Incidental Mutation 'IGL02223:Ibtk'
ID285247
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ibtk
Ensembl Gene ENSMUSG00000035941
Gene Nameinhibitor of Bruton agammaglobulinemia tyrosine kinase
Synonyms5430411K16Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02223
Quality Score
Status
Chromosome9
Chromosomal Location85687360-85749334 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 85710366 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000139424 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039213] [ENSMUST00000187521]
Predicted Effect probably benign
Transcript: ENSMUST00000039213
SMART Domains Protein: ENSMUSP00000041145
Gene: ENSMUSG00000035941

DomainStartEndE-ValueType
ANK 51 80 2e0 SMART
ANK 85 114 2.58e-3 SMART
Pfam:RCC1 143 192 8.1e-10 PFAM
Pfam:RCC1 195 244 1.1e-14 PFAM
Pfam:RCC1 247 299 5.3e-13 PFAM
low complexity region 307 318 N/A INTRINSIC
low complexity region 543 551 N/A INTRINSIC
BTB 565 745 5.48e-13 SMART
BTB 769 872 4.09e-12 SMART
low complexity region 977 990 N/A INTRINSIC
low complexity region 1269 1281 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186322
Predicted Effect probably benign
Transcript: ENSMUST00000187521
SMART Domains Protein: ENSMUSP00000139424
Gene: ENSMUSG00000035941

DomainStartEndE-ValueType
ANK 51 80 1.3e-2 SMART
ANK 85 114 1.7e-5 SMART
Pfam:RCC1 143 192 1.9e-8 PFAM
Pfam:RCC1 195 244 1.4e-12 PFAM
Pfam:RCC1 247 299 2.7e-10 PFAM
low complexity region 307 318 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188768
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Bruton tyrosine kinase (BTK) is a protein tyrosine kinase that is expressed in B cells, macrophages, and neutrophils. The protein encoded by this gene binds to BTK and downregulates BTK's kinase activity. In addition, the encoded protein disrupts BTK-mediated calcium mobilization and negatively regulates the activation of nuclear factor-kappa-B-driven transcription. This gene has a pseudogene on chromosome 18. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit more sustained calcium fluxes in spleen cells stimulated with IgM. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 C T 17: 24,287,935 W1148* probably null Het
Adam17 A G 12: 21,361,705 S62P possibly damaging Het
Akap8 T C 17: 32,316,647 Y131C probably damaging Het
Ccdc151 G A 9: 21,993,612 R293C probably damaging Het
Ccdc169 A G 3: 55,142,300 N48S probably benign Het
Ccdc80 A G 16: 45,095,603 T241A probably damaging Het
Cct7 G T 6: 85,462,041 M112I probably benign Het
Cftr G A 6: 18,221,482 A198T probably damaging Het
Crk T C 11: 75,703,379 V264A probably damaging Het
Ddx58 T C 4: 40,209,993 N692D possibly damaging Het
Dhx34 T C 7: 16,198,659 T1071A probably benign Het
Dlst A G 12: 85,130,918 I362V probably benign Het
Fat2 T C 11: 55,273,129 E3100G probably benign Het
Fbxo11 A G 17: 88,009,286 V323A probably benign Het
Foxe3 C A 4: 114,925,709 R102L probably damaging Het
Gale T C 4: 135,966,506 F162S probably damaging Het
Gipc2 G A 3: 152,128,050 P198L probably damaging Het
Gm5258 A G 1: 86,323,396 noncoding transcript Het
Gpatch11 A G 17: 78,845,179 T259A probably benign Het
H2-M10.3 T C 17: 36,368,080 N32S possibly damaging Het
Hdlbp T C 1: 93,412,449 I999V probably damaging Het
Ift46 A G 9: 44,786,312 S165G probably damaging Het
Igsf1 A G X: 49,785,020 S389P probably damaging Het
Lrrd1 A C 5: 3,850,211 N172T probably benign Het
Mamdc2 G A 19: 23,359,143 probably benign Het
Matn2 A G 15: 34,423,718 N574S probably benign Het
Med1 T C 11: 98,157,876 D683G probably damaging Het
Mon1a A G 9: 107,901,285 E236G probably damaging Het
Moxd2 T A 6: 40,885,033 I202F probably damaging Het
Nif3l1 T A 1: 58,448,043 Y129* probably null Het
Nlrp5 T C 7: 23,430,022 probably benign Het
Olfr177 C T 16: 58,872,694 G152E probably damaging Het
Pcx T C 19: 4,601,978 Y84H probably damaging Het
Pom121l2 T C 13: 21,982,095 S179P probably benign Het
Rexo4 C A 2: 26,955,499 C369F probably damaging Het
Scmh1 C A 4: 120,515,219 H406Q probably benign Het
Slc12a8 A G 16: 33,624,690 D372G probably damaging Het
Snip1 T C 4: 125,072,752 F325S possibly damaging Het
Spr-ps1 C T 6: 85,155,199 noncoding transcript Het
Stk36 A G 1: 74,623,337 Y538C possibly damaging Het
Svil A G 18: 5,105,879 probably benign Het
Syne2 A G 12: 76,108,305 T6787A probably benign Het
Tbcel T G 9: 42,451,718 M10L probably benign Het
Tesk2 T A 4: 116,741,825 Y43* probably null Het
Tjp1 C T 7: 65,322,601 R605Q probably damaging Het
Tmem65 A G 15: 58,790,151 probably benign Het
Tnnt2 A G 1: 135,842,015 probably benign Het
Trmt44 T C 5: 35,574,645 E134G probably benign Het
Trpv2 T C 11: 62,581,255 L91P probably benign Het
Ttn G A 2: 76,977,119 T90I probably damaging Het
Yy1 A G 12: 108,793,540 E43G unknown Het
Other mutations in Ibtk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00656:Ibtk APN 9 85717545 splice site probably null
IGL00852:Ibtk APN 9 85713601 missense probably benign 0.01
IGL00907:Ibtk APN 9 85690331 missense possibly damaging 0.51
IGL01101:Ibtk APN 9 85732622 splice site probably benign
IGL02125:Ibtk APN 9 85735070 missense probably damaging 1.00
IGL02214:Ibtk APN 9 85714179 splice site probably benign
IGL02638:Ibtk APN 9 85719893 missense probably damaging 1.00
IGL02741:Ibtk APN 9 85726612 missense probably damaging 1.00
IGL03299:Ibtk APN 9 85721136 missense probably benign 0.27
IGL03493:Ibtk APN 9 85718919 missense probably benign 0.44
R0026:Ibtk UTSW 9 85690303 missense probably benign
R0026:Ibtk UTSW 9 85690303 missense probably benign
R0558:Ibtk UTSW 9 85737538 missense probably damaging 0.99
R0569:Ibtk UTSW 9 85708181 splice site probably benign
R0932:Ibtk UTSW 9 85735046 missense probably damaging 1.00
R0973:Ibtk UTSW 9 85743577 missense probably damaging 1.00
R1237:Ibtk UTSW 9 85720748 missense probably benign 0.00
R1245:Ibtk UTSW 9 85720742 critical splice donor site probably null
R1462:Ibtk UTSW 9 85724145 missense probably damaging 0.99
R1462:Ibtk UTSW 9 85724145 missense probably damaging 0.99
R1921:Ibtk UTSW 9 85703082 missense probably benign
R2090:Ibtk UTSW 9 85720993 missense probably benign 0.01
R2109:Ibtk UTSW 9 85706550 missense probably benign
R2277:Ibtk UTSW 9 85703151 missense probably benign
R2437:Ibtk UTSW 9 85708125 missense probably benign 0.27
R2446:Ibtk UTSW 9 85703073 missense probably benign 0.22
R3107:Ibtk UTSW 9 85710414 missense probably damaging 1.00
R3876:Ibtk UTSW 9 85718426 missense probably benign 0.06
R4160:Ibtk UTSW 9 85703090 missense probably benign 0.01
R4273:Ibtk UTSW 9 85726731 missense probably damaging 1.00
R4321:Ibtk UTSW 9 85735072 missense possibly damaging 0.49
R4827:Ibtk UTSW 9 85728554 missense probably benign 0.04
R4947:Ibtk UTSW 9 85710412 missense probably benign 0.00
R5228:Ibtk UTSW 9 85726689 missense possibly damaging 0.58
R5268:Ibtk UTSW 9 85743690 missense probably benign 0.00
R5327:Ibtk UTSW 9 85737466 critical splice donor site probably null
R5344:Ibtk UTSW 9 85735004 missense possibly damaging 0.90
R5414:Ibtk UTSW 9 85726689 missense possibly damaging 0.58
R5502:Ibtk UTSW 9 85720863 missense probably benign 0.13
R5756:Ibtk UTSW 9 85731254 missense possibly damaging 0.51
X0021:Ibtk UTSW 9 85697174 missense possibly damaging 0.69
Posted On2015-04-16