Incidental Mutation 'R1462:Ibtk'
| ID |
158962 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ibtk
|
| Ensembl Gene |
ENSMUSG00000035941 |
| Gene Name |
inhibitor of Bruton agammaglobulinemia tyrosine kinase |
| Synonyms |
5430411K16Rik |
| MMRRC Submission |
039516-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1462 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
85569413-85631387 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 85606198 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 443
(I443N)
|
| 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: I443N
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000041145
Gene: ENSMUSG00000035941
AA Change: I443N
| 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: ENSMUST00000186322
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186447
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000187521
AA Change: I443N
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000139424
Gene: ENSMUSG00000035941
AA Change: I443N
| 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 |
0.7207 |
| Coding Region Coverage |
- 1x: 98.7%
- 3x: 97.4%
- 10x: 92.6%
- 20x: 79.9%
|
| Validation Efficiency |
|
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930433I11Rik |
C |
A |
7: 40,642,370 (GRCm39) |
S104* |
probably null |
Het |
| Abca9 |
T |
C |
11: 110,051,342 (GRCm39) |
D118G |
probably benign |
Het |
| Adamts16 |
A |
G |
13: 70,984,253 (GRCm39) |
F137L |
probably benign |
Het |
| Adamts3 |
T |
C |
5: 90,009,208 (GRCm39) |
I152V |
probably benign |
Het |
| Adcy4 |
T |
A |
14: 56,015,765 (GRCm39) |
E441D |
possibly damaging |
Het |
| Adgra1 |
T |
A |
7: 139,455,745 (GRCm39) |
Y458N |
probably damaging |
Het |
| Bhlhe22 |
C |
G |
3: 18,109,946 (GRCm39) |
S332C |
probably damaging |
Het |
| Card19 |
T |
A |
13: 49,358,760 (GRCm39) |
Q71L |
probably benign |
Het |
| Ccdc12 |
T |
C |
9: 110,485,662 (GRCm39) |
L11P |
probably damaging |
Het |
| Cdadc1 |
A |
G |
14: 59,813,307 (GRCm39) |
Y367H |
probably damaging |
Het |
| Cdc5l |
G |
T |
17: 45,719,288 (GRCm39) |
Q542K |
possibly damaging |
Het |
| Cep170 |
T |
C |
1: 176,584,211 (GRCm39) |
K723E |
possibly damaging |
Het |
| Cep70 |
A |
G |
9: 99,145,773 (GRCm39) |
I147V |
probably benign |
Het |
| Cfap58 |
A |
T |
19: 47,950,869 (GRCm39) |
H410L |
probably damaging |
Het |
| Chat |
T |
C |
14: 32,142,735 (GRCm39) |
K418R |
probably damaging |
Het |
| Cic |
T |
G |
7: 24,971,032 (GRCm39) |
D254E |
probably damaging |
Het |
| Ckap4 |
T |
C |
10: 84,363,431 (GRCm39) |
E544G |
probably damaging |
Het |
| Crnkl1 |
C |
T |
2: 145,763,739 (GRCm39) |
A500T |
probably damaging |
Het |
| Cyp2c38 |
T |
C |
19: 39,380,632 (GRCm39) |
N418D |
probably damaging |
Het |
| Daam1 |
A |
T |
12: 71,990,916 (GRCm39) |
I177L |
unknown |
Het |
| Ercc5 |
A |
G |
1: 44,219,784 (GRCm39) |
T1019A |
probably damaging |
Het |
| F13b |
T |
A |
1: 139,435,374 (GRCm39) |
V173E |
probably damaging |
Het |
| Fam20a |
A |
C |
11: 109,568,143 (GRCm39) |
F316V |
probably damaging |
Het |
| Flrt2 |
T |
C |
12: 95,746,112 (GRCm39) |
V150A |
probably damaging |
Het |
| Fnta |
A |
C |
8: 26,489,599 (GRCm39) |
|
probably null |
Het |
| Ghsr |
A |
G |
3: 27,426,025 (GRCm39) |
D27G |
probably benign |
Het |
| Gtpbp1 |
A |
G |
15: 79,592,086 (GRCm39) |
N96D |
probably damaging |
Het |
| H1f7 |
A |
T |
15: 98,154,454 (GRCm39) |
W232R |
unknown |
Het |
| Ifi207 |
T |
C |
1: 173,552,513 (GRCm39) |
H968R |
probably damaging |
Het |
| Ifit2 |
A |
G |
19: 34,550,586 (GRCm39) |
D42G |
probably null |
Het |
| Il17rc |
A |
T |
6: 113,455,950 (GRCm39) |
D265V |
probably damaging |
Het |
| Itfg2 |
T |
C |
6: 128,401,691 (GRCm39) |
D29G |
probably damaging |
Het |
| Itprid1 |
A |
G |
6: 55,952,649 (GRCm39) |
H864R |
probably damaging |
Het |
| Lrrc1 |
A |
G |
9: 77,349,547 (GRCm39) |
F295L |
probably benign |
Het |
| Mrps28 |
T |
A |
3: 8,965,184 (GRCm39) |
H85L |
possibly damaging |
Het |
| Mtpn |
T |
A |
6: 35,499,693 (GRCm39) |
K37M |
possibly damaging |
Het |
| Mug1 |
C |
T |
6: 121,859,588 (GRCm39) |
H1196Y |
probably benign |
Het |
| Mup4 |
T |
C |
4: 59,960,084 (GRCm39) |
H60R |
possibly damaging |
Het |
| Mybl2 |
T |
C |
2: 162,914,628 (GRCm39) |
S249P |
probably benign |
Het |
| Naip6 |
A |
G |
13: 100,436,748 (GRCm39) |
Y592H |
possibly damaging |
Het |
| Nrp1 |
A |
G |
8: 129,229,279 (GRCm39) |
N919S |
probably benign |
Het |
| Nudt9 |
C |
T |
5: 104,212,904 (GRCm39) |
Q326* |
probably null |
Het |
| Or5w13 |
A |
T |
2: 87,523,720 (GRCm39) |
C169S |
probably damaging |
Het |
| Or6c76b |
A |
G |
10: 129,693,100 (GRCm39) |
T238A |
probably damaging |
Het |
| Or7g17 |
T |
A |
9: 18,768,407 (GRCm39) |
M162K |
probably benign |
Het |
| Or9k7 |
T |
A |
10: 130,046,592 (GRCm39) |
I136F |
probably benign |
Het |
| Pcsk4 |
T |
C |
10: 80,161,815 (GRCm39) |
E142G |
probably damaging |
Het |
| Pde3a |
C |
A |
6: 141,405,560 (GRCm39) |
P471T |
probably benign |
Het |
| Pign |
A |
T |
1: 105,512,727 (GRCm39) |
V652E |
possibly damaging |
Het |
| Prkcb |
T |
A |
7: 122,181,672 (GRCm39) |
M420K |
probably damaging |
Het |
| Prr14 |
T |
A |
7: 127,073,160 (GRCm39) |
|
probably null |
Het |
| Rchy1 |
T |
A |
5: 92,105,741 (GRCm39) |
Q69L |
probably damaging |
Het |
| Sec23ip |
T |
G |
7: 128,367,862 (GRCm39) |
S625A |
probably benign |
Het |
| Smpdl3b |
A |
G |
4: 132,473,925 (GRCm39) |
S47P |
probably damaging |
Het |
| Speer4a3 |
T |
A |
5: 26,156,623 (GRCm39) |
I119F |
possibly damaging |
Het |
| Stil |
G |
A |
4: 114,881,161 (GRCm39) |
M568I |
probably benign |
Het |
| Syt3 |
T |
A |
7: 44,045,434 (GRCm39) |
V558E |
probably damaging |
Het |
| Szt2 |
A |
G |
4: 118,231,164 (GRCm39) |
V2533A |
unknown |
Het |
| Tenm4 |
A |
G |
7: 96,353,360 (GRCm39) |
Y384C |
probably damaging |
Het |
| Tfam |
T |
C |
10: 71,071,380 (GRCm39) |
E94G |
probably damaging |
Het |
| Tmbim7 |
A |
G |
5: 3,714,304 (GRCm39) |
T14A |
probably damaging |
Het |
| Tmtc2 |
A |
T |
10: 105,409,566 (GRCm39) |
Y15* |
probably null |
Het |
| Uhrf1 |
C |
T |
17: 56,625,035 (GRCm39) |
A526V |
probably damaging |
Het |
| Vmn2r67 |
T |
C |
7: 84,805,046 (GRCm39) |
D22G |
probably benign |
Het |
| Vmn2r96 |
A |
G |
17: 18,817,660 (GRCm39) |
I412M |
possibly damaging |
Het |
| Wdr17 |
A |
T |
8: 55,123,363 (GRCm39) |
I479K |
probably damaging |
Het |
| Wt1 |
T |
C |
2: 104,997,176 (GRCm39) |
V371A |
probably damaging |
Het |
| Zfp536 |
G |
T |
7: 37,178,735 (GRCm39) |
S226Y |
probably damaging |
Het |
| Zfp827 |
T |
C |
8: 79,803,108 (GRCm39) |
V560A |
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 |
|
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 |
|
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'- ACGTAATGAAGGACCACAATGCCAG -3'
(R):5'- AGTCATGGAAACACACAAGCTCAGG -3'
Sequencing Primer
(F):5'- TGCCAGAGAGTACATTCAATGC -3'
(R):5'- GCTCAGGCACTTACTCTGACAG -3'
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| Posted On |
2014-03-14 |
Incidental Mutation