Incidental Mutation 'R8007:Ibtk'
| ID |
616691 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ibtk
|
| Ensembl Gene |
ENSMUSG00000035941 |
| Gene Name |
inhibitor of Bruton agammaglobulinemia tyrosine kinase |
| Synonyms |
5430411K16Rik |
| MMRRC Submission |
046047-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8007 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
85569413-85631387 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 85572770 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 1257
(D1257E)
|
| 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: D1257E
PolyPhen 2
Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000041145
Gene: ENSMUSG00000035941
AA Change: D1257E
| 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 |
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (62/62) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
T |
A |
6: 121,647,845 (GRCm39) |
|
probably benign |
Het |
| A430033K04Rik |
T |
C |
5: 138,644,901 (GRCm39) |
I262T |
probably benign |
Het |
| Acacb |
A |
G |
5: 114,356,935 (GRCm39) |
R1289G |
probably damaging |
Het |
| Adgre4 |
A |
T |
17: 56,121,233 (GRCm39) |
H433L |
probably damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,431,585 (GRCm39) |
F5948L |
probably benign |
Het |
| Adtrp |
A |
T |
13: 41,969,707 (GRCm39) |
D97E |
probably damaging |
Het |
| Anapc5 |
T |
C |
5: 122,929,963 (GRCm39) |
T543A |
probably benign |
Het |
| Ank2 |
G |
C |
3: 126,730,096 (GRCm39) |
|
probably benign |
Het |
| Cacna2d4 |
C |
T |
6: 119,289,405 (GRCm39) |
A813V |
probably benign |
Het |
| Cc2d2a |
T |
A |
5: 43,863,442 (GRCm39) |
Y684N |
possibly damaging |
Het |
| Cenpf |
G |
A |
1: 189,379,144 (GRCm39) |
P35L |
|
Het |
| Chtf18 |
A |
G |
17: 25,944,508 (GRCm39) |
F281L |
probably damaging |
Het |
| Clstn1 |
T |
C |
4: 149,716,305 (GRCm39) |
V257A |
probably damaging |
Het |
| Cnmd |
A |
T |
14: 79,875,406 (GRCm39) |
V338E |
probably damaging |
Het |
| Col6a3 |
A |
C |
1: 90,705,179 (GRCm39) |
F2848V |
unknown |
Het |
| Corin |
T |
C |
5: 72,473,446 (GRCm39) |
S888G |
probably damaging |
Het |
| Ctss |
A |
T |
3: 95,457,465 (GRCm39) |
S309C |
probably null |
Het |
| Dmxl2 |
G |
A |
9: 54,290,975 (GRCm39) |
Q2492* |
probably null |
Het |
| Exoc7 |
C |
T |
11: 116,197,465 (GRCm39) |
R12Q |
possibly damaging |
Het |
| F12 |
A |
G |
13: 55,566,265 (GRCm39) |
I509T |
probably damaging |
Het |
| F13b |
A |
G |
1: 139,434,680 (GRCm39) |
K149E |
probably benign |
Het |
| Fasn |
A |
G |
11: 120,700,353 (GRCm39) |
I2159T |
probably benign |
Het |
| Fgfr2 |
A |
T |
7: 129,765,719 (GRCm39) |
Y831* |
probably null |
Het |
| Foxp1 |
A |
T |
6: 98,918,595 (GRCm39) |
S514R |
unknown |
Het |
| Gm11569 |
A |
G |
11: 99,689,688 (GRCm39) |
S4P |
unknown |
Het |
| Gria4 |
T |
C |
9: 4,503,740 (GRCm39) |
|
probably benign |
Het |
| Hnrnpul2 |
T |
A |
19: 8,798,179 (GRCm39) |
|
probably null |
Het |
| Ip6k2 |
T |
C |
9: 108,682,955 (GRCm39) |
V355A |
probably benign |
Het |
| Kcnd2 |
G |
A |
6: 21,217,073 (GRCm39) |
R259H |
probably damaging |
Het |
| Kcnj2 |
A |
C |
11: 110,963,884 (GRCm39) |
E425D |
probably benign |
Het |
| Ldlrad1 |
G |
A |
4: 107,066,688 (GRCm39) |
A8T |
probably benign |
Het |
| Lgi2 |
C |
A |
5: 52,723,375 (GRCm39) |
A25S |
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,336,849 (GRCm39) |
T1308A |
probably benign |
Het |
| Ly6g2 |
A |
G |
15: 75,088,552 (GRCm39) |
T7A |
probably benign |
Het |
| Matn2 |
A |
T |
15: 34,426,315 (GRCm39) |
N609I |
probably benign |
Het |
| Mocs2 |
T |
A |
13: 114,957,409 (GRCm39) |
S9T |
possibly damaging |
Het |
| Nebl |
T |
A |
2: 17,375,300 (GRCm39) |
I102F |
|
Het |
| Nudt19 |
A |
G |
7: 35,255,045 (GRCm39) |
V62A |
probably benign |
Het |
| Or10u4 |
T |
A |
10: 129,801,744 (GRCm39) |
D269V |
possibly damaging |
Het |
| Or12k8 |
T |
A |
2: 36,974,855 (GRCm39) |
R302W |
probably damaging |
Het |
| Or4a68 |
C |
T |
2: 89,270,684 (GRCm39) |
|
|
Het |
| Or4k42 |
A |
T |
2: 111,320,068 (GRCm39) |
V145E |
probably damaging |
Het |
| Pacrg |
A |
G |
17: 11,058,919 (GRCm39) |
|
probably benign |
Het |
| Pappa2 |
A |
G |
1: 158,609,874 (GRCm39) |
I1529T |
probably damaging |
Het |
| Pcdhga7 |
A |
T |
18: 37,849,946 (GRCm39) |
H651L |
probably benign |
Het |
| Plch2 |
A |
G |
4: 155,087,288 (GRCm39) |
L321P |
probably damaging |
Het |
| Ppargc1b |
A |
T |
18: 61,443,565 (GRCm39) |
S549T |
possibly damaging |
Het |
| Rtel1 |
T |
A |
2: 180,976,767 (GRCm39) |
N254K |
probably damaging |
Het |
| Rtl1 |
T |
C |
12: 109,558,060 (GRCm39) |
N1260D |
possibly damaging |
Het |
| Samd7 |
T |
A |
3: 30,812,531 (GRCm39) |
W324R |
probably damaging |
Het |
| Serpinb9e |
A |
G |
13: 33,435,605 (GRCm39) |
I13V |
probably benign |
Het |
| Skint10 |
A |
G |
4: 112,568,865 (GRCm39) |
L284S |
possibly damaging |
Het |
| Slc25a38 |
T |
A |
9: 119,951,208 (GRCm39) |
I247K |
possibly damaging |
Het |
| Smarce1 |
G |
C |
11: 99,115,876 (GRCm39) |
N48K |
possibly damaging |
Het |
| Stmn4 |
T |
G |
14: 66,593,032 (GRCm39) |
|
probably benign |
Het |
| Stt3a |
G |
C |
9: 36,653,065 (GRCm39) |
T539R |
probably damaging |
Het |
| Tab1 |
G |
A |
15: 80,042,969 (GRCm39) |
V388I |
possibly damaging |
Het |
| Tcf12 |
G |
C |
9: 71,841,905 (GRCm39) |
|
probably benign |
Het |
| Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
| Trp53inp1 |
T |
C |
4: 11,164,525 (GRCm39) |
F23S |
probably damaging |
Het |
| Vmn2r14 |
A |
T |
5: 109,368,324 (GRCm39) |
L223M |
probably benign |
Het |
| Yae1d1 |
G |
A |
13: 18,164,329 (GRCm39) |
S96L |
probably damaging |
Het |
| Zfp142 |
T |
C |
1: 74,610,655 (GRCm39) |
I1047V |
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 |
|
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 |
|
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'- CACTTGAAAGGTTGAGGTACACG -3'
(R):5'- TAAGCTGAGCCTGACTGCAC -3'
Sequencing Primer
(F):5'- ACAGGTGTAGTAGGTTAACTCTTAC -3'
(R):5'- GCCTGACTGCACACGGTAATTTG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation