Incidental Mutation 'IGL02647:Bmx'
ID301985
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bmx
Ensembl Gene ENSMUSG00000031377
Gene NameBMX non-receptor tyrosine kinase
SynonymsEtk, Etk/Bmx, Tyro8
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL02647
Quality Score
Status
ChromosomeX
Chromosomal Location164192842-164258193 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 164205235 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 495 (E495G)
Ref Sequence ENSEMBL: ENSMUSP00000107884 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112263] [ENSMUST00000112265]
Predicted Effect probably benign
Transcript: ENSMUST00000112263
AA Change: E491G

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000107882
Gene: ENSMUSG00000031377
AA Change: E491G

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: E495G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107884
Gene: ENSMUSG00000031377
AA Change: E495G

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
Actr8 A T 14: 29,990,890 R497W probably damaging Het
AF366264 T C 8: 13,836,979 T371A probably damaging Het
Als2cr12 T C 1: 58,670,454 T181A probably benign Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
Cbx5 T C 15: 103,200,903 probably null Het
Cenpj C T 14: 56,530,079 V1203M probably damaging Het
Ces1b T C 8: 93,057,044 H516R probably benign Het
D430041D05Rik T C 2: 104,248,266 N1235S probably damaging Het
Depdc1a A T 3: 159,522,866 K418N probably damaging Het
Dysf G A 6: 84,137,373 V1215M probably damaging Het
Foxf2 A T 13: 31,627,235 N386Y probably damaging Het
Frem1 A T 4: 83,001,754 V455E probably damaging Het
Fzd7 C A 1: 59,484,395 P479Q probably damaging Het
Hnmt G A 2: 24,014,307 S114F possibly damaging Het
Irf3 A G 7: 45,000,376 N6S probably benign Het
Krt26 C T 11: 99,333,645 R349Q probably benign Het
Lrba A G 3: 86,359,731 D1576G probably benign Het
Lsg1 A T 16: 30,585,552 probably null Het
Mal2 T C 15: 54,588,437 F85L probably damaging Het
Me2 A C 18: 73,797,903 S106R probably benign Het
Med21 T C 6: 146,649,233 S81P probably benign Het
Mos T C 4: 3,870,961 Y285C probably damaging Het
Mtmr1 A G X: 71,393,333 N256S probably damaging Het
Olfr868 T A 9: 20,101,209 M150K probably benign Het
Prl3d2 A C 13: 27,126,016 T155P probably benign Het
R3hdm2 C T 10: 127,459,484 S240L probably damaging Het
Skint6 A T 4: 113,127,891 probably benign Het
Ubr5 A G 15: 37,992,082 S1933P probably damaging Het
Veph1 A T 3: 66,159,448 probably benign Het
Xpo7 A G 14: 70,685,465 F557S probably damaging Het
Zfp647 T C 15: 76,917,715 E30G probably damaging Het
Zfp655 A T 5: 145,243,006 I75L probably benign Het
Zfp981 C A 4: 146,537,252 Y211* probably null Het
Other mutations in Bmx
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03227:Bmx APN X 164203196 missense probably damaging 1.00
R1909:Bmx UTSW X 164239415 missense probably benign 0.03
R1990:Bmx UTSW X 164232196 missense probably benign 0.30
X0018:Bmx UTSW X 164249045 missense probably benign 0.02
Posted On2015-04-16