Incidental Mutation 'IGL02134:Itpkc'
| ID |
281236 |
| 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 # |
IGL02134
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
26906595-26928042 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 26927300 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 205
(Q205*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003850
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003850]
|
| AlphaFold |
Q7TS72 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000003850
AA Change: Q205*
|
| SMART Domains |
Protein: ENSMUSP00000003850
Gene: ENSMUSG00000003752
AA Change: Q205*
| 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 |
noncoding transcript
Transcript: ENSMUST00000206441
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf4 |
T |
C |
17: 42,980,581 (GRCm39) |
N168S |
probably damaging |
Het |
| Angptl3 |
A |
T |
4: 98,919,349 (GRCm39) |
R36S |
probably damaging |
Het |
| Ap5z1 |
T |
C |
5: 142,460,214 (GRCm39) |
F514L |
probably benign |
Het |
| Arhgef39 |
C |
A |
4: 43,497,578 (GRCm39) |
|
probably null |
Het |
| Aste1 |
A |
G |
9: 105,275,043 (GRCm39) |
S11G |
probably damaging |
Het |
| Cadm4 |
T |
C |
7: 24,198,986 (GRCm39) |
V87A |
probably benign |
Het |
| Cd177 |
A |
G |
7: 24,451,777 (GRCm39) |
I413T |
probably benign |
Het |
| Col5a2 |
A |
G |
1: 45,430,230 (GRCm39) |
|
probably null |
Het |
| Dera |
C |
T |
6: 137,807,269 (GRCm39) |
A239V |
probably damaging |
Het |
| Ecm1 |
T |
C |
3: 95,643,499 (GRCm39) |
E283G |
probably damaging |
Het |
| Eml6 |
G |
T |
11: 29,709,066 (GRCm39) |
H24N |
probably benign |
Het |
| Etl4 |
A |
G |
2: 20,811,240 (GRCm39) |
K1425E |
possibly damaging |
Het |
| Fgd3 |
G |
A |
13: 49,450,225 (GRCm39) |
S8L |
possibly damaging |
Het |
| Gli1 |
T |
C |
10: 127,172,369 (GRCm39) |
E228G |
probably benign |
Het |
| Hivep3 |
A |
G |
4: 119,990,771 (GRCm39) |
|
probably benign |
Het |
| Iqcc |
A |
G |
4: 129,512,818 (GRCm39) |
S11P |
probably damaging |
Het |
| Jmjd1c |
T |
A |
10: 67,056,171 (GRCm39) |
S530R |
possibly damaging |
Het |
| Kcnq1 |
A |
G |
7: 142,737,453 (GRCm39) |
H257R |
possibly damaging |
Het |
| Kcnt2 |
G |
A |
1: 140,304,121 (GRCm39) |
V164I |
probably benign |
Het |
| Lgr5 |
T |
C |
10: 115,288,763 (GRCm39) |
H603R |
possibly damaging |
Het |
| Lrp2 |
T |
C |
2: 69,343,723 (GRCm39) |
|
probably null |
Het |
| Lrrn2 |
A |
G |
1: 132,865,555 (GRCm39) |
M207V |
possibly damaging |
Het |
| Miip |
A |
G |
4: 147,949,735 (GRCm39) |
|
probably benign |
Het |
| Mrps35 |
T |
C |
6: 146,949,808 (GRCm39) |
|
probably benign |
Het |
| Nuf2 |
A |
T |
1: 169,341,069 (GRCm39) |
M184K |
probably benign |
Het |
| Or10q1 |
C |
A |
19: 13,727,165 (GRCm39) |
R232S |
probably benign |
Het |
| Or14j2 |
C |
T |
17: 37,886,249 (GRCm39) |
E22K |
probably benign |
Het |
| Or2f2 |
A |
G |
6: 42,767,398 (GRCm39) |
T142A |
probably benign |
Het |
| Or4a15 |
A |
T |
2: 89,193,172 (GRCm39) |
N200K |
probably damaging |
Het |
| Or8g32 |
A |
T |
9: 39,305,830 (GRCm39) |
I248F |
probably damaging |
Het |
| Os9 |
T |
C |
10: 126,956,861 (GRCm39) |
I42V |
possibly damaging |
Het |
| Rapgef4 |
A |
C |
2: 72,010,405 (GRCm39) |
Q177P |
probably damaging |
Het |
| Rhpn2 |
T |
C |
7: 35,070,536 (GRCm39) |
|
probably benign |
Het |
| Scn5a |
T |
C |
9: 119,314,958 (GRCm39) |
R1916G |
probably damaging |
Het |
| Serpine1 |
T |
A |
5: 137,095,889 (GRCm39) |
|
probably benign |
Het |
| Snd1 |
C |
T |
6: 28,880,278 (GRCm39) |
P684L |
possibly damaging |
Het |
| Tgds |
T |
C |
14: 118,350,534 (GRCm39) |
N340D |
probably benign |
Het |
| Trpc4 |
A |
T |
3: 54,223,075 (GRCm39) |
Y706F |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,584,166 (GRCm39) |
D22314V |
probably damaging |
Het |
| Utrn |
G |
A |
10: 12,519,163 (GRCm39) |
T2263I |
probably damaging |
Het |
| Vmn1r11 |
A |
T |
6: 57,115,022 (GRCm39) |
T229S |
possibly damaging |
Het |
| Zfp142 |
T |
G |
1: 74,609,022 (GRCm39) |
H1488P |
probably damaging |
Het |
| Zfp219 |
A |
G |
14: 52,246,758 (GRCm39) |
L78P |
probably damaging |
Het |
| Zfp629 |
T |
A |
7: 127,211,042 (GRCm39) |
T256S |
probably benign |
Het |
|
| Other mutations in Itpkc |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01751:Itpkc
|
APN |
7 |
26,912,491 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01774:Itpkc
|
APN |
7 |
26,911,795 (GRCm39) |
missense |
probably benign |
0.05 |
|
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 |
2015-04-16 |
Incidental Mutation