Incidental Mutation 'R5344:Ibtk'
| ID |
422505 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ibtk
|
| Ensembl Gene |
ENSMUSG00000035941 |
| Gene Name |
inhibitor of Bruton agammaglobulinemia tyrosine kinase |
| Synonyms |
5430411K16Rik |
| MMRRC Submission |
042923-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5344 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
85569413-85631387 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 85617057 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 172
(F172L)
|
| 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: F172L
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000041145
Gene: ENSMUSG00000035941
AA Change: F172L
| 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 |
possibly damaging
Transcript: ENSMUST00000187521
AA Change: F172L
PolyPhen 2
Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000139424
Gene: ENSMUSG00000035941
AA Change: F172L
| 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 |
0.1174 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
99% (67/68) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
G |
12: 71,289,801 (GRCm39) |
C1499G |
probably benign |
Het |
| Aldoart1 |
A |
G |
4: 72,770,352 (GRCm39) |
V152A |
possibly damaging |
Het |
| Alms1 |
T |
C |
6: 85,673,771 (GRCm39) |
L3591P |
probably benign |
Het |
| Ankrd12 |
A |
T |
17: 66,356,843 (GRCm39) |
M58K |
probably damaging |
Het |
| Asb3 |
A |
C |
11: 31,051,114 (GRCm39) |
I523L |
probably benign |
Het |
| Ascl2 |
T |
C |
7: 142,522,436 (GRCm39) |
H4R |
possibly damaging |
Het |
| Asic2 |
T |
C |
11: 80,862,413 (GRCm39) |
M246V |
probably damaging |
Het |
| Btc |
A |
T |
5: 91,524,779 (GRCm39) |
C53S |
possibly damaging |
Het |
| Cdhr5 |
T |
C |
7: 140,856,437 (GRCm39) |
I39M |
probably damaging |
Het |
| Cdkn3 |
T |
A |
14: 47,004,807 (GRCm39) |
M123K |
possibly damaging |
Het |
| Cebpz |
A |
G |
17: 79,233,542 (GRCm39) |
Y762H |
possibly damaging |
Het |
| Ces1g |
T |
A |
8: 94,063,821 (GRCm39) |
|
probably benign |
Het |
| Cfap44 |
T |
C |
16: 44,236,763 (GRCm39) |
|
probably null |
Het |
| Chd7 |
G |
T |
4: 8,844,417 (GRCm39) |
G1537W |
probably damaging |
Het |
| Clca3a2 |
A |
T |
3: 144,793,703 (GRCm39) |
D317E |
probably damaging |
Het |
| Clec3a |
C |
A |
8: 115,149,712 (GRCm39) |
N56K |
probably damaging |
Het |
| Col11a1 |
T |
A |
3: 114,002,011 (GRCm39) |
|
probably null |
Het |
| Cox20 |
G |
A |
1: 178,149,598 (GRCm39) |
|
probably benign |
Het |
| Cyp2d22 |
A |
G |
15: 82,255,839 (GRCm39) |
V471A |
possibly damaging |
Het |
| D630045J12Rik |
A |
G |
6: 38,135,163 (GRCm39) |
V1339A |
probably damaging |
Het |
| Duox2 |
T |
C |
2: 122,112,352 (GRCm39) |
D1278G |
probably benign |
Het |
| Epc1 |
G |
A |
18: 6,450,614 (GRCm39) |
P284L |
probably benign |
Het |
| Evi5l |
G |
T |
8: 4,235,990 (GRCm39) |
R61L |
possibly damaging |
Het |
| Fbln2 |
T |
C |
6: 91,243,365 (GRCm39) |
Y914H |
probably damaging |
Het |
| Fbxo44 |
A |
G |
4: 148,238,030 (GRCm39) |
S191P |
probably damaging |
Het |
| Fign |
A |
G |
2: 63,809,569 (GRCm39) |
I567T |
probably benign |
Het |
| Fryl |
C |
T |
5: 73,262,117 (GRCm39) |
R550K |
probably damaging |
Het |
| Gpcpd1 |
G |
A |
2: 132,400,597 (GRCm39) |
|
probably benign |
Het |
| Hectd4 |
T |
C |
5: 121,481,739 (GRCm39) |
I3096T |
probably benign |
Het |
| Hic2 |
T |
A |
16: 17,075,712 (GRCm39) |
D180E |
probably benign |
Het |
| Itga1 |
A |
G |
13: 115,138,845 (GRCm39) |
S369P |
possibly damaging |
Het |
| Itgb4 |
G |
A |
11: 115,880,575 (GRCm39) |
R675Q |
probably null |
Het |
| Lrrc3b |
T |
C |
14: 15,358,591 (GRCm38) |
D5G |
probably damaging |
Het |
| Maml3 |
T |
A |
3: 52,011,146 (GRCm39) |
D140V |
probably damaging |
Het |
| Med21 |
A |
G |
6: 146,550,683 (GRCm39) |
T65A |
probably benign |
Het |
| Mta1 |
T |
C |
12: 113,095,186 (GRCm39) |
|
probably benign |
Het |
| Mybpc1 |
T |
C |
10: 88,406,430 (GRCm39) |
D152G |
probably damaging |
Het |
| Oas1b |
C |
A |
5: 120,960,269 (GRCm39) |
Q325K |
probably benign |
Het |
| Or10j27 |
A |
G |
1: 172,958,673 (GRCm39) |
L37P |
probably benign |
Het |
| Or2n1c |
C |
A |
17: 38,519,995 (GRCm39) |
N286K |
probably damaging |
Het |
| Or5d44 |
A |
C |
2: 88,141,334 (GRCm39) |
C269G |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,726,626 (GRCm39) |
|
probably benign |
Het |
| Phactr2 |
C |
T |
10: 13,129,360 (GRCm39) |
V233I |
possibly damaging |
Het |
| Plekha2 |
A |
T |
8: 25,533,063 (GRCm39) |
|
probably null |
Het |
| Reg3b |
A |
G |
6: 78,349,843 (GRCm39) |
M128V |
probably benign |
Het |
| Rnaseh2a |
A |
G |
8: 85,684,735 (GRCm39) |
|
probably benign |
Het |
| Scn5a |
T |
C |
9: 119,363,073 (GRCm39) |
S516G |
probably benign |
Het |
| Serpina12 |
T |
A |
12: 104,001,807 (GRCm39) |
|
probably null |
Het |
| Slc10a1 |
T |
C |
12: 81,000,540 (GRCm39) |
T320A |
possibly damaging |
Het |
| Slc26a7 |
A |
T |
4: 14,519,402 (GRCm39) |
D539E |
probably benign |
Het |
| Specc1l |
C |
A |
10: 75,082,007 (GRCm39) |
R485S |
possibly damaging |
Het |
| Srp54b |
T |
G |
12: 55,302,366 (GRCm39) |
I339S |
probably damaging |
Het |
| Tada1 |
G |
A |
1: 166,207,081 (GRCm39) |
|
probably benign |
Het |
| Trim16 |
T |
C |
11: 62,711,751 (GRCm39) |
C54R |
probably damaging |
Het |
| Trio |
C |
T |
15: 27,735,618 (GRCm39) |
R2824Q |
probably benign |
Het |
| Ttpa |
A |
G |
4: 20,021,245 (GRCm39) |
I138V |
probably damaging |
Het |
| Ubap2 |
A |
C |
4: 41,251,578 (GRCm39) |
M18R |
possibly damaging |
Het |
| Usp38 |
A |
G |
8: 81,712,392 (GRCm39) |
S548P |
possibly damaging |
Het |
| Vmn2r73 |
T |
C |
7: 85,525,046 (GRCm39) |
D34G |
probably benign |
Het |
| Vps13d |
T |
A |
4: 144,904,904 (GRCm39) |
H74L |
probably damaging |
Het |
| Zfp408 |
C |
T |
2: 91,475,588 (GRCm39) |
C622Y |
probably benign |
Het |
| Zfp616 |
T |
C |
11: 73,975,321 (GRCm39) |
I530T |
possibly damaging |
Het |
| Zfp9 |
C |
A |
6: 118,442,140 (GRCm39) |
C174F |
probably damaging |
Het |
| Zfyve16 |
A |
G |
13: 92,658,096 (GRCm39) |
I605T |
possibly damaging |
Het |
| Zmym5 |
T |
C |
14: 57,031,519 (GRCm39) |
T530A |
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 |
|
|
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'- TCAGGATATCAGGACCATGCAC -3'
(R):5'- GGTAAACTGATGCTCATTGTGTATC -3'
Sequencing Primer
(F):5'- GGTACCTTACAGTCCTGAAATGAC -3'
(R):5'- TGCTCATTGTGTATCTATAATTAGGC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation