Incidental Mutation 'IGL02741:Ibtk'
| ID |
305896 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ibtk
|
| Ensembl Gene |
ENSMUSG00000035941 |
| Gene Name |
inhibitor of Bruton agammaglobulinemia tyrosine kinase |
| Synonyms |
5430411K16Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02741
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
85569413-85631387 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 85608665 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 416
(R416G)
|
| 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: R416G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000041145
Gene: ENSMUSG00000035941
AA Change: R416G
| Domain | Start | End | E-Value | Type |
|---|
|
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: ENSMUST00000185353
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186447
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000187521
AA Change: R416G
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000139424
Gene: ENSMUSG00000035941
AA Change: R416G
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930004D18Rik |
T |
C |
2: 18,032,007 (GRCm39) |
Y37C |
unknown |
Het |
| Arhgap20 |
T |
A |
9: 51,759,945 (GRCm39) |
C599S |
probably benign |
Het |
| Bcl6b |
C |
A |
11: 70,119,942 (GRCm39) |
R15L |
probably damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Dchs1 |
C |
T |
7: 105,406,530 (GRCm39) |
D2262N |
probably damaging |
Het |
| Dsg4 |
A |
G |
18: 20,604,553 (GRCm39) |
M1007V |
probably benign |
Het |
| Fgd6 |
A |
G |
10: 93,959,152 (GRCm39) |
K1032R |
possibly damaging |
Het |
| Fras1 |
T |
A |
5: 96,839,230 (GRCm39) |
M1583K |
probably benign |
Het |
| Gjc3 |
A |
T |
5: 137,955,726 (GRCm39) |
C186* |
probably null |
Het |
| Gm14496 |
A |
G |
2: 181,633,136 (GRCm39) |
R40G |
probably benign |
Het |
| Kcnc4 |
A |
G |
3: 107,355,294 (GRCm39) |
F385L |
probably damaging |
Het |
| Mapk8ip2 |
T |
C |
15: 89,341,700 (GRCm39) |
S304P |
probably damaging |
Het |
| Mbd6 |
A |
G |
10: 127,123,263 (GRCm39) |
|
probably null |
Het |
| Mroh2b |
T |
C |
15: 4,935,114 (GRCm39) |
F183S |
probably benign |
Het |
| Nrg1 |
T |
A |
8: 32,312,316 (GRCm39) |
T334S |
probably damaging |
Het |
| Pigw |
C |
T |
11: 84,769,192 (GRCm39) |
V46I |
probably benign |
Het |
| Pkdrej |
T |
C |
15: 85,701,631 (GRCm39) |
E1435G |
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,290,253 (GRCm39) |
|
probably benign |
Het |
| Prkdc |
A |
T |
16: 15,570,590 (GRCm39) |
|
probably benign |
Het |
| Ptprd |
A |
T |
4: 76,051,521 (GRCm39) |
I247N |
probably damaging |
Het |
| Rfx1 |
A |
G |
8: 84,822,471 (GRCm39) |
Q923R |
possibly damaging |
Het |
| Rgs11 |
G |
A |
17: 26,426,605 (GRCm39) |
V279I |
probably benign |
Het |
| Rps6ka2 |
T |
A |
17: 7,563,415 (GRCm39) |
F608I |
probably benign |
Het |
| Slc13a1 |
A |
T |
6: 24,150,707 (GRCm39) |
|
probably null |
Het |
| Slc6a20b |
C |
T |
9: 123,436,667 (GRCm39) |
V249M |
probably damaging |
Het |
| Slc9c1 |
A |
G |
16: 45,401,961 (GRCm39) |
I783V |
possibly damaging |
Het |
| Swap70 |
G |
T |
7: 109,873,856 (GRCm39) |
M401I |
probably benign |
Het |
| Tmco4 |
A |
T |
4: 138,757,188 (GRCm39) |
I407F |
probably damaging |
Het |
| Trpm4 |
T |
A |
7: 44,967,912 (GRCm39) |
S340C |
possibly damaging |
Het |
| Tsc2 |
T |
C |
17: 24,848,943 (GRCm39) |
E79G |
probably damaging |
Het |
| Ubr1 |
A |
C |
2: 120,771,572 (GRCm39) |
S439A |
probably benign |
Het |
| Vmn1r73 |
T |
C |
7: 11,490,710 (GRCm39) |
V176A |
probably benign |
Het |
| Vmn2r17 |
G |
A |
5: 109,568,077 (GRCm39) |
D67N |
probably benign |
Het |
| Wasf1 |
C |
T |
10: 40,806,705 (GRCm39) |
T116M |
probably damaging |
Het |
| Zkscan3 |
A |
T |
13: 21,578,164 (GRCm39) |
M241K |
probably benign |
Het |
|
| Other mutations in Ibtk |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation