Incidental Mutation 'IGL02214:Ibtk'
ID284809
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 #IGL02214
Quality Score
Status
Chromosome9
Chromosomal Location85687360-85749334 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to T at 85714179 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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430097D07Rik T C 2: 32,574,724 probably benign Het
A330008L17Rik T A 8: 99,421,758 noncoding transcript Het
A930004D18Rik A G 2: 18,027,256 L17P unknown Het
Abca14 A T 7: 120,294,175 M1283L probably benign Het
Adarb1 A T 10: 77,322,301 V104E probably damaging Het
Ano1 T A 7: 144,655,708 N252Y possibly damaging Het
Atp6v0a1 A G 11: 101,039,840 S498G probably benign Het
Bdp1 A G 13: 100,041,535 V1942A probably benign Het
Carf T A 1: 60,148,081 D579E probably damaging Het
Cltc A T 11: 86,732,586 S200R probably benign Het
Cpeb1 T C 7: 81,372,057 S113G possibly damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Ehd3 T A 17: 73,820,546 L158H probably damaging Het
Etfa C A 9: 55,464,811 G289W probably damaging Het
Fndc3c1 G A X: 106,425,829 T1029I probably benign Het
Gipr C A 7: 19,157,546 G402V possibly damaging Het
Gm5724 T A 6: 141,723,185 D507V possibly damaging Het
Hacd1 C T 2: 14,026,947 V242M probably damaging Het
Hecw1 A G 13: 14,300,393 L520P probably damaging Het
Igkv16-104 A C 6: 68,425,794 I24L probably benign Het
Kcnh8 A T 17: 52,877,911 Y407F possibly damaging Het
Mansc1 C T 6: 134,610,360 V285M probably benign Het
Mindy4 A G 6: 55,216,651 R110G possibly damaging Het
Morn1 C T 4: 155,092,319 H100Y probably damaging Het
Naip6 A T 13: 100,316,059 S165T probably damaging Het
Olfr1110 T G 2: 87,135,505 K272T probably damaging Het
Olfr538 A T 7: 140,574,557 R135* probably null Het
Prx G T 7: 27,518,912 R946M probably damaging Het
Ptchd1 A G X: 155,573,710 V833A possibly damaging Het
Rgl2 A G 17: 33,935,189 D481G probably benign Het
Serpinb3a A G 1: 107,048,488 probably null Het
Shtn1 T C 19: 58,999,886 probably benign Het
Sult1b1 C T 5: 87,535,090 probably benign Het
Tbl3 T C 17: 24,704,132 probably benign Het
Trappc9 C T 15: 73,012,882 W416* probably null Het
Ubr4 G A 4: 139,461,827 probably null Het
Ubr4 T C 4: 139,428,583 Y2240H possibly damaging Het
Vmn2r76 A C 7: 86,229,930 F387L probably benign Het
Vps8 G A 16: 21,517,285 C729Y probably damaging 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
IGL02223:Ibtk APN 9 85710366 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