Incidental Mutation 'R2474:Itpkb'
ID |
253251 |
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 |
040405-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.816)
|
Stock # |
R2474 (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 180161716 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 614
(D614G)
|
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: D614G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000069851 Gene: ENSMUSG00000038855 AA Change: D614G
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: ENSMUST00000195043
|
Meta Mutation Damage Score |
0.4097 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 94.9%
|
Validation Efficiency |
100% (32/32) |
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrl4 |
A |
G |
3: 151,248,361 (GRCm39) |
T678A |
probably benign |
Het |
Asb7 |
A |
T |
7: 66,328,901 (GRCm39) |
N46K |
probably damaging |
Het |
Atxn7l2 |
A |
C |
3: 108,111,293 (GRCm39) |
S414R |
probably damaging |
Het |
Bckdk |
C |
A |
7: 127,504,590 (GRCm39) |
R105S |
probably damaging |
Het |
Cxcl13 |
C |
T |
5: 96,107,816 (GRCm39) |
Q91* |
probably null |
Het |
Dchs1 |
T |
C |
7: 105,404,281 (GRCm39) |
N2754D |
probably benign |
Het |
Dchs1 |
A |
T |
7: 105,422,045 (GRCm39) |
V125E |
probably damaging |
Het |
Enpep |
G |
C |
3: 129,077,807 (GRCm39) |
S603R |
possibly damaging |
Het |
Greb1 |
T |
C |
12: 16,764,954 (GRCm39) |
N393S |
possibly damaging |
Het |
Hfm1 |
A |
T |
5: 107,020,282 (GRCm39) |
V1048D |
possibly damaging |
Het |
Ilvbl |
T |
C |
10: 78,412,558 (GRCm39) |
V93A |
probably damaging |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Lgi3 |
G |
A |
14: 70,770,689 (GRCm39) |
|
probably null |
Het |
Mpeg1 |
G |
A |
19: 12,439,613 (GRCm39) |
C357Y |
probably damaging |
Het |
Nedd1 |
A |
G |
10: 92,555,465 (GRCm39) |
F7L |
probably damaging |
Het |
Or8g26 |
A |
G |
9: 39,095,846 (GRCm39) |
D121G |
probably damaging |
Het |
Or8k35 |
C |
A |
2: 86,424,957 (GRCm39) |
V72F |
probably benign |
Het |
Parp8 |
A |
T |
13: 117,029,577 (GRCm39) |
C510S |
possibly damaging |
Het |
Phb1 |
T |
C |
11: 95,562,248 (GRCm39) |
F42L |
possibly damaging |
Het |
Pik3r1 |
A |
T |
13: 101,839,284 (GRCm39) |
Y189* |
probably null |
Het |
Rps5 |
T |
A |
7: 12,660,488 (GRCm39) |
|
probably null |
Het |
Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
Senp3 |
T |
A |
11: 69,564,923 (GRCm39) |
N516Y |
probably damaging |
Het |
Tfap2b |
A |
T |
1: 19,284,599 (GRCm39) |
H169L |
possibly damaging |
Het |
Tmem260 |
A |
G |
14: 48,733,781 (GRCm39) |
D226G |
probably null |
Het |
Ttc6 |
G |
T |
12: 57,622,713 (GRCm39) |
R37S |
probably benign |
Het |
Vmn2r84 |
A |
T |
10: 130,222,392 (GRCm39) |
D609E |
possibly damaging |
Het |
Vmn2r99 |
A |
T |
17: 19,598,891 (GRCm39) |
M192L |
probably benign |
Het |
Zfp746 |
T |
C |
6: 48,041,703 (GRCm39) |
D341G |
probably damaging |
Het |
Zfp941 |
A |
T |
7: 140,391,384 (GRCm39) |
H658Q |
probably damaging |
Het |
Zw10 |
T |
A |
9: 48,978,105 (GRCm39) |
I351N |
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 |
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'- TCCTTAAAAGAGGCCTGCAG -3'
(R):5'- TTGGTAGACCATGCCCACAAC -3'
Sequencing Primer
(F):5'- TGCAGCCCCAGCAACATC -3'
(R):5'- ATTATGACTTTACCAGAGCCCTG -3'
|
Posted On |
2014-12-04 |