Incidental Mutation 'R4273:Ibtk'
| ID |
500519 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ibtk
|
| Ensembl Gene |
ENSMUSG00000035941 |
| Gene Name |
inhibitor of Bruton agammaglobulinemia tyrosine kinase |
| Synonyms |
5430411K16Rik |
| MMRRC Submission |
041645-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4273 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
85569413-85631387 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 85608784 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 376
(Q376R)
|
| 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: Q376R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000041145
Gene: ENSMUSG00000035941
AA Change: Q376R
| 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 damaging
Transcript: ENSMUST00000187521
AA Change: Q376R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000139424
Gene: ENSMUSG00000035941
AA Change: Q376R
| 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: 99.4%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.1%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acer2 |
T |
A |
4: 86,792,835 (GRCm39) |
|
probably null |
Het |
| Adgrf2 |
T |
A |
17: 43,021,013 (GRCm39) |
T604S |
probably damaging |
Het |
| Akap8l |
T |
A |
17: 32,540,905 (GRCm39) |
K533* |
probably null |
Het |
| Appbp2 |
T |
C |
11: 85,125,502 (GRCm39) |
Y45C |
probably damaging |
Het |
| Arap2 |
T |
C |
5: 62,828,322 (GRCm39) |
I950V |
possibly damaging |
Het |
| Arhgap31 |
T |
C |
16: 38,422,697 (GRCm39) |
E1123G |
possibly damaging |
Het |
| Atp2c1 |
G |
T |
9: 105,312,339 (GRCm39) |
N493K |
probably benign |
Het |
| Bcr |
T |
C |
10: 74,960,943 (GRCm39) |
I458T |
probably damaging |
Het |
| Brd4 |
G |
A |
17: 32,433,756 (GRCm39) |
T468I |
probably benign |
Het |
| Cdh23 |
T |
A |
10: 60,146,940 (GRCm39) |
D2774V |
possibly damaging |
Het |
| Cfdp1 |
T |
C |
8: 112,495,417 (GRCm39) |
Y267C |
probably damaging |
Het |
| Chd6 |
C |
A |
2: 160,803,211 (GRCm39) |
A2156S |
probably benign |
Het |
| Dazap2 |
C |
A |
15: 100,515,971 (GRCm39) |
P100T |
probably damaging |
Het |
| Disp1 |
T |
A |
1: 182,869,208 (GRCm39) |
I1071F |
possibly damaging |
Het |
| Dlgap1 |
T |
A |
17: 71,073,038 (GRCm39) |
S686T |
probably benign |
Het |
| Dst |
C |
T |
1: 34,231,421 (GRCm39) |
R3183C |
possibly damaging |
Het |
| Enpp4 |
T |
C |
17: 44,412,698 (GRCm39) |
N279D |
probably benign |
Het |
| Exoc3l |
T |
C |
8: 106,016,593 (GRCm39) |
*740W |
probably null |
Het |
| Exoc5 |
A |
T |
14: 49,252,937 (GRCm39) |
C625* |
probably null |
Het |
| Fam98b |
A |
T |
2: 117,090,712 (GRCm39) |
N137Y |
possibly damaging |
Het |
| Fat4 |
T |
A |
3: 38,945,776 (GRCm39) |
D1556E |
probably damaging |
Het |
| Fcer2a |
C |
A |
8: 3,732,848 (GRCm39) |
V319L |
possibly damaging |
Het |
| Fer1l6 |
T |
C |
15: 58,499,371 (GRCm39) |
V1247A |
probably benign |
Het |
| Fmo4 |
A |
G |
1: 162,632,748 (GRCm39) |
V201A |
probably damaging |
Het |
| Fras1 |
G |
A |
5: 96,762,763 (GRCm39) |
G755D |
probably benign |
Het |
| Grid2 |
T |
C |
6: 63,886,029 (GRCm39) |
Y142H |
probably damaging |
Het |
| Hspg2 |
C |
T |
4: 137,246,251 (GRCm39) |
R1010C |
probably damaging |
Het |
| Impdh2 |
T |
C |
9: 108,442,155 (GRCm39) |
M414T |
probably damaging |
Het |
| Itm2c |
A |
G |
1: 85,834,750 (GRCm39) |
T160A |
probably damaging |
Het |
| Kcna2 |
T |
A |
3: 107,012,509 (GRCm39) |
D363E |
probably benign |
Het |
| Lama2 |
C |
T |
10: 27,223,050 (GRCm39) |
C412Y |
probably damaging |
Het |
| Lims2 |
C |
G |
18: 32,089,390 (GRCm39) |
T151S |
probably benign |
Het |
| Mier1 |
T |
C |
4: 103,019,628 (GRCm39) |
S423P |
possibly damaging |
Het |
| Mrgpra3 |
A |
T |
7: 47,239,180 (GRCm39) |
W249R |
probably benign |
Het |
| Mtor |
A |
G |
4: 148,634,609 (GRCm39) |
H2410R |
probably benign |
Het |
| Mvp |
C |
T |
7: 126,588,875 (GRCm39) |
A631T |
probably benign |
Het |
| Nepro |
T |
C |
16: 44,556,192 (GRCm39) |
V450A |
possibly damaging |
Het |
| Ngrn |
T |
C |
7: 79,914,269 (GRCm39) |
V140A |
probably damaging |
Het |
| Nobox |
T |
C |
6: 43,282,942 (GRCm39) |
E231G |
probably benign |
Het |
| Or10al7 |
A |
T |
17: 38,366,163 (GRCm39) |
I98N |
probably damaging |
Het |
| P3h2 |
T |
A |
16: 25,923,971 (GRCm39) |
I155F |
probably benign |
Het |
| Pcdha3 |
C |
T |
18: 37,081,144 (GRCm39) |
R629C |
probably damaging |
Het |
| Pramel24 |
A |
T |
4: 143,453,416 (GRCm39) |
K175* |
probably null |
Het |
| Riok3 |
AGAAGCGG |
AG |
18: 12,268,998 (GRCm39) |
|
probably benign |
Het |
| Rttn |
T |
C |
18: 89,110,020 (GRCm39) |
I1675T |
probably benign |
Het |
| Sall2 |
C |
A |
14: 52,551,260 (GRCm39) |
R643L |
probably damaging |
Het |
| Slc35f4 |
G |
T |
14: 49,541,758 (GRCm39) |
T182N |
possibly damaging |
Het |
| Slc52a3 |
T |
A |
2: 151,847,660 (GRCm39) |
I256N |
possibly damaging |
Het |
| Sox9 |
T |
C |
11: 112,675,980 (GRCm39) |
S390P |
possibly damaging |
Het |
| Tango2 |
T |
C |
16: 18,120,654 (GRCm39) |
|
probably benign |
Het |
| Tas1r1 |
T |
C |
4: 152,116,614 (GRCm39) |
E340G |
possibly damaging |
Het |
| Tek |
G |
A |
4: 94,718,207 (GRCm39) |
G524R |
probably damaging |
Het |
| Tmem260 |
A |
T |
14: 48,742,761 (GRCm39) |
Y532F |
probably benign |
Het |
| Tsks |
C |
A |
7: 44,607,353 (GRCm39) |
L559I |
probably damaging |
Het |
| Unc79 |
C |
A |
12: 103,088,612 (GRCm39) |
L1702I |
probably damaging |
Het |
| Vmn1r14 |
T |
A |
6: 57,211,133 (GRCm39) |
I237N |
probably damaging |
Het |
| Vmn2r17 |
G |
A |
5: 109,600,832 (GRCm39) |
C710Y |
probably benign |
Het |
| Zfp119b |
G |
T |
17: 56,245,926 (GRCm39) |
T420K |
possibly damaging |
Het |
| Zfp202 |
C |
T |
9: 40,118,790 (GRCm39) |
R68* |
probably null |
Het |
| Zfp229 |
T |
A |
17: 21,965,802 (GRCm39) |
S677R |
probably benign |
Het |
| Zfp462 |
C |
T |
4: 55,008,411 (GRCm39) |
H126Y |
probably benign |
Het |
| Zfp52 |
C |
A |
17: 21,780,459 (GRCm39) |
Y102* |
probably null |
Het |
| Zfp616 |
T |
A |
11: 73,974,526 (GRCm39) |
M265K |
probably benign |
Het |
| Zfyve9 |
A |
T |
4: 108,538,173 (GRCm39) |
I1031N |
probably damaging |
Het |
| Zmynd11 |
T |
C |
13: 9,747,726 (GRCm39) |
Y203C |
probably 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 |
|
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'- AGCCAGGCATTACACTTGG -3'
(R):5'- AGCTGTCCAGAGAATGAGACTC -3'
Sequencing Primer
(F):5'- GGCATTCCCATGGTCCATGTAAG -3'
(R):5'- CTGTCCAGAGAATGAGACTCTAAGTG -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation