Incidental Mutation 'R4506:Ip6k3'
| ID |
332036 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ip6k3
|
| Ensembl Gene |
ENSMUSG00000024210 |
| Gene Name |
inositol hexaphosphate kinase 3 |
| Synonyms |
Ihpk3, D830007E07Rik |
| MMRRC Submission |
041584-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.092)
|
| Stock # |
R4506 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
27362945-27386738 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 27364154 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 298
(L298Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025046
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025046]
|
| AlphaFold |
Q8BWD2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025046
AA Change: L298Q
PolyPhen 2
Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000025046
Gene: ENSMUSG00000024210
AA Change: L298Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IPK
|
193 |
390 |
3e-68 |
PFAM |
|
| Meta Mutation Damage Score |
0.5434 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
98% (42/43) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,685,087 (GRCm39) |
P137T |
probably damaging |
Het |
| Abcc5 |
A |
T |
16: 20,152,445 (GRCm39) |
I1367N |
probably damaging |
Het |
| Ace |
T |
A |
11: 105,867,492 (GRCm39) |
L152Q |
probably damaging |
Het |
| Adam19 |
G |
A |
11: 46,009,271 (GRCm39) |
D232N |
possibly damaging |
Het |
| Anapc4 |
A |
T |
5: 52,993,072 (GRCm39) |
N61I |
possibly damaging |
Het |
| Ap5m1 |
T |
C |
14: 49,311,218 (GRCm39) |
V96A |
probably damaging |
Het |
| Atr |
T |
A |
9: 95,747,290 (GRCm39) |
C191S |
probably benign |
Het |
| Carmil3 |
GGACGA |
GGA |
14: 55,736,933 (GRCm39) |
|
probably benign |
Het |
| Cnot6l |
A |
T |
5: 96,234,033 (GRCm39) |
V326E |
possibly damaging |
Het |
| Fcer2a |
A |
T |
8: 3,738,603 (GRCm39) |
|
probably null |
Het |
| Fgfr3 |
A |
G |
5: 33,887,343 (GRCm39) |
T221A |
probably damaging |
Het |
| Gm6632 |
C |
T |
5: 59,211,821 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr158 |
T |
A |
2: 21,831,810 (GRCm39) |
M970K |
probably damaging |
Het |
| H2-T5 |
A |
T |
17: 36,472,372 (GRCm39) |
|
probably benign |
Het |
| Itpr1 |
A |
G |
6: 108,409,647 (GRCm39) |
D1727G |
probably damaging |
Het |
| Kdm2b |
T |
C |
5: 123,026,688 (GRCm39) |
T589A |
possibly damaging |
Het |
| Krtcap2 |
A |
G |
3: 89,153,563 (GRCm39) |
|
probably benign |
Het |
| Map3k13 |
A |
G |
16: 21,740,928 (GRCm39) |
S752G |
probably benign |
Het |
| Mvb12a |
G |
T |
8: 71,996,103 (GRCm39) |
A86S |
probably benign |
Het |
| Nktr |
T |
A |
9: 121,577,949 (GRCm39) |
|
probably benign |
Het |
| Or1e33 |
A |
T |
11: 73,738,521 (GRCm39) |
C143* |
probably null |
Het |
| Or8a1b |
C |
T |
9: 37,622,760 (GRCm39) |
V272I |
probably benign |
Het |
| Parp4 |
T |
A |
14: 56,889,761 (GRCm39) |
N1847K |
unknown |
Het |
| Pcdhga8 |
G |
C |
18: 37,949,816 (GRCm39) |
V411L |
probably damaging |
Het |
| Piwil4 |
T |
C |
9: 14,637,259 (GRCm39) |
T352A |
probably damaging |
Het |
| Ric8a |
A |
G |
7: 140,438,429 (GRCm39) |
I223V |
probably benign |
Het |
| Slc25a51 |
C |
T |
4: 45,399,768 (GRCm39) |
V141M |
probably benign |
Het |
| Slc7a5 |
A |
T |
8: 122,614,234 (GRCm39) |
|
probably null |
Het |
| Slc7a9 |
A |
T |
7: 35,152,845 (GRCm39) |
T88S |
probably damaging |
Het |
| Tbrg1 |
T |
A |
9: 37,565,691 (GRCm39) |
E87V |
probably damaging |
Het |
| Tnfsf4 |
T |
C |
1: 161,244,745 (GRCm39) |
S145P |
probably damaging |
Het |
| Tomm34 |
C |
A |
2: 163,896,292 (GRCm39) |
|
probably null |
Het |
| Trpv3 |
A |
G |
11: 73,186,150 (GRCm39) |
N647S |
probably benign |
Het |
| Upf1 |
G |
A |
8: 70,790,216 (GRCm39) |
R637C |
probably damaging |
Het |
| Vmn2r23 |
A |
T |
6: 123,679,884 (GRCm39) |
Q35H |
probably damaging |
Het |
| Wdtc1 |
C |
T |
4: 133,036,130 (GRCm39) |
V137M |
probably damaging |
Het |
| Zfp276 |
G |
A |
8: 123,991,666 (GRCm39) |
|
probably null |
Het |
| Zfp90 |
C |
T |
8: 107,151,496 (GRCm39) |
P403L |
possibly 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 |
|
R3798:Ip6k3
|
UTSW |
17 |
27,364,080 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
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'- TGAGCGAAGTCAATCATCCG -3'
(R):5'- AACAGGCAAGTTTGGTTTGG -3'
Sequencing Primer
(F):5'- GTCAATCATCCGGACATCAACTTTGG -3'
(R):5'- ACAGTGCCCAGTTTATGCAG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation