Incidental Mutation 'R5772:Itpkb'
ID |
445422 |
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: 0.814)
|
Stock # |
R5772 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
180158050-180252367 bp(+) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
A to G
at 180161818 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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 benign
Transcript: ENSMUST00000070181
|
SMART Domains |
Protein: ENSMUSP00000069851 Gene: ENSMUSG00000038855
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
98% (64/65) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4932416K20Rik |
G |
A |
8: 105,524,271 (GRCm39) |
|
noncoding transcript |
Het |
Abcg8 |
A |
T |
17: 84,994,127 (GRCm39) |
E48V |
probably damaging |
Het |
Afap1l2 |
T |
C |
19: 56,911,406 (GRCm39) |
T289A |
probably benign |
Het |
Atf6 |
T |
A |
1: 170,574,758 (GRCm39) |
D560V |
probably damaging |
Het |
Bcl2l14 |
A |
T |
6: 134,404,362 (GRCm39) |
K183N |
probably damaging |
Het |
Carmil3 |
T |
C |
14: 55,730,696 (GRCm39) |
L52P |
probably damaging |
Het |
Cct3 |
T |
A |
3: 88,208,274 (GRCm39) |
N61K |
probably damaging |
Het |
Col18a1 |
A |
G |
10: 77,002,177 (GRCm39) |
V10A |
unknown |
Het |
Col26a1 |
G |
A |
5: 136,876,420 (GRCm39) |
Q67* |
probably null |
Het |
Cyp2d34 |
T |
C |
15: 82,501,341 (GRCm39) |
D329G |
probably null |
Het |
Dchs1 |
T |
A |
7: 105,422,247 (GRCm39) |
I58F |
probably damaging |
Het |
Ddx60 |
T |
C |
8: 62,401,931 (GRCm39) |
L269P |
probably damaging |
Het |
Dis3l2 |
G |
A |
1: 86,806,154 (GRCm39) |
G325D |
probably damaging |
Het |
Dync1h1 |
A |
T |
12: 110,612,707 (GRCm39) |
K2861* |
probably null |
Het |
Ednra |
A |
G |
8: 78,401,696 (GRCm39) |
I198T |
possibly damaging |
Het |
Ep300 |
T |
C |
15: 81,524,115 (GRCm39) |
|
probably benign |
Het |
Fam120a |
G |
A |
13: 49,034,409 (GRCm39) |
P1068S |
probably benign |
Het |
Fsip2 |
A |
T |
2: 82,815,084 (GRCm39) |
M3606L |
probably benign |
Het |
Garre1 |
A |
T |
7: 33,953,413 (GRCm39) |
W238R |
probably damaging |
Het |
Gm7713 |
T |
C |
15: 59,866,492 (GRCm39) |
|
noncoding transcript |
Het |
Gprin3 |
A |
T |
6: 59,331,398 (GRCm39) |
V303D |
possibly damaging |
Het |
Hmcn1 |
A |
T |
1: 150,570,629 (GRCm39) |
V2178D |
possibly damaging |
Het |
Hoxa11 |
A |
G |
6: 52,222,380 (GRCm39) |
V107A |
possibly damaging |
Het |
Iqub |
C |
A |
6: 24,454,250 (GRCm39) |
M544I |
possibly damaging |
Het |
Itgb4 |
A |
T |
11: 115,879,258 (GRCm39) |
|
probably benign |
Het |
Kalrn |
A |
T |
16: 33,796,190 (GRCm39) |
V1195E |
probably damaging |
Het |
Kif12 |
C |
A |
4: 63,084,178 (GRCm39) |
R608M |
probably damaging |
Het |
Lcorl |
A |
T |
5: 45,952,709 (GRCm39) |
|
probably null |
Het |
Lrrc24 |
T |
C |
15: 76,606,910 (GRCm39) |
E162G |
probably damaging |
Het |
Med6 |
A |
G |
12: 81,626,418 (GRCm39) |
S119P |
probably damaging |
Het |
Mmab |
A |
C |
5: 114,574,775 (GRCm39) |
L166R |
probably damaging |
Het |
Myef2l |
A |
G |
3: 10,153,566 (GRCm39) |
R112G |
probably damaging |
Het |
Nom1 |
A |
G |
5: 29,651,873 (GRCm39) |
K737R |
possibly damaging |
Het |
Obscn |
T |
C |
11: 58,946,970 (GRCm39) |
S4352G |
probably damaging |
Het |
Or10ag60 |
A |
T |
2: 87,438,517 (GRCm39) |
T262S |
probably benign |
Het |
Or2w25 |
T |
A |
11: 59,504,712 (GRCm39) |
D307E |
probably benign |
Het |
Or4k35 |
A |
T |
2: 111,100,057 (GRCm39) |
Y218* |
probably null |
Het |
Or6d12 |
A |
C |
6: 116,492,912 (GRCm39) |
D58A |
possibly damaging |
Het |
Pdzrn3 |
G |
A |
6: 101,149,275 (GRCm39) |
S351L |
probably benign |
Het |
Pdzrn4 |
A |
T |
15: 92,655,562 (GRCm39) |
E485V |
probably damaging |
Het |
Prkdc |
T |
A |
16: 15,597,252 (GRCm39) |
I2804K |
possibly damaging |
Het |
Psg28 |
A |
G |
7: 18,164,640 (GRCm39) |
L24P |
probably damaging |
Het |
Resp18 |
A |
G |
1: 75,250,644 (GRCm39) |
V145A |
possibly damaging |
Het |
Rgl3 |
T |
C |
9: 21,892,908 (GRCm39) |
M259V |
probably benign |
Het |
Rhot2 |
A |
T |
17: 26,058,781 (GRCm39) |
S540T |
probably benign |
Het |
Ring1 |
T |
C |
17: 34,241,282 (GRCm39) |
Y278C |
possibly damaging |
Het |
Rpn2 |
A |
G |
2: 157,137,265 (GRCm39) |
Y216C |
probably damaging |
Het |
Scgb2b18 |
G |
A |
7: 32,873,255 (GRCm39) |
L5F |
unknown |
Het |
Slamf7 |
T |
C |
1: 171,466,838 (GRCm39) |
|
probably null |
Het |
Slc22a12 |
T |
C |
19: 6,590,479 (GRCm39) |
N237S |
possibly damaging |
Het |
Spen |
A |
T |
4: 141,205,495 (GRCm39) |
V1044D |
unknown |
Het |
Sqor |
A |
T |
2: 122,651,261 (GRCm39) |
M175L |
probably benign |
Het |
Stx16 |
G |
A |
2: 173,935,292 (GRCm39) |
G156R |
probably damaging |
Het |
Tars3 |
T |
G |
7: 65,333,873 (GRCm39) |
F632V |
probably damaging |
Het |
Tln1 |
A |
G |
4: 43,545,191 (GRCm39) |
V1008A |
probably benign |
Het |
Tmem145 |
A |
G |
7: 25,015,039 (GRCm39) |
H554R |
probably benign |
Het |
Trank1 |
A |
T |
9: 111,195,744 (GRCm39) |
D1256V |
possibly damaging |
Het |
Trbv19 |
A |
G |
6: 41,155,794 (GRCm39) |
Y55C |
possibly damaging |
Het |
Ttc23l |
C |
T |
15: 10,551,555 (GRCm39) |
C57Y |
probably benign |
Het |
Uap1 |
A |
T |
1: 169,988,949 (GRCm39) |
C158S |
probably benign |
Het |
Zfp353-ps |
T |
A |
8: 42,535,647 (GRCm39) |
|
noncoding transcript |
Het |
Zfp629 |
T |
A |
7: 127,210,307 (GRCm39) |
I501F |
probably damaging |
Het |
Zfp820 |
T |
C |
17: 22,037,702 (GRCm39) |
Y542C |
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 |
|
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'- TTACAGATATGGGTGCTCAGGAG -3'
(R):5'- AACGCATCTCTGCTCACCAG -3'
Sequencing Primer
(F):5'- GAGATCCAAGGAAGCCCTCG -3'
(R):5'- GCTCACCAGCTTTAGAAATTAGG -3'
|
Posted On |
2016-11-21 |