Incidental Mutation 'IGL02125:Ibtk'
| ID |
280820 |
| 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 # |
IGL02125
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
85569413-85631387 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 85617123 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 150
(N150D)
|
| 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: N150D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000041145
Gene: ENSMUSG00000035941
AA Change: N150D
| 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: N150D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139424
Gene: ENSMUSG00000035941
AA Change: N150D
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam29 |
A |
T |
8: 56,324,974 (GRCm39) |
C493* |
probably null |
Het |
| Aldh16a1 |
G |
A |
7: 44,795,459 (GRCm39) |
P400L |
probably damaging |
Het |
| Ankrd12 |
A |
G |
17: 66,277,139 (GRCm39) |
|
probably benign |
Het |
| Anxa5 |
G |
A |
3: 36,506,413 (GRCm39) |
T213I |
probably damaging |
Het |
| Baz2b |
A |
G |
2: 59,798,984 (GRCm39) |
L380S |
probably benign |
Het |
| Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
| Cacna2d2 |
C |
T |
9: 107,391,103 (GRCm39) |
Q411* |
probably null |
Het |
| Cdh19 |
A |
G |
1: 110,857,614 (GRCm39) |
V240A |
possibly damaging |
Het |
| Cltc |
A |
T |
11: 86,595,636 (GRCm39) |
|
probably benign |
Het |
| Dclk3 |
T |
A |
9: 111,298,175 (GRCm39) |
V573E |
probably damaging |
Het |
| Dhx29 |
T |
C |
13: 113,091,834 (GRCm39) |
|
probably benign |
Het |
| Dip2b |
T |
C |
15: 100,084,131 (GRCm39) |
L918P |
possibly damaging |
Het |
| Dzip3 |
A |
T |
16: 48,747,959 (GRCm39) |
N1150K |
probably damaging |
Het |
| Fgf5 |
T |
C |
5: 98,402,391 (GRCm39) |
S41P |
possibly damaging |
Het |
| Galc |
A |
T |
12: 98,197,768 (GRCm39) |
Y120N |
probably damaging |
Het |
| Gldc |
T |
C |
19: 30,124,641 (GRCm39) |
N219S |
probably benign |
Het |
| Gm11563 |
A |
T |
11: 99,549,631 (GRCm39) |
V41E |
unknown |
Het |
| Gpatch11 |
T |
A |
17: 79,147,538 (GRCm39) |
N106K |
probably benign |
Het |
| Gpx3 |
A |
G |
11: 54,798,068 (GRCm39) |
N68S |
probably damaging |
Het |
| Iglc2 |
G |
A |
16: 19,017,462 (GRCm39) |
P48S |
probably benign |
Het |
| Itih5 |
G |
A |
2: 10,245,798 (GRCm39) |
R629H |
probably benign |
Het |
| Kank1 |
T |
A |
19: 25,388,067 (GRCm39) |
V552E |
possibly damaging |
Het |
| Kmt2a |
T |
A |
9: 44,759,983 (GRCm39) |
H655L |
probably damaging |
Het |
| Mme |
A |
T |
3: 63,256,070 (GRCm39) |
N510I |
probably damaging |
Het |
| Mrtfb |
A |
G |
16: 13,218,047 (GRCm39) |
|
probably null |
Het |
| Obscn |
G |
T |
11: 58,984,152 (GRCm39) |
Q1768K |
possibly damaging |
Het |
| Obscn |
A |
G |
11: 58,913,188 (GRCm39) |
I6943T |
probably damaging |
Het |
| Or51k2 |
T |
A |
7: 103,596,279 (GRCm39) |
C169S |
probably damaging |
Het |
| Or5ac25 |
T |
C |
16: 59,181,879 (GRCm39) |
N234S |
probably benign |
Het |
| Otud3 |
A |
T |
4: 138,624,025 (GRCm39) |
|
probably null |
Het |
| Parp4 |
A |
G |
14: 56,827,959 (GRCm39) |
K237E |
probably benign |
Het |
| Pfkfb4 |
C |
T |
9: 108,854,178 (GRCm39) |
R351W |
probably damaging |
Het |
| Pttg1ip2 |
T |
C |
5: 5,500,644 (GRCm39) |
*151W |
probably null |
Het |
| Rbbp6 |
T |
C |
7: 122,570,352 (GRCm39) |
|
probably null |
Het |
| Rdh16 |
G |
T |
10: 127,647,188 (GRCm39) |
|
probably benign |
Het |
| Ropn1 |
A |
G |
16: 34,487,147 (GRCm39) |
T28A |
probably benign |
Het |
| Sec24d |
T |
C |
3: 123,152,607 (GRCm39) |
V873A |
probably damaging |
Het |
| Serpinb3b |
T |
A |
1: 107,082,474 (GRCm39) |
L263F |
probably damaging |
Het |
| Shq1 |
T |
C |
6: 100,607,967 (GRCm39) |
T315A |
probably benign |
Het |
| Slc13a4 |
T |
C |
6: 35,255,223 (GRCm39) |
E355G |
probably benign |
Het |
| Slc26a9 |
T |
C |
1: 131,687,175 (GRCm39) |
S445P |
probably damaging |
Het |
| Slc39a10 |
G |
A |
1: 46,857,288 (GRCm39) |
A696V |
probably damaging |
Het |
| Slc4a10 |
A |
T |
2: 62,098,515 (GRCm39) |
M550L |
probably benign |
Het |
| Spata31e5 |
T |
C |
1: 28,815,419 (GRCm39) |
N871S |
possibly damaging |
Het |
| Syt17 |
T |
C |
7: 118,009,197 (GRCm39) |
D341G |
probably benign |
Het |
| Tmem62 |
A |
G |
2: 120,826,993 (GRCm39) |
Y430C |
probably benign |
Het |
| Upp1 |
A |
G |
11: 9,075,650 (GRCm39) |
|
probably benign |
Het |
| Vmn1r91 |
T |
G |
7: 19,835,429 (GRCm39) |
V116G |
probably damaging |
Het |
| Vmn2r101 |
A |
T |
17: 19,809,963 (GRCm39) |
I250F |
possibly damaging |
Het |
| Vmn2r116 |
T |
G |
17: 23,616,601 (GRCm39) |
|
probably benign |
Het |
| Vmn2r72 |
C |
T |
7: 85,399,919 (GRCm39) |
V377I |
probably benign |
Het |
| Zfp592 |
G |
T |
7: 80,687,932 (GRCm39) |
A953S |
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 |
|
|
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 |
|
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