Incidental Mutation 'IGL00899:Itpkb'
| ID |
26596 |
| 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 # |
IGL00899
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
180158050-180252367 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 180160558 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 228
(L228P)
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000050581
|
| SMART Domains |
Protein: ENSMUSP00000050698
Gene: ENSMUSG00000055676
| Domain | Start | End | E-Value | Type |
|---|
|
Gp_dh_N
|
2 |
154 |
5.53e-95 |
SMART |
|
Pfam:Gp_dh_C
|
159 |
316 |
5.8e-70 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070181
AA Change: L228P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000069851
Gene: ENSMUSG00000038855
AA Change: L228P
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192714
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195043
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AU018091 |
A |
G |
7: 3,208,603 (GRCm39) |
I442T |
probably benign |
Het |
| Bpifb9a |
T |
C |
2: 154,106,647 (GRCm39) |
|
probably null |
Het |
| Ccp110 |
T |
A |
7: 118,321,907 (GRCm39) |
C521S |
probably benign |
Het |
| Chd6 |
A |
G |
2: 160,871,218 (GRCm39) |
|
probably benign |
Het |
| Cndp2 |
A |
T |
18: 84,695,501 (GRCm39) |
D133E |
probably damaging |
Het |
| Crygs |
T |
C |
16: 22,625,312 (GRCm39) |
E43G |
possibly damaging |
Het |
| Ednra |
C |
T |
8: 78,401,700 (GRCm39) |
G197R |
probably damaging |
Het |
| Esyt1 |
A |
G |
10: 128,352,932 (GRCm39) |
L656P |
probably damaging |
Het |
| Ets1 |
C |
T |
9: 32,664,104 (GRCm39) |
P118L |
probably damaging |
Het |
| Fam98c |
A |
G |
7: 28,852,278 (GRCm39) |
|
probably benign |
Het |
| Foxi1 |
G |
A |
11: 34,155,772 (GRCm39) |
T286I |
probably benign |
Het |
| Gimap5 |
G |
A |
6: 48,730,107 (GRCm39) |
A226T |
possibly damaging |
Het |
| Heatr1 |
C |
T |
13: 12,450,057 (GRCm39) |
A2017V |
probably benign |
Het |
| Ikbkb |
T |
C |
8: 23,150,463 (GRCm39) |
S740G |
possibly damaging |
Het |
| Inppl1 |
A |
T |
7: 101,478,365 (GRCm39) |
I617N |
probably damaging |
Het |
| Kcnc4 |
T |
A |
3: 107,365,779 (GRCm39) |
D143V |
possibly damaging |
Het |
| Krtdap |
T |
A |
7: 30,489,387 (GRCm39) |
|
probably null |
Het |
| Lilra6 |
T |
A |
7: 3,916,056 (GRCm39) |
T268S |
probably damaging |
Het |
| M6pr |
A |
G |
6: 122,292,354 (GRCm39) |
E183G |
possibly damaging |
Het |
| Muc5ac |
T |
A |
7: 141,366,440 (GRCm39) |
V2168D |
possibly damaging |
Het |
| Nbea |
A |
G |
3: 55,550,266 (GRCm39) |
S2721P |
probably benign |
Het |
| Or1j20 |
A |
T |
2: 36,760,222 (GRCm39) |
I215L |
probably benign |
Het |
| Pqbp1 |
T |
C |
X: 7,762,243 (GRCm39) |
N94S |
probably benign |
Het |
| Prl3d2 |
T |
C |
13: 27,306,332 (GRCm39) |
S20P |
probably damaging |
Het |
| Psmb2 |
T |
C |
4: 126,601,350 (GRCm39) |
I151T |
probably benign |
Het |
| Rapgef6 |
G |
T |
11: 54,510,844 (GRCm39) |
E107* |
probably null |
Het |
| Slc2a13 |
T |
C |
15: 91,381,602 (GRCm39) |
T296A |
probably benign |
Het |
| Tcl1b4 |
A |
G |
12: 105,170,916 (GRCm39) |
T55A |
probably damaging |
Het |
| Tg |
T |
C |
15: 66,545,922 (GRCm39) |
|
probably null |
Het |
| Trim80 |
T |
G |
11: 115,338,491 (GRCm39) |
N440K |
probably benign |
Het |
| Ttc13 |
C |
T |
8: 125,415,586 (GRCm39) |
|
probably benign |
Het |
| Ttc38 |
T |
A |
15: 85,728,663 (GRCm39) |
I205N |
possibly damaging |
Het |
| Ufl1 |
T |
C |
4: 25,262,238 (GRCm39) |
D336G |
probably damaging |
Het |
| Vmn2r74 |
A |
T |
7: 85,606,338 (GRCm39) |
I336K |
probably benign |
Het |
| Zbtb26 |
G |
T |
2: 37,326,270 (GRCm39) |
Y255* |
probably null |
Het |
| Zfp462 |
T |
A |
4: 55,007,732 (GRCm39) |
V57E |
probably damaging |
Het |
|
| Other mutations in Itpkb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
IGL02447:Itpkb
|
APN |
1 |
180,248,919 (GRCm39) |
splice site |
probably benign |
|
|
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 |
2013-04-17 |
Incidental Mutation