Incidental Mutation 'IGL02998:Itpka'
ID |
407206 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Itpka
|
Ensembl Gene |
ENSMUSG00000027296 |
Gene Name |
inositol 1,4,5-trisphosphate 3-kinase A |
Synonyms |
IP3-kinase A |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.110)
|
Stock # |
IGL02998
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
119572818-119581734 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 119581242 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Arginine
at position 425
(Q425R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028758
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028758]
[ENSMUST00000028759]
[ENSMUST00000082130]
[ENSMUST00000140224]
[ENSMUST00000182203]
|
AlphaFold |
Q8R071 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028758
AA Change: Q425R
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000028758 Gene: ENSMUSG00000027296 AA Change: Q425R
Domain | Start | End | E-Value | Type |
low complexity region
|
40 |
64 |
N/A |
INTRINSIC |
low complexity region
|
116 |
149 |
N/A |
INTRINSIC |
Pfam:IPK
|
243 |
454 |
1.3e-43 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000028759
|
SMART Domains |
Protein: ENSMUSP00000028759 Gene: ENSMUSG00000027297
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
Pfam:Gly_rich
|
111 |
381 |
2.4e-21 |
PFAM |
transmembrane domain
|
423 |
445 |
N/A |
INTRINSIC |
TyrKc
|
506 |
773 |
2.61e-127 |
SMART |
low complexity region
|
824 |
841 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000082130
|
SMART Domains |
Protein: ENSMUSP00000080774 Gene: ENSMUSG00000027297
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
Pfam:Gly_rich
|
109 |
294 |
6.1e-16 |
PFAM |
transmembrane domain
|
362 |
384 |
N/A |
INTRINSIC |
TyrKc
|
445 |
712 |
2.61e-127 |
SMART |
low complexity region
|
763 |
780 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127470
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134295
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000140224
|
SMART Domains |
Protein: ENSMUSP00000123020 Gene: ENSMUSG00000027297
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
19 |
N/A |
INTRINSIC |
transmembrane domain
|
111 |
133 |
N/A |
INTRINSIC |
TyrKc
|
194 |
461 |
1.2e-129 |
SMART |
low complexity region
|
512 |
529 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182203
|
SMART Domains |
Protein: ENSMUSP00000138201 Gene: ENSMUSG00000027297
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
19 |
N/A |
INTRINSIC |
transmembrane domain
|
111 |
133 |
N/A |
INTRINSIC |
TyrKc
|
194 |
461 |
2.61e-127 |
SMART |
low complexity region
|
512 |
529 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Regulates inositol phosphate metabolism by phosphorylation of second messenger inositol 1,4,5-trisphosphate to Ins(1,3,4,5)P4. The activity of the inositol 1,4,5-trisphosphate 3-kinase 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. It is also a substrate for the cyclic AMP-dependent protein kinase, calcium/calmodulin- dependent protein kinase II, and protein kinase C in vitro.[provided by RefSeq, Apr 2011] PHENOTYPE: Mice homozygous for a knock-out allele display enhanced long term potentiation in the hippocampal CA1 region. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb2 |
C |
T |
4: 129,912,862 (GRCm39) |
A1329V |
probably benign |
Het |
Bhlha9 |
G |
A |
11: 76,563,570 (GRCm39) |
A66T |
probably damaging |
Het |
Dock10 |
G |
A |
1: 80,551,259 (GRCm39) |
R681W |
probably damaging |
Het |
Dst |
T |
C |
1: 34,307,356 (GRCm39) |
L1433P |
probably damaging |
Het |
Ercc6 |
A |
G |
14: 32,279,814 (GRCm39) |
I610V |
probably benign |
Het |
Fras1 |
T |
C |
5: 96,850,040 (GRCm39) |
F1859S |
possibly damaging |
Het |
Gad1 |
A |
G |
2: 70,420,163 (GRCm39) |
Y349C |
probably damaging |
Het |
Galnt1 |
T |
A |
18: 24,397,469 (GRCm39) |
I190N |
probably damaging |
Het |
Gm28042 |
G |
A |
2: 119,870,635 (GRCm39) |
V768I |
possibly damaging |
Het |
Gm8220 |
T |
C |
14: 44,525,765 (GRCm39) |
|
probably null |
Het |
Higd1a |
A |
G |
9: 121,678,690 (GRCm39) |
|
probably benign |
Het |
Itga4 |
T |
A |
2: 79,108,165 (GRCm39) |
Y206N |
possibly damaging |
Het |
Itpk1 |
A |
G |
12: 102,545,398 (GRCm39) |
V235A |
probably damaging |
Het |
Kpna6 |
T |
A |
4: 129,549,297 (GRCm39) |
I162F |
probably benign |
Het |
Msantd1 |
A |
G |
5: 35,078,768 (GRCm39) |
D101G |
probably damaging |
Het |
Ntrk3 |
T |
C |
7: 78,227,405 (GRCm39) |
I43V |
probably damaging |
Het |
Pias3 |
G |
A |
3: 96,609,495 (GRCm39) |
E271K |
probably damaging |
Het |
Pparg |
A |
G |
6: 115,440,049 (GRCm39) |
I178V |
probably benign |
Het |
Rxfp3 |
A |
T |
15: 11,037,054 (GRCm39) |
M106K |
probably damaging |
Het |
Scn3b |
G |
A |
9: 40,199,713 (GRCm39) |
V210M |
possibly damaging |
Het |
Shisa3 |
A |
G |
5: 67,765,848 (GRCm39) |
D33G |
possibly damaging |
Het |
Suz12 |
T |
A |
11: 79,920,149 (GRCm39) |
W570R |
probably damaging |
Het |
Vmn2r107 |
A |
T |
17: 20,578,017 (GRCm39) |
K442M |
probably damaging |
Het |
|
Other mutations in Itpka |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01147:Itpka
|
APN |
2 |
119,573,254 (GRCm39) |
missense |
probably benign |
|
R0833:Itpka
|
UTSW |
2 |
119,581,312 (GRCm39) |
missense |
probably damaging |
1.00 |
R0836:Itpka
|
UTSW |
2 |
119,581,312 (GRCm39) |
missense |
probably damaging |
1.00 |
R4032:Itpka
|
UTSW |
2 |
119,573,082 (GRCm39) |
missense |
probably benign |
0.20 |
R5207:Itpka
|
UTSW |
2 |
119,580,974 (GRCm39) |
missense |
probably damaging |
1.00 |
R6520:Itpka
|
UTSW |
2 |
119,581,259 (GRCm39) |
missense |
probably benign |
0.15 |
R7900:Itpka
|
UTSW |
2 |
119,580,994 (GRCm39) |
missense |
probably benign |
0.14 |
R8409:Itpka
|
UTSW |
2 |
119,580,341 (GRCm39) |
missense |
probably damaging |
1.00 |
R8430:Itpka
|
UTSW |
2 |
119,580,035 (GRCm39) |
missense |
probably damaging |
1.00 |
R9008:Itpka
|
UTSW |
2 |
119,579,894 (GRCm39) |
missense |
probably damaging |
0.99 |
R9239:Itpka
|
UTSW |
2 |
119,580,023 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Itpka
|
UTSW |
2 |
119,573,281 (GRCm39) |
missense |
probably damaging |
0.97 |
Z1177:Itpka
|
UTSW |
2 |
119,581,256 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Itpka
|
UTSW |
2 |
119,579,902 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2016-08-02 |