Incidental Mutation 'IGL02447:Itpkb'
ID |
294055 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Itpkb
|
Ensembl Gene |
ENSMUSG00000038855 |
Gene Name |
inositol 1,4,5-trisphosphate 3-kinase B |
Synonyms |
1110033J02Rik, E130307H12Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.816)
|
Stock # |
IGL02447
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
180158050-180252367 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 180248919 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000069851
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070181]
|
AlphaFold |
B2RXC2 |
PDB Structure |
Crystal Structure of the Catalytic and CaM-Binding domains of Inositol 1,4,5-Trisphosphate 3-Kinase B [X-RAY DIFFRACTION]
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000070181
|
SMART Domains |
Protein: ENSMUSP00000069851 Gene: ENSMUSG00000038855
Domain | Start | End | E-Value | Type |
low complexity region
|
68 |
106 |
N/A |
INTRINSIC |
low complexity region
|
157 |
168 |
N/A |
INTRINSIC |
low complexity region
|
179 |
192 |
N/A |
INTRINSIC |
low complexity region
|
302 |
314 |
N/A |
INTRINSIC |
low complexity region
|
595 |
618 |
N/A |
INTRINSIC |
Pfam:IPK
|
722 |
933 |
3.5e-45 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this protein regulates inositol phosphate metabolism by phosphorylation of second messenger inositol 1,4,5-trisphosphate to Ins(1,3,4,5)P4. The activity of this encoded protein is responsible for regulating the levels of a large number of inositol polyphosphates that are important in cellular signaling. Both calcium/calmodulin and protein phosphorylation mechanisms control its activity. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygous mutation of this gene results in a block of thymocyte development at the double positive stage. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4fm4 |
T |
A |
4: 144,401,269 (GRCm39) |
I72F |
probably benign |
Het |
Abhd18 |
T |
A |
3: 40,888,208 (GRCm39) |
F351I |
probably benign |
Het |
Agfg1 |
T |
A |
1: 82,859,944 (GRCm39) |
|
probably benign |
Het |
Antxr2 |
C |
T |
5: 98,178,267 (GRCm39) |
V48I |
possibly damaging |
Het |
Bcl9l |
T |
C |
9: 44,418,631 (GRCm39) |
M823T |
probably benign |
Het |
Card11 |
G |
A |
5: 140,892,679 (GRCm39) |
H129Y |
possibly damaging |
Het |
Ccr1 |
A |
T |
9: 123,763,753 (GRCm39) |
V259E |
probably benign |
Het |
Cdk13 |
G |
T |
13: 17,947,001 (GRCm39) |
P586T |
probably benign |
Het |
Cep295 |
C |
T |
9: 15,243,807 (GRCm39) |
V1502I |
probably damaging |
Het |
Csnk1g3 |
T |
C |
18: 54,028,942 (GRCm39) |
S32P |
probably benign |
Het |
Dpysl4 |
G |
A |
7: 138,678,516 (GRCm39) |
R492Q |
probably damaging |
Het |
Duox2 |
A |
G |
2: 122,127,949 (GRCm39) |
L78P |
probably damaging |
Het |
Gm7361 |
T |
C |
5: 26,462,853 (GRCm39) |
S32P |
probably benign |
Het |
Grip1 |
T |
A |
10: 119,855,976 (GRCm39) |
V234E |
probably damaging |
Het |
Herc1 |
A |
T |
9: 66,404,610 (GRCm39) |
I4477L |
possibly damaging |
Het |
Il18r1 |
G |
A |
1: 40,537,497 (GRCm39) |
|
probably null |
Het |
Jag2 |
T |
C |
12: 112,876,232 (GRCm39) |
Y799C |
probably damaging |
Het |
Jak2 |
A |
G |
19: 29,277,014 (GRCm39) |
K857R |
probably damaging |
Het |
Kbtbd12 |
A |
T |
6: 88,595,676 (GRCm39) |
S51R |
probably damaging |
Het |
Kcnc2 |
T |
G |
10: 112,291,851 (GRCm39) |
D346E |
probably damaging |
Het |
Kcnh1 |
T |
A |
1: 191,907,224 (GRCm39) |
M92K |
possibly damaging |
Het |
Kcnk1 |
A |
G |
8: 126,751,819 (GRCm39) |
I142V |
probably damaging |
Het |
Lsm11 |
T |
C |
11: 45,828,191 (GRCm39) |
N196D |
probably damaging |
Het |
Mpeg1 |
G |
T |
19: 12,440,156 (GRCm39) |
C538F |
probably damaging |
Het |
Nrap |
G |
A |
19: 56,333,951 (GRCm39) |
Q969* |
probably null |
Het |
Nt5el |
A |
T |
13: 105,236,967 (GRCm39) |
S73C |
probably damaging |
Het |
Nup205 |
T |
C |
6: 35,204,511 (GRCm39) |
|
probably null |
Het |
Pdcd5 |
A |
G |
7: 35,342,110 (GRCm39) |
V166A |
possibly damaging |
Het |
Plcb2 |
A |
T |
2: 118,543,636 (GRCm39) |
I745N |
probably damaging |
Het |
Ptprt |
T |
C |
2: 162,120,027 (GRCm39) |
T147A |
probably benign |
Het |
Rbp3 |
A |
T |
14: 33,676,460 (GRCm39) |
D136V |
probably damaging |
Het |
Ripor3 |
G |
T |
2: 167,834,750 (GRCm39) |
T247N |
probably damaging |
Het |
Sgcd |
A |
C |
11: 46,870,082 (GRCm39) |
|
probably benign |
Het |
Slc26a6 |
T |
C |
9: 108,734,251 (GRCm39) |
Y211H |
probably benign |
Het |
Slc37a3 |
T |
A |
6: 39,314,129 (GRCm39) |
E494D |
probably benign |
Het |
Smc5 |
T |
C |
19: 23,234,856 (GRCm39) |
E326G |
probably benign |
Het |
Tctn2 |
T |
C |
5: 124,753,316 (GRCm39) |
|
noncoding transcript |
Het |
Tk2 |
T |
A |
8: 104,967,770 (GRCm39) |
N93I |
probably damaging |
Het |
Tmed6 |
A |
G |
8: 107,792,240 (GRCm39) |
F2L |
possibly damaging |
Het |
Tox3 |
A |
G |
8: 90,984,781 (GRCm39) |
|
probably benign |
Het |
Tspan9 |
T |
C |
6: 127,941,401 (GRCm39) |
Y237C |
probably benign |
Het |
Ubqlnl |
A |
G |
7: 103,797,856 (GRCm39) |
L547P |
probably damaging |
Het |
Uggt1 |
T |
C |
1: 36,189,223 (GRCm39) |
D1421G |
probably damaging |
Het |
Unc80 |
T |
A |
1: 66,542,703 (GRCm39) |
I319K |
possibly damaging |
Het |
Vac14 |
A |
G |
8: 111,380,260 (GRCm39) |
D441G |
probably benign |
Het |
Vamp8 |
C |
T |
6: 72,365,316 (GRCm39) |
V5M |
probably damaging |
Het |
Yeats2 |
T |
A |
16: 20,012,429 (GRCm39) |
H560Q |
probably benign |
Het |
Zfp13 |
C |
T |
17: 23,795,072 (GRCm39) |
A493T |
probably benign |
Het |
Zfp773 |
G |
T |
7: 7,139,655 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Itpkb |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00899:Itpkb
|
APN |
1 |
180,160,558 (GRCm39) |
missense |
probably benign |
|
IGL01733:Itpkb
|
APN |
1 |
180,160,734 (GRCm39) |
missense |
possibly damaging |
0.50 |
IGL01812:Itpkb
|
APN |
1 |
180,247,851 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01965:Itpkb
|
APN |
1 |
180,159,970 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03143:Itpkb
|
APN |
1 |
180,160,933 (GRCm39) |
missense |
probably benign |
|
IGL03228:Itpkb
|
APN |
1 |
180,241,564 (GRCm39) |
missense |
probably damaging |
1.00 |
lahar
|
UTSW |
1 |
180,154,790 (GRCm39) |
unclassified |
probably benign |
|
magma
|
UTSW |
1 |
180,241,540 (GRCm39) |
missense |
probably damaging |
1.00 |
Purpura
|
UTSW |
1 |
180,161,661 (GRCm39) |
missense |
probably damaging |
1.00 |
Pyroclastic
|
UTSW |
1 |
180,161,818 (GRCm39) |
intron |
probably benign |
|
volcano
|
UTSW |
1 |
180,248,880 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02991:Itpkb
|
UTSW |
1 |
180,155,279 (GRCm39) |
unclassified |
probably benign |
|
R0071:Itpkb
|
UTSW |
1 |
180,160,330 (GRCm39) |
missense |
probably damaging |
1.00 |
R0471:Itpkb
|
UTSW |
1 |
180,245,820 (GRCm39) |
missense |
probably damaging |
0.98 |
R0616:Itpkb
|
UTSW |
1 |
180,249,301 (GRCm39) |
missense |
probably damaging |
1.00 |
R1567:Itpkb
|
UTSW |
1 |
180,249,423 (GRCm39) |
missense |
probably benign |
0.00 |
R2060:Itpkb
|
UTSW |
1 |
180,249,423 (GRCm39) |
missense |
probably benign |
0.00 |
R2474:Itpkb
|
UTSW |
1 |
180,161,716 (GRCm39) |
missense |
probably damaging |
1.00 |
R3022:Itpkb
|
UTSW |
1 |
180,245,888 (GRCm39) |
missense |
probably damaging |
0.96 |
R3792:Itpkb
|
UTSW |
1 |
180,160,738 (GRCm39) |
missense |
possibly damaging |
0.81 |
R3831:Itpkb
|
UTSW |
1 |
180,161,260 (GRCm39) |
missense |
probably benign |
0.00 |
R3833:Itpkb
|
UTSW |
1 |
180,161,260 (GRCm39) |
missense |
probably benign |
0.00 |
R3967:Itpkb
|
UTSW |
1 |
180,155,363 (GRCm39) |
unclassified |
probably benign |
|
R3968:Itpkb
|
UTSW |
1 |
180,155,363 (GRCm39) |
unclassified |
probably benign |
|
R4735:Itpkb
|
UTSW |
1 |
180,245,780 (GRCm39) |
missense |
probably damaging |
1.00 |
R4774:Itpkb
|
UTSW |
1 |
180,245,759 (GRCm39) |
missense |
probably damaging |
1.00 |
R4807:Itpkb
|
UTSW |
1 |
180,162,440 (GRCm39) |
intron |
probably benign |
|
R4895:Itpkb
|
UTSW |
1 |
180,241,460 (GRCm39) |
missense |
probably damaging |
1.00 |
R5514:Itpkb
|
UTSW |
1 |
180,241,474 (GRCm39) |
missense |
probably damaging |
1.00 |
R5593:Itpkb
|
UTSW |
1 |
180,161,661 (GRCm39) |
missense |
probably damaging |
1.00 |
R5633:Itpkb
|
UTSW |
1 |
180,154,790 (GRCm39) |
unclassified |
probably benign |
|
R5772:Itpkb
|
UTSW |
1 |
180,161,818 (GRCm39) |
intron |
probably benign |
|
R5898:Itpkb
|
UTSW |
1 |
180,248,880 (GRCm39) |
missense |
probably damaging |
1.00 |
R5903:Itpkb
|
UTSW |
1 |
180,241,540 (GRCm39) |
missense |
probably damaging |
1.00 |
R7060:Itpkb
|
UTSW |
1 |
180,160,695 (GRCm39) |
missense |
probably damaging |
1.00 |
R7689:Itpkb
|
UTSW |
1 |
180,241,544 (GRCm39) |
missense |
probably damaging |
1.00 |
R7816:Itpkb
|
UTSW |
1 |
180,241,454 (GRCm39) |
missense |
probably damaging |
1.00 |
R8001:Itpkb
|
UTSW |
1 |
180,160,059 (GRCm39) |
missense |
probably damaging |
1.00 |
R8155:Itpkb
|
UTSW |
1 |
180,159,913 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8354:Itpkb
|
UTSW |
1 |
180,160,908 (GRCm39) |
missense |
possibly damaging |
0.90 |
R8690:Itpkb
|
UTSW |
1 |
180,249,346 (GRCm39) |
missense |
probably benign |
0.05 |
R8870:Itpkb
|
UTSW |
1 |
180,159,744 (GRCm39) |
start gained |
probably benign |
|
R9168:Itpkb
|
UTSW |
1 |
180,160,028 (GRCm39) |
missense |
probably benign |
0.01 |
R9203:Itpkb
|
UTSW |
1 |
180,161,004 (GRCm39) |
missense |
probably benign |
|
R9531:Itpkb
|
UTSW |
1 |
180,161,374 (GRCm39) |
missense |
probably benign |
0.19 |
R9651:Itpkb
|
UTSW |
1 |
180,160,056 (GRCm39) |
nonsense |
probably null |
|
R9652:Itpkb
|
UTSW |
1 |
180,160,056 (GRCm39) |
nonsense |
probably null |
|
R9653:Itpkb
|
UTSW |
1 |
180,160,056 (GRCm39) |
nonsense |
probably null |
|
R9757:Itpkb
|
UTSW |
1 |
180,160,372 (GRCm39) |
missense |
probably benign |
0.03 |
R9762:Itpkb
|
UTSW |
1 |
180,161,752 (GRCm39) |
missense |
probably benign |
0.23 |
RF008:Itpkb
|
UTSW |
1 |
180,160,887 (GRCm39) |
missense |
probably damaging |
0.99 |
RF017:Itpkb
|
UTSW |
1 |
180,160,887 (GRCm39) |
missense |
probably damaging |
0.99 |
RF018:Itpkb
|
UTSW |
1 |
180,160,887 (GRCm39) |
missense |
probably damaging |
0.99 |
X0066:Itpkb
|
UTSW |
1 |
180,249,345 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2015-04-16 |