |
K590R |
probably damaging |
Het |
| Eps8 |
A |
T |
6: 137,494,172 (GRCm39) |
D295E |
probably damaging |
Het |
| Erc2 |
C |
A |
14: 27,863,248 (GRCm39) |
S491Y |
probably damaging |
Het |
| F2rl3 |
G |
T |
8: 73,489,366 (GRCm39) |
A198S |
probably benign |
Het |
| Fam83b |
G |
A |
9: 76,399,639 (GRCm39) |
T488M |
probably damaging |
Het |
| Fitm2 |
A |
G |
2: 163,311,994 (GRCm39) |
L73P |
probably damaging |
Het |
| Fxyd1 |
T |
C |
7: 30,754,228 (GRCm39) |
|
probably null |
Het |
| Gm17186 |
T |
C |
14: 51,918,183 (GRCm39) |
|
noncoding transcript |
Het |
| Hivep3 |
C |
A |
4: 119,591,274 (GRCm39) |
S94* |
probably null |
Het |
| Ifna1 |
T |
A |
4: 88,768,349 (GRCm39) |
M9K |
probably null |
Het |
| Igsf11 |
G |
A |
16: 38,843,711 (GRCm39) |
E275K |
probably damaging |
Het |
| Itga1 |
G |
A |
13: 115,104,769 (GRCm39) |
L1086F |
probably benign |
Het |
| Itgav |
T |
C |
2: 83,606,780 (GRCm39) |
S374P |
probably benign |
Het |
| Jmy |
A |
T |
13: 93,577,641 (GRCm39) |
N842K |
probably benign |
Het |
| Kcnh6 |
G |
A |
11: 105,911,557 (GRCm39) |
V595M |
possibly damaging |
Het |
| Kif13b |
T |
A |
14: 64,989,088 (GRCm39) |
I823N |
probably damaging |
Het |
| Kif26b |
T |
C |
1: 178,743,111 (GRCm39) |
L1069P |
probably damaging |
Het |
| Kl |
T |
A |
5: 150,912,318 (GRCm39) |
M689K |
possibly damaging |
Het |
| Kmt2b |
G |
T |
7: 30,287,902 (GRCm39) |
|
probably benign |
Het |
| Map10 |
G |
A |
8: 126,398,328 (GRCm39) |
D574N |
probably damaging |
Het |
| Mau2 |
A |
T |
8: 70,472,487 (GRCm39) |
H565Q |
probably benign |
Het |
| Naaladl2 |
C |
A |
3: 24,606,214 (GRCm39) |
G15V |
probably null |
Het |
| Or10k2 |
G |
A |
8: 84,267,782 (GRCm39) |
C3Y |
probably benign |
Het |
| Or3a4 |
A |
C |
11: 73,945,145 (GRCm39) |
S147A |
probably benign |
Het |
| Or6c210 |
A |
G |
10: 129,495,803 (GRCm39) |
I43V |
probably benign |
Het |
| Or7d11 |
A |
T |
9: 19,966,170 (GRCm39) |
N78K |
probably benign |
Het |
| Otog |
A |
G |
7: 45,913,483 (GRCm39) |
E772G |
possibly damaging |
Het |
| Pla2g4d |
T |
C |
2: 120,100,045 (GRCm39) |
D674G |
probably damaging |
Het |
| Pmpcb |
A |
G |
5: 21,942,137 (GRCm39) |
|
probably null |
Het |
| Pomk |
A |
G |
8: 26,473,284 (GRCm39) |
V223A |
possibly damaging |
Het |
| Prpf40a |
T |
C |
2: 53,047,927 (GRCm39) |
M197V |
probably benign |
Het |
| Serpina1e |
A |
G |
12: 103,917,066 (GRCm39) |
V201A |
probably benign |
Het |
| Six5 |
C |
T |
7: 18,831,446 (GRCm39) |
P646S |
probably benign |
Het |
| Slc17a9 |
A |
G |
2: 180,379,421 (GRCm39) |
I298V |
probably benign |
Het |
| Slc37a2 |
G |
T |
9: 37,149,643 (GRCm39) |
T188K |
probably damaging |
Het |
| Slc6a11 |
T |
A |
6: 114,222,579 (GRCm39) |
F525I |
probably benign |
Het |
| Slit2 |
A |
T |
5: 48,461,516 (GRCm39) |
D1504V |
probably damaging |
Het |
| Srcap |
T |
A |
7: 127,134,000 (GRCm39) |
M907K |
probably damaging |
Het |
| Sspo |
T |
C |
6: 48,463,313 (GRCm39) |
L3746P |
probably benign |
Het |
| Supv3l1 |
A |
T |
10: 62,271,501 (GRCm39) |
N376K |
possibly damaging |
Het |
| Tekt3 |
A |
T |
11: 62,985,483 (GRCm39) |
T430S |
possibly damaging |
Het |
| Tex2 |
A |
T |
11: 106,457,906 (GRCm39) |
V508D |
probably benign |
Het |
| Tmem184c |
G |
T |
8: 78,323,069 (GRCm39) |
Q598K |
probably benign |
Het |
| Ube2v1 |
G |
A |
2: 167,459,874 (GRCm39) |
R42* |
probably null |
Het |
| Usp45 |
A |
C |
4: 21,810,797 (GRCm39) |
D331A |
probably damaging |
Het |
| Vangl1 |
T |
C |
3: 102,091,835 (GRCm39) |
T84A |
probably damaging |
Het |
| Vgll3 |
T |
A |
16: 65,625,064 (GRCm39) |
|
probably null |
Het |
| Vmn1r61 |
T |
A |
7: 5,613,678 (GRCm39) |
H212L |
probably benign |
Het |
| Vmn2r114 |
A |
G |
17: 23,510,269 (GRCm39) |
V737A |
probably benign |
Het |
| Vmn2r35 |
A |
T |
7: 7,789,555 (GRCm39) |
D727E |
probably damaging |
Het |
| Vps18 |
T |
A |
2: 119,128,073 (GRCm39) |
Y965* |
probably null |
Het |
| Zfp521 |
A |
T |
18: 13,977,135 (GRCm39) |
C1093S |
probably damaging |
Het |
| Zfp971 |
A |
C |
2: 177,675,247 (GRCm39) |
H282P |
probably benign |
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 |
|
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'- AAGAGTATAAGCCCGCTGCC -3'
(R):5'- GGGCTTAGGAGTGTAGACAAGTTTC -3'
Sequencing Primer
(F):5'- GCATCTTTTCTGCCTAAAGAAGTTG -3'
(R):5'- AGACAAGTTTCCTCTGATCTGG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation