Incidental Mutation 'IGL01751:Itpkc'
ID |
153142 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Itpkc
|
Ensembl Gene |
ENSMUSG00000003752 |
Gene Name |
inositol 1,4,5-trisphosphate 3-kinase C |
Synonyms |
9130023N17Rik |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.361)
|
Stock # |
IGL01751
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
26906595-26928042 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
G to A
at 26912491 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104016
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003850]
[ENSMUST00000108379]
|
AlphaFold |
Q7TS72 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000003850
|
SMART Domains |
Protein: ENSMUSP00000003850 Gene: ENSMUSG00000003752
Domain | Start | End | E-Value | Type |
low complexity region
|
28 |
59 |
N/A |
INTRINSIC |
low complexity region
|
346 |
363 |
N/A |
INTRINSIC |
Pfam:IPK
|
462 |
673 |
3.7e-42 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108379
|
SMART Domains |
Protein: ENSMUSP00000104016 Gene: ENSMUSG00000078786
Domain | Start | End | E-Value | Type |
low complexity region
|
26 |
42 |
N/A |
INTRINSIC |
low complexity region
|
50 |
80 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147170
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149067
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the inositol 1,4,5-trisphosphate [Ins(1,4,5)P(3)] 3-kinase family of enzymes that catalyze the phosphorylation of inositol 1,4,5-trisphosphate to 1,3,4,5-tetrakisphosphate. The encoded protein is localized to the nucleus and cytoplasm and has both nuclear import and nuclear export activity. Single nucleotide polymorphisms in this gene are associated with Kawasaki disease.[provided by RefSeq, Sep 2009] PHENOTYPE: No overt phenotype reported. Thymocyte development was normal in homozygous null mice. [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 |
1700018F24Rik |
A |
G |
5: 144,979,981 (GRCm39) |
|
probably null |
Het |
Abtb3 |
C |
A |
10: 85,490,366 (GRCm39) |
Q1011K |
probably damaging |
Het |
Aoc1l2 |
A |
T |
6: 48,907,522 (GRCm39) |
H174L |
possibly damaging |
Het |
Auts2 |
G |
T |
5: 131,501,198 (GRCm39) |
Q72K |
probably damaging |
Het |
Ccdc7b |
A |
T |
8: 129,863,049 (GRCm39) |
|
probably benign |
Het |
Frem3 |
A |
G |
8: 81,342,372 (GRCm39) |
E1555G |
probably benign |
Het |
Gm5263 |
T |
G |
1: 146,296,302 (GRCm39) |
|
noncoding transcript |
Het |
Gm5828 |
A |
G |
1: 16,840,208 (GRCm39) |
|
noncoding transcript |
Het |
Gm6605 |
T |
C |
7: 38,147,630 (GRCm39) |
|
noncoding transcript |
Het |
Gvin3 |
T |
A |
7: 106,201,516 (GRCm39) |
N576I |
possibly damaging |
Het |
Hps3 |
T |
C |
3: 20,065,130 (GRCm39) |
D638G |
probably damaging |
Het |
Igdcc4 |
A |
T |
9: 65,039,014 (GRCm39) |
N887I |
probably damaging |
Het |
Mfge8 |
A |
G |
7: 78,786,403 (GRCm39) |
|
probably null |
Het |
Mrc2 |
G |
T |
11: 105,216,560 (GRCm39) |
L116F |
probably benign |
Het |
Necab1 |
T |
C |
4: 14,978,171 (GRCm39) |
D226G |
probably damaging |
Het |
Neurod2 |
T |
C |
11: 98,218,201 (GRCm39) |
E321G |
possibly damaging |
Het |
Obp2b |
G |
T |
2: 25,627,760 (GRCm39) |
V59L |
possibly damaging |
Het |
Olr1 |
T |
C |
6: 129,465,811 (GRCm39) |
N65S |
possibly damaging |
Het |
Or14c39 |
A |
T |
7: 86,343,997 (GRCm39) |
Q111L |
probably benign |
Het |
Or2n1 |
G |
T |
17: 38,486,577 (GRCm39) |
V201L |
probably benign |
Het |
Or5d43 |
A |
T |
2: 88,104,977 (GRCm39) |
C139S |
possibly damaging |
Het |
Or8b48 |
C |
T |
9: 38,492,809 (GRCm39) |
P79S |
probably damaging |
Het |
Rock1 |
A |
G |
18: 10,079,113 (GRCm39) |
|
probably null |
Het |
Scn3a |
T |
A |
2: 65,291,596 (GRCm39) |
M1717L |
possibly damaging |
Het |
Smg7 |
T |
C |
1: 152,719,812 (GRCm39) |
D903G |
possibly damaging |
Het |
Tlr1 |
A |
T |
5: 65,083,290 (GRCm39) |
L429* |
probably null |
Het |
Ttll9 |
A |
T |
2: 152,825,025 (GRCm39) |
N68I |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,567,943 (GRCm39) |
V25904A |
possibly damaging |
Het |
Uaca |
G |
A |
9: 60,777,139 (GRCm39) |
V507M |
probably damaging |
Het |
Vmn1r195 |
G |
T |
13: 22,463,421 (GRCm39) |
C297F |
probably benign |
Het |
Zdhhc2 |
G |
A |
8: 40,926,042 (GRCm39) |
A346T |
probably benign |
Het |
|
Other mutations in Itpkc |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01774:Itpkc
|
APN |
7 |
26,911,795 (GRCm39) |
missense |
probably benign |
0.05 |
IGL02134:Itpkc
|
APN |
7 |
26,927,300 (GRCm39) |
nonsense |
probably null |
|
IGL02719:Itpkc
|
APN |
7 |
26,927,475 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0284:Itpkc
|
UTSW |
7 |
26,913,968 (GRCm39) |
nonsense |
probably null |
|
R0364:Itpkc
|
UTSW |
7 |
26,927,174 (GRCm39) |
missense |
possibly damaging |
0.80 |
R0403:Itpkc
|
UTSW |
7 |
26,907,770 (GRCm39) |
missense |
probably benign |
0.01 |
R1175:Itpkc
|
UTSW |
7 |
26,927,195 (GRCm39) |
missense |
probably benign |
0.00 |
R1676:Itpkc
|
UTSW |
7 |
26,907,706 (GRCm39) |
missense |
probably damaging |
1.00 |
R1813:Itpkc
|
UTSW |
7 |
26,907,805 (GRCm39) |
missense |
probably damaging |
1.00 |
R1896:Itpkc
|
UTSW |
7 |
26,907,805 (GRCm39) |
missense |
probably damaging |
1.00 |
R1944:Itpkc
|
UTSW |
7 |
26,927,084 (GRCm39) |
missense |
possibly damaging |
0.55 |
R2142:Itpkc
|
UTSW |
7 |
26,919,075 (GRCm39) |
missense |
possibly damaging |
0.83 |
R3030:Itpkc
|
UTSW |
7 |
26,911,733 (GRCm39) |
splice site |
probably null |
|
R3738:Itpkc
|
UTSW |
7 |
26,927,029 (GRCm39) |
missense |
possibly damaging |
0.95 |
R3739:Itpkc
|
UTSW |
7 |
26,927,029 (GRCm39) |
missense |
possibly damaging |
0.95 |
R3754:Itpkc
|
UTSW |
7 |
26,927,857 (GRCm39) |
missense |
probably damaging |
1.00 |
R3851:Itpkc
|
UTSW |
7 |
26,927,037 (GRCm39) |
missense |
probably benign |
0.00 |
R3852:Itpkc
|
UTSW |
7 |
26,927,037 (GRCm39) |
missense |
probably benign |
0.00 |
R3916:Itpkc
|
UTSW |
7 |
26,927,728 (GRCm39) |
missense |
probably benign |
0.09 |
R3963:Itpkc
|
UTSW |
7 |
26,926,934 (GRCm39) |
missense |
probably damaging |
1.00 |
R5770:Itpkc
|
UTSW |
7 |
26,912,413 (GRCm39) |
missense |
probably damaging |
1.00 |
R5943:Itpkc
|
UTSW |
7 |
26,912,404 (GRCm39) |
missense |
possibly damaging |
0.69 |
R6012:Itpkc
|
UTSW |
7 |
26,927,490 (GRCm39) |
missense |
probably damaging |
0.98 |
R6835:Itpkc
|
UTSW |
7 |
26,927,240 (GRCm39) |
missense |
probably benign |
0.02 |
R7107:Itpkc
|
UTSW |
7 |
26,927,702 (GRCm39) |
missense |
probably benign |
0.15 |
R7379:Itpkc
|
UTSW |
7 |
26,927,194 (GRCm39) |
missense |
probably benign |
0.12 |
R8305:Itpkc
|
UTSW |
7 |
26,913,944 (GRCm39) |
missense |
probably damaging |
1.00 |
R8365:Itpkc
|
UTSW |
7 |
26,911,777 (GRCm39) |
missense |
probably damaging |
1.00 |
R9216:Itpkc
|
UTSW |
7 |
26,927,429 (GRCm39) |
missense |
probably benign |
0.19 |
R9634:Itpkc
|
UTSW |
7 |
26,913,880 (GRCm39) |
missense |
probably benign |
0.29 |
R9764:Itpkc
|
UTSW |
7 |
26,927,222 (GRCm39) |
missense |
probably benign |
0.00 |
Z1176:Itpkc
|
UTSW |
7 |
26,927,063 (GRCm39) |
missense |
probably benign |
0.01 |
Z1177:Itpkc
|
UTSW |
7 |
26,927,206 (GRCm39) |
frame shift |
probably null |
|
|
Posted On |
2014-02-04 |