Incidental Mutation 'R5756:Ibtk'
| ID |
501379 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ibtk
|
| Ensembl Gene |
ENSMUSG00000035941 |
| Gene Name |
inhibitor of Bruton agammaglobulinemia tyrosine kinase |
| Synonyms |
5430411K16Rik |
| MMRRC Submission |
043359-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5756 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
85569413-85631387 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 85613307 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 219
(V219L)
|
| 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: V219L
PolyPhen 2
Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000041145
Gene: ENSMUSG00000035941
AA Change: V219L
| 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 benign
Transcript: ENSMUST00000187521
AA Change: V219L
PolyPhen 2
Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000139424
Gene: ENSMUSG00000035941
AA Change: V219L
| 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 |
0.1103 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
100% (60/60) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579C12Rik |
A |
G |
9: 89,010,919 (GRCm39) |
|
noncoding transcript |
Het |
| Aqp6 |
A |
T |
15: 99,500,623 (GRCm39) |
I183F |
probably damaging |
Het |
| Asap1 |
A |
T |
15: 64,039,556 (GRCm39) |
M218K |
probably damaging |
Het |
| Astn2 |
G |
A |
4: 66,037,425 (GRCm39) |
|
probably benign |
Het |
| Bmp5 |
A |
G |
9: 75,683,649 (GRCm39) |
D92G |
probably benign |
Het |
| Cables1 |
A |
G |
18: 12,074,410 (GRCm39) |
D511G |
probably damaging |
Het |
| Cacna1e |
A |
G |
1: 154,347,383 (GRCm39) |
M928T |
probably benign |
Het |
| Calcoco1 |
T |
C |
15: 102,628,086 (GRCm39) |
N16S |
probably benign |
Het |
| Catspere2 |
A |
T |
1: 177,943,793 (GRCm39) |
Q710L |
unknown |
Het |
| Coro7 |
C |
T |
16: 4,450,148 (GRCm39) |
R567Q |
probably damaging |
Het |
| Dgki |
C |
T |
6: 36,913,993 (GRCm39) |
|
probably benign |
Het |
| Dusp11 |
T |
C |
6: 85,929,339 (GRCm39) |
I147V |
probably damaging |
Het |
| Eif2ak4 |
T |
C |
2: 118,293,221 (GRCm39) |
I1259T |
possibly damaging |
Het |
| Elapor2 |
A |
C |
5: 9,512,995 (GRCm39) |
K996N |
probably damaging |
Het |
| Etfdh |
T |
C |
3: 79,521,063 (GRCm39) |
I219V |
probably benign |
Het |
| Ffar4 |
C |
T |
19: 38,102,406 (GRCm39) |
T347I |
probably damaging |
Het |
| Fgf3 |
G |
A |
7: 144,396,688 (GRCm39) |
S234N |
probably benign |
Het |
| Fnta |
A |
T |
8: 26,499,735 (GRCm39) |
I155N |
possibly damaging |
Het |
| Gcm2 |
G |
A |
13: 41,263,372 (GRCm39) |
T20M |
probably damaging |
Het |
| Ggt5 |
A |
T |
10: 75,440,607 (GRCm39) |
M243L |
probably benign |
Het |
| Ggta1 |
T |
C |
2: 35,292,395 (GRCm39) |
Y304C |
probably damaging |
Het |
| Gm5454 |
A |
G |
13: 103,492,855 (GRCm39) |
|
noncoding transcript |
Het |
| Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
| Hrc |
T |
C |
7: 44,986,130 (GRCm39) |
V427A |
possibly damaging |
Het |
| Ift140 |
A |
G |
17: 25,247,787 (GRCm39) |
H215R |
possibly damaging |
Het |
| Itln1 |
A |
G |
1: 171,344,485 (GRCm39) |
|
probably benign |
Het |
| Kif13b |
T |
C |
14: 64,973,754 (GRCm39) |
I368T |
probably damaging |
Het |
| Lars2 |
T |
C |
9: 123,267,264 (GRCm39) |
Y529H |
probably damaging |
Het |
| Lrrc55 |
G |
A |
2: 85,026,727 (GRCm39) |
T99I |
probably benign |
Het |
| Mycbp2 |
A |
T |
14: 103,371,410 (GRCm39) |
I4156N |
probably damaging |
Het |
| Myo1c |
T |
G |
11: 75,549,240 (GRCm39) |
M137R |
probably benign |
Het |
| Or51i1 |
T |
C |
7: 103,670,889 (GRCm39) |
D212G |
probably damaging |
Het |
| Or6c8b |
A |
G |
10: 128,882,095 (GRCm39) |
V279A |
probably benign |
Het |
| Or8b54 |
T |
A |
9: 38,686,554 (GRCm39) |
M1K |
probably null |
Het |
| Pde7a |
A |
G |
3: 19,319,009 (GRCm39) |
V12A |
probably benign |
Het |
| Phyhip |
T |
G |
14: 70,704,532 (GRCm39) |
C250W |
probably damaging |
Het |
| Pisd |
G |
A |
5: 32,895,842 (GRCm39) |
T412I |
probably damaging |
Het |
| Polr3c |
T |
C |
3: 96,621,450 (GRCm39) |
N444S |
probably damaging |
Het |
| Sart1 |
T |
C |
19: 5,430,497 (GRCm39) |
E750G |
probably damaging |
Het |
| Sh3rf3 |
T |
C |
10: 58,940,204 (GRCm39) |
V675A |
probably damaging |
Het |
| Slc4a11 |
G |
T |
2: 130,529,783 (GRCm39) |
D307E |
probably benign |
Het |
| Slc6a16 |
A |
T |
7: 44,910,274 (GRCm39) |
I315F |
possibly damaging |
Het |
| Smarca5 |
A |
C |
8: 81,437,233 (GRCm39) |
S708A |
probably benign |
Het |
| Sv2c |
T |
C |
13: 96,122,475 (GRCm39) |
I434V |
probably benign |
Het |
| Tars3 |
A |
G |
7: 65,325,724 (GRCm39) |
K433E |
probably benign |
Het |
| Tbx15 |
A |
T |
3: 99,220,402 (GRCm39) |
I165F |
probably damaging |
Het |
| Tep1 |
C |
T |
14: 51,074,836 (GRCm39) |
|
probably null |
Het |
| Tex15 |
G |
A |
8: 34,065,861 (GRCm39) |
G1764S |
probably benign |
Het |
| Tnfrsf19 |
A |
G |
14: 61,262,224 (GRCm39) |
L13P |
probably benign |
Het |
| Tnnt3 |
G |
A |
7: 142,056,495 (GRCm39) |
|
probably null |
Het |
| Ttc23l |
G |
T |
15: 10,551,636 (GRCm39) |
T30K |
possibly damaging |
Het |
| Usp24 |
T |
A |
4: 106,219,680 (GRCm39) |
I597K |
probably damaging |
Het |
| Usp40 |
C |
T |
1: 87,879,413 (GRCm39) |
R960Q |
possibly damaging |
Het |
| Vps53 |
A |
T |
11: 75,983,156 (GRCm39) |
|
probably benign |
Het |
| Xylt1 |
C |
T |
7: 117,249,927 (GRCm39) |
T699I |
probably damaging |
Het |
| Zfp81 |
A |
C |
17: 33,553,307 (GRCm39) |
Y502* |
probably null |
Het |
| Zfyve26 |
T |
A |
12: 79,311,131 (GRCm39) |
H145L |
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 |
|
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'- ACCTGTCTGGGTACATTACAACTAG -3'
(R):5'- GCATTTGGGATACACTTGAGAC -3'
Sequencing Primer
(F):5'- TCTGGGTACATTACAACTAGCAGGTG -3'
(R):5'- CAGGTATTGCTAGGCCTGACATTATC -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation