Incidental Mutation 'R0026:Ibtk'
| ID |
64500 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ibtk
|
| Ensembl Gene |
ENSMUSG00000035941 |
| Gene Name |
inhibitor of Bruton agammaglobulinemia tyrosine kinase |
| Synonyms |
5430411K16Rik |
| MMRRC Submission |
038321-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0026 (G1)
|
| Quality Score |
130 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
85687360-85749334 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 85690303 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1278
(V1278A)
|
| 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: V1278A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000041145
Gene: ENSMUSG00000035941
AA Change: V1278A
| 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: ENSMUST00000186322
|
| 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 |
|
| Meta Mutation Damage Score |
0.0630 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.9%
- 10x: 97.8%
- 20x: 96.3%
|
| Validation Efficiency |
93% (70/75) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
T |
A |
3: 138,066,805 (GRCm38) |
I585N |
possibly damaging |
Het |
| 4931408C20Rik |
T |
A |
1: 26,683,369 (GRCm38) |
D910V |
probably benign |
Het |
| A830005F24Rik |
C |
T |
13: 48,514,372 (GRCm38) |
|
probably benign |
Het |
| Abca16 |
C |
T |
7: 120,477,923 (GRCm38) |
|
probably benign |
Het |
| Acot10 |
G |
A |
15: 20,666,236 (GRCm38) |
L140F |
probably benign |
Het |
| Adam19 |
G |
T |
11: 46,136,259 (GRCm38) |
C573F |
probably damaging |
Het |
| Aff3 |
A |
G |
1: 38,203,893 (GRCm38) |
S948P |
probably benign |
Het |
| Anxa3 |
T |
A |
5: 96,838,401 (GRCm38) |
Y300N |
probably benign |
Het |
| BC016579 |
T |
C |
16: 45,640,367 (GRCm38) |
T113A |
probably benign |
Het |
| Bmpr1b |
A |
G |
3: 141,870,733 (GRCm38) |
L113P |
probably benign |
Het |
| Casq1 |
T |
C |
1: 172,219,400 (GRCm38) |
|
probably benign |
Het |
| Cdc16 |
T |
A |
8: 13,759,130 (GRCm38) |
|
probably null |
Het |
| Cep135 |
C |
T |
5: 76,606,734 (GRCm38) |
R353* |
probably null |
Het |
| Cma1 |
A |
T |
14: 55,942,164 (GRCm38) |
C188S |
probably damaging |
Het |
| Csf3r |
A |
G |
4: 126,031,884 (GRCm38) |
T151A |
probably benign |
Het |
| Cyp4b1 |
C |
T |
4: 115,647,521 (GRCm38) |
G56D |
possibly damaging |
Het |
| Dbn1 |
T |
C |
13: 55,477,784 (GRCm38) |
E275G |
probably damaging |
Het |
| Dlgap2 |
C |
T |
8: 14,727,363 (GRCm38) |
Q203* |
probably null |
Het |
| Ephb3 |
A |
G |
16: 21,214,917 (GRCm38) |
D251G |
probably damaging |
Het |
| Fancd2os |
G |
T |
6: 113,597,691 (GRCm38) |
T118N |
probably damaging |
Het |
| Gm10801 |
T |
C |
2: 98,663,909 (GRCm38) |
|
probably benign |
Het |
| Got1l1 |
C |
T |
8: 27,200,248 (GRCm38) |
V132I |
probably benign |
Het |
| H2-M9 |
T |
C |
17: 36,641,527 (GRCm38) |
|
probably benign |
Het |
| Kctd3 |
T |
C |
1: 188,976,621 (GRCm38) |
T519A |
probably damaging |
Het |
| Lgsn |
T |
A |
1: 31,203,443 (GRCm38) |
V202D |
probably damaging |
Het |
| Madd |
A |
G |
2: 91,175,708 (GRCm38) |
F381L |
possibly damaging |
Het |
| Map1s |
G |
A |
8: 70,914,638 (GRCm38) |
G729D |
probably damaging |
Het |
| Mlycd |
A |
G |
8: 119,410,435 (GRCm38) |
I465V |
probably benign |
Het |
| Mrgprb1 |
T |
C |
7: 48,447,204 (GRCm38) |
R108G |
possibly damaging |
Het |
| Mrgprx2 |
T |
A |
7: 48,482,023 (GRCm38) |
H106L |
possibly damaging |
Het |
| Ncor1 |
T |
C |
11: 62,438,429 (GRCm38) |
Y6C |
probably damaging |
Het |
| Nfkb1 |
T |
C |
3: 135,591,573 (GRCm38) |
D773G |
probably damaging |
Het |
| Nxnl1 |
A |
G |
8: 71,566,573 (GRCm38) |
S3P |
probably damaging |
Het |
| Olfr109 |
T |
A |
17: 37,466,803 (GRCm38) |
V199D |
probably damaging |
Het |
| Olfr921 |
G |
A |
9: 38,775,596 (GRCm38) |
V114I |
probably benign |
Het |
| Otud7a |
T |
C |
7: 63,735,801 (GRCm38) |
F338L |
probably benign |
Het |
| Pdcl3 |
T |
A |
1: 38,991,280 (GRCm38) |
L14Q |
probably damaging |
Het |
| Pla2g7 |
T |
A |
17: 43,594,930 (GRCm38) |
|
probably benign |
Het |
| Prpf31 |
T |
A |
7: 3,639,668 (GRCm38) |
N413K |
probably benign |
Het |
| Rapgef5 |
T |
C |
12: 117,689,161 (GRCm38) |
S307P |
probably benign |
Het |
| Relt |
C |
A |
7: 100,850,221 (GRCm38) |
E164* |
probably null |
Het |
| Rnf185 |
T |
C |
11: 3,426,617 (GRCm38) |
D86G |
probably damaging |
Het |
| Rrm2b |
T |
C |
15: 37,953,741 (GRCm38) |
E21G |
probably benign |
Het |
| Scn5a |
A |
G |
9: 119,522,566 (GRCm38) |
I783T |
probably damaging |
Het |
| Senp1 |
T |
C |
15: 98,076,668 (GRCm38) |
R88G |
probably damaging |
Het |
| Skint5 |
A |
T |
4: 113,546,468 (GRCm38) |
|
probably benign |
Het |
| Slc35b1 |
T |
C |
11: 95,390,642 (GRCm38) |
S294P |
probably benign |
Het |
| Slc5a2 |
T |
A |
7: 128,270,053 (GRCm38) |
I335N |
probably damaging |
Het |
| Sstr1 |
T |
A |
12: 58,212,858 (GRCm38) |
M89K |
probably damaging |
Het |
| Szt2 |
A |
T |
4: 118,384,772 (GRCm38) |
S1612R |
possibly damaging |
Het |
| Taf1c |
T |
C |
8: 119,604,236 (GRCm38) |
|
probably null |
Het |
| Taf1d |
T |
A |
9: 15,308,648 (GRCm38) |
S64R |
probably damaging |
Het |
| Tmem125 |
A |
G |
4: 118,542,073 (GRCm38) |
S54P |
possibly damaging |
Het |
| Ttf1 |
T |
A |
2: 29,071,349 (GRCm38) |
I583N |
possibly damaging |
Het |
| Uchl4 |
A |
T |
9: 64,235,371 (GRCm38) |
|
probably null |
Het |
| Unc5b |
A |
T |
10: 60,774,592 (GRCm38) |
I482N |
possibly damaging |
Het |
| Unc80 |
C |
A |
1: 66,521,584 (GRCm38) |
Q824K |
probably benign |
Het |
| Utrn |
T |
C |
10: 12,726,196 (GRCm38) |
|
probably benign |
Het |
| Vmn2r61 |
T |
G |
7: 42,275,474 (GRCm38) |
I484R |
possibly damaging |
Het |
| Vps13b |
T |
C |
15: 35,923,301 (GRCm38) |
I3774T |
possibly damaging |
Het |
| Yipf1 |
T |
A |
4: 107,345,160 (GRCm38) |
L240* |
probably null |
Het |
|
| Other mutations in Ibtk |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00656:Ibtk
|
APN |
9 |
85,717,545 (GRCm38) |
splice site |
probably null |
|
|
IGL00852:Ibtk
|
APN |
9 |
85,713,601 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL00907:Ibtk
|
APN |
9 |
85,690,331 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
IGL01101:Ibtk
|
APN |
9 |
85,732,622 (GRCm38) |
splice site |
probably benign |
|
|
IGL02125:Ibtk
|
APN |
9 |
85,735,070 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02214:Ibtk
|
APN |
9 |
85,714,179 (GRCm38) |
splice site |
probably benign |
|
|
IGL02223:Ibtk
|
APN |
9 |
85,710,366 (GRCm38) |
splice site |
probably benign |
|
|
IGL02638:Ibtk
|
APN |
9 |
85,719,893 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02741:Ibtk
|
APN |
9 |
85,726,612 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03299:Ibtk
|
APN |
9 |
85,721,136 (GRCm38) |
missense |
probably benign |
0.27 |
|
IGL03493:Ibtk
|
APN |
9 |
85,718,919 (GRCm38) |
missense |
probably benign |
0.44 |
|
Biddie
|
UTSW |
9 |
85,697,237 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R0026:Ibtk
|
UTSW |
9 |
85,690,303 (GRCm38) |
missense |
probably benign |
|
|
R0558:Ibtk
|
UTSW |
9 |
85,737,538 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0569:Ibtk
|
UTSW |
9 |
85,708,181 (GRCm38) |
splice site |
probably benign |
|
|
R0932:Ibtk
|
UTSW |
9 |
85,735,046 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0973:Ibtk
|
UTSW |
9 |
85,743,577 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1237:Ibtk
|
UTSW |
9 |
85,720,748 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1245:Ibtk
|
UTSW |
9 |
85,720,742 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1462:Ibtk
|
UTSW |
9 |
85,724,145 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1462:Ibtk
|
UTSW |
9 |
85,724,145 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1921:Ibtk
|
UTSW |
9 |
85,703,082 (GRCm38) |
missense |
probably benign |
|
|
R2090:Ibtk
|
UTSW |
9 |
85,720,993 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2109:Ibtk
|
UTSW |
9 |
85,706,550 (GRCm38) |
missense |
probably benign |
|
|
R2277:Ibtk
|
UTSW |
9 |
85,703,151 (GRCm38) |
missense |
probably benign |
|
|
R2437:Ibtk
|
UTSW |
9 |
85,708,125 (GRCm38) |
missense |
probably benign |
0.27 |
|
R2446:Ibtk
|
UTSW |
9 |
85,703,073 (GRCm38) |
missense |
probably benign |
0.22 |
|
R3107:Ibtk
|
UTSW |
9 |
85,710,414 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3876:Ibtk
|
UTSW |
9 |
85,718,426 (GRCm38) |
missense |
probably benign |
0.06 |
|
R4160:Ibtk
|
UTSW |
9 |
85,703,090 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4273:Ibtk
|
UTSW |
9 |
85,726,731 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4321:Ibtk
|
UTSW |
9 |
85,735,072 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R4827:Ibtk
|
UTSW |
9 |
85,728,554 (GRCm38) |
missense |
probably benign |
0.04 |
|
R4947:Ibtk
|
UTSW |
9 |
85,710,412 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5228:Ibtk
|
UTSW |
9 |
85,726,689 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R5268:Ibtk
|
UTSW |
9 |
85,743,690 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5327:Ibtk
|
UTSW |
9 |
85,737,466 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5344:Ibtk
|
UTSW |
9 |
85,735,004 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R5414:Ibtk
|
UTSW |
9 |
85,726,689 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R5502:Ibtk
|
UTSW |
9 |
85,720,863 (GRCm38) |
missense |
probably benign |
0.13 |
|
R5756:Ibtk
|
UTSW |
9 |
85,731,254 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R7144:Ibtk
|
UTSW |
9 |
85,743,691 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7196:Ibtk
|
UTSW |
9 |
85,743,656 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7490:Ibtk
|
UTSW |
9 |
85,718,934 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R7571:Ibtk
|
UTSW |
9 |
85,722,300 (GRCm38) |
missense |
probably benign |
|
|
R7757:Ibtk
|
UTSW |
9 |
85,697,237 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R8007:Ibtk
|
UTSW |
9 |
85,690,717 (GRCm38) |
missense |
probably benign |
0.09 |
|
R8065:Ibtk
|
UTSW |
9 |
85,720,863 (GRCm38) |
missense |
probably benign |
0.13 |
|
R8407:Ibtk
|
UTSW |
9 |
85,721,066 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R8711:Ibtk
|
UTSW |
9 |
85,724,155 (GRCm38) |
missense |
probably benign |
|
|
R8753:Ibtk
|
UTSW |
9 |
85,728,766 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8835:Ibtk
|
UTSW |
9 |
85,737,510 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R8906:Ibtk
|
UTSW |
9 |
85,743,404 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R8980:Ibtk
|
UTSW |
9 |
85,732,730 (GRCm38) |
nonsense |
probably null |
|
|
R9140:Ibtk
|
UTSW |
9 |
85,735,061 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9230:Ibtk
|
UTSW |
9 |
85,703,649 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9406:Ibtk
|
UTSW |
9 |
85,721,340 (GRCm38) |
nonsense |
probably null |
|
|
R9745:Ibtk
|
UTSW |
9 |
85,731,227 (GRCm38) |
missense |
probably benign |
0.02 |
|
X0021:Ibtk
|
UTSW |
9 |
85,697,174 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGACCCAGAGTTGAAATGTACCACAGT -3'
(R):5'- GCACACGGTAATTTGTCTCCTGAGTC -3'
Sequencing Primer
(F):5'- TACCACAGTTCTCAGTGCGAG -3'
(R):5'- CAAGTGAAATGATGGTTCTCCC -3'
|
| Posted On |
2013-08-06 |
Incidental Mutation