Incidental Mutation 'IGL03227:Bmx'
ID 414124
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bmx
Ensembl Gene ENSMUSG00000031377
Gene Name BMX non-receptor tyrosine kinase
Synonyms Etk/Bmx, Etk, Tyro8
Accession Numbers
Essential gene? Not available question?
Stock # IGL03227
Quality Score
Status
Chromosome X
Chromosomal Location 162975838-163041189 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 162986192 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 537 (M537T)
Ref Sequence ENSEMBL: ENSMUSP00000107884 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112263] [ENSMUST00000112265]
AlphaFold P97504
Predicted Effect probably damaging
Transcript: ENSMUST00000112263
AA Change: M533T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107882
Gene: ENSMUSG00000031377
AA Change: M533T

DomainStartEndE-ValueType
PH 5 113 1.38e-16 SMART
BTK 113 149 1.89e-20 SMART
low complexity region 257 265 N/A INTRINSIC
SH2 270 359 1.38e-30 SMART
TyrKc 393 642 1.21e-131 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000112265
AA Change: M537T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107884
Gene: ENSMUSG00000031377
AA Change: M537T

DomainStartEndE-ValueType
PH 9 117 1.38e-16 SMART
BTK 117 153 1.89e-20 SMART
low complexity region 261 269 N/A INTRINSIC
SH2 274 363 1.38e-30 SMART
TyrKc 397 646 1.21e-131 SMART
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 non-receptor tyrosine kinase belonging to the Tec kinase family. The protein contains a PH-like domain, which mediates membrane targeting by binding to phosphatidylinositol 3,4,5-triphosphate (PIP3), and a SH2 domain that binds to tyrosine-phosphorylated proteins and functions in signal transduction. The protein is implicated in several signal transduction pathways including the Stat pathway, and regulates differentiation and tumorigenicity of several types of cancer cells. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2016]
PHENOTYPE: Mice homozygous for a null mutation are fertile and have a normal life span but are protected from arthritis in a passive transfer model. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 C T 1: 25,586,556 (GRCm39) G172E probably damaging Het
Alas2 A G X: 149,340,262 (GRCm39) K151E probably damaging Het
Apob A G 12: 8,066,089 (GRCm39) T4353A probably benign Het
Arhgef1 C A 7: 24,622,276 (GRCm39) D554E probably damaging Het
Atad2b T A 12: 5,056,715 (GRCm39) L857Q probably damaging Het
Atp2b4 C A 1: 133,657,445 (GRCm39) probably benign Het
Bche C A 3: 73,608,945 (GRCm39) K160N probably damaging Het
Bysl T C 17: 47,922,017 (GRCm39) N27S probably benign Het
Ccdc110 T A 8: 46,394,586 (GRCm39) L159H probably damaging Het
Cd34 G A 1: 194,640,771 (GRCm39) C212Y probably damaging Het
Erich2 C T 2: 70,343,114 (GRCm39) probably benign Het
Fap T A 2: 62,361,107 (GRCm39) probably null Het
Fitm2 T C 2: 163,311,452 (GRCm39) T254A probably benign Het
Fscn3 T C 6: 28,434,429 (GRCm39) S335P probably benign Het
Grk2 C T 19: 4,337,857 (GRCm39) E508K probably benign Het
Lbr T C 1: 181,663,620 (GRCm39) probably null Het
Lct A T 1: 128,255,426 (GRCm39) F205L probably benign Het
Magi3 A T 3: 103,958,435 (GRCm39) I550N probably benign Het
Med13 A G 11: 86,218,618 (GRCm39) probably benign Het
Msh3 A T 13: 92,422,468 (GRCm39) S563T probably damaging Het
Msra A G 14: 64,551,192 (GRCm39) V50A probably benign Het
Or7g25 A G 9: 19,160,518 (GRCm39) M59T probably damaging Het
Pcdhb13 T A 18: 37,576,711 (GRCm39) V363E probably damaging Het
Piezo2 G A 18: 63,257,677 (GRCm39) T347M probably damaging Het
Rapgef2 T C 3: 78,999,920 (GRCm39) probably benign Het
Rtl9 A C X: 141,882,824 (GRCm39) T79P probably benign Het
Slc15a2 A G 16: 36,576,410 (GRCm39) probably null Het
Slc51a G A 16: 32,297,568 (GRCm39) R110C probably damaging Het
Smurf1 G T 5: 144,835,992 (GRCm39) P123H probably damaging Het
Strn4 A G 7: 16,571,639 (GRCm39) T590A possibly damaging Het
Trpm6 T C 19: 18,796,483 (GRCm39) S780P probably benign Het
Trpm6 T C 19: 18,764,143 (GRCm39) Y250H probably benign Het
Zfp770 A T 2: 114,027,570 (GRCm39) C166* probably null Het
Other mutations in Bmx
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02647:Bmx APN X 162,988,231 (GRCm39) missense probably damaging 1.00
R1909:Bmx UTSW X 163,022,411 (GRCm39) missense probably benign 0.03
R1990:Bmx UTSW X 163,015,192 (GRCm39) missense probably benign 0.30
X0018:Bmx UTSW X 163,032,041 (GRCm39) missense probably benign 0.02
Posted On 2016-08-02