Incidental Mutation 'R4947:Ibtk'
ID 383510
Institutional Source Beutler Lab
Gene Symbol Ibtk
Ensembl Gene ENSMUSG00000035941
Gene Name inhibitor of Bruton agammaglobulinemia tyrosine kinase
Synonyms 5430411K16Rik
MMRRC Submission 042544-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4947 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 85569413-85631387 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 85592465 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 998 (T998A)
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: T998A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000041145
Gene: ENSMUSG00000035941
AA Change: T998A

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.0%
  • 20x: 87.4%
Validation Efficiency 100% (88/88)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057M21Rik T A 7: 130,959,343 (GRCm39) H119L probably damaging Het
Acvr1c T A 2: 58,205,987 (GRCm39) Q41L probably benign Het
Adamtsl1 A T 4: 85,683,037 (GRCm39) Q36L possibly damaging Het
Bcl2a1a G A 9: 88,839,335 (GRCm39) E78K probably damaging Het
Cdk5rap2 A G 4: 70,146,829 (GRCm39) probably null Het
Copg1 C A 6: 87,880,455 (GRCm39) probably benign Het
Crb2 C T 2: 37,685,343 (GRCm39) probably benign Het
Cstdc6 T C 16: 36,142,127 (GRCm39) Y83C probably damaging Het
Ctbp2 C A 7: 132,601,012 (GRCm39) G584C probably damaging Het
Cyp11b2 T C 15: 74,723,419 (GRCm39) N415S possibly damaging Het
D630003M21Rik T A 2: 158,028,116 (GRCm39) T1095S unknown Het
D630045J12Rik C T 6: 38,125,478 (GRCm39) R1512H probably damaging Het
Dnah5 T A 15: 28,272,518 (GRCm39) V1078E probably benign Het
Donson A T 16: 91,479,439 (GRCm39) D366E probably damaging Het
Evpl T C 11: 116,114,201 (GRCm39) E1163G possibly damaging Het
Fcgbp A G 7: 27,789,237 (GRCm39) K601R probably benign Het
Fez1 A C 9: 36,780,171 (GRCm39) I323L probably damaging Het
Flacc1 T A 1: 58,715,698 (GRCm39) T173S probably benign Het
Fmnl2 T G 2: 52,963,722 (GRCm39) S285A probably benign Het
Frem1 A G 4: 82,884,371 (GRCm39) S1194P probably damaging Het
Gm10754 A T 10: 97,518,010 (GRCm39) probably benign Het
Gm14226 A T 2: 154,866,879 (GRCm39) T279S probably benign Het
Gm16332 G A 1: 139,793,730 (GRCm39) noncoding transcript Het
Gm21718 T A 14: 51,553,416 (GRCm39) noncoding transcript Het
Gm9871 A G 6: 101,773,734 (GRCm39) noncoding transcript Het
Grm1 A G 10: 10,658,377 (GRCm39) F371S probably damaging Het
Gtdc1 T C 2: 44,481,968 (GRCm39) I128V probably null Het
H2-Q3 T A 17: 35,578,708 (GRCm39) noncoding transcript Het
Ifi204 A G 1: 173,583,316 (GRCm39) S301P probably damaging Het
Kcnn1 C A 8: 71,297,073 (GRCm39) A545S probably benign Het
Keap1 T G 9: 21,148,849 (GRCm39) S53R probably benign Het
Lat A G 7: 125,967,110 (GRCm39) V138A probably benign Het
Lrpprc A T 17: 85,078,966 (GRCm39) N249K probably benign Het
Lrrc40 A G 3: 157,769,472 (GRCm39) I557V probably benign Het
Maml3 A G 3: 51,763,960 (GRCm39) F335L probably benign Het
Mcmbp A T 7: 128,314,420 (GRCm39) D265E probably damaging Het
Me3 A G 7: 89,282,222 (GRCm39) H35R probably benign Het
Mif4gd C A 11: 115,500,463 (GRCm39) V32L probably benign Het
Mlana T C 19: 29,677,551 (GRCm39) S18P probably damaging Het
Mpnd T A 17: 56,317,268 (GRCm39) probably benign Het
Ms4a4b T C 19: 11,432,101 (GRCm39) V74A probably benign Het
Mta2 T C 19: 8,923,655 (GRCm39) F133L possibly damaging Het
Myo5a A G 9: 75,030,330 (GRCm39) M150V probably damaging Het
Nbr1 T C 11: 101,465,903 (GRCm39) V487A probably benign Het
Nos3 G A 5: 24,582,853 (GRCm39) C660Y probably damaging Het
Ocln T C 13: 100,676,223 (GRCm39) D90G probably damaging Het
Or12d17 T C 17: 37,777,634 (GRCm39) V179A probably damaging Het
Or1e1c C T 11: 73,266,243 (GRCm39) R223* probably null Het
Or52n5 A G 7: 104,587,949 (GRCm39) D72G possibly damaging Het
Or5h18 A G 16: 58,847,808 (GRCm39) L154P probably damaging Het
Pcdh7 A G 5: 57,879,258 (GRCm39) K938E probably damaging Het
Pcgf3 T C 5: 108,635,827 (GRCm39) F166L probably benign Het
Pid1 A T 1: 84,015,981 (GRCm39) V128E possibly damaging Het
Polr3a A C 14: 24,532,532 (GRCm39) D187E probably benign Het
Prokr2 T C 2: 132,215,573 (GRCm39) D135G probably damaging Het
Rnf141 T C 7: 110,424,527 (GRCm39) T14A possibly damaging Het
Serinc1 T C 10: 57,399,141 (GRCm39) E254G probably damaging Het
Silc1 A T 12: 27,210,227 (GRCm39) noncoding transcript Het
Skint11 T C 4: 114,048,707 (GRCm39) F11L possibly damaging Het
Slc22a28 T C 19: 8,108,816 (GRCm39) T109A probably benign Het
Sntg1 C A 1: 8,853,022 (GRCm39) V43L probably damaging Het
Sp140l2 G A 1: 85,090,203 (GRCm39) A124V probably damaging Het
Strn T C 17: 78,969,208 (GRCm39) D398G probably damaging Het
Tacc2 A T 7: 130,227,629 (GRCm39) E1438V probably damaging Het
Tas2r139 A G 6: 42,118,500 (GRCm39) T211A possibly damaging Het
Tbkbp1 T C 11: 97,029,770 (GRCm39) probably benign Het
Thbs3 T C 3: 89,133,738 (GRCm39) Y897H probably damaging Het
Timm50 G T 7: 28,009,469 (GRCm39) probably benign Het
Tmem132a T C 19: 10,844,298 (GRCm39) Q100R possibly damaging Het
Ugt1a1 CAGAGAGAGAGAGA CAGAGAGAGAGA 1: 88,139,706 (GRCm39) probably benign Het
Unc93b1 C A 19: 3,985,871 (GRCm39) T90K probably benign Het
Upk3bl T C 5: 136,086,099 (GRCm39) probably benign Het
Vmn2r112 T A 17: 22,821,860 (GRCm39) H179Q probably benign Het
Vmn2r57 A T 7: 41,049,919 (GRCm39) F610Y probably damaging Het
Vmn2r80 T G 10: 79,030,532 (GRCm39) L786R probably damaging Het
Zc3h14 A G 12: 98,726,083 (GRCm39) T323A probably benign Het
Zfp532 T C 18: 65,758,137 (GRCm39) I690T possibly damaging Het
Zfp729b T C 13: 67,744,791 (GRCm39) N47S 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
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'- CTGCATGCATCTTTTACAGTTTCAG -3'
(R):5'- GTTAGTGATTTGCCCAGCCC -3'

Sequencing Primer
(F):5'- GCAGCAATTAAAGGCTCTTGC -3'
(R):5'- CCTTCCTGGGCGTATGTATAGC -3'
Posted On 2016-04-27