Incidental Mutation 'IGL02719:Itpkc'
| ID |
304908 |
| 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 # |
IGL02719
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
26906595-26928042 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 26927475 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 146
(D146E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003850
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003850]
[ENSMUST00000003860]
|
| AlphaFold |
Q7TS72 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000003850
AA Change: D146E
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000003850
Gene: ENSMUSG00000003752
AA Change: D146E
| 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: ENSMUST00000003860
|
| SMART Domains |
Protein: ENSMUSP00000003860
Gene: ENSMUSG00000003762
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
93 |
109 |
N/A |
INTRINSIC |
|
Pfam:ABC1
|
198 |
314 |
4.9e-34 |
PFAM |
|
low complexity region
|
348 |
364 |
N/A |
INTRINSIC |
|
low complexity region
|
474 |
483 |
N/A |
INTRINSIC |
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700109H08Rik |
A |
G |
5: 3,632,150 (GRCm39) |
D160G |
probably damaging |
Het |
| Aak1 |
A |
G |
6: 86,936,152 (GRCm39) |
|
probably benign |
Het |
| Anp32e |
A |
G |
3: 95,845,224 (GRCm39) |
|
probably benign |
Het |
| Aspscr1 |
T |
A |
11: 120,568,405 (GRCm39) |
L61Q |
probably damaging |
Het |
| Btrc |
A |
G |
19: 45,491,589 (GRCm39) |
I89M |
probably damaging |
Het |
| Ccdc175 |
G |
A |
12: 72,221,899 (GRCm39) |
T141M |
probably damaging |
Het |
| Cep70 |
G |
A |
9: 99,157,775 (GRCm39) |
V225I |
probably damaging |
Het |
| Cilk1 |
A |
G |
9: 78,047,301 (GRCm39) |
E67G |
probably damaging |
Het |
| Col4a1 |
T |
C |
8: 11,281,950 (GRCm39) |
|
probably benign |
Het |
| Cpne1 |
T |
C |
2: 155,920,137 (GRCm39) |
Y214C |
probably damaging |
Het |
| Crtc3 |
T |
C |
7: 80,268,406 (GRCm39) |
|
probably null |
Het |
| Cul2 |
C |
T |
18: 3,434,052 (GRCm39) |
A683V |
probably damaging |
Het |
| Ddx47 |
A |
G |
6: 134,994,114 (GRCm39) |
N131D |
probably benign |
Het |
| Dnah7b |
T |
G |
1: 46,138,768 (GRCm39) |
|
probably benign |
Het |
| Dnai2 |
T |
C |
11: 114,642,737 (GRCm39) |
L446P |
probably damaging |
Het |
| Ergic2 |
T |
C |
6: 148,106,317 (GRCm39) |
T58A |
possibly damaging |
Het |
| Erlin2 |
A |
G |
8: 27,519,703 (GRCm39) |
|
probably benign |
Het |
| Fermt2 |
T |
C |
14: 45,742,113 (GRCm39) |
T78A |
probably damaging |
Het |
| Flg2 |
G |
T |
3: 93,127,438 (GRCm39) |
G97* |
probably null |
Het |
| Gm7356 |
A |
G |
17: 14,221,537 (GRCm39) |
I164T |
probably damaging |
Het |
| Gucy1a2 |
T |
A |
9: 3,894,719 (GRCm39) |
|
probably benign |
Het |
| Heatr5b |
C |
T |
17: 79,122,969 (GRCm39) |
R670H |
probably damaging |
Het |
| Hspa4l |
T |
C |
3: 40,727,090 (GRCm39) |
V476A |
possibly damaging |
Het |
| Kcnk3 |
T |
C |
5: 30,779,324 (GRCm39) |
F125L |
probably damaging |
Het |
| Kif12 |
T |
A |
4: 63,086,033 (GRCm39) |
M411L |
probably benign |
Het |
| Krtap24-1 |
T |
C |
16: 88,409,094 (GRCm39) |
S11G |
probably benign |
Het |
| Lilra6 |
A |
T |
7: 3,915,991 (GRCm39) |
H289Q |
possibly damaging |
Het |
| Musk |
A |
C |
4: 58,356,496 (GRCm39) |
N469H |
probably benign |
Het |
| Myom1 |
A |
G |
17: 71,413,349 (GRCm39) |
|
probably benign |
Het |
| Nagpa |
A |
G |
16: 5,019,357 (GRCm39) |
V46A |
possibly damaging |
Het |
| Or4k37 |
T |
A |
2: 111,159,590 (GRCm39) |
Y275* |
probably null |
Het |
| Or5h25 |
T |
A |
16: 58,930,536 (GRCm39) |
T146S |
probably benign |
Het |
| Or8g17 |
T |
C |
9: 38,930,312 (GRCm39) |
N175S |
probably benign |
Het |
| Parp6 |
T |
A |
9: 59,538,021 (GRCm39) |
V222E |
probably benign |
Het |
| Pde3b |
T |
A |
7: 114,105,483 (GRCm39) |
S472T |
probably damaging |
Het |
| Peak1 |
A |
G |
9: 56,134,490 (GRCm39) |
S1314P |
probably damaging |
Het |
| Pgc |
A |
G |
17: 48,039,792 (GRCm39) |
Y62C |
probably damaging |
Het |
| Pitpnm2 |
A |
G |
5: 124,278,665 (GRCm39) |
C189R |
probably damaging |
Het |
| Pla2g15 |
G |
T |
8: 106,886,828 (GRCm39) |
Q106H |
probably benign |
Het |
| Pla2g4c |
T |
A |
7: 13,064,019 (GRCm39) |
S93T |
probably damaging |
Het |
| Rbks |
G |
T |
5: 31,809,145 (GRCm39) |
|
probably benign |
Het |
| Retsat |
A |
G |
6: 72,580,642 (GRCm39) |
T207A |
possibly damaging |
Het |
| Slc25a32 |
A |
G |
15: 38,963,300 (GRCm39) |
Y174H |
probably benign |
Het |
| Slc35f2 |
T |
A |
9: 53,717,026 (GRCm39) |
|
probably benign |
Het |
| Snx19 |
A |
G |
9: 30,343,556 (GRCm39) |
N572S |
possibly damaging |
Het |
| Sos2 |
A |
G |
12: 69,663,958 (GRCm39) |
Y476H |
probably benign |
Het |
| Ssh2 |
A |
T |
11: 77,316,413 (GRCm39) |
N296I |
probably damaging |
Het |
| Sspo |
G |
T |
6: 48,459,601 (GRCm39) |
R3320L |
probably benign |
Het |
| Synj2 |
A |
G |
17: 6,047,192 (GRCm39) |
I166V |
probably benign |
Het |
| Tpp2 |
T |
C |
1: 43,979,391 (GRCm39) |
V96A |
probably benign |
Het |
| Vmn2r3 |
A |
T |
3: 64,183,031 (GRCm39) |
W223R |
probably damaging |
Het |
| Wdr17 |
T |
C |
8: 55,146,089 (GRCm39) |
|
probably null |
Het |
| Zfr2 |
T |
A |
10: 81,080,546 (GRCm39) |
C407S |
probably damaging |
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 |
|
IGL02134:Itpkc
|
APN |
7 |
26,927,300 (GRCm39) |
nonsense |
probably null |
|
|
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