Incidental Mutation 'R3792:Itpkb'
ID |
272566 |
Institutional Source |
Beutler Lab
|
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: 0.816)
|
Stock # |
R3792 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
180158050-180252367 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 180160738 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 288
(L288Q)
|
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 |
possibly damaging
Transcript: ENSMUST00000070181
AA Change: L288Q
PolyPhen 2
Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000069851 Gene: ENSMUSG00000038855 AA Change: L288Q
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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930595M18Rik |
A |
G |
X: 80,464,423 (GRCm39) |
V428A |
probably benign |
Het |
Aanat |
T |
C |
11: 116,487,057 (GRCm39) |
L88P |
probably damaging |
Het |
Arhgap5 |
A |
T |
12: 52,566,671 (GRCm39) |
N1214I |
probably benign |
Het |
BC034090 |
A |
T |
1: 155,117,543 (GRCm39) |
S192T |
probably damaging |
Het |
Bco1 |
G |
A |
8: 117,857,415 (GRCm39) |
V461I |
possibly damaging |
Het |
Cass4 |
C |
T |
2: 172,274,478 (GRCm39) |
P753L |
probably damaging |
Het |
Cripto |
C |
T |
9: 110,772,258 (GRCm39) |
R46Q |
probably benign |
Het |
Cubn |
G |
A |
2: 13,432,725 (GRCm39) |
R1199C |
probably damaging |
Het |
Dcaf12l1 |
T |
C |
X: 43,877,313 (GRCm39) |
N495S |
possibly damaging |
Het |
Dop1b |
C |
A |
16: 93,568,734 (GRCm39) |
Q1599K |
possibly damaging |
Het |
Dyrk1a |
C |
A |
16: 94,485,933 (GRCm39) |
L427I |
probably benign |
Het |
Esp16 |
T |
C |
17: 39,848,739 (GRCm39) |
I11T |
possibly damaging |
Het |
Esyt3 |
A |
T |
9: 99,197,334 (GRCm39) |
F832Y |
possibly damaging |
Het |
F8 |
A |
T |
X: 74,328,971 (GRCm39) |
|
probably null |
Het |
Fam135a |
T |
C |
1: 24,067,392 (GRCm39) |
Y259C |
probably benign |
Het |
Fbxo38 |
T |
C |
18: 62,666,533 (GRCm39) |
|
probably null |
Het |
Fbxo43 |
T |
C |
15: 36,163,005 (GRCm39) |
I67M |
probably benign |
Het |
Gcfc2 |
G |
T |
6: 81,907,748 (GRCm39) |
C154F |
probably benign |
Het |
Hipk2 |
C |
T |
6: 38,675,491 (GRCm39) |
R1029H |
probably damaging |
Het |
Ilk |
G |
A |
7: 105,391,294 (GRCm39) |
W73* |
probably null |
Het |
Ism1 |
T |
C |
2: 139,582,173 (GRCm39) |
S162P |
probably damaging |
Het |
Itpr2 |
C |
A |
6: 146,316,852 (GRCm39) |
K306N |
probably damaging |
Het |
Kdm2a |
C |
T |
19: 4,374,540 (GRCm39) |
E864K |
possibly damaging |
Het |
Kdm4b |
G |
A |
17: 56,662,944 (GRCm39) |
V172M |
probably damaging |
Het |
Kyat3 |
A |
T |
3: 142,443,605 (GRCm39) |
K406M |
probably null |
Het |
Lipe |
T |
A |
7: 25,097,045 (GRCm39) |
K299N |
possibly damaging |
Het |
Lrrc2 |
T |
A |
9: 110,795,585 (GRCm39) |
C123* |
probably null |
Het |
Mptx2 |
T |
A |
1: 173,102,240 (GRCm39) |
I150F |
probably damaging |
Het |
Mroh2b |
G |
T |
15: 4,953,102 (GRCm39) |
W612L |
probably damaging |
Het |
Mucl2 |
T |
C |
15: 103,928,692 (GRCm39) |
T27A |
possibly damaging |
Het |
Nfx1 |
T |
A |
4: 41,004,357 (GRCm39) |
C709* |
probably null |
Het |
Oprm1 |
T |
C |
10: 6,789,544 (GRCm39) |
S390P |
probably benign |
Het |
Or2m12 |
A |
G |
16: 19,104,696 (GRCm39) |
S266P |
possibly damaging |
Het |
Or51v8 |
A |
T |
7: 103,319,353 (GRCm39) |
I295N |
probably damaging |
Het |
Pcdhb14 |
T |
C |
18: 37,582,715 (GRCm39) |
L607P |
probably damaging |
Het |
Rap1gds1 |
A |
T |
3: 138,671,721 (GRCm39) |
I133N |
probably damaging |
Het |
Rasl10a |
T |
C |
11: 5,009,461 (GRCm39) |
L83S |
probably damaging |
Het |
Satb2 |
C |
T |
1: 56,884,779 (GRCm39) |
V382M |
probably damaging |
Het |
Sh3gl1 |
T |
C |
17: 56,325,949 (GRCm39) |
K160R |
probably damaging |
Het |
Sirt4 |
T |
C |
5: 115,618,351 (GRCm39) |
D241G |
probably benign |
Het |
Sla2 |
G |
A |
2: 156,717,862 (GRCm39) |
R137C |
probably damaging |
Het |
Spef2 |
A |
G |
15: 9,704,622 (GRCm39) |
I454T |
probably damaging |
Het |
Stag3 |
A |
G |
5: 138,296,611 (GRCm39) |
K490E |
probably benign |
Het |
Tcstv7b |
G |
T |
13: 120,702,467 (GRCm39) |
V88F |
probably damaging |
Het |
Tctn3 |
T |
C |
19: 40,600,155 (GRCm39) |
K95R |
probably benign |
Het |
Trp53bp1 |
T |
C |
2: 121,030,810 (GRCm39) |
I1784V |
probably damaging |
Het |
Ttc21a |
A |
T |
9: 119,783,231 (GRCm39) |
E511V |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,542,232 (GRCm39) |
F25258L |
probably damaging |
Het |
Ttn |
A |
C |
2: 76,639,290 (GRCm39) |
C13828G |
probably damaging |
Het |
Vmn1r210 |
T |
A |
13: 23,011,573 (GRCm39) |
M238L |
probably damaging |
Het |
Vmn1r38 |
A |
G |
6: 66,753,891 (GRCm39) |
I75T |
probably benign |
Het |
Vmn2r84 |
T |
A |
10: 130,221,669 (GRCm39) |
*850C |
probably null |
Het |
Vwa7 |
T |
C |
17: 35,244,135 (GRCm39) |
|
probably null |
Het |
Zfp128 |
T |
A |
7: 12,618,659 (GRCm39) |
D52E |
probably damaging |
Het |
Zfp618 |
T |
C |
4: 63,033,728 (GRCm39) |
|
probably benign |
Het |
Zkscan2 |
T |
A |
7: 123,084,225 (GRCm39) |
E633V |
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 |
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 |
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'- GTCCTGGGGAGAACAATGTAC -3'
(R):5'- TCTCCTTGCCCAGAAACTGC -3'
Sequencing Primer
(F):5'- CCAGATACCAACTCTGGAAGGAG -3'
(R):5'- GAAACTGCCCCCGTCTC -3'
|
Posted On |
2015-03-25 |