Incidental Mutation 'R0026:Ibtk'
ID 64500
Institutional Source Beutler Lab
Gene Symbol Ibtk
Ensembl Gene ENSMUSG00000035941
Gene Name inhibitor of Bruton agammaglobulinemia tyrosine kinase
Synonyms 5430411K16Rik
MMRRC Submission 038321-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0026 (G1)
Quality Score 130
Status Validated
Chromosome 9
Chromosomal Location 85569413-85631387 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 85572356 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1278 (V1278A)
Ref Sequence ENSEMBL: ENSMUSP00000041145 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039213] [ENSMUST00000187521]
AlphaFold Q6ZPR6
Predicted Effect probably benign
Transcript: ENSMUST00000039213
AA Change: V1278A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000041145
Gene: ENSMUSG00000035941
AA Change: V1278A

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
Meta Mutation Damage Score 0.0630 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.9%
  • 10x: 97.8%
  • 20x: 96.3%
Validation Efficiency 93% (70/75)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T A 3: 137,772,566 (GRCm39) I585N possibly damaging Het
A830005F24Rik C T 13: 48,667,848 (GRCm39) probably benign Het
Abca16 C T 7: 120,077,146 (GRCm39) probably benign Het
Acot10 G A 15: 20,666,322 (GRCm39) L140F probably benign Het
Adam19 G T 11: 46,027,086 (GRCm39) C573F probably damaging Het
Aff3 A G 1: 38,242,974 (GRCm39) S948P probably benign Het
Anxa3 T A 5: 96,986,260 (GRCm39) Y300N probably benign Het
BC016579 T C 16: 45,460,730 (GRCm39) T113A probably benign Het
Bmpr1b A G 3: 141,576,494 (GRCm39) L113P probably benign Het
Casq1 T C 1: 172,046,967 (GRCm39) probably benign Het
Cdc16 T A 8: 13,809,130 (GRCm39) probably null Het
Cep135 C T 5: 76,754,581 (GRCm39) R353* probably null Het
Cma1 A T 14: 56,179,621 (GRCm39) C188S probably damaging Het
Csf3r A G 4: 125,925,677 (GRCm39) T151A probably benign Het
Cyp4b1 C T 4: 115,504,718 (GRCm39) G56D possibly damaging Het
Dbn1 T C 13: 55,625,597 (GRCm39) E275G probably damaging Het
Dlgap2 C T 8: 14,777,363 (GRCm39) Q203* probably null Het
Ephb3 A G 16: 21,033,667 (GRCm39) D251G probably damaging Het
Fancd2os G T 6: 113,574,652 (GRCm39) T118N probably damaging Het
Gm10801 T C 2: 98,494,254 (GRCm39) probably benign Het
Got1l1 C T 8: 27,690,276 (GRCm39) V132I probably benign Het
H2-M9 T C 17: 36,952,419 (GRCm39) probably benign Het
Kctd3 T C 1: 188,708,818 (GRCm39) T519A probably damaging Het
Lgsn T A 1: 31,242,524 (GRCm39) V202D probably damaging Het
Madd A G 2: 91,006,053 (GRCm39) F381L possibly damaging Het
Map1s G A 8: 71,367,282 (GRCm39) G729D probably damaging Het
Mlycd A G 8: 120,137,174 (GRCm39) I465V probably benign Het
Mrgprb1 T C 7: 48,096,952 (GRCm39) R108G possibly damaging Het
Mrgprx2 T A 7: 48,131,771 (GRCm39) H106L possibly damaging Het
Ncor1 T C 11: 62,329,255 (GRCm39) Y6C probably damaging Het
Nfkb1 T C 3: 135,297,334 (GRCm39) D773G probably damaging Het
Nxnl1 A G 8: 72,019,217 (GRCm39) S3P probably damaging Het
Or12d17 T A 17: 37,777,694 (GRCm39) V199D probably damaging Het
Or8b54 G A 9: 38,686,892 (GRCm39) V114I probably benign Het
Otud7a T C 7: 63,385,549 (GRCm39) F338L probably benign Het
Pdcl3 T A 1: 39,030,361 (GRCm39) L14Q probably damaging Het
Pla2g7 T A 17: 43,905,821 (GRCm39) probably benign Het
Prpf31 T A 7: 3,642,667 (GRCm39) N413K probably benign Het
Rapgef5 T C 12: 117,652,896 (GRCm39) S307P probably benign Het
Relt C A 7: 100,499,428 (GRCm39) E164* probably null Het
Rnf185 T C 11: 3,376,617 (GRCm39) D86G probably damaging Het
Rrm2b T C 15: 37,953,985 (GRCm39) E21G probably benign Het
Scn5a A G 9: 119,351,632 (GRCm39) I783T probably damaging Het
Senp1 T C 15: 97,974,549 (GRCm39) R88G probably damaging Het
Skint5 A T 4: 113,403,665 (GRCm39) probably benign Het
Slc35b1 T C 11: 95,281,468 (GRCm39) S294P probably benign Het
Slc5a2 T A 7: 127,869,225 (GRCm39) I335N probably damaging Het
Spata31e2 T A 1: 26,722,450 (GRCm39) D910V probably benign Het
Sstr1 T A 12: 58,259,644 (GRCm39) M89K probably damaging Het
Szt2 A T 4: 118,241,969 (GRCm39) S1612R possibly damaging Het
Taf1c T C 8: 120,330,975 (GRCm39) probably null Het
Taf1d T A 9: 15,219,944 (GRCm39) S64R probably damaging Het
Tmem125 A G 4: 118,399,270 (GRCm39) S54P possibly damaging Het
Ttf1 T A 2: 28,961,361 (GRCm39) I583N possibly damaging Het
Uchl4 A T 9: 64,142,653 (GRCm39) probably null Het
Unc5b A T 10: 60,610,371 (GRCm39) I482N possibly damaging Het
Unc80 C A 1: 66,560,743 (GRCm39) Q824K probably benign Het
Utrn T C 10: 12,601,940 (GRCm39) probably benign Het
Vmn2r61 T G 7: 41,924,898 (GRCm39) I484R possibly damaging Het
Vps13b T C 15: 35,923,447 (GRCm39) I3774T possibly damaging Het
Yipf1 T A 4: 107,202,357 (GRCm39) L240* probably null 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
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
R9140:Ibtk UTSW 9 85,617,114 (GRCm39) missense probably damaging 1.00
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'- AGACCCAGAGTTGAAATGTACCACAGT -3'
(R):5'- GCACACGGTAATTTGTCTCCTGAGTC -3'

Sequencing Primer
(F):5'- TACCACAGTTCTCAGTGCGAG -3'
(R):5'- CAAGTGAAATGATGGTTCTCCC -3'
Posted On 2013-08-06