Incidental Mutation 'IGL00551:Btk'
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ID3092
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Btk
Ensembl Gene ENSMUSG00000031264
Gene NameBruton agammaglobulinemia tyrosine kinase
Synonymsxid, X-linked immune deficiency, Bruton's tyrosine kinase
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.367) question?
Stock #IGL00551
Quality Score
Status
ChromosomeX
Chromosomal Location134542336-134583570 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 134573934 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 42 (Y42H)
Ref Sequence ENSEMBL: ENSMUSP00000108839 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033617] [ENSMUST00000113213]
Predicted Effect probably damaging
Transcript: ENSMUST00000033617
AA Change: Y42H

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000033617
Gene: ENSMUSG00000031264
AA Change: Y42H

DomainStartEndE-ValueType
PH 4 135 1.23e-13 SMART
BTK 135 171 1.95e-22 SMART
low complexity region 183 192 N/A INTRINSIC
SH3 217 273 1.95e-19 SMART
SH2 279 368 2.47e-32 SMART
TyrKc 402 651 2.14e-137 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000113213
AA Change: Y42H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108839
Gene: ENSMUSG00000031264
AA Change: Y42H

DomainStartEndE-ValueType
PH 4 135 1.23e-13 SMART
BTK 135 171 1.95e-22 SMART
low complexity region 183 192 N/A INTRINSIC
SH3 217 273 1.95e-19 SMART
SH2 279 353 1.02e-15 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128333
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132664
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150245
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene plays a crucial role in B-cell development. Mutations in this gene cause X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013]
PHENOTYPE: Mutants have immune defects including reduced B cell numbers, serum immunoglobulin deficiencies, and defective responses to B cell activators and thymus-independent antigens. B-1 B cells are absent in these mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Art2b C T 7: 101,580,569 C41Y probably damaging Het
Cacna1e T C 1: 154,403,683 D1720G probably damaging Het
Ccr5 T C 9: 124,124,588 I76T probably damaging Het
Chd3 A G 11: 69,346,629 V1913A probably damaging Het
Dmxl2 A G 9: 54,450,838 Y526H probably damaging Het
Dnah8 A T 17: 30,663,478 K675* probably null Het
Eif2b1 A G 5: 124,576,869 F115L probably damaging Het
Erlin1 T C 19: 44,059,146 D112G probably damaging Het
Fabp12 A G 3: 10,246,055 probably benign Het
Fam47c A G X: 78,738,454 E214G probably damaging Het
Fkbp5 G T 17: 28,401,046 probably benign Het
Hist1h1c C A 13: 23,738,845 probably benign Het
Kidins220 G T 12: 25,038,560 probably benign Het
Limd2 T C 11: 106,159,205 E15G probably benign Het
Mga T A 2: 119,919,814 C696S possibly damaging Het
Naa16 A G 14: 79,355,729 F468L probably damaging Het
Ndufaf1 A G 2: 119,660,469 S37P probably damaging Het
Phrf1 A G 7: 141,258,877 probably benign Het
Prr14 A G 7: 127,474,647 T228A probably benign Het
Rfc1 A T 5: 65,296,009 F265L probably benign Het
Selenos A G 7: 66,087,194 E137G probably benign Het
Tars T C 15: 11,388,221 probably null Het
Tpcn1 A G 5: 120,560,325 I44T probably benign Het
Usp26 A G X: 51,757,305 V31A probably benign Het
Other mutations in Btk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00686:Btk APN X 134559264 missense probably damaging 1.00
IGL02328:Btk APN X 134558700 missense probably damaging 0.99
LCD18:Btk UTSW X 134578825 intron probably benign
R2017:Btk UTSW X 134547601 missense probably benign 0.36
Posted On2012-04-20