Incidental Mutation 'R0569:Ibtk'
| ID |
46312 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ibtk
|
| Ensembl Gene |
ENSMUSG00000035941 |
| Gene Name |
inhibitor of Bruton agammaglobulinemia tyrosine kinase |
| Synonyms |
5430411K16Rik |
| MMRRC Submission |
038760-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0569 (G1)
|
| Quality Score |
210 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
85569413-85631387 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 85590234 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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.8%
|
| Validation Efficiency |
97% (56/58) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
A |
G |
13: 119,621,016 (GRCm39) |
I572M |
possibly damaging |
Het |
| 4930447A16Rik |
T |
C |
15: 37,425,863 (GRCm39) |
M1T |
probably null |
Het |
| 4930590J08Rik |
C |
A |
6: 91,919,559 (GRCm39) |
C739* |
probably null |
Het |
| Adcy1 |
T |
A |
11: 7,096,514 (GRCm39) |
V634E |
probably benign |
Het |
| Ankfy1 |
T |
A |
11: 72,644,434 (GRCm39) |
H710Q |
possibly damaging |
Het |
| Ankrd60 |
C |
T |
2: 173,412,859 (GRCm39) |
V90M |
probably damaging |
Het |
| Asgr2 |
A |
T |
11: 69,988,703 (GRCm39) |
Q132L |
probably benign |
Het |
| Cchcr1 |
T |
A |
17: 35,839,865 (GRCm39) |
|
probably null |
Het |
| Ces1h |
T |
C |
8: 94,078,774 (GRCm39) |
K523E |
unknown |
Het |
| Clec3a |
G |
T |
8: 115,152,476 (GRCm39) |
G161C |
probably damaging |
Het |
| Cracr2b |
G |
A |
7: 141,044,848 (GRCm39) |
|
probably benign |
Het |
| Cyp2b10 |
A |
T |
7: 25,597,160 (GRCm39) |
L17F |
probably damaging |
Het |
| Dhx29 |
T |
A |
13: 113,084,748 (GRCm39) |
N655K |
probably benign |
Het |
| Dst |
C |
A |
1: 34,332,508 (GRCm39) |
L4748I |
probably damaging |
Het |
| Eif2b5 |
G |
C |
16: 20,321,303 (GRCm39) |
L285F |
probably benign |
Het |
| Enox1 |
T |
A |
14: 77,875,117 (GRCm39) |
D441E |
probably damaging |
Het |
| Fam110a |
T |
C |
2: 151,812,404 (GRCm39) |
E122G |
probably damaging |
Het |
| Fam161b |
T |
A |
12: 84,395,413 (GRCm39) |
E510V |
probably damaging |
Het |
| Gabrd |
T |
C |
4: 155,469,880 (GRCm39) |
Y443C |
probably damaging |
Het |
| Gcn1 |
T |
G |
5: 115,733,118 (GRCm39) |
S1052A |
probably benign |
Het |
| Gnptab |
A |
G |
10: 88,264,419 (GRCm39) |
E279G |
possibly damaging |
Het |
| Hoxa6 |
T |
A |
6: 52,185,163 (GRCm39) |
|
probably null |
Het |
| Il6ra |
A |
T |
3: 89,785,149 (GRCm39) |
|
probably null |
Het |
| Iqgap3 |
C |
T |
3: 87,998,032 (GRCm39) |
|
probably benign |
Het |
| Kcnk2 |
A |
C |
1: 189,071,998 (GRCm39) |
L110R |
probably damaging |
Het |
| Knl1 |
T |
A |
2: 118,927,916 (GRCm39) |
V1919D |
possibly damaging |
Het |
| Lrp1b |
A |
T |
2: 40,779,251 (GRCm39) |
L2597Q |
probably benign |
Het |
| Magi3 |
A |
G |
3: 103,923,358 (GRCm39) |
S1120P |
probably benign |
Het |
| Map3k8 |
T |
C |
18: 4,349,162 (GRCm39) |
D52G |
probably benign |
Het |
| Mcat |
C |
T |
15: 83,433,449 (GRCm39) |
R198H |
probably benign |
Het |
| Mnd1 |
A |
G |
3: 84,012,286 (GRCm39) |
V141A |
probably benign |
Het |
| Morc1 |
T |
C |
16: 48,407,485 (GRCm39) |
L667P |
probably benign |
Het |
| Mrps6 |
A |
G |
16: 91,908,808 (GRCm39) |
K125E |
possibly damaging |
Het |
| Mst1 |
T |
C |
9: 107,959,500 (GRCm39) |
F262S |
probably damaging |
Het |
| Or5j3 |
T |
G |
2: 86,128,941 (GRCm39) |
I260M |
probably damaging |
Het |
| Or7e178 |
T |
A |
9: 20,225,875 (GRCm39) |
I114F |
probably damaging |
Het |
| Pbsn |
C |
G |
X: 76,897,046 (GRCm39) |
G15A |
possibly damaging |
Het |
| Pcnx1 |
T |
C |
12: 82,038,804 (GRCm39) |
I2023T |
probably benign |
Het |
| Pds5a |
T |
G |
5: 65,813,744 (GRCm39) |
N247T |
probably damaging |
Het |
| Peak1 |
T |
C |
9: 56,167,373 (GRCm39) |
Y185C |
probably damaging |
Het |
| Phkb |
T |
A |
8: 86,744,031 (GRCm39) |
I560N |
probably damaging |
Het |
| Plekhn1 |
T |
C |
4: 156,309,658 (GRCm39) |
I160V |
probably damaging |
Het |
| Rabgap1 |
T |
G |
2: 37,379,729 (GRCm39) |
|
probably benign |
Het |
| Rdh10 |
T |
G |
1: 16,199,517 (GRCm39) |
V241G |
probably damaging |
Het |
| Selenow |
A |
T |
7: 15,654,042 (GRCm39) |
C37S |
probably benign |
Het |
| Sema6a |
A |
T |
18: 47,403,872 (GRCm39) |
|
probably null |
Het |
| Slc12a3 |
T |
C |
8: 95,057,153 (GRCm39) |
|
probably null |
Het |
| Slc22a21 |
T |
G |
11: 53,842,636 (GRCm39) |
M498L |
probably benign |
Het |
| Spink5 |
A |
T |
18: 44,122,486 (GRCm39) |
N317I |
probably damaging |
Het |
| Srek1 |
A |
G |
13: 103,885,370 (GRCm39) |
|
probably benign |
Het |
| Syt11 |
A |
G |
3: 88,655,230 (GRCm39) |
V357A |
probably benign |
Het |
| Tcof1 |
T |
A |
18: 60,962,107 (GRCm39) |
K707N |
possibly damaging |
Het |
| Tfip11 |
C |
T |
5: 112,475,960 (GRCm39) |
R42C |
probably damaging |
Het |
| Trim39 |
T |
C |
17: 36,574,623 (GRCm39) |
K260E |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,553,663 (GRCm39) |
T22658A |
possibly damaging |
Het |
| Unc45b |
C |
T |
11: 82,827,638 (GRCm39) |
|
probably benign |
Het |
| Vmn1r236 |
A |
G |
17: 21,507,172 (GRCm39) |
I97V |
probably benign |
Het |
| Vps13c |
T |
C |
9: 67,881,001 (GRCm39) |
V657A |
probably damaging |
Het |
| Zkscan2 |
A |
G |
7: 123,097,898 (GRCm39) |
V166A |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCGAATGGAATCCTGCTGTGAAGTC -3'
(R):5'- TGTTGGTATGAAGCCCGTCACCTC -3'
Sequencing Primer
(F):5'- GTGAAGTCGGGCGACTG -3'
(R):5'- atcccccctacccctcc -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation