Incidental Mutation 'R9239:Itpka'
| ID |
700621 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itpka
|
| Ensembl Gene |
ENSMUSG00000027296 |
| Gene Name |
inositol 1,4,5-trisphosphate 3-kinase A |
| Synonyms |
IP3-kinase A |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.110)
|
| Stock # |
R9239 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
119572818-119581734 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 119580023 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 254
(D254G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028758
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028758]
[ENSMUST00000028759]
[ENSMUST00000082130]
[ENSMUST00000140224]
[ENSMUST00000182203]
|
| AlphaFold |
Q8R071 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028758
AA Change: D254G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000028758
Gene: ENSMUSG00000027296
AA Change: D254G
| 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 |
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
| Validation Efficiency |
100% (44/44) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot8 |
A |
G |
2: 164,646,608 (GRCm39) |
|
probably null |
Het |
| Aldh1l2 |
A |
G |
10: 83,342,496 (GRCm39) |
F438S |
probably damaging |
Het |
| Alk |
T |
A |
17: 72,256,864 (GRCm39) |
N665I |
probably benign |
Het |
| Anxa4 |
T |
A |
6: 86,734,812 (GRCm39) |
T59S |
probably benign |
Het |
| B3gnt8 |
ACCCC |
ACCC |
7: 25,327,676 (GRCm39) |
|
probably null |
Het |
| Cabs1 |
G |
A |
5: 88,127,385 (GRCm39) |
R12Q |
probably benign |
Het |
| Cep152 |
A |
G |
2: 125,425,830 (GRCm39) |
V845A |
probably benign |
Het |
| Dipk1a |
T |
C |
5: 108,059,572 (GRCm39) |
E127G |
possibly damaging |
Het |
| Dsg1a |
T |
A |
18: 20,473,750 (GRCm39) |
V941E |
probably damaging |
Het |
| Fbxo11 |
G |
T |
17: 88,316,522 (GRCm39) |
H284N |
|
Het |
| Fubp1 |
A |
G |
3: 151,923,486 (GRCm39) |
E98G |
probably damaging |
Het |
| Fyco1 |
A |
G |
9: 123,626,637 (GRCm39) |
I1358T |
probably damaging |
Het |
| Ginm1 |
T |
C |
10: 7,649,825 (GRCm39) |
N156S |
possibly damaging |
Het |
| Gm3739 |
T |
C |
14: 18,505,221 (GRCm39) |
Y101C |
probably damaging |
Het |
| Ide |
T |
C |
19: 37,307,898 (GRCm39) |
N38S |
|
Het |
| Itgb4 |
T |
C |
11: 115,898,130 (GRCm39) |
V1644A |
probably damaging |
Het |
| Kat7 |
T |
A |
11: 95,197,020 (GRCm39) |
R6S |
probably benign |
Het |
| Klhl40 |
A |
T |
9: 121,607,637 (GRCm39) |
T266S |
probably benign |
Het |
| Lratd1 |
A |
G |
12: 14,200,185 (GRCm39) |
W181R |
probably damaging |
Het |
| Mmaa |
T |
C |
8: 79,995,856 (GRCm39) |
D289G |
probably damaging |
Het |
| Muc5ac |
A |
T |
7: 141,353,954 (GRCm39) |
D851V |
probably damaging |
Het |
| Or1e29 |
A |
G |
11: 73,667,346 (GRCm39) |
V269A |
probably benign |
Het |
| Or52n4 |
G |
T |
7: 104,293,746 (GRCm39) |
H278N |
probably damaging |
Het |
| Or6b3 |
T |
C |
1: 92,439,454 (GRCm39) |
T99A |
probably benign |
Het |
| Pcdh17 |
T |
G |
14: 84,770,649 (GRCm39) |
I1042M |
probably benign |
Het |
| Pipox |
A |
G |
11: 77,774,765 (GRCm39) |
I106T |
probably benign |
Het |
| Ppcs |
C |
T |
4: 119,276,235 (GRCm39) |
V290M |
possibly damaging |
Het |
| Rnasel |
T |
A |
1: 153,630,097 (GRCm39) |
N204K |
probably damaging |
Het |
| Runx1 |
A |
G |
16: 92,402,935 (GRCm39) |
Y336H |
probably damaging |
Het |
| Sell |
A |
G |
1: 163,893,176 (GRCm39) |
I131V |
possibly damaging |
Het |
| Serpina3f |
A |
G |
12: 104,184,710 (GRCm39) |
R285G |
possibly damaging |
Het |
| Slc25a2 |
A |
T |
18: 37,771,169 (GRCm39) |
M120K |
possibly damaging |
Het |
| Slc47a1 |
A |
T |
11: 61,250,344 (GRCm39) |
|
probably null |
Het |
| Slc4a11 |
C |
T |
2: 130,533,664 (GRCm39) |
A100T |
probably damaging |
Het |
| Spats2l |
A |
G |
1: 57,871,257 (GRCm39) |
|
probably benign |
Het |
| Spopfm1 |
T |
A |
3: 94,173,871 (GRCm39) |
V289E |
probably benign |
Het |
| Taf1b |
T |
A |
12: 24,606,015 (GRCm39) |
L431H |
probably damaging |
Het |
| Tectb |
CT |
C |
19: 55,181,094 (GRCm39) |
|
probably null |
Het |
| Thsd7b |
G |
A |
1: 130,087,453 (GRCm39) |
|
probably null |
Het |
| Tmtc4 |
A |
G |
14: 123,165,078 (GRCm39) |
Y594H |
possibly damaging |
Het |
| Trim33 |
T |
C |
3: 103,237,453 (GRCm39) |
F599L |
probably benign |
Het |
| Vcl |
A |
G |
14: 21,072,092 (GRCm39) |
D819G |
probably damaging |
Het |
| Vmn1r43 |
G |
A |
6: 89,846,877 (GRCm39) |
T203M |
probably damaging |
Het |
| Vmn2r1 |
G |
T |
3: 64,011,959 (GRCm39) |
V607L |
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 |
|
|
IGL02998:Itpka
|
APN |
2 |
119,581,242 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAGGCGTGGGCAGTTCTAAC -3'
(R):5'- ATACATGTCCTTCCGCAGC -3'
Sequencing Primer
(F):5'- CAGGGAGTTTCAAAGCTGCC -3'
(R):5'- ATGTCCTTCCGCAGCTTGGG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation