Incidental Mutation 'IGL02560:Myb'
ID 298190
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Myb
Ensembl Gene ENSMUSG00000019982
Gene Name myeloblastosis oncogene
Synonyms c-myb
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02560
Quality Score
Status
Chromosome 10
Chromosomal Location 21000834-21036883 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 21028347 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 172 (L172Q)
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: L172Q

PolyPhen 2 Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000020158
Gene: ENSMUSG00000019982
AA Change: L172Q

DomainStartEndE-ValueType
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: L172Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139699
Gene: ENSMUSG00000019982
AA Change: L172Q

DomainStartEndE-ValueType
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
Coding Region Coverage
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano4 C T 10: 88,814,603 (GRCm39) W660* probably null Het
Atp9b T C 18: 80,805,413 (GRCm39) D715G probably benign Het
Catsper1 T C 19: 5,386,216 (GRCm39) S150P possibly damaging Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cldn19 G A 4: 119,112,921 (GRCm39) W51* probably null Het
Ddx31 T C 2: 28,765,838 (GRCm39) I512T probably damaging Het
Dsc2 G T 18: 20,178,596 (GRCm39) D269E probably damaging Het
Dsg1b T C 18: 20,542,235 (GRCm39) V914A possibly damaging Het
Etl4 A G 2: 20,748,529 (GRCm39) E420G probably damaging Het
Foxa2 A G 2: 147,885,951 (GRCm39) L113P probably benign Het
Gm6034 T G 17: 36,367,356 (GRCm39) probably benign Het
Gtf3c4 A T 2: 28,724,279 (GRCm39) Y343* probably null Het
Hhip A T 8: 80,713,638 (GRCm39) Y563N probably damaging Het
Ighg2c A T 12: 113,251,504 (GRCm39) C208S unknown Het
Lipo2 A G 19: 33,708,348 (GRCm39) L222P possibly damaging Het
Nipal3 A T 4: 135,207,015 (GRCm39) Y60N probably damaging Het
Npas2 A T 1: 39,373,042 (GRCm39) probably benign Het
Or5h26 G T 16: 58,987,891 (GRCm39) S205* probably null Het
Or8k16 T A 2: 85,519,863 (GRCm39) V30D possibly damaging Het
Or8k39 A T 2: 86,563,578 (GRCm39) I126N probably damaging Het
Pdxdc1 T C 16: 13,657,596 (GRCm39) D532G probably benign Het
Pwp2 T C 10: 78,014,899 (GRCm39) S362G probably damaging Het
Senp5 A G 16: 31,808,210 (GRCm39) V348A probably benign Het
Slc25a37 T C 14: 69,482,741 (GRCm39) T187A probably benign Het
Svil A G 18: 5,049,379 (GRCm39) I219V probably benign Het
Tcf4 A G 18: 69,776,093 (GRCm39) probably benign Het
Tex15 T C 8: 34,071,779 (GRCm39) V2442A probably benign Het
Tomm70a T C 16: 56,970,212 (GRCm39) L530S probably benign Het
Ulbp3 A G 10: 3,075,866 (GRCm39) noncoding transcript Het
Wscd2 A T 5: 113,699,045 (GRCm39) D200V probably benign Het
Zfp952 C T 17: 33,221,793 (GRCm39) Q53* probably null Het
Other mutations in Myb
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Posted On 2015-04-16