Incidental Mutation 'R0471:Itpkb'
| ID |
46733 |
| 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 |
038671-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.814)
|
| Stock # |
R0471 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
180158050-180252367 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 180245820 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 779
(E779G)
|
| 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: E779G
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000069851
Gene: ENSMUSG00000038855
AA Change: E779G
| 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 |
|
| Meta Mutation Damage Score |
0.2953 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
100% (67/67) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp6 |
T |
C |
3: 97,075,891 (GRCm39) |
|
probably null |
Het |
| Adam33 |
C |
A |
2: 130,896,399 (GRCm39) |
G437C |
probably damaging |
Het |
| Aldh1a1 |
T |
A |
19: 20,579,377 (GRCm39) |
M1K |
probably null |
Het |
| Amotl2 |
C |
A |
9: 102,597,718 (GRCm39) |
P126Q |
probably damaging |
Het |
| Ap1g1 |
T |
A |
8: 110,580,275 (GRCm39) |
M576K |
possibly damaging |
Het |
| Apob |
C |
A |
12: 8,040,406 (GRCm39) |
A581E |
probably damaging |
Het |
| Asb7 |
A |
T |
7: 66,328,907 (GRCm39) |
D44E |
probably damaging |
Het |
| Bcl2 |
G |
A |
1: 106,640,292 (GRCm39) |
R107C |
probably damaging |
Het |
| C9orf72 |
G |
A |
4: 35,193,257 (GRCm39) |
T232I |
probably benign |
Het |
| Ccdc65 |
A |
T |
15: 98,615,348 (GRCm39) |
H118L |
probably benign |
Het |
| Cdc25b |
A |
G |
2: 131,039,204 (GRCm39) |
E523G |
probably damaging |
Het |
| Cdk11b |
A |
G |
4: 155,731,999 (GRCm39) |
|
probably benign |
Het |
| Cilk1 |
G |
T |
9: 78,062,799 (GRCm39) |
|
probably null |
Het |
| Clec1b |
A |
G |
6: 129,378,570 (GRCm39) |
|
probably benign |
Het |
| Cntrl |
A |
G |
2: 35,017,392 (GRCm39) |
T400A |
probably benign |
Het |
| Cpne4 |
T |
G |
9: 104,899,481 (GRCm39) |
|
probably null |
Het |
| Cyp2j6 |
T |
A |
4: 96,419,985 (GRCm39) |
R249* |
probably null |
Het |
| Dock2 |
T |
C |
11: 34,579,380 (GRCm39) |
I678V |
probably benign |
Het |
| Dqx1 |
C |
T |
6: 83,036,407 (GRCm39) |
|
probably benign |
Het |
| Dsp |
A |
T |
13: 38,377,326 (GRCm39) |
K1704* |
probably null |
Het |
| Eif2b2 |
T |
C |
12: 85,266,957 (GRCm39) |
F121S |
probably benign |
Het |
| Ephx4 |
T |
C |
5: 107,561,379 (GRCm39) |
V69A |
possibly damaging |
Het |
| Epn2 |
T |
C |
11: 61,426,134 (GRCm39) |
Q281R |
probably damaging |
Het |
| Fgf3 |
A |
C |
7: 144,396,547 (GRCm39) |
D187A |
probably damaging |
Het |
| Galnt18 |
C |
A |
7: 111,378,506 (GRCm39) |
|
probably benign |
Het |
| Gm4871 |
C |
T |
5: 144,968,402 (GRCm39) |
|
probably benign |
Het |
| Inpp4b |
T |
C |
8: 82,768,528 (GRCm39) |
I679T |
possibly damaging |
Het |
| Itsn1 |
G |
A |
16: 91,696,477 (GRCm39) |
V27M |
probably damaging |
Het |
| Lrp2 |
C |
A |
2: 69,355,578 (GRCm39) |
R422L |
probably damaging |
Het |
| Mmp25 |
G |
A |
17: 23,858,858 (GRCm39) |
A231V |
possibly damaging |
Het |
| Mprip |
T |
C |
11: 59,650,561 (GRCm39) |
S1422P |
probably damaging |
Het |
| Mro |
A |
T |
18: 74,009,860 (GRCm39) |
Q176L |
probably benign |
Het |
| Mrpl12 |
A |
G |
11: 120,379,229 (GRCm39) |
E192G |
probably damaging |
Het |
| Myo5b |
A |
T |
18: 74,862,025 (GRCm39) |
|
probably benign |
Het |
| Ncam2 |
G |
T |
16: 80,997,772 (GRCm39) |
|
probably benign |
Het |
| Nip7 |
T |
C |
8: 107,783,949 (GRCm39) |
L63P |
probably damaging |
Het |
| Nsd3 |
T |
C |
8: 26,138,450 (GRCm39) |
|
probably benign |
Het |
| Nup98 |
A |
T |
7: 101,788,004 (GRCm39) |
V1022D |
probably benign |
Het |
| Or2y1e |
T |
A |
11: 49,218,744 (GRCm39) |
C169S |
probably damaging |
Het |
| Or5d43 |
A |
G |
2: 88,104,559 (GRCm39) |
V278A |
possibly damaging |
Het |
| Or5h22 |
A |
G |
16: 58,894,633 (GRCm39) |
I270T |
probably benign |
Het |
| Or7g28 |
A |
T |
9: 19,272,177 (GRCm39) |
L158* |
probably null |
Het |
| P4ha2 |
T |
C |
11: 54,008,434 (GRCm39) |
Y214H |
possibly damaging |
Het |
| Pacrg |
A |
T |
17: 10,795,407 (GRCm39) |
F184L |
possibly damaging |
Het |
| Parpbp |
T |
A |
10: 87,929,569 (GRCm39) |
R426S |
probably damaging |
Het |
| Pcdhb5 |
T |
A |
18: 37,454,359 (GRCm39) |
Y246* |
probably null |
Het |
| Pik3cg |
T |
A |
12: 32,244,770 (GRCm39) |
T895S |
probably damaging |
Het |
| Prkch |
T |
C |
12: 73,738,426 (GRCm39) |
Y178H |
probably benign |
Het |
| Rusc2 |
G |
T |
4: 43,425,486 (GRCm39) |
R1197L |
probably damaging |
Het |
| Svep1 |
T |
C |
4: 58,054,700 (GRCm39) |
E3296G |
possibly damaging |
Het |
| Svs3a |
A |
G |
2: 164,131,801 (GRCm39) |
K123R |
probably benign |
Het |
| Sycp2l |
A |
G |
13: 41,304,006 (GRCm39) |
|
probably null |
Het |
| Syne3 |
T |
C |
12: 104,909,685 (GRCm39) |
H717R |
probably benign |
Het |
| Tiprl |
A |
G |
1: 165,050,092 (GRCm39) |
|
probably null |
Het |
| Trim24 |
T |
G |
6: 37,892,130 (GRCm39) |
V151G |
possibly damaging |
Het |
| Trim33 |
T |
C |
3: 103,234,217 (GRCm39) |
V56A |
possibly damaging |
Het |
| Trim67 |
C |
A |
8: 125,521,397 (GRCm39) |
T253K |
probably benign |
Het |
| Trip12 |
T |
C |
1: 84,703,928 (GRCm39) |
E698G |
probably damaging |
Het |
| Tspan14 |
T |
C |
14: 40,637,353 (GRCm39) |
D145G |
probably damaging |
Het |
| Ushbp1 |
G |
A |
8: 71,847,021 (GRCm39) |
Q204* |
probably null |
Het |
| Vmn1r71 |
G |
C |
7: 10,482,019 (GRCm39) |
S223C |
possibly damaging |
Het |
| Vmn2r75 |
G |
T |
7: 85,814,721 (GRCm39) |
N257K |
probably benign |
Het |
| Washc4 |
T |
C |
10: 83,394,598 (GRCm39) |
|
probably benign |
Het |
| Zc3h7b |
G |
A |
15: 81,666,169 (GRCm39) |
D560N |
probably damaging |
Het |
| Zscan21 |
T |
C |
5: 138,123,402 (GRCm39) |
V27A |
probably benign |
Het |
| Zzef1 |
A |
C |
11: 72,813,937 (GRCm39) |
E2842A |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCCTGAGTCAAAGCACAGCC -3'
(R):5'- CTGCACCTCACTAGCATGAGTCAAC -3'
Sequencing Primer
(F):5'- GCACAGCCAACTCAGGG -3'
(R):5'- CCCTGTGGCAAGTCTATAAGC -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation