Incidental Mutation 'R8690:Itpkb'
| ID |
668280 |
| 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 |
068544-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.816)
|
| Stock # |
R8690 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
180158050-180252367 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 180249346 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 907
(Q907L)
|
| 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: Q907L
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000069851
Gene: ENSMUSG00000038855
AA Change: Q907L
| 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 |
0.1237 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (73/73) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700097O09Rik |
T |
A |
12: 55,107,957 (GRCm39) |
T81S |
possibly damaging |
Het |
| Ablim2 |
C |
T |
5: 36,030,518 (GRCm39) |
A581V |
possibly damaging |
Het |
| Acbd5 |
T |
A |
2: 22,979,710 (GRCm39) |
S210T |
probably benign |
Het |
| Adam10 |
T |
A |
9: 70,655,505 (GRCm39) |
F324L |
probably damaging |
Het |
| Ak6 |
A |
G |
13: 100,791,857 (GRCm39) |
N100S |
possibly damaging |
Het |
| Angptl3 |
G |
T |
4: 98,925,759 (GRCm39) |
V362L |
probably benign |
Het |
| Ano9 |
C |
A |
7: 140,684,220 (GRCm39) |
W514L |
probably benign |
Het |
| Asb8 |
T |
C |
15: 98,034,108 (GRCm39) |
Y149C |
probably damaging |
Het |
| Bcl6b |
C |
A |
11: 70,117,447 (GRCm39) |
A392S |
probably damaging |
Het |
| Cad |
T |
A |
5: 31,232,500 (GRCm39) |
I1855N |
possibly damaging |
Het |
| Calm5 |
G |
A |
13: 3,904,277 (GRCm39) |
G4R |
probably damaging |
Het |
| Carm1 |
T |
C |
9: 21,480,808 (GRCm39) |
V94A |
probably damaging |
Het |
| Ccnl1 |
A |
T |
3: 65,855,165 (GRCm39) |
S399R |
possibly damaging |
Het |
| Cdh17 |
T |
A |
4: 11,783,163 (GRCm39) |
I168N |
probably benign |
Het |
| Ces2g |
C |
T |
8: 105,693,605 (GRCm39) |
R429C |
probably benign |
Het |
| Chd3 |
T |
C |
11: 69,246,648 (GRCm39) |
|
probably benign |
Het |
| Cmtr2 |
T |
A |
8: 110,948,977 (GRCm39) |
M429K |
probably benign |
Het |
| Cnga1 |
T |
G |
5: 72,761,835 (GRCm39) |
I560L |
probably benign |
Het |
| Col6a5 |
A |
G |
9: 105,759,796 (GRCm39) |
Y1975H |
probably damaging |
Het |
| Copb1 |
T |
C |
7: 113,849,463 (GRCm39) |
I47V |
probably benign |
Het |
| Crbn |
G |
A |
6: 106,777,010 (GRCm39) |
|
probably benign |
Het |
| Ddx41 |
A |
G |
13: 55,680,939 (GRCm39) |
L324P |
probably damaging |
Het |
| Dhx57 |
A |
G |
17: 80,577,794 (GRCm39) |
|
probably benign |
Het |
| Dlgap2 |
A |
T |
8: 14,793,430 (GRCm39) |
I475F |
probably benign |
Het |
| Dock2 |
T |
A |
11: 34,618,287 (GRCm39) |
K110* |
probably null |
Het |
| Dpp7 |
T |
C |
2: 25,245,645 (GRCm39) |
D147G |
probably damaging |
Het |
| Dync2h1 |
G |
T |
9: 7,075,824 (GRCm39) |
D3014E |
probably damaging |
Het |
| Efcab5 |
A |
T |
11: 76,994,115 (GRCm39) |
F1291I |
probably damaging |
Het |
| Endov |
T |
A |
11: 119,382,736 (GRCm39) |
V61D |
probably benign |
Het |
| Etv3 |
C |
A |
3: 87,443,786 (GRCm39) |
P457T |
possibly damaging |
Het |
| Fam185a |
T |
A |
5: 21,638,766 (GRCm39) |
H199Q |
probably benign |
Het |
| Fat3 |
T |
A |
9: 15,878,397 (GRCm39) |
E3361D |
probably benign |
Het |
| Fbn1 |
T |
C |
2: 125,186,015 (GRCm39) |
|
probably benign |
Het |
| Gm17079 |
A |
T |
14: 51,932,787 (GRCm39) |
W37R |
|
Het |
| Gpr68 |
T |
C |
12: 100,845,292 (GRCm39) |
H84R |
probably benign |
Het |
| Gramd1b |
A |
T |
9: 40,215,674 (GRCm39) |
S725R |
probably damaging |
Het |
| Greb1 |
T |
A |
12: 16,746,548 (GRCm39) |
T1241S |
probably benign |
Het |
| Hcn4 |
T |
C |
9: 58,751,193 (GRCm39) |
M273T |
probably benign |
Het |
| Hdlbp |
A |
G |
1: 93,341,640 (GRCm39) |
V973A |
probably damaging |
Het |
| Ighv8-11 |
A |
T |
12: 115,531,164 (GRCm39) |
|
probably benign |
Het |
| Lmo7 |
T |
A |
14: 102,168,644 (GRCm39) |
N1634K |
unknown |
Het |
| Lrrk1 |
C |
A |
7: 65,952,477 (GRCm39) |
L486F |
probably benign |
Het |
| Mdfic |
G |
A |
6: 15,799,653 (GRCm39) |
C260Y |
probably damaging |
Het |
| Mdh2 |
T |
C |
5: 135,814,882 (GRCm39) |
I140T |
probably benign |
Het |
| Myo9a |
T |
C |
9: 59,782,657 (GRCm39) |
V1775A |
probably benign |
Het |
| Or1j14 |
T |
C |
2: 36,418,207 (GRCm39) |
V261A |
probably benign |
Het |
| Or51d1 |
C |
A |
7: 102,348,028 (GRCm39) |
D194E |
probably damaging |
Het |
| Or52n3 |
T |
C |
7: 104,530,762 (GRCm39) |
Y283H |
probably damaging |
Het |
| P2rx2 |
C |
T |
5: 110,490,380 (GRCm39) |
V112I |
probably damaging |
Het |
| Psme4 |
T |
A |
11: 30,787,319 (GRCm39) |
V1038E |
probably benign |
Het |
| Rab25 |
T |
A |
3: 88,452,388 (GRCm39) |
R73S |
probably damaging |
Het |
| Rab8a |
TA |
TAA |
8: 72,925,130 (GRCm39) |
|
probably null |
Het |
| Rnf213 |
T |
C |
11: 119,308,955 (GRCm39) |
Y729H |
|
Het |
| Rnf213 |
A |
G |
11: 119,332,038 (GRCm39) |
T2417A |
|
Het |
| Rnft2 |
C |
A |
5: 118,366,935 (GRCm39) |
A268S |
probably benign |
Het |
| Samhd1 |
T |
C |
2: 156,971,794 (GRCm39) |
D116G |
probably benign |
Het |
| Sema6d |
T |
A |
2: 124,506,937 (GRCm39) |
V915E |
probably benign |
Het |
| Sp140l2 |
G |
A |
1: 85,235,170 (GRCm39) |
H130Y |
probably benign |
Het |
| Srcin1 |
C |
A |
11: 97,414,368 (GRCm39) |
R1045L |
probably damaging |
Het |
| St18 |
T |
A |
1: 6,872,788 (GRCm39) |
N174K |
probably benign |
Het |
| Stac3 |
G |
A |
10: 127,339,494 (GRCm39) |
C130Y |
probably damaging |
Het |
| Stum |
G |
C |
1: 180,310,740 (GRCm39) |
P52R |
probably damaging |
Het |
| Tbc1d2 |
C |
T |
4: 46,615,106 (GRCm39) |
E526K |
possibly damaging |
Het |
| Tiam1 |
A |
G |
16: 89,694,900 (GRCm39) |
S186P |
probably damaging |
Het |
| Tiparp |
G |
C |
3: 65,460,963 (GRCm39) |
V651L |
probably benign |
Het |
| Tmem19 |
C |
T |
10: 115,179,765 (GRCm39) |
G244S |
probably damaging |
Het |
| Trip11 |
A |
T |
12: 101,839,656 (GRCm39) |
V1658D |
possibly damaging |
Het |
| Ttyh3 |
A |
C |
5: 140,612,944 (GRCm39) |
Y453D |
probably damaging |
Het |
| Ttyh3 |
G |
T |
5: 140,612,945 (GRCm39) |
S452R |
probably benign |
Het |
| Ube2h |
C |
T |
6: 30,262,338 (GRCm39) |
|
probably benign |
Het |
| Zbtb4 |
T |
C |
11: 69,667,618 (GRCm39) |
S308P |
probably damaging |
Het |
| Zfyve1 |
T |
C |
12: 83,597,681 (GRCm39) |
E672G |
probably damaging |
Het |
| Zswim5 |
G |
A |
4: 116,842,002 (GRCm39) |
D861N |
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 |
|
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'- TGCCTCTTAAATACCTGGGCAC -3'
(R):5'- TTCTAGGTAGGCGCTCAGAC -3'
Sequencing Primer
(F):5'- TAACCCCGATGTCCTCCAGG -3'
(R):5'- TAGGCGCTCAGACAGGAAAAG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation