Incidental Mutation 'R4827:Ibtk'
| ID |
372512 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ibtk
|
| Ensembl Gene |
ENSMUSG00000035941 |
| Gene Name |
inhibitor of Bruton agammaglobulinemia tyrosine kinase |
| Synonyms |
5430411K16Rik |
| MMRRC Submission |
042443-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4827 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
85569413-85631387 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 85610607 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 326
(V326F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041145
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039213]
[ENSMUST00000187521]
|
| AlphaFold |
Q6ZPR6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039213
AA Change: V326F
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000041145
Gene: ENSMUSG00000035941
AA Change: V326F
| 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: V326F
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000139424
Gene: ENSMUSG00000035941
AA Change: V326F
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
| Validation Efficiency |
96% (67/70) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adck1 |
A |
G |
12: 88,413,489 (GRCm39) |
R274G |
probably benign |
Het |
| Agbl5 |
T |
G |
5: 31,053,158 (GRCm39) |
S83R |
probably damaging |
Het |
| Ankib1 |
A |
G |
5: 3,751,907 (GRCm39) |
I711T |
probably damaging |
Het |
| Arnt |
T |
A |
3: 95,397,224 (GRCm39) |
|
probably null |
Het |
| Atad2 |
C |
G |
15: 57,971,744 (GRCm39) |
V702L |
probably benign |
Het |
| B4galnt4 |
A |
G |
7: 140,648,392 (GRCm39) |
E636G |
probably benign |
Het |
| Btbd2 |
A |
G |
10: 80,482,223 (GRCm39) |
I244T |
probably damaging |
Het |
| Cenpc1 |
A |
T |
5: 86,182,290 (GRCm39) |
N531K |
possibly damaging |
Het |
| Ces3b |
T |
A |
8: 105,813,527 (GRCm39) |
M266K |
probably benign |
Het |
| Cfap54 |
A |
T |
10: 92,737,937 (GRCm39) |
|
probably benign |
Het |
| Coq8a |
A |
G |
1: 179,994,903 (GRCm39) |
V590A |
possibly damaging |
Het |
| Drc7 |
A |
G |
8: 95,798,267 (GRCm39) |
Y504C |
probably damaging |
Het |
| Elovl4 |
T |
C |
9: 83,688,091 (GRCm39) |
M1V |
probably null |
Het |
| Exd1 |
C |
T |
2: 119,350,807 (GRCm39) |
A485T |
probably benign |
Het |
| Fads2 |
A |
G |
19: 10,059,958 (GRCm39) |
F239L |
probably benign |
Het |
| Gcc2 |
A |
T |
10: 58,121,953 (GRCm39) |
|
probably null |
Het |
| Ggact |
C |
T |
14: 123,128,987 (GRCm39) |
R76H |
probably benign |
Het |
| Gm17535 |
T |
A |
9: 3,035,786 (GRCm39) |
L218H |
probably benign |
Het |
| Gm3739 |
A |
T |
14: 18,506,218 (GRCm39) |
F13I |
probably damaging |
Het |
| Gng2 |
T |
C |
14: 19,925,898 (GRCm39) |
K65E |
possibly damaging |
Het |
| Gnmt |
A |
G |
17: 47,038,245 (GRCm39) |
Y94H |
possibly damaging |
Het |
| Gzme |
C |
A |
14: 56,356,755 (GRCm39) |
R69M |
probably null |
Het |
| Hdc |
G |
A |
2: 126,436,233 (GRCm39) |
P546L |
probably benign |
Het |
| Inpp5b |
G |
T |
4: 124,637,643 (GRCm39) |
|
probably benign |
Het |
| Kcnh7 |
A |
T |
2: 62,546,564 (GRCm39) |
C1006S |
probably benign |
Het |
| Kcnk18 |
A |
T |
19: 59,208,362 (GRCm39) |
N66I |
probably damaging |
Het |
| Lpar6 |
T |
A |
14: 73,476,190 (GRCm39) |
N50K |
probably damaging |
Het |
| Lrba |
G |
T |
3: 86,267,457 (GRCm39) |
D1716Y |
possibly damaging |
Het |
| Ltf |
T |
A |
9: 110,856,445 (GRCm39) |
|
probably benign |
Het |
| Map3k6 |
A |
G |
4: 132,976,160 (GRCm39) |
T794A |
possibly damaging |
Het |
| Mcm8 |
A |
G |
2: 132,665,174 (GRCm39) |
T217A |
probably damaging |
Het |
| Meaf6 |
A |
G |
4: 124,996,713 (GRCm39) |
E141G |
probably damaging |
Het |
| Mmp13 |
A |
G |
9: 7,278,880 (GRCm39) |
T324A |
possibly damaging |
Het |
| Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
| Msl2 |
T |
G |
9: 100,979,350 (GRCm39) |
F575V |
probably benign |
Het |
| Ncoa4-ps |
C |
T |
12: 119,225,529 (GRCm39) |
|
noncoding transcript |
Het |
| Nlrp2 |
A |
T |
7: 5,331,950 (GRCm39) |
W149R |
possibly damaging |
Het |
| Ntng1 |
C |
A |
3: 110,042,727 (GRCm39) |
C33F |
probably damaging |
Het |
| Nxn |
A |
G |
11: 76,152,418 (GRCm39) |
Y359H |
probably benign |
Het |
| Olfml2a |
A |
C |
2: 38,850,033 (GRCm39) |
D583A |
probably damaging |
Het |
| Or12j5 |
A |
C |
7: 140,083,583 (GRCm39) |
L263R |
probably damaging |
Het |
| Or1e32 |
A |
T |
11: 73,705,547 (GRCm39) |
Y120* |
probably null |
Het |
| Or2t48 |
A |
G |
11: 58,420,422 (GRCm39) |
I130T |
probably damaging |
Het |
| Or4b1b |
A |
T |
2: 90,112,547 (GRCm39) |
I124N |
probably damaging |
Het |
| Or51ac3 |
A |
T |
7: 103,213,752 (GRCm39) |
S245T |
probably damaging |
Het |
| Pcdha4 |
T |
C |
18: 37,086,251 (GRCm39) |
S145P |
probably damaging |
Het |
| Pcsk2 |
A |
T |
2: 143,643,099 (GRCm39) |
K459* |
probably null |
Het |
| Pirb |
C |
T |
7: 3,720,602 (GRCm39) |
G299S |
probably benign |
Het |
| Plch2 |
A |
G |
4: 155,075,570 (GRCm39) |
F653S |
probably damaging |
Het |
| Plpp3 |
T |
C |
4: 105,088,167 (GRCm39) |
I296T |
probably benign |
Het |
| Polr2b |
A |
G |
5: 77,490,398 (GRCm39) |
E846G |
probably benign |
Het |
| Ptpro |
A |
T |
6: 137,419,708 (GRCm39) |
N157Y |
probably damaging |
Het |
| Ralgapa1 |
A |
G |
12: 55,723,222 (GRCm39) |
L1815P |
probably damaging |
Het |
| Sap18 |
A |
G |
14: 58,036,020 (GRCm39) |
N69D |
probably damaging |
Het |
| Sncg |
C |
A |
14: 34,095,284 (GRCm39) |
V74F |
probably damaging |
Het |
| Spata31e2 |
T |
C |
1: 26,724,923 (GRCm39) |
K86E |
possibly damaging |
Het |
| Spmip4 |
A |
C |
6: 50,572,836 (GRCm39) |
S26A |
possibly damaging |
Het |
| Tmem186 |
A |
T |
16: 8,453,681 (GRCm39) |
Y193* |
probably null |
Het |
| Trrap |
A |
G |
5: 144,737,758 (GRCm39) |
S1045G |
probably benign |
Het |
| Tti2 |
T |
G |
8: 31,640,998 (GRCm39) |
S41A |
probably benign |
Het |
| Unc13c |
T |
C |
9: 73,838,568 (GRCm39) |
E761G |
probably damaging |
Het |
| Vamp2 |
T |
A |
11: 68,980,637 (GRCm39) |
D68E |
probably benign |
Het |
| Vmn1r200 |
A |
T |
13: 22,579,265 (GRCm39) |
M14L |
probably benign |
Het |
| Vps35 |
T |
A |
8: 86,000,186 (GRCm39) |
D480V |
possibly damaging |
Het |
| Zfp462 |
T |
C |
4: 55,012,213 (GRCm39) |
L1393P |
probably damaging |
Het |
| Zfp512 |
G |
A |
5: 31,630,158 (GRCm39) |
M274I |
probably benign |
Het |
| Znfx1 |
C |
G |
2: 166,886,151 (GRCm39) |
G803A |
possibly 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 |
|
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'- CAGCTATCAGTTGATAAGCAGC -3'
(R):5'- TTTCATACGGTGCTGTGGACTC -3'
Sequencing Primer
(F):5'- GCTATCAGTTGATAAGCAGCTAGAG -3'
(R):5'- TGGACTCGAGAAGCCGTTTACAC -3'
|
| Posted On |
2016-03-01 |
Incidental Mutation