Incidental Mutation 'R8430:Itpka'
| ID |
653688 |
| 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 |
067775-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.110)
|
| Stock # |
R8430 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
119572818-119581734 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 119580035 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 258
(V258E)
|
| 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: V258E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028758
Gene: ENSMUSG00000027296
AA Change: V258E
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
G |
A |
6: 23,078,981 (GRCm39) |
T677I |
probably benign |
Het |
| Adh4 |
T |
G |
3: 138,128,145 (GRCm39) |
N190K |
probably damaging |
Het |
| Ahnak2 |
A |
T |
12: 112,741,121 (GRCm39) |
S984T |
possibly damaging |
Het |
| Aknad1 |
A |
G |
3: 108,659,037 (GRCm39) |
D17G |
possibly damaging |
Het |
| Ankrd11 |
T |
C |
8: 123,620,105 (GRCm39) |
N1249S |
probably benign |
Het |
| Ankrd31 |
A |
G |
13: 96,988,199 (GRCm39) |
K1071E |
possibly damaging |
Het |
| Atp1a3 |
A |
G |
7: 24,698,437 (GRCm39) |
L120P |
probably damaging |
Het |
| AU040320 |
C |
A |
4: 126,742,693 (GRCm39) |
A986E |
possibly damaging |
Het |
| Camkv |
T |
C |
9: 107,824,968 (GRCm39) |
M323T |
probably damaging |
Het |
| Cdh18 |
T |
G |
15: 23,226,770 (GRCm39) |
L77R |
probably damaging |
Het |
| Col24a1 |
C |
T |
3: 145,021,060 (GRCm39) |
T477M |
probably damaging |
Het |
| Cpeb3 |
A |
T |
19: 37,002,406 (GRCm39) |
F669I |
probably damaging |
Het |
| Cramp1 |
A |
T |
17: 25,196,536 (GRCm39) |
H859Q |
probably damaging |
Het |
| Csnk1g1 |
C |
A |
9: 65,906,803 (GRCm39) |
T140K |
probably damaging |
Het |
| Ctnnbl1 |
A |
G |
2: 157,678,603 (GRCm39) |
E402G |
probably damaging |
Het |
| Cyp20a1 |
T |
C |
1: 60,402,488 (GRCm39) |
V191A |
possibly damaging |
Het |
| Dkk3 |
A |
G |
7: 111,720,853 (GRCm39) |
Y158H |
probably damaging |
Het |
| Fgfr2 |
T |
C |
7: 129,765,708 (GRCm39) |
N835S |
probably damaging |
Het |
| Fggy |
GCACCA |
GCA |
4: 95,815,002 (GRCm39) |
|
probably benign |
Het |
| Gpatch1 |
G |
A |
7: 35,007,634 (GRCm39) |
T142M |
probably damaging |
Het |
| Gtf3c2 |
G |
A |
5: 31,330,403 (GRCm39) |
A189V |
probably damaging |
Het |
| Heatr5b |
T |
C |
17: 79,137,053 (GRCm39) |
I156V |
probably damaging |
Het |
| Klhdc4 |
A |
G |
8: 122,526,252 (GRCm39) |
S327P |
possibly damaging |
Het |
| L1td1 |
C |
T |
4: 98,626,109 (GRCm39) |
T702I |
probably damaging |
Het |
| Lap3 |
A |
G |
5: 45,654,726 (GRCm39) |
D110G |
probably benign |
Het |
| Mab21l1 |
C |
A |
3: 55,690,830 (GRCm39) |
A139E |
probably damaging |
Het |
| Myo15b |
G |
A |
11: 115,773,049 (GRCm39) |
V173M |
probably benign |
Het |
| Or12e1 |
T |
G |
2: 87,022,564 (GRCm39) |
S178A |
possibly damaging |
Het |
| Or2a57 |
G |
A |
6: 43,212,894 (GRCm39) |
M117I |
probably benign |
Het |
| Or52ab4 |
G |
T |
7: 102,988,164 (GRCm39) |
R301L |
probably benign |
Het |
| Or5m10b |
A |
T |
2: 85,699,526 (GRCm39) |
M197L |
probably benign |
Het |
| Rdh7 |
A |
G |
10: 127,723,495 (GRCm39) |
I120T |
probably benign |
Het |
| Rsph3a |
G |
T |
17: 8,171,403 (GRCm39) |
G173W |
probably damaging |
Het |
| Sec22b |
T |
C |
3: 97,828,546 (GRCm39) |
F203S |
probably benign |
Het |
| Sulf2 |
C |
T |
2: 165,916,736 (GRCm39) |
G867E |
probably benign |
Het |
| Tia1 |
A |
T |
6: 86,395,906 (GRCm39) |
D90V |
probably benign |
Het |
| Tiam2 |
A |
G |
17: 3,568,537 (GRCm39) |
D1561G |
probably benign |
Het |
| Trav9d-1 |
A |
G |
14: 53,030,217 (GRCm39) |
Y107C |
probably damaging |
Het |
| Trim32 |
T |
C |
4: 65,532,943 (GRCm39) |
V500A |
probably damaging |
Het |
| Ube2f |
G |
A |
1: 91,181,989 (GRCm39) |
|
probably benign |
Het |
| Ulk4 |
C |
T |
9: 121,086,144 (GRCm39) |
|
probably null |
Het |
| Zfp940 |
A |
G |
7: 29,544,771 (GRCm39) |
F379L |
probably benign |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTTCTAACTGGTGCCCTTGTGC -3'
(R):5'- TATACATGTCCTTCCGCAGC -3'
Sequencing Primer
(F):5'- CAGGGAGTTTCAAAGCTGCC -3'
(R):5'- ATGTCCTTCCGCAGCTTGGG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation