Incidental Mutation 'R7757:Ibtk'
| ID |
597621 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ibtk
|
| Ensembl Gene |
ENSMUSG00000035941 |
| Gene Name |
inhibitor of Bruton agammaglobulinemia tyrosine kinase |
| Synonyms |
5430411K16Rik |
| MMRRC Submission |
045813-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7757 (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 C
at 85579290 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 1202
(S1202A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041145
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039213]
[ENSMUST00000187521]
|
| AlphaFold |
Q6ZPR6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039213
AA Change: S1202A
PolyPhen 2
Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000041145
Gene: ENSMUSG00000035941
AA Change: S1202A
| 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 |
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 |
|
| Meta Mutation Damage Score |
0.0892 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
96% (70/73) |
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
A |
12: 71,236,187 (GRCm39) |
M1179I |
probably benign |
Het |
| 6430550D23Rik |
T |
C |
2: 155,845,351 (GRCm39) |
T18A |
possibly damaging |
Het |
| Acox2 |
T |
C |
14: 8,230,166 (GRCm38) |
N659S |
probably damaging |
Het |
| Agk |
T |
C |
6: 40,353,212 (GRCm39) |
V192A |
possibly damaging |
Het |
| Ap3b1 |
T |
A |
13: 94,664,666 (GRCm39) |
|
probably null |
Het |
| Bche |
T |
A |
3: 73,608,454 (GRCm39) |
D324V |
probably damaging |
Het |
| Bsn |
A |
G |
9: 107,991,939 (GRCm39) |
I1271T |
possibly damaging |
Het |
| Capn12 |
T |
C |
7: 28,582,246 (GRCm39) |
L120P |
probably damaging |
Het |
| Cep290 |
T |
A |
10: 100,399,296 (GRCm39) |
S2273T |
probably benign |
Het |
| Ckap4 |
T |
C |
10: 84,364,331 (GRCm39) |
E244G |
probably damaging |
Het |
| Clcn7 |
T |
C |
17: 25,375,796 (GRCm39) |
Y545H |
probably damaging |
Het |
| Cmya5 |
T |
A |
13: 93,234,780 (GRCm39) |
T103S |
possibly damaging |
Het |
| Cplane1 |
A |
T |
15: 8,281,711 (GRCm39) |
E2850V |
unknown |
Het |
| Cpne9 |
G |
A |
6: 113,261,406 (GRCm39) |
V121M |
possibly damaging |
Het |
| Csmd2 |
T |
A |
4: 128,377,249 (GRCm39) |
I2043N |
|
Het |
| Disc1 |
A |
G |
8: 125,814,243 (GRCm39) |
T36A |
probably benign |
Het |
| Disp2 |
T |
C |
2: 118,621,391 (GRCm39) |
Y708H |
probably damaging |
Het |
| Dnah3 |
A |
G |
7: 119,670,793 (GRCm39) |
V635A |
probably benign |
Het |
| Dnah3 |
A |
T |
7: 119,570,438 (GRCm39) |
|
probably null |
Het |
| Dync1li1 |
A |
G |
9: 114,538,345 (GRCm39) |
H234R |
possibly damaging |
Het |
| Egfr |
T |
C |
11: 16,839,966 (GRCm39) |
V660A |
possibly damaging |
Het |
| Epb42 |
T |
C |
2: 120,858,200 (GRCm39) |
R253G |
possibly damaging |
Het |
| Fat2 |
T |
A |
11: 55,202,247 (GRCm39) |
T276S |
probably benign |
Het |
| Fcho2 |
A |
G |
13: 98,901,011 (GRCm39) |
|
probably null |
Het |
| Ginm1 |
A |
T |
10: 7,655,119 (GRCm39) |
I41N |
probably damaging |
Het |
| Gm4744 |
A |
G |
6: 40,927,367 (GRCm39) |
|
probably benign |
Het |
| Gm49368 |
C |
T |
7: 127,711,398 (GRCm39) |
R701C |
probably damaging |
Het |
| Gpr37 |
T |
A |
6: 25,688,207 (GRCm39) |
I297F |
probably benign |
Het |
| Gprc5a |
T |
A |
6: 135,056,342 (GRCm39) |
I263N |
possibly damaging |
Het |
| Gys2 |
A |
T |
6: 142,400,177 (GRCm39) |
S345T |
probably benign |
Het |
| Hk2 |
T |
C |
6: 82,719,896 (GRCm39) |
M255V |
possibly damaging |
Het |
| Il23r |
T |
G |
6: 67,400,965 (GRCm39) |
D455A |
probably benign |
Het |
| Irs2 |
T |
A |
8: 11,056,522 (GRCm39) |
K637* |
probably null |
Het |
| Jak2 |
T |
C |
19: 29,260,946 (GRCm39) |
V314A |
probably benign |
Het |
| Mei1 |
C |
T |
15: 81,966,824 (GRCm39) |
|
probably benign |
Het |
| Mill1 |
T |
C |
7: 17,996,391 (GRCm39) |
M69T |
probably benign |
Het |
| Mms22l |
T |
C |
4: 24,598,884 (GRCm39) |
|
probably null |
Het |
| Mup8 |
C |
A |
4: 60,220,332 (GRCm39) |
Q133H |
probably benign |
Het |
| Mup8 |
T |
A |
4: 60,220,333 (GRCm39) |
Q133L |
probably benign |
Het |
| Mycbp2 |
A |
T |
14: 103,429,055 (GRCm39) |
Y2374N |
probably damaging |
Het |
| Nbeal1 |
A |
T |
1: 60,296,609 (GRCm39) |
K1166N |
probably damaging |
Het |
| Nlrc4 |
T |
A |
17: 74,755,191 (GRCm39) |
R8S |
probably benign |
Het |
| Nrcam |
C |
T |
12: 44,596,681 (GRCm39) |
Q25* |
probably null |
Het |
| Nudt16 |
A |
C |
9: 105,008,760 (GRCm39) |
M47R |
probably damaging |
Het |
| Nup62 |
T |
C |
7: 44,478,419 (GRCm39) |
S145P |
probably benign |
Het |
| Or10d1 |
A |
G |
9: 39,483,761 (GRCm39) |
W265R |
probably benign |
Het |
| Or4c117 |
T |
C |
2: 88,955,333 (GRCm39) |
I247M |
possibly damaging |
Het |
| Osbpl1a |
A |
T |
18: 13,066,657 (GRCm39) |
V34D |
probably benign |
Het |
| Otogl |
T |
A |
10: 107,712,782 (GRCm39) |
N521Y |
probably damaging |
Het |
| Pcdhb14 |
T |
A |
18: 37,582,887 (GRCm39) |
D664E |
possibly damaging |
Het |
| Pex5l |
T |
C |
3: 33,136,300 (GRCm39) |
|
probably benign |
Het |
| Pkhd1 |
A |
G |
1: 20,632,639 (GRCm39) |
L592P |
probably damaging |
Het |
| Plxdc2 |
A |
G |
2: 16,734,187 (GRCm39) |
H480R |
probably benign |
Het |
| Rnf216 |
T |
A |
5: 143,065,991 (GRCm39) |
K532N |
probably damaging |
Het |
| Schip1 |
C |
A |
3: 68,525,028 (GRCm39) |
Q358K |
probably damaging |
Het |
| Sdc2 |
A |
T |
15: 33,028,233 (GRCm39) |
E117V |
possibly damaging |
Het |
| Septin11 |
A |
T |
5: 93,319,323 (GRCm39) |
|
probably null |
Het |
| Shprh |
A |
T |
10: 11,037,924 (GRCm39) |
E420V |
probably benign |
Het |
| Ska1 |
T |
A |
18: 74,330,044 (GRCm39) |
H232L |
probably benign |
Het |
| Slc36a4 |
A |
G |
9: 15,630,956 (GRCm39) |
N25S |
possibly damaging |
Het |
| Slitrk3 |
G |
A |
3: 72,958,172 (GRCm39) |
T200M |
probably damaging |
Het |
| Smad2 |
C |
T |
18: 76,421,084 (GRCm39) |
H138Y |
probably benign |
Het |
| Snx21 |
T |
C |
2: 164,628,085 (GRCm39) |
S34P |
probably damaging |
Het |
| Sos2 |
A |
G |
12: 69,695,359 (GRCm39) |
V126A |
probably damaging |
Het |
| Srcap |
C |
T |
7: 127,129,966 (GRCm39) |
T596I |
probably damaging |
Het |
| Stk31 |
T |
G |
6: 49,383,877 (GRCm39) |
|
probably null |
Het |
| Stox1 |
T |
C |
10: 62,499,743 (GRCm39) |
D939G |
probably damaging |
Het |
| Syne2 |
G |
T |
12: 76,108,553 (GRCm39) |
C979F |
possibly damaging |
Het |
| Tanc2 |
C |
A |
11: 105,667,684 (GRCm39) |
N88K |
possibly damaging |
Het |
| Tll2 |
A |
T |
19: 41,084,447 (GRCm39) |
V677E |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,748,834 (GRCm39) |
T4072A |
probably benign |
Het |
| Unc13b |
CAGAGC |
CAGAGCGAGAGC |
4: 43,177,341 (GRCm39) |
|
probably benign |
Het |
| Unc13b |
CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC |
CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC |
4: 43,177,312 (GRCm39) |
|
probably benign |
Het |
| Unc13b |
AGAGCC |
AGAGCCCGAGCC |
4: 43,177,330 (GRCm39) |
|
probably benign |
Het |
| Vmn2r43 |
A |
T |
7: 8,258,253 (GRCm39) |
F320Y |
possibly damaging |
Het |
| Zscan4f |
G |
T |
7: 11,135,205 (GRCm39) |
G204* |
probably null |
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 |
|
|
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'- TGAACTGTGGCTTCAATACACC -3'
(R):5'- TCCTGTTCAGCCATGCATAC -3'
Sequencing Primer
(F):5'- AAGGAAATGGACTTGCTAGCTTTTG -3'
(R):5'- GCCATGCATACTGAAACTCTATTGG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation