Incidental Mutation 'R0932:Ibtk'
| ID |
80982 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ibtk
|
| Ensembl Gene |
ENSMUSG00000035941 |
| Gene Name |
inhibitor of Bruton agammaglobulinemia tyrosine kinase |
| Synonyms |
5430411K16Rik |
| MMRRC Submission |
039076-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0932 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
85569413-85631387 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 85617099 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 158
(G158R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139424
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039213]
[ENSMUST00000187521]
|
| AlphaFold |
Q6ZPR6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039213
AA Change: G158R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000041145
Gene: ENSMUSG00000035941
AA Change: G158R
| 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: G158R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139424
Gene: ENSMUSG00000035941
AA Change: G158R
| 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 |
|
| Meta Mutation Damage Score |
0.4409 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.1%
- 10x: 98.2%
- 20x: 97.1%
|
| Validation Efficiency |
100% (42/42) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932438H23Rik |
T |
C |
16: 90,852,995 (GRCm39) |
N47S |
probably benign |
Het |
| AA986860 |
T |
C |
1: 130,665,430 (GRCm39) |
|
probably null |
Het |
| Akap9 |
T |
A |
5: 4,096,492 (GRCm39) |
C2456S |
possibly damaging |
Het |
| Anks3 |
C |
T |
16: 4,771,691 (GRCm39) |
R111H |
probably damaging |
Het |
| Atp1a3 |
A |
T |
7: 24,687,401 (GRCm39) |
|
probably null |
Het |
| Bahd1 |
T |
C |
2: 118,746,408 (GRCm39) |
L9P |
probably damaging |
Het |
| Capn12 |
T |
C |
7: 28,587,123 (GRCm39) |
V364A |
possibly damaging |
Het |
| Cds1 |
T |
A |
5: 101,944,891 (GRCm39) |
C122S |
probably damaging |
Het |
| Cenpc1 |
T |
C |
5: 86,185,459 (GRCm39) |
T351A |
possibly damaging |
Het |
| Cuzd1 |
T |
C |
7: 130,921,923 (GRCm39) |
|
probably benign |
Het |
| Daxx |
T |
C |
17: 34,129,635 (GRCm39) |
L72P |
probably damaging |
Het |
| Depdc1b |
A |
G |
13: 108,523,369 (GRCm39) |
I415V |
probably benign |
Het |
| Dlg2 |
T |
C |
7: 92,024,845 (GRCm39) |
V675A |
probably damaging |
Het |
| Dtx4 |
A |
G |
19: 12,469,515 (GRCm39) |
V204A |
probably benign |
Het |
| Ganc |
T |
C |
2: 120,288,610 (GRCm39) |
V872A |
probably damaging |
Het |
| Gm14403 |
A |
T |
2: 177,198,810 (GRCm39) |
R38W |
probably benign |
Het |
| Gm4553 |
T |
C |
7: 141,719,423 (GRCm39) |
S2G |
unknown |
Het |
| Gm8159 |
G |
A |
14: 4,635,226 (GRCm38) |
R148H |
possibly damaging |
Het |
| Gsdmc3 |
T |
C |
15: 63,730,400 (GRCm39) |
|
probably null |
Het |
| Irx2 |
T |
A |
13: 72,779,675 (GRCm39) |
S320T |
possibly damaging |
Het |
| Kctd7 |
A |
T |
5: 130,180,510 (GRCm39) |
|
probably null |
Het |
| Kdr |
T |
C |
5: 76,129,465 (GRCm39) |
T141A |
probably benign |
Het |
| Krt25 |
T |
A |
11: 99,212,109 (GRCm39) |
Q176L |
possibly damaging |
Het |
| Krt71 |
T |
C |
15: 101,645,195 (GRCm39) |
N372S |
probably benign |
Het |
| Mllt3 |
A |
G |
4: 87,707,621 (GRCm39) |
V446A |
probably damaging |
Het |
| Or1j21 |
T |
A |
2: 36,683,903 (GRCm39) |
Y218* |
probably null |
Het |
| Or4k38 |
A |
T |
2: 111,165,543 (GRCm39) |
D293E |
probably benign |
Het |
| Or5p4 |
C |
T |
7: 107,680,727 (GRCm39) |
T242M |
probably damaging |
Het |
| Or5p52 |
A |
C |
7: 107,502,397 (GRCm39) |
T158P |
possibly damaging |
Het |
| Or9e1 |
T |
C |
11: 58,732,540 (GRCm39) |
V200A |
possibly damaging |
Het |
| Poldip2 |
T |
C |
11: 78,403,294 (GRCm39) |
S18P |
possibly damaging |
Het |
| Ptprd |
T |
G |
4: 76,055,122 (GRCm39) |
Q193P |
probably damaging |
Het |
| Reck |
C |
T |
4: 43,922,838 (GRCm39) |
T371M |
possibly damaging |
Het |
| Rnf144b |
G |
T |
13: 47,374,001 (GRCm39) |
R66L |
probably null |
Het |
| Rpn2 |
T |
A |
2: 157,125,691 (GRCm39) |
D67E |
possibly damaging |
Het |
| Scn11a |
A |
G |
9: 119,636,876 (GRCm39) |
F275S |
probably damaging |
Het |
| Slc12a5 |
G |
A |
2: 164,838,805 (GRCm39) |
|
probably benign |
Het |
| Snapc4 |
A |
G |
2: 26,264,658 (GRCm39) |
I253T |
probably damaging |
Het |
| Tppp2 |
C |
T |
14: 52,157,881 (GRCm39) |
|
probably benign |
Het |
| Usp9y |
A |
C |
Y: 1,315,930 (GRCm39) |
N2068K |
probably benign |
Het |
| Vmn2r45 |
A |
G |
7: 8,478,380 (GRCm39) |
C536R |
probably damaging |
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 |
|
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 |
|
|
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'- AGCTCCACAGGTTACCGCTCAAAG -3'
(R):5'- TGATTGCTCACATCAGAGTCAGGC -3'
Sequencing Primer
(F):5'- TTCAGGATATCAGGACCATGC -3'
(R):5'- CACATCAGAGTCAGGCTTTAACTG -3'
|
| Posted On |
2013-11-07 |
Incidental Mutation