Incidental Mutation 'IGL01965:Itpkb'
| ID |
182504 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Itpkb
|
| Ensembl Gene |
ENSMUSG00000038855 |
| Gene Name |
inositol 1,4,5-trisphosphate 3-kinase B |
| Synonyms |
1110033J02Rik, E130307H12Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.814)
|
| Stock # |
IGL01965
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
180158050-180252367 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 180159970 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 32
(T32K)
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000050581
|
| SMART Domains |
Protein: ENSMUSP00000050698
Gene: ENSMUSG00000055676
| Domain | Start | End | E-Value | Type |
|---|
|
Gp_dh_N
|
2 |
154 |
5.53e-95 |
SMART |
|
Pfam:Gp_dh_C
|
159 |
316 |
5.8e-70 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000070181
AA Change: T32K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000069851
Gene: ENSMUSG00000038855
AA Change: T32K
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192714
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195043
|
| Coding Region Coverage |
|
| 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 |
|---|
| 4933411G06Rik |
T |
A |
10: 51,633,078 (GRCm39) |
|
noncoding transcript |
Het |
| Adm |
C |
T |
7: 110,227,832 (GRCm39) |
L67F |
probably benign |
Het |
| Bcl10 |
C |
T |
3: 145,638,939 (GRCm39) |
R194* |
probably null |
Het |
| Brat1 |
T |
C |
5: 140,703,811 (GRCm39) |
V688A |
probably benign |
Het |
| Cep57 |
T |
A |
9: 13,732,816 (GRCm39) |
|
probably benign |
Het |
| Dhx57 |
G |
A |
17: 80,576,279 (GRCm39) |
R604W |
probably damaging |
Het |
| Fndc3a |
A |
G |
14: 72,777,842 (GRCm39) |
I1121T |
probably benign |
Het |
| Fry |
A |
G |
5: 150,305,086 (GRCm39) |
E597G |
probably damaging |
Het |
| Gabra2 |
A |
G |
5: 71,165,418 (GRCm39) |
|
probably benign |
Het |
| Golgb1 |
A |
G |
16: 36,738,282 (GRCm39) |
D2207G |
probably damaging |
Het |
| Htr4 |
T |
A |
18: 62,570,740 (GRCm39) |
M265K |
probably damaging |
Het |
| Igf2r |
C |
T |
17: 12,923,225 (GRCm39) |
V1195M |
probably benign |
Het |
| Itga2 |
C |
A |
13: 114,984,600 (GRCm39) |
|
probably benign |
Het |
| Itih3 |
T |
C |
14: 30,637,677 (GRCm39) |
H494R |
probably damaging |
Het |
| Kif16b |
A |
T |
2: 142,690,325 (GRCm39) |
D252E |
probably damaging |
Het |
| Klhl33 |
A |
G |
14: 51,129,187 (GRCm39) |
Y681H |
probably damaging |
Het |
| Lats1 |
T |
A |
10: 7,577,470 (GRCm39) |
V198E |
probably benign |
Het |
| Me3 |
A |
G |
7: 89,500,951 (GRCm39) |
D554G |
probably benign |
Het |
| Mindy4 |
C |
T |
6: 55,237,517 (GRCm39) |
|
probably benign |
Het |
| Nipa2 |
G |
A |
7: 55,594,371 (GRCm39) |
|
probably benign |
Het |
| Or4c116 |
G |
A |
2: 88,942,535 (GRCm39) |
T107I |
probably benign |
Het |
| Or52r1 |
T |
C |
7: 102,536,814 (GRCm39) |
E182G |
probably damaging |
Het |
| Or5d14 |
A |
G |
2: 87,880,780 (GRCm39) |
F63L |
probably benign |
Het |
| Or8b51 |
A |
T |
9: 38,568,918 (GRCm39) |
F257I |
probably benign |
Het |
| Ptgis |
A |
T |
2: 167,050,173 (GRCm39) |
W319R |
probably benign |
Het |
| Pygl |
C |
T |
12: 70,237,888 (GRCm39) |
A717T |
probably benign |
Het |
| Rbbp8 |
A |
T |
18: 11,855,317 (GRCm39) |
K514I |
probably benign |
Het |
| Scn9a |
A |
T |
2: 66,314,777 (GRCm39) |
L1636H |
probably damaging |
Het |
| Serpina3j |
A |
G |
12: 104,281,063 (GRCm39) |
T79A |
probably benign |
Het |
| Sfxn4 |
A |
G |
19: 60,847,182 (GRCm39) |
|
probably benign |
Het |
| Shc2 |
T |
A |
10: 79,463,023 (GRCm39) |
|
probably benign |
Het |
| Sim2 |
A |
T |
16: 93,922,037 (GRCm39) |
Y294F |
probably benign |
Het |
| Tep1 |
A |
G |
14: 51,100,952 (GRCm39) |
|
probably benign |
Het |
| Ubr1 |
A |
G |
2: 120,705,879 (GRCm39) |
L1528P |
probably damaging |
Het |
| Usp53 |
A |
G |
3: 122,754,802 (GRCm39) |
|
probably null |
Het |
| Vmn2r87 |
G |
T |
10: 130,314,924 (GRCm39) |
L221I |
possibly 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 |
|
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 |
|
|
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 |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation