Incidental Mutation 'R9140:Ibtk'
ID |
694297 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ibtk
|
Ensembl Gene |
ENSMUSG00000035941 |
Gene Name |
inhibitor of Bruton agammaglobulinemia tyrosine kinase |
Synonyms |
5430411K16Rik |
MMRRC Submission |
068972-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9140 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
85569413-85631387 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 85617114 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 153
(F153L)
|
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: F153L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000041145 Gene: ENSMUSG00000035941 AA Change: F153L
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 |
possibly damaging
Transcript: ENSMUST00000187521
AA Change: F153L
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000139424 Gene: ENSMUSG00000035941 AA Change: F153L
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (69/69) |
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actl9 |
A |
T |
17: 33,652,170 (GRCm39) |
I77F |
possibly damaging |
Het |
Adgb |
G |
A |
10: 10,216,263 (GRCm39) |
R1509* |
probably null |
Het |
Ago1 |
C |
A |
4: 126,336,977 (GRCm39) |
V547L |
probably benign |
Het |
Arhgap21 |
T |
A |
2: 20,886,025 (GRCm39) |
Y394F |
probably damaging |
Het |
C1qa |
A |
C |
4: 136,623,553 (GRCm39) |
I217S |
probably damaging |
Het |
Cacna1b |
T |
A |
2: 24,525,224 (GRCm39) |
I1651F |
probably damaging |
Het |
Car8 |
T |
C |
4: 8,183,270 (GRCm39) |
T242A |
probably benign |
Het |
Ccdc121rt3 |
A |
T |
5: 112,502,723 (GRCm39) |
L327Q |
probably damaging |
Het |
Ccn4 |
G |
A |
15: 66,791,157 (GRCm39) |
V320M |
probably damaging |
Het |
Chrnb4 |
G |
A |
9: 54,941,955 (GRCm39) |
H440Y |
|
Het |
Cic |
T |
C |
7: 24,985,165 (GRCm39) |
V1137A |
probably damaging |
Het |
Ctdp1 |
C |
T |
18: 80,484,043 (GRCm39) |
|
probably null |
Het |
Cyp3a16 |
G |
C |
5: 145,406,434 (GRCm39) |
A6G |
unknown |
Het |
Ddhd1 |
A |
C |
14: 45,894,918 (GRCm39) |
L184R |
probably benign |
Het |
Dnttip1 |
A |
G |
2: 164,596,082 (GRCm39) |
D109G |
possibly damaging |
Het |
Dsc3 |
T |
A |
18: 20,122,616 (GRCm39) |
M103L |
probably benign |
Het |
Dusp9 |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
X: 72,684,217 (GRCm39) |
|
probably benign |
Het |
Elapor2 |
T |
C |
5: 9,449,226 (GRCm39) |
V118A |
probably benign |
Het |
Eya2 |
T |
C |
2: 165,608,977 (GRCm39) |
L439S |
probably damaging |
Het |
Eya3 |
A |
G |
4: 132,428,411 (GRCm39) |
N311S |
possibly damaging |
Het |
Fam151a |
C |
T |
4: 106,605,344 (GRCm39) |
R569* |
probably null |
Het |
Fer1l5 |
A |
G |
1: 36,460,047 (GRCm39) |
|
probably benign |
Het |
Fnbp4 |
A |
G |
2: 90,576,077 (GRCm39) |
T93A |
unknown |
Het |
Fosl2 |
T |
C |
5: 32,310,042 (GRCm39) |
S164P |
probably damaging |
Het |
Galc |
T |
C |
12: 98,173,673 (GRCm39) |
T630A |
probably null |
Het |
Gm5916 |
G |
T |
9: 36,031,982 (GRCm39) |
Q101K |
unknown |
Het |
Gm7138 |
A |
T |
10: 77,612,682 (GRCm39) |
|
probably benign |
Het |
Habp2 |
A |
G |
19: 56,307,934 (GRCm39) |
K474R |
probably benign |
Het |
Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
Jup |
C |
T |
11: 100,270,391 (GRCm39) |
C372Y |
probably damaging |
Het |
Kirrel3 |
C |
T |
9: 34,924,596 (GRCm39) |
A268V |
probably benign |
Het |
Kprp |
G |
T |
3: 92,732,458 (GRCm39) |
Y197* |
probably null |
Het |
Kri1 |
C |
T |
9: 21,187,434 (GRCm39) |
R471H |
|
Het |
Krt17 |
C |
A |
11: 100,148,476 (GRCm39) |
A322S |
possibly damaging |
Het |
Leng9 |
A |
T |
7: 4,152,657 (GRCm39) |
D6E |
probably benign |
Het |
Macf1 |
A |
T |
4: 123,367,855 (GRCm39) |
I2302K |
possibly damaging |
Het |
Manba |
G |
A |
3: 135,191,490 (GRCm39) |
V17M |
probably benign |
Het |
Mical2 |
A |
G |
7: 112,006,826 (GRCm39) |
K582E |
probably damaging |
Het |
Mknk2 |
A |
G |
10: 80,507,427 (GRCm39) |
V102A |
probably benign |
Het |
Myh1 |
G |
A |
11: 67,100,089 (GRCm39) |
G636D |
probably benign |
Het |
Or51q1c |
A |
G |
7: 103,653,322 (GRCm39) |
N280S |
probably damaging |
Het |
P2rx7 |
G |
A |
5: 122,790,789 (GRCm39) |
|
probably null |
Het |
Pcmt1 |
A |
G |
10: 7,514,678 (GRCm39) |
*177R |
probably null |
Het |
Pla2r1 |
T |
C |
2: 60,271,455 (GRCm39) |
K959R |
probably benign |
Het |
Plat |
A |
G |
8: 23,270,562 (GRCm39) |
D493G |
probably damaging |
Het |
Prr30 |
A |
G |
14: 101,436,430 (GRCm39) |
L44P |
probably benign |
Het |
Ptx4 |
T |
C |
17: 25,344,180 (GRCm39) |
C477R |
probably damaging |
Het |
Pus10 |
A |
G |
11: 23,622,625 (GRCm39) |
S82G |
probably benign |
Het |
Pygo1 |
A |
G |
9: 72,852,988 (GRCm39) |
T392A |
probably benign |
Het |
Rad54b |
C |
A |
4: 11,610,386 (GRCm39) |
L668I |
probably damaging |
Het |
Rdh19 |
A |
C |
10: 127,692,830 (GRCm39) |
M166L |
|
Het |
Retnlg |
C |
A |
16: 48,693,288 (GRCm39) |
Q22K |
possibly damaging |
Het |
Rfc3 |
G |
T |
5: 151,568,141 (GRCm39) |
T249K |
probably benign |
Het |
Rgs16 |
T |
A |
1: 153,619,381 (GRCm39) |
V129E |
probably damaging |
Het |
Rptn |
T |
A |
3: 93,303,445 (GRCm39) |
Y259* |
probably null |
Het |
Sema6a |
T |
C |
18: 47,415,009 (GRCm39) |
N427S |
probably benign |
Het |
Slc7a13 |
T |
C |
4: 19,819,487 (GRCm39) |
I229T |
possibly damaging |
Het |
Slitrk3 |
A |
T |
3: 72,957,792 (GRCm39) |
Y327N |
probably benign |
Het |
Smtnl2 |
A |
G |
11: 72,290,793 (GRCm39) |
L384P |
probably damaging |
Het |
Stil |
G |
T |
4: 114,864,449 (GRCm39) |
V117F |
probably damaging |
Het |
Tada1 |
T |
C |
1: 166,216,177 (GRCm39) |
V126A |
probably benign |
Het |
Tasor2 |
G |
A |
13: 3,638,441 (GRCm39) |
T430I |
probably benign |
Het |
Tmem30c |
T |
C |
16: 57,090,482 (GRCm39) |
I242V |
probably damaging |
Het |
Tnnt2 |
T |
A |
1: 135,768,635 (GRCm39) |
V8E |
|
Het |
Ttn |
A |
G |
2: 76,774,240 (GRCm39) |
V2268A |
unknown |
Het |
Uspl1 |
G |
T |
5: 149,150,290 (GRCm39) |
A497S |
possibly damaging |
Het |
Vmn2r1 |
A |
T |
3: 63,997,465 (GRCm39) |
N374Y |
probably benign |
Het |
Vmn2r27 |
A |
G |
6: 124,169,207 (GRCm39) |
F641S |
probably damaging |
Het |
Vmn2r52 |
T |
A |
7: 9,892,643 (GRCm39) |
Y832F |
probably damaging |
Het |
Zfp748 |
C |
T |
13: 67,689,073 (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 |
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 |
|
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'- GACCTTCAAAAGAGTAAAACTGTGC -3'
(R):5'- CAGAGTCAGGCTTTAACTGGG -3'
Sequencing Primer
(F):5'- AAGAGTAAAACTGTGCAAGATCC -3'
(R):5'- ACTACAATTGCTCTAAATATGGGAAC -3'
|
Posted On |
2022-01-20 |