Incidental Mutation 'IGL02328:Btk'
ID 288581
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Btk
Ensembl Gene ENSMUSG00000031264
Gene Name Bruton agammaglobulinemia tyrosine kinase
Synonyms Bruton's tyrosine kinase, X-linked immune deficiency, xid
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.367) question?
Stock # IGL02328
Quality Score
Status
Chromosome X
Chromosomal Location 133443085-133484319 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 133459449 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 192 (P192L)
Ref Sequence ENSEMBL: ENSMUSP00000108839 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033617] [ENSMUST00000113213]
AlphaFold P35991
Predicted Effect possibly damaging
Transcript: ENSMUST00000033617
AA Change: P192L

PolyPhen 2 Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000033617
Gene: ENSMUSG00000031264
AA Change: P192L

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: P192L

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000108839
Gene: ENSMUSG00000031264
AA Change: P192L

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: ENSMUST00000132664
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 T A 13: 81,726,294 (GRCm39) N577I probably damaging Het
Arhgef1 T C 7: 24,623,240 (GRCm39) L667P probably damaging Het
Col12a1 T A 9: 79,589,348 (GRCm39) Y1069F probably damaging Het
Dnah7a C T 1: 53,564,096 (GRCm39) probably null Het
E230025N22Rik A G 18: 36,828,667 (GRCm39) S4P probably damaging Het
Ei24 A T 9: 36,696,827 (GRCm39) probably null Het
Foxred2 A G 15: 77,840,032 (GRCm39) L86P probably damaging Het
Gm3127 A T 14: 15,424,989 (GRCm39) R42W probably damaging Het
Hgf A G 5: 16,803,219 (GRCm39) Y377C probably damaging Het
Hpse2 A T 19: 42,920,038 (GRCm39) L354I probably damaging Het
Hspa4 A G 11: 53,190,885 (GRCm39) probably null Het
Iqcg T G 16: 32,839,876 (GRCm39) I357L probably benign Het
Itsn1 T C 16: 91,612,295 (GRCm39) L204P probably damaging Het
Kalrn T C 16: 34,152,594 (GRCm39) N311S probably damaging Het
Lmod2 A G 6: 24,603,832 (GRCm39) D269G probably benign Het
Med16 A G 10: 79,743,376 (GRCm39) S29P probably damaging Het
Mex3b T C 7: 82,518,920 (GRCm39) S412P probably benign Het
Myo15a A G 11: 60,417,433 (GRCm39) I3443V probably benign Het
Naip2 A T 13: 100,297,877 (GRCm39) L720I probably damaging Het
Or1e26 A G 11: 73,480,081 (GRCm39) V161A probably benign Het
Or4z4 T A 19: 12,076,146 (GRCm39) I286F probably damaging Het
Or52ab4 A T 7: 102,987,497 (GRCm39) I79F probably damaging Het
Or6c213 T C 10: 129,573,895 (GRCm39) D297G probably benign Het
Or8b1b A T 9: 38,375,972 (GRCm39) I212F probably benign Het
Pan3 A G 5: 147,466,933 (GRCm39) probably null Het
Pitpnm2 T C 5: 124,259,477 (GRCm39) Q1286R probably damaging Het
Scgb2b24 A G 7: 33,438,050 (GRCm39) probably benign Het
Sh2b3 T C 5: 121,955,922 (GRCm39) D520G probably benign Het
Skint4 T A 4: 111,977,255 (GRCm39) I215N possibly damaging Het
Slc24a5 A G 2: 124,922,559 (GRCm39) D107G probably damaging Het
Slit2 T C 5: 48,387,646 (GRCm39) I549T probably damaging Het
Stambp A G 6: 83,533,363 (GRCm39) L300P possibly damaging Het
Taf2 T C 15: 54,891,772 (GRCm39) N1017S probably benign Het
Tm9sf2 T G 14: 122,380,842 (GRCm39) V145G possibly damaging Het
Tor1aip2 G T 1: 155,940,720 (GRCm39) C342F probably damaging Het
Ubr4 C T 4: 139,206,233 (GRCm39) T4823M probably damaging Het
Vmn1r80 G T 7: 11,927,405 (GRCm39) A172S probably benign Het
Vmn2r67 T A 7: 84,799,898 (GRCm39) N447Y probably benign Het
Zbtb1 A G 12: 76,433,450 (GRCm39) N479D possibly damaging Het
Other mutations in Btk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00551:Btk APN X 133,474,683 (GRCm39) missense probably damaging 1.00
IGL00686:Btk APN X 133,460,013 (GRCm39) missense probably damaging 1.00
LCD18:Btk UTSW X 133,479,574 (GRCm39) intron probably benign
R2017:Btk UTSW X 133,448,350 (GRCm39) missense probably benign 0.36
Posted On 2015-04-16