Incidental Mutation 'R3798:Ip6k3'
| ID |
272857 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ip6k3
|
| Ensembl Gene |
ENSMUSG00000024210 |
| Gene Name |
inositol hexaphosphate kinase 3 |
| Synonyms |
Ihpk3, D830007E07Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.124)
|
| Stock # |
R3798 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
27362945-27386738 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 27364080 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 323
(I323V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025046
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025046]
|
| AlphaFold |
Q8BWD2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025046
AA Change: I323V
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000025046
Gene: ENSMUSG00000024210
AA Change: I323V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IPK
|
193 |
390 |
3e-68 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the inositol phosphokinase (IPK) family. This protein is likely responsible for the conversion of inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5). It may also convert 1,3,4,5,6-pentakisphosphate (InsP5) to PP-InsP4. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, Dec 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit altered cerebellar Purkinje cell morphology, reduced synapse number, and defects in motor learning and coordination. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadsb |
T |
A |
7: 131,033,694 (GRCm39) |
V237E |
probably damaging |
Het |
| Adgrf3 |
T |
C |
5: 30,401,821 (GRCm39) |
I736V |
possibly damaging |
Het |
| Alpk3 |
C |
A |
7: 80,742,501 (GRCm39) |
P773T |
probably benign |
Het |
| Basp1 |
C |
A |
15: 25,364,398 (GRCm39) |
|
probably benign |
Het |
| Bbs9 |
T |
C |
9: 22,550,065 (GRCm39) |
S21P |
probably damaging |
Het |
| Btbd16 |
A |
G |
7: 130,378,870 (GRCm39) |
N5D |
probably benign |
Het |
| Csmd2 |
C |
T |
4: 128,411,388 (GRCm39) |
P2469S |
probably benign |
Het |
| Cyld |
T |
C |
8: 89,461,558 (GRCm39) |
L662P |
probably damaging |
Het |
| Eif2ak4 |
C |
T |
2: 118,304,564 (GRCm39) |
R1530C |
probably damaging |
Het |
| Fam43b |
G |
C |
4: 138,122,409 (GRCm39) |
R304G |
probably benign |
Het |
| Itpr1 |
T |
C |
6: 108,358,231 (GRCm39) |
L599P |
probably damaging |
Het |
| Lancl1 |
G |
A |
1: 67,073,303 (GRCm39) |
T60I |
probably damaging |
Het |
| Lmf1 |
G |
A |
17: 25,873,445 (GRCm39) |
V317M |
probably damaging |
Het |
| Lrrc8d |
T |
A |
5: 105,960,355 (GRCm39) |
I255N |
probably benign |
Het |
| Ndst1 |
A |
G |
18: 60,846,238 (GRCm39) |
F24L |
possibly damaging |
Het |
| Notch1 |
A |
T |
2: 26,368,630 (GRCm39) |
V553E |
probably benign |
Het |
| Nsd3 |
T |
A |
8: 26,188,873 (GRCm39) |
W69R |
probably damaging |
Het |
| Or2g25 |
T |
A |
17: 37,970,997 (GRCm39) |
I76F |
probably damaging |
Het |
| Pcm1 |
T |
C |
8: 41,711,051 (GRCm39) |
I107T |
possibly damaging |
Het |
| Pcnx3 |
G |
A |
19: 5,728,696 (GRCm39) |
Q422* |
probably null |
Het |
| Phrf1 |
C |
T |
7: 140,839,831 (GRCm39) |
R243* |
probably null |
Het |
| Ptbp3 |
T |
C |
4: 59,546,166 (GRCm39) |
I9V |
probably benign |
Het |
| Sacs |
T |
C |
14: 61,443,570 (GRCm39) |
V1872A |
possibly damaging |
Het |
| Slc35g3 |
A |
G |
11: 69,651,743 (GRCm39) |
F103L |
probably benign |
Het |
| Slx4ip |
T |
A |
2: 136,909,543 (GRCm39) |
D109E |
probably benign |
Het |
| Tas2r118 |
T |
C |
6: 23,969,822 (GRCm39) |
K80E |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,725,087 (GRCm39) |
|
probably benign |
Het |
| Vmn2r72 |
T |
C |
7: 85,387,285 (GRCm39) |
S760G |
probably benign |
Het |
| Vmn2r79 |
A |
G |
7: 86,651,402 (GRCm39) |
Y267C |
possibly damaging |
Het |
| Wdr90 |
T |
C |
17: 26,069,472 (GRCm39) |
S1194G |
probably benign |
Het |
| Xdh |
T |
C |
17: 74,214,653 (GRCm39) |
E764G |
probably damaging |
Het |
|
| Other mutations in Ip6k3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01584:Ip6k3
|
APN |
17 |
27,370,034 (GRCm39) |
missense |
probably benign |
|
|
R0200:Ip6k3
|
UTSW |
17 |
27,363,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0220:Ip6k3
|
UTSW |
17 |
27,364,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1448:Ip6k3
|
UTSW |
17 |
27,364,242 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1749:Ip6k3
|
UTSW |
17 |
27,364,053 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1956:Ip6k3
|
UTSW |
17 |
27,370,142 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1957:Ip6k3
|
UTSW |
17 |
27,370,142 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3125:Ip6k3
|
UTSW |
17 |
27,376,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3806:Ip6k3
|
UTSW |
17 |
27,363,974 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4445:Ip6k3
|
UTSW |
17 |
27,364,076 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4506:Ip6k3
|
UTSW |
17 |
27,364,154 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4651:Ip6k3
|
UTSW |
17 |
27,364,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5972:Ip6k3
|
UTSW |
17 |
27,368,934 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R6119:Ip6k3
|
UTSW |
17 |
27,367,599 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7140:Ip6k3
|
UTSW |
17 |
27,363,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7340:Ip6k3
|
UTSW |
17 |
27,367,504 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7811:Ip6k3
|
UTSW |
17 |
27,376,557 (GRCm39) |
nonsense |
probably null |
|
|
R9105:Ip6k3
|
UTSW |
17 |
27,364,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9653:Ip6k3
|
UTSW |
17 |
27,367,588 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTTCCAAGAAGCTTCATTCTCC -3'
(R):5'- TATGGAAGGAAGCTCTCGGTG -3'
Sequencing Primer
(F):5'- GAATCCCAATGAGGTTTTCCAGGC -3'
(R):5'- TGGAGGGATTCAGGCAAGCC -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation