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 |
85569413-85631387 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 85572356 bp (GRCm39)
|
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: 137,772,566 (GRCm39) |
I585N |
possibly damaging |
Het |
A830005F24Rik |
C |
T |
13: 48,667,848 (GRCm39) |
|
probably benign |
Het |
Abca16 |
C |
T |
7: 120,077,146 (GRCm39) |
|
probably benign |
Het |
Acot10 |
G |
A |
15: 20,666,322 (GRCm39) |
L140F |
probably benign |
Het |
Adam19 |
G |
T |
11: 46,027,086 (GRCm39) |
C573F |
probably damaging |
Het |
Aff3 |
A |
G |
1: 38,242,974 (GRCm39) |
S948P |
probably benign |
Het |
Anxa3 |
T |
A |
5: 96,986,260 (GRCm39) |
Y300N |
probably benign |
Het |
BC016579 |
T |
C |
16: 45,460,730 (GRCm39) |
T113A |
probably benign |
Het |
Bmpr1b |
A |
G |
3: 141,576,494 (GRCm39) |
L113P |
probably benign |
Het |
Casq1 |
T |
C |
1: 172,046,967 (GRCm39) |
|
probably benign |
Het |
Cdc16 |
T |
A |
8: 13,809,130 (GRCm39) |
|
probably null |
Het |
Cep135 |
C |
T |
5: 76,754,581 (GRCm39) |
R353* |
probably null |
Het |
Cma1 |
A |
T |
14: 56,179,621 (GRCm39) |
C188S |
probably damaging |
Het |
Csf3r |
A |
G |
4: 125,925,677 (GRCm39) |
T151A |
probably benign |
Het |
Cyp4b1 |
C |
T |
4: 115,504,718 (GRCm39) |
G56D |
possibly damaging |
Het |
Dbn1 |
T |
C |
13: 55,625,597 (GRCm39) |
E275G |
probably damaging |
Het |
Dlgap2 |
C |
T |
8: 14,777,363 (GRCm39) |
Q203* |
probably null |
Het |
Ephb3 |
A |
G |
16: 21,033,667 (GRCm39) |
D251G |
probably damaging |
Het |
Fancd2os |
G |
T |
6: 113,574,652 (GRCm39) |
T118N |
probably damaging |
Het |
Gm10801 |
T |
C |
2: 98,494,254 (GRCm39) |
|
probably benign |
Het |
Got1l1 |
C |
T |
8: 27,690,276 (GRCm39) |
V132I |
probably benign |
Het |
H2-M9 |
T |
C |
17: 36,952,419 (GRCm39) |
|
probably benign |
Het |
Kctd3 |
T |
C |
1: 188,708,818 (GRCm39) |
T519A |
probably damaging |
Het |
Lgsn |
T |
A |
1: 31,242,524 (GRCm39) |
V202D |
probably damaging |
Het |
Madd |
A |
G |
2: 91,006,053 (GRCm39) |
F381L |
possibly damaging |
Het |
Map1s |
G |
A |
8: 71,367,282 (GRCm39) |
G729D |
probably damaging |
Het |
Mlycd |
A |
G |
8: 120,137,174 (GRCm39) |
I465V |
probably benign |
Het |
Mrgprb1 |
T |
C |
7: 48,096,952 (GRCm39) |
R108G |
possibly damaging |
Het |
Mrgprx2 |
T |
A |
7: 48,131,771 (GRCm39) |
H106L |
possibly damaging |
Het |
Ncor1 |
T |
C |
11: 62,329,255 (GRCm39) |
Y6C |
probably damaging |
Het |
Nfkb1 |
T |
C |
3: 135,297,334 (GRCm39) |
D773G |
probably damaging |
Het |
Nxnl1 |
A |
G |
8: 72,019,217 (GRCm39) |
S3P |
probably damaging |
Het |
Or12d17 |
T |
A |
17: 37,777,694 (GRCm39) |
V199D |
probably damaging |
Het |
Or8b54 |
G |
A |
9: 38,686,892 (GRCm39) |
V114I |
probably benign |
Het |
Otud7a |
T |
C |
7: 63,385,549 (GRCm39) |
F338L |
probably benign |
Het |
Pdcl3 |
T |
A |
1: 39,030,361 (GRCm39) |
L14Q |
probably damaging |
Het |
Pla2g7 |
T |
A |
17: 43,905,821 (GRCm39) |
|
probably benign |
Het |
Prpf31 |
T |
A |
7: 3,642,667 (GRCm39) |
N413K |
probably benign |
Het |
Rapgef5 |
T |
C |
12: 117,652,896 (GRCm39) |
S307P |
probably benign |
Het |
Relt |
C |
A |
7: 100,499,428 (GRCm39) |
E164* |
probably null |
Het |
Rnf185 |
T |
C |
11: 3,376,617 (GRCm39) |
D86G |
probably damaging |
Het |
Rrm2b |
T |
C |
15: 37,953,985 (GRCm39) |
E21G |
probably benign |
Het |
Scn5a |
A |
G |
9: 119,351,632 (GRCm39) |
I783T |
probably damaging |
Het |
Senp1 |
T |
C |
15: 97,974,549 (GRCm39) |
R88G |
probably damaging |
Het |
Skint5 |
A |
T |
4: 113,403,665 (GRCm39) |
|
probably benign |
Het |
Slc35b1 |
T |
C |
11: 95,281,468 (GRCm39) |
S294P |
probably benign |
Het |
Slc5a2 |
T |
A |
7: 127,869,225 (GRCm39) |
I335N |
probably damaging |
Het |
Spata31e2 |
T |
A |
1: 26,722,450 (GRCm39) |
D910V |
probably benign |
Het |
Sstr1 |
T |
A |
12: 58,259,644 (GRCm39) |
M89K |
probably damaging |
Het |
Szt2 |
A |
T |
4: 118,241,969 (GRCm39) |
S1612R |
possibly damaging |
Het |
Taf1c |
T |
C |
8: 120,330,975 (GRCm39) |
|
probably null |
Het |
Taf1d |
T |
A |
9: 15,219,944 (GRCm39) |
S64R |
probably damaging |
Het |
Tmem125 |
A |
G |
4: 118,399,270 (GRCm39) |
S54P |
possibly damaging |
Het |
Ttf1 |
T |
A |
2: 28,961,361 (GRCm39) |
I583N |
possibly damaging |
Het |
Uchl4 |
A |
T |
9: 64,142,653 (GRCm39) |
|
probably null |
Het |
Unc5b |
A |
T |
10: 60,610,371 (GRCm39) |
I482N |
possibly damaging |
Het |
Unc80 |
C |
A |
1: 66,560,743 (GRCm39) |
Q824K |
probably benign |
Het |
Utrn |
T |
C |
10: 12,601,940 (GRCm39) |
|
probably benign |
Het |
Vmn2r61 |
T |
G |
7: 41,924,898 (GRCm39) |
I484R |
possibly damaging |
Het |
Vps13b |
T |
C |
15: 35,923,447 (GRCm39) |
I3774T |
possibly damaging |
Het |
Yipf1 |
T |
A |
4: 107,202,357 (GRCm39) |
L240* |
probably null |
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 |
|
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 |
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'- AGACCCAGAGTTGAAATGTACCACAGT -3'
(R):5'- GCACACGGTAATTTGTCTCCTGAGTC -3'
Sequencing Primer
(F):5'- TACCACAGTTCTCAGTGCGAG -3'
(R):5'- CAAGTGAAATGATGGTTCTCCC -3'
|
Posted On |
2013-08-06 |