Incidental Mutation 'R9203:Itpkb'
| ID |
698297 |
| 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: 0.816)
|
| Stock # |
R9203 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
180158050-180252367 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 180161004 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 377
(W377R)
|
| 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: W377R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000069851
Gene: ENSMUSG00000038855
AA Change: W377R
| 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: 99.8%
- 20x: 99.3%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anapc1 |
T |
C |
2: 128,465,422 (GRCm39) |
H1686R |
possibly damaging |
Het |
| Ankrd33b |
A |
G |
15: 31,298,028 (GRCm39) |
M243T |
probably benign |
Het |
| Appl1 |
G |
T |
14: 26,682,970 (GRCm39) |
S104* |
probably null |
Het |
| Appl2 |
A |
T |
10: 83,476,879 (GRCm39) |
Y48* |
probably null |
Het |
| Cacna1d |
T |
C |
14: 29,773,669 (GRCm39) |
N1694S |
probably benign |
Het |
| Cc2d2a |
G |
T |
5: 43,891,179 (GRCm39) |
D1372Y |
probably benign |
Het |
| Cdh4 |
C |
T |
2: 179,422,196 (GRCm39) |
R107C |
probably damaging |
Het |
| Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
| Cfap54 |
T |
G |
10: 92,880,990 (GRCm39) |
M358L |
probably benign |
Het |
| Csnka2ip |
T |
A |
16: 64,298,630 (GRCm39) |
D578V |
unknown |
Het |
| Ctns |
T |
C |
11: 73,082,563 (GRCm39) |
I56V |
probably benign |
Het |
| Dnah9 |
A |
G |
11: 65,746,113 (GRCm39) |
I4000T |
possibly damaging |
Het |
| Dock2 |
A |
G |
11: 34,622,366 (GRCm39) |
V91A |
possibly damaging |
Het |
| Dpep2 |
T |
C |
8: 106,712,885 (GRCm39) |
H335R |
probably damaging |
Het |
| Eno1 |
C |
T |
4: 150,332,539 (GRCm39) |
R400* |
probably null |
Het |
| Fam114a1 |
C |
A |
5: 65,137,300 (GRCm39) |
P81H |
probably damaging |
Het |
| Gemin6 |
A |
G |
17: 80,535,237 (GRCm39) |
T66A |
probably benign |
Het |
| Grm4 |
T |
C |
17: 27,653,980 (GRCm39) |
I657V |
probably benign |
Het |
| H2ac22 |
T |
C |
13: 21,971,057 (GRCm39) |
N111S |
probably benign |
Het |
| Has3 |
T |
C |
8: 107,600,852 (GRCm39) |
C105R |
probably damaging |
Het |
| Hecw1 |
T |
C |
13: 14,491,243 (GRCm39) |
E170G |
probably benign |
Het |
| Hoxd3 |
T |
C |
2: 74,576,744 (GRCm39) |
V208A |
probably damaging |
Het |
| Hypk |
C |
T |
2: 121,288,163 (GRCm39) |
Q75* |
probably null |
Het |
| Kbtbd2 |
A |
T |
6: 56,755,987 (GRCm39) |
V583E |
probably damaging |
Het |
| Kdm5d |
A |
G |
Y: 940,981 (GRCm39) |
Y1122C |
probably damaging |
Het |
| Kif7 |
A |
C |
7: 79,354,472 (GRCm39) |
L771R |
probably damaging |
Het |
| Krt9 |
C |
G |
11: 100,079,734 (GRCm39) |
G553R |
unknown |
Het |
| Lama3 |
G |
A |
18: 12,595,869 (GRCm39) |
A933T |
probably benign |
Het |
| Muc16 |
A |
G |
9: 18,462,984 (GRCm39) |
I7406T |
unknown |
Het |
| Ndst4 |
C |
T |
3: 125,518,385 (GRCm39) |
S354L |
probably benign |
Het |
| Ntng2 |
G |
T |
2: 29,084,998 (GRCm39) |
C535* |
probably null |
Het |
| Omg |
A |
G |
11: 79,393,051 (GRCm39) |
M269T |
probably benign |
Het |
| Or1x6 |
A |
T |
11: 50,939,161 (GRCm39) |
T76S |
possibly damaging |
Het |
| Or52e3 |
A |
T |
7: 102,869,862 (GRCm39) |
*312C |
probably null |
Het |
| Parp2 |
T |
C |
14: 51,056,850 (GRCm39) |
S325P |
probably benign |
Het |
| Pclo |
C |
T |
5: 14,728,528 (GRCm39) |
T2462M |
unknown |
Het |
| Pi4ka |
G |
T |
16: 17,100,165 (GRCm39) |
H1912N |
|
Het |
| Piezo2 |
T |
C |
18: 63,290,302 (GRCm39) |
I152M |
probably benign |
Het |
| Pigv |
A |
T |
4: 133,392,990 (GRCm39) |
L60Q |
probably damaging |
Het |
| Plcz1 |
T |
A |
6: 139,953,481 (GRCm39) |
K379* |
probably null |
Het |
| Poll |
T |
C |
19: 45,542,091 (GRCm39) |
N405S |
probably benign |
Het |
| Pou6f2 |
T |
A |
13: 18,303,615 (GRCm39) |
I467F |
|
Het |
| Pramel11 |
T |
A |
4: 143,623,646 (GRCm39) |
N176I |
probably benign |
Het |
| Psg26 |
T |
C |
7: 18,212,382 (GRCm39) |
I324M |
probably damaging |
Het |
| Ptprh |
T |
A |
7: 4,574,970 (GRCm39) |
I350F |
probably damaging |
Het |
| Slpi |
C |
T |
2: 164,196,817 (GRCm39) |
V126I |
probably benign |
Het |
| Smarca5 |
C |
T |
8: 81,431,258 (GRCm39) |
W986* |
probably null |
Het |
| Sorcs1 |
A |
G |
19: 50,250,733 (GRCm39) |
I366T |
probably damaging |
Het |
| Sv2c |
G |
T |
13: 96,224,745 (GRCm39) |
S188* |
probably null |
Het |
| Sycp2 |
T |
C |
2: 177,996,906 (GRCm39) |
K1099R |
probably damaging |
Het |
| Tdp2 |
C |
A |
13: 25,020,916 (GRCm39) |
Y178* |
probably null |
Het |
| Trabd2b |
A |
G |
4: 114,460,122 (GRCm39) |
E420G |
probably damaging |
Het |
| Uggt2 |
A |
T |
14: 119,294,975 (GRCm39) |
H550Q |
probably benign |
Het |
| Vmn2r66 |
T |
C |
7: 84,654,950 (GRCm39) |
K453R |
probably benign |
Het |
| Vsig10l |
A |
G |
7: 43,112,657 (GRCm39) |
M1V |
probably null |
Het |
| Wdr70 |
G |
A |
15: 7,902,684 (GRCm39) |
S646L |
probably benign |
Het |
| Zfp219 |
A |
T |
14: 52,246,405 (GRCm39) |
S241T |
probably damaging |
Het |
| Zfp24 |
G |
A |
18: 24,147,326 (GRCm39) |
H329Y |
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 |
|
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 |
|
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'- GATTCTGCCCTCATGGAGAC -3'
(R):5'- GCCATAATGAACGTCTTCCTCC -3'
Sequencing Primer
(F):5'- TGGAGACAGGCTGTGAGCTC -3'
(R):5'- CAGTGCTGGAGAGCCTTC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation