Incidental Mutation 'IGL02577:Ippk'
| ID |
299229 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ippk
|
| Ensembl Gene |
ENSMUSG00000021385 |
| Gene Name |
inositol 1,3,4,5,6-pentakisphosphate 2-kinase |
| Synonyms |
1810043M15Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02577
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
49574725-49618049 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 49615134 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 506
(V506I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021817
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021817]
[ENSMUST00000021818]
[ENSMUST00000220447]
[ENSMUST00000220856]
|
| AlphaFold |
Q6P1C1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021817
AA Change: V506I
PolyPhen 2
Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000021817
Gene: ENSMUSG00000021385
AA Change: V506I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ins_P5_2-kin
|
13 |
455 |
1.9e-96 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021818
|
| SMART Domains |
Protein: ENSMUSP00000021818
Gene: ENSMUSG00000021391
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
34 |
N/A |
INTRINSIC |
|
Pfam:CENP-P
|
102 |
278 |
3.9e-89 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220447
AA Change: V457I
PolyPhen 2
Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220856
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a kinase that phosphorylates position 2 of inositol-1,3,4,5,6-pentakisphosphate to form inositol-1,2,3,4,5,6-hexakisphosphate (InsP6). InsP6 has a variety of functions, including stimulation of DNA repair, endocytosis, and mRNA export. [provided by RefSeq, Nov 2010]
PHENOTYPE: Embryos homozygous for a gene trap insertion die prior to E8.5. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(9) : Targeted, knock-out(1) Targeted, other(2) Gene trapped(6)
|
| Other mutations in this stock |
Total: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acmsd |
T |
C |
1: 127,667,696 (GRCm39) |
I40T |
probably benign |
Het |
| Adgrg3 |
C |
T |
8: 95,766,555 (GRCm39) |
R409C |
probably damaging |
Het |
| Cpa5 |
G |
T |
6: 30,626,807 (GRCm39) |
|
probably benign |
Het |
| Idi2l |
C |
A |
13: 8,993,288 (GRCm39) |
Q68H |
probably damaging |
Het |
| Lcn2 |
A |
G |
2: 32,277,101 (GRCm39) |
Y158H |
probably damaging |
Het |
| Mon1b |
G |
T |
8: 114,365,455 (GRCm39) |
R261L |
possibly damaging |
Het |
| Mrgpra4 |
T |
A |
7: 47,630,981 (GRCm39) |
T207S |
probably benign |
Het |
| Or1e30 |
T |
C |
11: 73,677,872 (GRCm39) |
L36P |
probably damaging |
Het |
| Pip5k1c |
C |
A |
10: 81,153,155 (GRCm39) |
|
probably null |
Het |
| Poln |
T |
A |
5: 34,270,679 (GRCm39) |
M451L |
probably benign |
Het |
| Rrh |
A |
C |
3: 129,609,372 (GRCm39) |
V45G |
probably damaging |
Het |
| Smg1 |
A |
T |
7: 117,802,345 (GRCm39) |
M251K |
probably damaging |
Het |
| Tdrd6 |
T |
A |
17: 43,937,728 (GRCm39) |
I1107F |
probably damaging |
Het |
| Tgm5 |
T |
C |
2: 120,908,084 (GRCm39) |
I31V |
probably benign |
Het |
| Vps36 |
C |
T |
8: 22,701,632 (GRCm39) |
Q240* |
probably null |
Het |
| Wdr6 |
C |
T |
9: 108,453,140 (GRCm39) |
V248I |
possibly damaging |
Het |
| Zfp143 |
A |
G |
7: 109,691,114 (GRCm39) |
E555G |
probably damaging |
Het |
|
| Other mutations in Ippk |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01674:Ippk
|
APN |
13 |
49,602,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01994:Ippk
|
APN |
13 |
49,612,093 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02165:Ippk
|
APN |
13 |
49,600,011 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL03181:Ippk
|
APN |
13 |
49,595,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
1mM(1):Ippk
|
UTSW |
13 |
49,588,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0467:Ippk
|
UTSW |
13 |
49,584,341 (GRCm39) |
splice site |
probably null |
|
|
R0811:Ippk
|
UTSW |
13 |
49,596,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0812:Ippk
|
UTSW |
13 |
49,596,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1491:Ippk
|
UTSW |
13 |
49,615,069 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1621:Ippk
|
UTSW |
13 |
49,615,044 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1930:Ippk
|
UTSW |
13 |
49,603,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4081:Ippk
|
UTSW |
13 |
49,599,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5815:Ippk
|
UTSW |
13 |
49,599,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7007:Ippk
|
UTSW |
13 |
49,590,181 (GRCm39) |
splice site |
probably null |
|
|
R7069:Ippk
|
UTSW |
13 |
49,615,219 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7258:Ippk
|
UTSW |
13 |
49,587,338 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7337:Ippk
|
UTSW |
13 |
49,602,767 (GRCm39) |
missense |
probably benign |
0.39 |
|
R7466:Ippk
|
UTSW |
13 |
49,585,943 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7794:Ippk
|
UTSW |
13 |
49,599,818 (GRCm39) |
missense |
|
|
|
R7848:Ippk
|
UTSW |
13 |
49,596,972 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8112:Ippk
|
UTSW |
13 |
49,599,818 (GRCm39) |
missense |
|
|
|
R8113:Ippk
|
UTSW |
13 |
49,599,818 (GRCm39) |
missense |
|
|
|
R8115:Ippk
|
UTSW |
13 |
49,599,818 (GRCm39) |
missense |
|
|
|
R8116:Ippk
|
UTSW |
13 |
49,599,818 (GRCm39) |
missense |
|
|
|
R8117:Ippk
|
UTSW |
13 |
49,599,818 (GRCm39) |
missense |
|
|
|
R8118:Ippk
|
UTSW |
13 |
49,599,818 (GRCm39) |
missense |
|
|
|
R8245:Ippk
|
UTSW |
13 |
49,599,818 (GRCm39) |
missense |
|
|
|
R8378:Ippk
|
UTSW |
13 |
49,589,055 (GRCm39) |
nonsense |
probably null |
|
|
R8395:Ippk
|
UTSW |
13 |
49,615,096 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8549:Ippk
|
UTSW |
13 |
49,615,177 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8912:Ippk
|
UTSW |
13 |
49,603,513 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9351:Ippk
|
UTSW |
13 |
49,615,107 (GRCm39) |
missense |
probably benign |
0.22 |
|
| Posted On |
2015-04-16 |
Incidental Mutation