Incidental Mutation 'R9140:Ibtk'
ID 694297
Institutional Source Beutler Lab
Gene Symbol Ibtk
Ensembl Gene ENSMUSG00000035941
Gene Name inhibitor of Bruton agammaglobulinemia tyrosine kinase
Synonyms 5430411K16Rik
MMRRC Submission 068972-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9140 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 85569413-85631387 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 85617114 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 153 (F153L)
Ref Sequence ENSEMBL: ENSMUSP00000041145 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039213] [ENSMUST00000187521]
AlphaFold Q6ZPR6
Predicted Effect probably damaging
Transcript: ENSMUST00000039213
AA Change: F153L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000041145
Gene: ENSMUSG00000035941
AA Change: F153L

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 possibly damaging
Transcript: ENSMUST00000187521
AA Change: F153L

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000139424
Gene: ENSMUSG00000035941
AA Change: F153L

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (69/69)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl9 A T 17: 33,652,170 (GRCm39) I77F possibly damaging Het
Adgb G A 10: 10,216,263 (GRCm39) R1509* probably null Het
Ago1 C A 4: 126,336,977 (GRCm39) V547L probably benign Het
Arhgap21 T A 2: 20,886,025 (GRCm39) Y394F probably damaging Het
C1qa A C 4: 136,623,553 (GRCm39) I217S probably damaging Het
Cacna1b T A 2: 24,525,224 (GRCm39) I1651F probably damaging Het
Car8 T C 4: 8,183,270 (GRCm39) T242A probably benign Het
Ccdc121rt3 A T 5: 112,502,723 (GRCm39) L327Q probably damaging Het
Ccn4 G A 15: 66,791,157 (GRCm39) V320M probably damaging Het
Chrnb4 G A 9: 54,941,955 (GRCm39) H440Y Het
Cic T C 7: 24,985,165 (GRCm39) V1137A probably damaging Het
Ctdp1 C T 18: 80,484,043 (GRCm39) probably null Het
Cyp3a16 G C 5: 145,406,434 (GRCm39) A6G unknown Het
Ddhd1 A C 14: 45,894,918 (GRCm39) L184R probably benign Het
Dnttip1 A G 2: 164,596,082 (GRCm39) D109G possibly damaging Het
Dsc3 T A 18: 20,122,616 (GRCm39) M103L probably benign Het
Dusp9 TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG X: 72,684,217 (GRCm39) probably benign Het
Elapor2 T C 5: 9,449,226 (GRCm39) V118A probably benign Het
Eya2 T C 2: 165,608,977 (GRCm39) L439S probably damaging Het
Eya3 A G 4: 132,428,411 (GRCm39) N311S possibly damaging Het
Fam151a C T 4: 106,605,344 (GRCm39) R569* probably null Het
Fer1l5 A G 1: 36,460,047 (GRCm39) probably benign Het
Fnbp4 A G 2: 90,576,077 (GRCm39) T93A unknown Het
Fosl2 T C 5: 32,310,042 (GRCm39) S164P probably damaging Het
Galc T C 12: 98,173,673 (GRCm39) T630A probably null Het
Gm5916 G T 9: 36,031,982 (GRCm39) Q101K unknown Het
Gm7138 A T 10: 77,612,682 (GRCm39) probably benign Het
Habp2 A G 19: 56,307,934 (GRCm39) K474R probably benign Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Jup C T 11: 100,270,391 (GRCm39) C372Y probably damaging Het
Kirrel3 C T 9: 34,924,596 (GRCm39) A268V probably benign Het
Kprp G T 3: 92,732,458 (GRCm39) Y197* probably null Het
Kri1 C T 9: 21,187,434 (GRCm39) R471H Het
Krt17 C A 11: 100,148,476 (GRCm39) A322S possibly damaging Het
Leng9 A T 7: 4,152,657 (GRCm39) D6E probably benign Het
Macf1 A T 4: 123,367,855 (GRCm39) I2302K possibly damaging Het
Manba G A 3: 135,191,490 (GRCm39) V17M probably benign Het
Mical2 A G 7: 112,006,826 (GRCm39) K582E probably damaging Het
Mknk2 A G 10: 80,507,427 (GRCm39) V102A probably benign Het
Myh1 G A 11: 67,100,089 (GRCm39) G636D probably benign Het
Or51q1c A G 7: 103,653,322 (GRCm39) N280S probably damaging Het
P2rx7 G A 5: 122,790,789 (GRCm39) probably null Het
Pcmt1 A G 10: 7,514,678 (GRCm39) *177R probably null Het
Pla2r1 T C 2: 60,271,455 (GRCm39) K959R probably benign Het
Plat A G 8: 23,270,562 (GRCm39) D493G probably damaging Het
Prr30 A G 14: 101,436,430 (GRCm39) L44P probably benign Het
Ptx4 T C 17: 25,344,180 (GRCm39) C477R probably damaging Het
Pus10 A G 11: 23,622,625 (GRCm39) S82G probably benign Het
Pygo1 A G 9: 72,852,988 (GRCm39) T392A probably benign Het
Rad54b C A 4: 11,610,386 (GRCm39) L668I probably damaging Het
Rdh19 A C 10: 127,692,830 (GRCm39) M166L Het
Retnlg C A 16: 48,693,288 (GRCm39) Q22K possibly damaging Het
Rfc3 G T 5: 151,568,141 (GRCm39) T249K probably benign Het
Rgs16 T A 1: 153,619,381 (GRCm39) V129E probably damaging Het
Rptn T A 3: 93,303,445 (GRCm39) Y259* probably null Het
Sema6a T C 18: 47,415,009 (GRCm39) N427S probably benign Het
Slc7a13 T C 4: 19,819,487 (GRCm39) I229T possibly damaging Het
Slitrk3 A T 3: 72,957,792 (GRCm39) Y327N probably benign Het
Smtnl2 A G 11: 72,290,793 (GRCm39) L384P probably damaging Het
Stil G T 4: 114,864,449 (GRCm39) V117F probably damaging Het
Tada1 T C 1: 166,216,177 (GRCm39) V126A probably benign Het
Tasor2 G A 13: 3,638,441 (GRCm39) T430I probably benign Het
Tmem30c T C 16: 57,090,482 (GRCm39) I242V probably damaging Het
Tnnt2 T A 1: 135,768,635 (GRCm39) V8E Het
Ttn A G 2: 76,774,240 (GRCm39) V2268A unknown Het
Uspl1 G T 5: 149,150,290 (GRCm39) A497S possibly damaging Het
Vmn2r1 A T 3: 63,997,465 (GRCm39) N374Y probably benign Het
Vmn2r27 A G 6: 124,169,207 (GRCm39) F641S probably damaging Het
Vmn2r52 T A 7: 9,892,643 (GRCm39) Y832F probably damaging Het
Zfp748 C T 13: 67,689,073 (GRCm39) C729Y probably damaging Het
Other mutations in Ibtk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00656:Ibtk APN 9 85,599,598 (GRCm39) splice site probably null
IGL00852:Ibtk APN 9 85,595,654 (GRCm39) missense probably benign 0.01
IGL00907:Ibtk APN 9 85,572,384 (GRCm39) missense possibly damaging 0.51
IGL01101:Ibtk APN 9 85,614,675 (GRCm39) splice site probably benign
IGL02125:Ibtk APN 9 85,617,123 (GRCm39) missense probably damaging 1.00
IGL02214:Ibtk APN 9 85,596,232 (GRCm39) splice site probably benign
IGL02223:Ibtk APN 9 85,592,419 (GRCm39) splice site probably benign
IGL02638:Ibtk APN 9 85,601,946 (GRCm39) missense probably damaging 1.00
IGL02741:Ibtk APN 9 85,608,665 (GRCm39) missense probably damaging 1.00
IGL03299:Ibtk APN 9 85,603,189 (GRCm39) missense probably benign 0.27
IGL03493:Ibtk APN 9 85,600,972 (GRCm39) missense probably benign 0.44
Biddie UTSW 9 85,579,290 (GRCm39) missense possibly damaging 0.87
R0026:Ibtk UTSW 9 85,572,356 (GRCm39) missense probably benign
R0026:Ibtk UTSW 9 85,572,356 (GRCm39) missense probably benign
R0558:Ibtk UTSW 9 85,619,591 (GRCm39) missense probably damaging 0.99
R0569:Ibtk UTSW 9 85,590,234 (GRCm39) splice site probably benign
R0932:Ibtk UTSW 9 85,617,099 (GRCm39) missense probably damaging 1.00
R0973:Ibtk UTSW 9 85,625,630 (GRCm39) missense probably damaging 1.00
R1237:Ibtk UTSW 9 85,602,801 (GRCm39) missense probably benign 0.00
R1245:Ibtk UTSW 9 85,602,795 (GRCm39) critical splice donor site probably null
R1462:Ibtk UTSW 9 85,606,198 (GRCm39) missense probably damaging 0.99
R1462:Ibtk UTSW 9 85,606,198 (GRCm39) missense probably damaging 0.99
R1921:Ibtk UTSW 9 85,585,135 (GRCm39) missense probably benign
R2090:Ibtk UTSW 9 85,603,046 (GRCm39) missense probably benign 0.01
R2109:Ibtk UTSW 9 85,588,603 (GRCm39) missense probably benign
R2277:Ibtk UTSW 9 85,585,204 (GRCm39) missense probably benign
R2437:Ibtk UTSW 9 85,590,178 (GRCm39) missense probably benign 0.27
R2446:Ibtk UTSW 9 85,585,126 (GRCm39) missense probably benign 0.22
R3107:Ibtk UTSW 9 85,592,467 (GRCm39) missense probably damaging 1.00
R3876:Ibtk UTSW 9 85,600,479 (GRCm39) missense probably benign 0.06
R4160:Ibtk UTSW 9 85,585,143 (GRCm39) missense probably benign 0.01
R4273:Ibtk UTSW 9 85,608,784 (GRCm39) missense probably damaging 1.00
R4321:Ibtk UTSW 9 85,617,125 (GRCm39) missense possibly damaging 0.49
R4827:Ibtk UTSW 9 85,610,607 (GRCm39) missense probably benign 0.04
R4947:Ibtk UTSW 9 85,592,465 (GRCm39) missense probably benign 0.00
R5228:Ibtk UTSW 9 85,608,742 (GRCm39) missense possibly damaging 0.58
R5268:Ibtk UTSW 9 85,625,743 (GRCm39) missense probably benign 0.00
R5327:Ibtk UTSW 9 85,619,519 (GRCm39) critical splice donor site probably null
R5344:Ibtk UTSW 9 85,617,057 (GRCm39) missense possibly damaging 0.90
R5414:Ibtk UTSW 9 85,608,742 (GRCm39) missense possibly damaging 0.58
R5502:Ibtk UTSW 9 85,602,916 (GRCm39) missense probably benign 0.13
R5756:Ibtk UTSW 9 85,613,307 (GRCm39) missense possibly damaging 0.51
R7144:Ibtk UTSW 9 85,625,744 (GRCm39) missense probably benign 0.03
R7196:Ibtk UTSW 9 85,625,709 (GRCm39) missense probably damaging 1.00
R7490:Ibtk UTSW 9 85,600,987 (GRCm39) critical splice acceptor site probably null
R7571:Ibtk UTSW 9 85,604,353 (GRCm39) missense probably benign
R7757:Ibtk UTSW 9 85,579,290 (GRCm39) missense possibly damaging 0.87
R8007:Ibtk UTSW 9 85,572,770 (GRCm39) missense probably benign 0.09
R8065:Ibtk UTSW 9 85,602,916 (GRCm39) missense probably benign 0.13
R8407:Ibtk UTSW 9 85,603,119 (GRCm39) missense possibly damaging 0.93
R8711:Ibtk UTSW 9 85,606,208 (GRCm39) missense probably benign
R8753:Ibtk UTSW 9 85,610,819 (GRCm39) missense probably benign 0.01
R8835:Ibtk UTSW 9 85,619,563 (GRCm39) missense possibly damaging 0.50
R8906:Ibtk UTSW 9 85,625,457 (GRCm39) missense possibly damaging 0.91
R8980:Ibtk UTSW 9 85,614,783 (GRCm39) nonsense probably null
R9230:Ibtk UTSW 9 85,585,702 (GRCm39) critical splice donor site probably null
R9406:Ibtk UTSW 9 85,603,393 (GRCm39) nonsense probably null
R9745:Ibtk UTSW 9 85,613,280 (GRCm39) missense probably benign 0.02
X0021:Ibtk UTSW 9 85,579,227 (GRCm39) missense possibly damaging 0.69
Predicted Primers PCR Primer
(F):5'- GACCTTCAAAAGAGTAAAACTGTGC -3'
(R):5'- CAGAGTCAGGCTTTAACTGGG -3'

Sequencing Primer
(F):5'- AAGAGTAAAACTGTGCAAGATCC -3'
(R):5'- ACTACAATTGCTCTAAATATGGGAAC -3'
Posted On 2022-01-20