Incidental Mutation 'IGL03181:Ippk'
ID |
412231 |
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 # |
IGL03181
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
49574725-49618049 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 49595463 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 180
(Y180C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152331
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021817]
[ENSMUST00000220447]
[ENSMUST00000220856]
|
AlphaFold |
Q6P1C1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000021817
AA Change: Y229C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000021817 Gene: ENSMUSG00000021385 AA Change: Y229C
Domain | Start | End | E-Value | Type |
Pfam:Ins_P5_2-kin
|
13 |
455 |
1.9e-96 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000220447
AA Change: Y180C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
T |
C |
12: 71,240,147 (GRCm39) |
V1319A |
possibly damaging |
Het |
Abcb11 |
T |
A |
2: 69,158,352 (GRCm39) |
|
probably benign |
Het |
Acss3 |
G |
T |
10: 106,889,249 (GRCm39) |
H190Q |
probably damaging |
Het |
Adra2b |
C |
T |
2: 127,205,903 (GRCm39) |
T140I |
probably benign |
Het |
Arl1 |
T |
A |
10: 88,578,921 (GRCm39) |
|
probably benign |
Het |
Atp4a |
T |
G |
7: 30,424,129 (GRCm39) |
C968G |
probably benign |
Het |
Clec4n |
T |
C |
6: 123,207,474 (GRCm39) |
C13R |
possibly damaging |
Het |
Cnot3 |
T |
C |
7: 3,656,247 (GRCm39) |
Y178H |
probably damaging |
Het |
Col18a1 |
G |
A |
10: 76,891,532 (GRCm39) |
R1560C |
probably damaging |
Het |
Cyp2c66 |
T |
C |
19: 39,130,483 (GRCm39) |
F106S |
probably benign |
Het |
Dcn |
A |
C |
10: 97,319,314 (GRCm39) |
E30D |
probably damaging |
Het |
Dennd5a |
A |
T |
7: 109,532,865 (GRCm39) |
F302I |
probably damaging |
Het |
Dip2b |
T |
C |
15: 100,113,088 (GRCm39) |
V1501A |
probably damaging |
Het |
Dnah10 |
C |
T |
5: 124,825,521 (GRCm39) |
P687S |
probably damaging |
Het |
Drc7 |
A |
G |
8: 95,794,755 (GRCm39) |
T387A |
probably benign |
Het |
Dusp7 |
T |
A |
9: 106,251,009 (GRCm39) |
M378K |
probably damaging |
Het |
Ftmt |
T |
C |
18: 52,464,953 (GRCm39) |
Y90H |
probably damaging |
Het |
Glb1l3 |
T |
C |
9: 26,739,659 (GRCm39) |
|
probably null |
Het |
Gpatch3 |
T |
C |
4: 133,305,433 (GRCm39) |
F223L |
probably damaging |
Het |
Gpr158 |
T |
A |
2: 21,787,972 (GRCm39) |
F538I |
probably benign |
Het |
Gucy2e |
A |
G |
11: 69,121,008 (GRCm39) |
|
probably benign |
Het |
Hadha |
A |
G |
5: 30,326,524 (GRCm39) |
V566A |
probably benign |
Het |
Hectd4 |
A |
T |
5: 121,492,021 (GRCm39) |
S3787C |
possibly damaging |
Het |
Hnrnpk |
A |
T |
13: 58,542,130 (GRCm39) |
D265E |
possibly damaging |
Het |
Hspbp1 |
G |
A |
7: 4,687,363 (GRCm39) |
R83W |
probably damaging |
Het |
Hspg2 |
T |
A |
4: 137,243,248 (GRCm39) |
L758Q |
probably damaging |
Het |
Itpr3 |
T |
A |
17: 27,330,242 (GRCm39) |
M1620K |
probably benign |
Het |
Klf7 |
T |
C |
1: 64,074,885 (GRCm39) |
K298R |
possibly damaging |
Het |
Ktn1 |
A |
T |
14: 47,970,741 (GRCm39) |
T1229S |
probably benign |
Het |
Lefty2 |
A |
G |
1: 180,725,115 (GRCm39) |
N282D |
probably damaging |
Het |
Lrrc37 |
A |
T |
11: 103,507,242 (GRCm39) |
|
probably benign |
Het |
Nsd1 |
G |
A |
13: 55,394,858 (GRCm39) |
E820K |
probably damaging |
Het |
Obsl1 |
C |
A |
1: 75,469,228 (GRCm39) |
A1238S |
probably benign |
Het |
Odr4 |
G |
T |
1: 150,239,290 (GRCm39) |
P378T |
probably benign |
Het |
Pias2 |
T |
C |
18: 77,220,938 (GRCm39) |
I391T |
possibly damaging |
Het |
Ppp1r10 |
G |
T |
17: 36,241,516 (GRCm39) |
G764* |
probably null |
Het |
Ptpra |
T |
C |
2: 130,359,707 (GRCm39) |
F158L |
probably damaging |
Het |
Recql |
T |
C |
6: 142,323,918 (GRCm39) |
S59G |
probably benign |
Het |
Rrp1b |
A |
T |
17: 32,276,150 (GRCm39) |
I566F |
probably benign |
Het |
Sh3yl1 |
G |
A |
12: 30,991,979 (GRCm39) |
D145N |
possibly damaging |
Het |
Slc35f5 |
T |
A |
1: 125,512,922 (GRCm39) |
I52N |
probably damaging |
Het |
Slc51b |
A |
G |
9: 65,322,447 (GRCm39) |
|
probably null |
Het |
Smpd4 |
C |
T |
16: 17,443,671 (GRCm39) |
Q72* |
probably null |
Het |
Spata6 |
A |
G |
4: 111,679,963 (GRCm39) |
D391G |
probably benign |
Het |
Tnc |
T |
A |
4: 63,885,543 (GRCm39) |
D1853V |
possibly damaging |
Het |
Tnks1bp1 |
C |
T |
2: 84,893,058 (GRCm39) |
T333I |
probably benign |
Het |
Vmn2r100 |
T |
A |
17: 19,752,207 (GRCm39) |
I813N |
probably damaging |
Het |
Vwa8 |
T |
A |
14: 79,246,690 (GRCm39) |
H677Q |
probably benign |
Het |
Washc4 |
T |
C |
10: 83,426,883 (GRCm39) |
Y1064H |
probably damaging |
Het |
Wdr82 |
T |
A |
9: 106,063,614 (GRCm39) |
I272K |
probably benign |
Het |
Zc3h12a |
T |
C |
4: 125,013,097 (GRCm39) |
Y589C |
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 |
IGL02577:Ippk
|
APN |
13 |
49,615,134 (GRCm39) |
missense |
possibly damaging |
0.86 |
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 |
2016-08-02 |