Incidental Mutation 'R9168:Itpkb'
| ID |
696155 |
| 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: 0.814)
|
| Stock # |
R9168 (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 C
at 180160028 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 51
(R51S)
|
| 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: R51S
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000069851
Gene: ENSMUSG00000038855
AA Change: R51S
| 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: 100.0%
- 10x: 99.9%
- 20x: 99.6%
|
| Validation Efficiency |
97% (67/69) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alppl2 |
T |
C |
1: 87,015,050 (GRCm39) |
Y437C |
probably damaging |
Het |
| Arhgef11 |
T |
G |
3: 87,633,790 (GRCm39) |
L808R |
probably damaging |
Het |
| Armc7 |
G |
A |
11: 115,366,724 (GRCm39) |
|
probably benign |
Het |
| Ascl1 |
T |
C |
10: 87,328,361 (GRCm39) |
N197S |
probably benign |
Het |
| Cdc42bpb |
T |
G |
12: 111,286,517 (GRCm39) |
E630D |
possibly damaging |
Het |
| Cep128 |
T |
C |
12: 91,233,794 (GRCm39) |
I425V |
probably damaging |
Het |
| Ces4a |
T |
A |
8: 105,876,050 (GRCm39) |
D530E |
probably benign |
Het |
| Ch25h |
T |
C |
19: 34,451,905 (GRCm39) |
I208V |
probably benign |
Het |
| Cnpy3 |
A |
C |
17: 47,063,019 (GRCm39) |
C11G |
unknown |
Het |
| Col12a1 |
A |
C |
9: 79,548,783 (GRCm39) |
Y2187* |
probably null |
Het |
| Cyp2c40 |
C |
T |
19: 39,755,819 (GRCm39) |
M498I |
probably benign |
Het |
| D630039A03Rik |
T |
A |
4: 57,910,113 (GRCm39) |
Y233F |
probably damaging |
Het |
| Dffa |
A |
T |
4: 149,192,226 (GRCm39) |
D100V |
probably damaging |
Het |
| Dock7 |
A |
T |
4: 98,953,643 (GRCm39) |
M363K |
|
Het |
| Dscam |
A |
G |
16: 96,420,768 (GRCm39) |
V1706A |
possibly damaging |
Het |
| En1 |
A |
G |
1: 120,530,892 (GRCm39) |
D44G |
unknown |
Het |
| Enpp4 |
T |
A |
17: 44,413,141 (GRCm39) |
N131I |
probably damaging |
Het |
| Ezh1 |
T |
C |
11: 101,086,433 (GRCm39) |
D587G |
probably damaging |
Het |
| Gm21149 |
G |
T |
5: 15,677,132 (GRCm39) |
H241N |
possibly damaging |
Het |
| Gna15 |
T |
C |
10: 81,350,192 (GRCm39) |
Y70C |
probably damaging |
Het |
| Gucy1a1 |
T |
G |
3: 82,009,353 (GRCm39) |
M552L |
probably damaging |
Het |
| Herc2 |
G |
A |
7: 55,802,208 (GRCm39) |
V2017M |
probably damaging |
Het |
| Hsf4 |
C |
T |
8: 105,999,373 (GRCm39) |
A297V |
probably benign |
Het |
| Ighd |
T |
A |
12: 113,379,203 (GRCm39) |
T122S |
|
Het |
| Iqca1 |
C |
T |
1: 90,065,937 (GRCm39) |
R218Q |
probably damaging |
Het |
| Isl2 |
C |
A |
9: 55,452,227 (GRCm39) |
S266R |
probably benign |
Het |
| Jup |
A |
T |
11: 100,274,219 (GRCm39) |
|
probably null |
Het |
| Kbtbd6 |
T |
C |
14: 79,690,553 (GRCm39) |
V416A |
possibly damaging |
Het |
| Klhl22 |
T |
A |
16: 17,602,068 (GRCm39) |
Y372N |
probably damaging |
Het |
| Klrc3 |
T |
C |
6: 129,616,142 (GRCm39) |
E191G |
probably damaging |
Het |
| Lhx5 |
A |
G |
5: 120,570,410 (GRCm39) |
D22G |
probably benign |
Het |
| Marchf9 |
GGGCGGCGGCGGCGGCG |
GGGCGGCGGCGGCG |
10: 126,895,360 (GRCm39) |
|
probably benign |
Het |
| Mbtps1 |
A |
G |
8: 120,248,602 (GRCm39) |
I707T |
probably benign |
Het |
| Nbeal1 |
T |
A |
1: 60,331,047 (GRCm39) |
Y2219N |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,085,696 (GRCm39) |
I5513T |
probably damaging |
Het |
| Nkx1-1 |
C |
T |
5: 33,591,131 (GRCm39) |
V64M |
unknown |
Het |
| Nme4 |
G |
T |
17: 26,314,389 (GRCm39) |
A13E |
probably benign |
Het |
| Or2g25 |
T |
C |
17: 37,971,047 (GRCm39) |
Y59C |
probably damaging |
Het |
| Or52e18 |
A |
G |
7: 104,609,001 (GRCm39) |
*313R |
probably null |
Het |
| Or7e173 |
T |
C |
9: 19,938,818 (GRCm39) |
M139V |
probably benign |
Het |
| Osbpl3 |
A |
T |
6: 50,329,762 (GRCm39) |
|
probably null |
Het |
| Phc3 |
T |
A |
3: 30,961,544 (GRCm39) |
M963L |
probably benign |
Het |
| Phf20 |
C |
T |
2: 156,109,234 (GRCm39) |
P194S |
probably benign |
Het |
| Pou1f1 |
C |
T |
16: 65,317,427 (GRCm39) |
|
probably benign |
Het |
| Pramel46 |
T |
A |
5: 95,418,133 (GRCm39) |
M288L |
probably benign |
Het |
| Prdm13 |
C |
G |
4: 21,679,659 (GRCm39) |
R277P |
unknown |
Het |
| Prelid1 |
A |
G |
13: 55,470,010 (GRCm39) |
K3R |
possibly damaging |
Het |
| Psd |
C |
A |
19: 46,309,233 (GRCm39) |
D575Y |
probably damaging |
Het |
| Ptger3 |
C |
A |
3: 157,273,424 (GRCm39) |
T257K |
probably damaging |
Het |
| Pth1r |
T |
C |
9: 110,556,204 (GRCm39) |
H223R |
probably benign |
Het |
| Ptk2b |
C |
T |
14: 66,424,899 (GRCm39) |
E182K |
probably damaging |
Het |
| Ptprj |
T |
C |
2: 90,294,916 (GRCm39) |
T431A |
possibly damaging |
Het |
| Rbbp5 |
T |
A |
1: 132,417,464 (GRCm39) |
D119E |
probably benign |
Het |
| Rest |
GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC |
GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC |
5: 77,429,651 (GRCm39) |
|
probably benign |
Het |
| Rinl |
T |
G |
7: 28,490,084 (GRCm39) |
L41R |
possibly damaging |
Het |
| Rrp12 |
A |
G |
19: 41,865,603 (GRCm39) |
V730A |
probably benign |
Het |
| Saraf |
G |
T |
8: 34,632,343 (GRCm39) |
V141L |
possibly damaging |
Het |
| Slc6a13 |
T |
C |
6: 121,302,042 (GRCm39) |
L208P |
probably damaging |
Het |
| Slc9a9 |
C |
A |
9: 94,595,000 (GRCm39) |
T170K |
probably damaging |
Het |
| Spata31f1e |
T |
C |
4: 42,793,380 (GRCm39) |
T251A |
probably benign |
Het |
| Stk33 |
T |
C |
7: 108,928,747 (GRCm39) |
N255S |
probably damaging |
Het |
| Tenm2 |
C |
T |
11: 35,930,722 (GRCm39) |
V1769M |
probably damaging |
Het |
| Themis |
C |
A |
10: 28,658,233 (GRCm39) |
T420N |
probably benign |
Het |
| Tmem116 |
T |
C |
5: 121,605,975 (GRCm39) |
V109A |
|
Het |
| Tnfaip2 |
T |
A |
12: 111,411,382 (GRCm39) |
L2Q |
probably damaging |
Het |
| Trub1 |
T |
C |
19: 57,452,859 (GRCm39) |
|
probably null |
Het |
| Ttn |
C |
T |
2: 76,679,260 (GRCm39) |
V10821I |
unknown |
Het |
| Ube2j1 |
C |
A |
4: 33,045,111 (GRCm39) |
A197D |
probably benign |
Het |
| Vmn2r101 |
T |
A |
17: 19,809,138 (GRCm39) |
I89N |
probably damaging |
Het |
| Wfikkn1 |
T |
C |
17: 26,097,145 (GRCm39) |
Y393C |
probably damaging |
Het |
| Zfp729b |
C |
A |
13: 67,741,942 (GRCm39) |
E108* |
probably null |
Het |
| Zfp976 |
A |
T |
7: 42,263,011 (GRCm39) |
C276* |
probably null |
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 |
|
|
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'- CGCGAAATCGTTTATGGAGCTTG -3'
(R):5'- AGAATCCGCAGCTTCCTCTG -3'
Sequencing Primer
(F):5'- TAGGCCATGCTGCTCCATCAG -3'
(R):5'- GCAGCTTCCTCTGGGCCTC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation