Incidental Mutation 'R5514:Itpkb'
ID |
440209 |
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 |
043074-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.816)
|
Stock # |
R5514 (G1)
|
Quality Score |
203 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
180158050-180252367 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 180241474 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 715
(V715M)
|
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 damaging
Transcript: ENSMUST00000070181
AA Change: V715M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000069851 Gene: ENSMUSG00000038855 AA Change: V715M
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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam17 |
T |
C |
12: 21,390,520 (GRCm39) |
S382G |
probably damaging |
Het |
Agr2 |
G |
A |
12: 36,046,090 (GRCm39) |
V74I |
probably benign |
Het |
Aldh3a1 |
T |
C |
11: 61,108,867 (GRCm39) |
S423P |
probably damaging |
Het |
Ampd1 |
C |
T |
3: 102,986,488 (GRCm39) |
H56Y |
possibly damaging |
Het |
Arhgef2 |
C |
A |
3: 88,550,304 (GRCm39) |
P670T |
probably benign |
Het |
Blk |
T |
G |
14: 63,615,930 (GRCm39) |
D333A |
probably damaging |
Het |
Bmi1 |
T |
C |
2: 18,686,714 (GRCm39) |
I31T |
probably damaging |
Het |
Cacna1d |
G |
A |
14: 30,072,790 (GRCm39) |
Q62* |
probably null |
Het |
Ccdc88c |
A |
G |
12: 100,879,698 (GRCm39) |
S1801P |
probably damaging |
Het |
Cdkal1 |
C |
T |
13: 29,961,270 (GRCm39) |
A100T |
probably damaging |
Het |
Cfap251 |
G |
T |
5: 123,425,829 (GRCm39) |
|
probably null |
Het |
Chst4 |
G |
T |
8: 110,756,606 (GRCm39) |
S419Y |
probably damaging |
Het |
Cntn4 |
T |
C |
6: 106,649,844 (GRCm39) |
I680T |
probably damaging |
Het |
Ddx55 |
T |
C |
5: 124,694,875 (GRCm39) |
V101A |
probably damaging |
Het |
Ddx60 |
A |
T |
8: 62,411,091 (GRCm39) |
E451V |
probably damaging |
Het |
Dffa |
T |
A |
4: 149,190,772 (GRCm39) |
|
probably null |
Het |
Dgkd |
A |
G |
1: 87,861,832 (GRCm39) |
R796G |
probably damaging |
Het |
Dzank1 |
T |
A |
2: 144,323,605 (GRCm39) |
M614L |
probably benign |
Het |
Elf2 |
G |
T |
3: 51,215,555 (GRCm39) |
Q52K |
probably damaging |
Het |
Fcamr |
T |
A |
1: 130,741,793 (GRCm39) |
L522Q |
probably damaging |
Het |
Fscn2 |
T |
C |
11: 120,258,858 (GRCm39) |
Y468H |
probably damaging |
Het |
Gm12689 |
T |
C |
4: 99,184,402 (GRCm39) |
I85T |
unknown |
Het |
Gm4787 |
A |
G |
12: 81,425,102 (GRCm39) |
V352A |
possibly damaging |
Het |
Gtsf1 |
T |
C |
15: 103,336,802 (GRCm39) |
Q13R |
probably benign |
Het |
Jmjd1c |
T |
A |
10: 67,053,928 (GRCm39) |
S263T |
probably damaging |
Het |
Krba1 |
T |
G |
6: 48,390,429 (GRCm39) |
L736R |
probably damaging |
Het |
Lrrc8d |
C |
G |
5: 105,960,650 (GRCm39) |
F353L |
probably damaging |
Het |
Lrrc8d |
G |
A |
5: 105,960,651 (GRCm39) |
E354K |
probably benign |
Het |
Mtor |
T |
A |
4: 148,630,901 (GRCm39) |
V2286E |
probably damaging |
Het |
Mybbp1a |
T |
A |
11: 72,341,462 (GRCm39) |
V1100E |
possibly damaging |
Het |
Myo5a |
G |
A |
9: 75,061,048 (GRCm39) |
G518D |
probably damaging |
Het |
Nalcn |
A |
T |
14: 123,521,123 (GRCm39) |
I1594N |
probably benign |
Het |
Nav1 |
C |
G |
1: 135,398,299 (GRCm39) |
G761A |
probably benign |
Het |
Ncoa2 |
A |
T |
1: 13,251,445 (GRCm39) |
L276H |
probably damaging |
Het |
Ndufaf7 |
T |
C |
17: 79,245,051 (GRCm39) |
Y57H |
probably damaging |
Het |
Nfkb2 |
A |
G |
19: 46,299,847 (GRCm39) |
Y807C |
probably damaging |
Het |
Nid2 |
A |
T |
14: 19,852,535 (GRCm39) |
Q1081L |
probably damaging |
Het |
Nkain2 |
T |
A |
10: 31,827,189 (GRCm39) |
I134F |
probably damaging |
Het |
Nmu |
A |
C |
5: 76,497,979 (GRCm39) |
S69A |
probably damaging |
Het |
Or4c15b |
A |
T |
2: 89,112,817 (GRCm39) |
I220N |
probably damaging |
Het |
Or5t7 |
T |
C |
2: 86,507,225 (GRCm39) |
I151V |
probably benign |
Het |
Pard3 |
A |
G |
8: 128,153,086 (GRCm39) |
R886G |
probably damaging |
Het |
Pde6b |
G |
T |
5: 108,571,317 (GRCm39) |
Q423H |
probably benign |
Het |
Pip5k1b |
A |
T |
19: 24,327,505 (GRCm39) |
D450E |
probably damaging |
Het |
Plcg1 |
T |
C |
2: 160,595,275 (GRCm39) |
|
probably null |
Het |
Pnpt1 |
T |
C |
11: 29,103,246 (GRCm39) |
S504P |
possibly damaging |
Het |
Pomt2 |
A |
T |
12: 87,175,797 (GRCm39) |
D312E |
probably damaging |
Het |
Ppp1r1b |
T |
C |
11: 98,246,228 (GRCm39) |
L70P |
probably damaging |
Het |
Prr5 |
C |
A |
15: 84,587,096 (GRCm39) |
P282Q |
probably benign |
Het |
Reln |
A |
T |
5: 22,176,883 (GRCm39) |
W1928R |
possibly damaging |
Het |
Sacm1l |
A |
T |
9: 123,415,419 (GRCm39) |
R465* |
probably null |
Het |
Sema7a |
A |
G |
9: 57,863,046 (GRCm39) |
Y239C |
probably damaging |
Het |
Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
Svep1 |
T |
C |
4: 58,044,054 (GRCm39) |
T3531A |
possibly damaging |
Het |
Tjp1 |
A |
T |
7: 65,004,609 (GRCm39) |
W19R |
probably damaging |
Het |
Tmc2 |
T |
A |
2: 130,083,564 (GRCm39) |
M507K |
possibly damaging |
Het |
Unc13a |
A |
G |
8: 72,095,795 (GRCm39) |
Y1241H |
probably damaging |
Het |
Upp1 |
C |
T |
11: 9,081,771 (GRCm39) |
P103S |
probably damaging |
Het |
Vldlr |
A |
G |
19: 27,221,624 (GRCm39) |
E663G |
probably damaging |
Het |
Vmn2r68 |
G |
A |
7: 84,886,767 (GRCm39) |
T49I |
possibly damaging |
Het |
Xirp2 |
A |
T |
2: 67,335,465 (GRCm39) |
M95L |
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TTCTAAGGGACTGTTACAAGGTG -3'
(R):5'- TCGAGGAGAAGAGGCTCTTG -3'
Sequencing Primer
(F):5'- TTACAAGGTGACGGGGTCC -3'
(R):5'- CTCTTGGCAGAGTGGGGC -3'
|
Posted On |
2016-11-08 |