Incidental Mutation 'R9531:Itpkb'
| ID |
719467 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itpkb
|
| Ensembl Gene |
ENSMUSG00000038855 |
| Gene Name |
inositol 1,4,5-trisphosphate 3-kinase B |
| Synonyms |
1110033J02Rik, E130307H12Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.816)
|
| Stock # |
R9531 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
180158050-180252367 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 180161374 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 500
(V500G)
|
| 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
AA Change: V500G
PolyPhen 2
Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000069851
Gene: ENSMUSG00000038855
AA Change: V500G
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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 |
|---|
| Acvr2b |
T |
A |
9: 119,260,392 (GRCm39) |
D354E |
probably benign |
Het |
| Atf7ip |
T |
G |
6: 136,537,875 (GRCm39) |
S369R |
probably benign |
Het |
| B4galnt3 |
A |
G |
6: 120,180,802 (GRCm39) |
M977T |
probably damaging |
Het |
| Bin1 |
A |
T |
18: 32,510,539 (GRCm39) |
E27V |
probably benign |
Het |
| Cacna1a |
T |
A |
8: 85,320,801 (GRCm39) |
F1586L |
probably benign |
Het |
| Cdh18 |
T |
A |
15: 23,436,562 (GRCm39) |
S473T |
probably benign |
Het |
| Chd7 |
T |
C |
4: 8,858,489 (GRCm39) |
M151T |
|
Het |
| Dhodh |
T |
C |
8: 110,321,623 (GRCm39) |
T300A |
probably benign |
Het |
| Etl4 |
A |
G |
2: 20,294,818 (GRCm39) |
M1V |
probably null |
Het |
| Ezh1 |
G |
A |
11: 101,104,657 (GRCm39) |
T130M |
probably damaging |
Het |
| Fshb |
T |
C |
2: 106,887,692 (GRCm39) |
D109G |
probably benign |
Het |
| Grm5 |
T |
C |
7: 87,780,075 (GRCm39) |
*1204R |
probably null |
Het |
| Jakmip1 |
C |
A |
5: 37,332,407 (GRCm39) |
T1029N |
probably damaging |
Het |
| Kdsr |
T |
C |
1: 106,667,063 (GRCm39) |
K231E |
probably damaging |
Het |
| Klb |
G |
A |
5: 65,540,948 (GRCm39) |
V1014I |
|
Het |
| Kng2 |
A |
G |
16: 22,830,907 (GRCm39) |
I134T |
possibly damaging |
Het |
| Lct |
T |
C |
1: 128,235,598 (GRCm39) |
S470G |
probably benign |
Het |
| Med1 |
A |
G |
11: 98,048,321 (GRCm39) |
V825A |
probably damaging |
Het |
| Mfap3l |
C |
G |
8: 61,109,787 (GRCm39) |
D54E |
probably damaging |
Het |
| Mrc2 |
A |
G |
11: 105,240,731 (GRCm39) |
M1474V |
possibly damaging |
Het |
| Mrpl15 |
T |
C |
1: 4,847,757 (GRCm39) |
R181G |
probably benign |
Het |
| Nek4 |
T |
C |
14: 30,692,307 (GRCm39) |
V377A |
probably benign |
Het |
| Or5b121 |
T |
C |
19: 13,507,936 (GRCm39) |
F344L |
probably benign |
Het |
| Pgap3 |
A |
G |
11: 98,288,823 (GRCm39) |
S111P |
probably damaging |
Het |
| Piezo2 |
G |
A |
18: 63,235,236 (GRCm39) |
T787M |
possibly damaging |
Het |
| Pik3c2g |
A |
C |
6: 139,841,926 (GRCm39) |
K777T |
|
Het |
| Pkd1 |
C |
T |
17: 24,792,114 (GRCm39) |
T1267I |
probably damaging |
Het |
| Ros1 |
T |
C |
10: 52,007,063 (GRCm39) |
D835G |
probably damaging |
Het |
| Slc4a10 |
T |
A |
2: 62,099,154 (GRCm39) |
I634N |
probably damaging |
Het |
| Slc8a3 |
A |
T |
12: 81,361,997 (GRCm39) |
I274N |
probably damaging |
Het |
| Steap4 |
A |
G |
5: 8,028,424 (GRCm39) |
D334G |
probably benign |
Het |
| Tbc1d30 |
A |
G |
10: 121,183,105 (GRCm39) |
L111P |
probably damaging |
Het |
| Ttc24 |
A |
G |
3: 87,978,416 (GRCm39) |
S252P |
possibly damaging |
Het |
| Ubr4 |
A |
G |
4: 139,135,217 (GRCm39) |
T850A |
probably benign |
Het |
| Zbbx |
A |
G |
3: 74,985,865 (GRCm39) |
S396P |
probably damaging |
Het |
| Zkscan2 |
A |
T |
7: 123,088,837 (GRCm39) |
I478N |
probably damaging |
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 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGCCTGTAGACCTGGATTC -3'
(R):5'- GCTGCAGGCCTCTTTTAAGG -3'
Sequencing Primer
(F):5'- CCTGTAGACCTGGATTCCGTAG -3'
(R):5'- GCCTCTTTTAAGGAGGCCTTGTC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation