Incidental Mutation 'IGL02214:Ibtk'
| ID |
284809 |
| 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 # |
IGL02214
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
85569413-85631387 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 85596232 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139424
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039213]
[ENSMUST00000187521]
|
| AlphaFold |
Q6ZPR6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039213
|
| SMART Domains |
Protein: ENSMUSP00000041145
Gene: ENSMUSG00000035941
| 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: ENSMUST00000186322
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187521
|
| SMART Domains |
Protein: ENSMUSP00000139424
Gene: ENSMUSG00000035941
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188768
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9430097D07Rik |
T |
C |
2: 32,464,736 (GRCm39) |
|
probably benign |
Het |
| A330008L17Rik |
T |
A |
8: 100,148,390 (GRCm39) |
|
noncoding transcript |
Het |
| A930004D18Rik |
A |
G |
2: 18,032,067 (GRCm39) |
L17P |
unknown |
Het |
| Abca14 |
A |
T |
7: 119,893,398 (GRCm39) |
M1283L |
probably benign |
Het |
| Adarb1 |
A |
T |
10: 77,158,135 (GRCm39) |
V104E |
probably damaging |
Het |
| Ano1 |
T |
A |
7: 144,209,445 (GRCm39) |
N252Y |
possibly damaging |
Het |
| Atp6v0a1 |
A |
G |
11: 100,930,666 (GRCm39) |
S498G |
probably benign |
Het |
| Bdp1 |
A |
G |
13: 100,178,043 (GRCm39) |
V1942A |
probably benign |
Het |
| Carf |
T |
A |
1: 60,187,240 (GRCm39) |
D579E |
probably damaging |
Het |
| Cltc |
A |
T |
11: 86,623,412 (GRCm39) |
S200R |
probably benign |
Het |
| Cpeb1 |
T |
C |
7: 81,021,805 (GRCm39) |
S113G |
possibly damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Ehd3 |
T |
A |
17: 74,127,541 (GRCm39) |
L158H |
probably damaging |
Het |
| Etfa |
C |
A |
9: 55,372,095 (GRCm39) |
G289W |
probably damaging |
Het |
| Fndc3c1 |
G |
A |
X: 105,469,435 (GRCm39) |
T1029I |
probably benign |
Het |
| Gipr |
C |
A |
7: 18,891,471 (GRCm39) |
G402V |
possibly damaging |
Het |
| Hacd1 |
C |
T |
2: 14,031,758 (GRCm39) |
V242M |
probably damaging |
Het |
| Hecw1 |
A |
G |
13: 14,474,978 (GRCm39) |
L520P |
probably damaging |
Het |
| Igkv16-104 |
A |
C |
6: 68,402,778 (GRCm39) |
I24L |
probably benign |
Het |
| Kcnh8 |
A |
T |
17: 53,184,939 (GRCm39) |
Y407F |
possibly damaging |
Het |
| Mansc1 |
C |
T |
6: 134,587,323 (GRCm39) |
V285M |
probably benign |
Het |
| Mindy4 |
A |
G |
6: 55,193,636 (GRCm39) |
R110G |
possibly damaging |
Het |
| Morn1 |
C |
T |
4: 155,176,776 (GRCm39) |
H100Y |
probably damaging |
Het |
| Naip6 |
A |
T |
13: 100,452,567 (GRCm39) |
S165T |
probably damaging |
Het |
| Or13a24 |
A |
T |
7: 140,154,470 (GRCm39) |
R135* |
probably null |
Het |
| Or5aq1 |
T |
G |
2: 86,965,849 (GRCm39) |
K272T |
probably damaging |
Het |
| Prx |
G |
T |
7: 27,218,337 (GRCm39) |
R946M |
probably damaging |
Het |
| Ptchd1 |
A |
G |
X: 154,356,706 (GRCm39) |
V833A |
possibly damaging |
Het |
| Rgl2 |
A |
G |
17: 34,154,163 (GRCm39) |
D481G |
probably benign |
Het |
| Serpinb3a |
A |
G |
1: 106,976,218 (GRCm39) |
|
probably null |
Het |
| Shtn1 |
T |
C |
19: 58,988,318 (GRCm39) |
|
probably benign |
Het |
| Slco1a7 |
T |
A |
6: 141,668,911 (GRCm39) |
D507V |
possibly damaging |
Het |
| Sult1b1 |
C |
T |
5: 87,682,949 (GRCm39) |
|
probably benign |
Het |
| Tbl3 |
T |
C |
17: 24,923,106 (GRCm39) |
|
probably benign |
Het |
| Trappc9 |
C |
T |
15: 72,884,731 (GRCm39) |
W416* |
probably null |
Het |
| Ubr4 |
T |
C |
4: 139,155,894 (GRCm39) |
Y2240H |
possibly damaging |
Het |
| Ubr4 |
G |
A |
4: 139,189,138 (GRCm39) |
|
probably null |
Het |
| Vmn2r76 |
A |
C |
7: 85,879,138 (GRCm39) |
F387L |
probably benign |
Het |
| Vps8 |
G |
A |
16: 21,336,035 (GRCm39) |
C729Y |
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 |
|
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 |
|
|
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