Incidental Mutation 'R6835:Itpkc'
| ID |
534391 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itpkc
|
| Ensembl Gene |
ENSMUSG00000003752 |
| Gene Name |
inositol 1,4,5-trisphosphate 3-kinase C |
| Synonyms |
9130023N17Rik |
| MMRRC Submission |
044944-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.361)
|
| Stock # |
R6835 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
26906595-26928042 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 26927240 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 225
(S225A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003850
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003850]
|
| AlphaFold |
Q7TS72 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003850
AA Change: S225A
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000003850
Gene: ENSMUSG00000003752
AA Change: S225A
| 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 |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| Validation Efficiency |
100% (44/44) |
| 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 |
|---|
| Actl11 |
A |
G |
9: 107,807,761 (GRCm39) |
R695G |
probably benign |
Het |
| Arhgef4 |
A |
G |
1: 34,845,574 (GRCm39) |
H1533R |
probably damaging |
Het |
| Birc6 |
T |
C |
17: 74,949,499 (GRCm39) |
L3120P |
probably damaging |
Het |
| Cfap46 |
T |
A |
7: 139,232,414 (GRCm39) |
I850F |
probably damaging |
Het |
| Crym |
A |
C |
7: 119,785,868 (GRCm39) |
S311A |
probably benign |
Het |
| Cttn |
T |
C |
7: 144,010,234 (GRCm39) |
|
probably null |
Het |
| Dtnb |
C |
T |
12: 3,682,841 (GRCm39) |
|
probably benign |
Het |
| Edem1 |
T |
C |
6: 108,831,360 (GRCm39) |
V607A |
probably benign |
Het |
| Etfa |
A |
G |
9: 55,403,103 (GRCm39) |
V64A |
probably benign |
Het |
| Fam133b |
A |
G |
5: 3,604,732 (GRCm39) |
T40A |
possibly damaging |
Het |
| Fmn2 |
C |
A |
1: 174,527,235 (GRCm39) |
D1442E |
probably damaging |
Het |
| Gpi1 |
T |
C |
7: 33,926,563 (GRCm39) |
K128E |
possibly damaging |
Het |
| Gpr179 |
A |
T |
11: 97,238,293 (GRCm39) |
F310L |
probably damaging |
Het |
| Hdac7 |
T |
A |
15: 97,700,628 (GRCm39) |
H531L |
probably damaging |
Het |
| Hfm1 |
G |
A |
5: 107,026,681 (GRCm39) |
R145* |
probably null |
Het |
| Hsp90b1 |
A |
T |
10: 86,529,949 (GRCm39) |
D573E |
probably damaging |
Het |
| Hunk |
T |
G |
16: 90,269,412 (GRCm39) |
W243G |
probably damaging |
Het |
| Icam1 |
G |
T |
9: 20,938,421 (GRCm39) |
G327W |
possibly damaging |
Het |
| Ino80d |
C |
A |
1: 63,113,485 (GRCm39) |
A322S |
probably benign |
Het |
| Irag1 |
T |
G |
7: 110,520,541 (GRCm39) |
E278A |
probably damaging |
Het |
| Krt75 |
C |
T |
15: 101,479,472 (GRCm39) |
R286Q |
probably benign |
Het |
| Lmnb2 |
A |
G |
10: 80,745,794 (GRCm39) |
L95P |
probably damaging |
Het |
| Mns1 |
T |
C |
9: 72,360,026 (GRCm39) |
M392T |
probably damaging |
Het |
| Morc3 |
A |
T |
16: 93,644,309 (GRCm39) |
N200I |
probably damaging |
Het |
| Myadm |
T |
C |
7: 3,346,192 (GRCm39) |
V318A |
possibly damaging |
Het |
| Nt5dc1 |
A |
C |
10: 34,186,375 (GRCm39) |
S398A |
probably benign |
Het |
| Or13c7 |
T |
C |
4: 43,854,912 (GRCm39) |
V201A |
probably benign |
Het |
| Or1e31 |
A |
G |
11: 73,690,061 (GRCm39) |
I174T |
possibly damaging |
Het |
| Pcdhga2 |
T |
C |
18: 37,803,842 (GRCm39) |
I562T |
probably damaging |
Het |
| Pcdhgb1 |
T |
A |
18: 37,813,553 (GRCm39) |
C15S |
probably benign |
Het |
| Pikfyve |
T |
G |
1: 65,298,002 (GRCm39) |
L1532R |
probably damaging |
Het |
| Rdh7 |
T |
A |
10: 127,720,608 (GRCm39) |
T255S |
probably benign |
Het |
| Rtel1 |
A |
G |
2: 180,997,746 (GRCm39) |
T1165A |
probably benign |
Het |
| Sdk2 |
C |
T |
11: 113,720,874 (GRCm39) |
A1352T |
probably damaging |
Het |
| Strip2 |
T |
C |
6: 29,941,916 (GRCm39) |
S629P |
probably damaging |
Het |
| Taf5 |
A |
G |
19: 47,065,776 (GRCm39) |
T494A |
possibly damaging |
Het |
| Tek |
T |
G |
4: 94,741,671 (GRCm39) |
N809K |
possibly damaging |
Het |
| Tmbim7 |
A |
T |
5: 3,711,943 (GRCm39) |
T63S |
probably benign |
Het |
| Utrn |
A |
T |
10: 12,603,508 (GRCm39) |
L624Q |
probably damaging |
Het |
| Xbp1 |
A |
G |
11: 5,471,809 (GRCm39) |
|
probably benign |
Het |
| Zbp1 |
T |
A |
2: 173,055,704 (GRCm39) |
|
probably null |
Het |
| Zfp112 |
T |
C |
7: 23,825,231 (GRCm39) |
C400R |
probably damaging |
Het |
| Zfp202 |
C |
T |
9: 40,121,531 (GRCm39) |
|
probably null |
Het |
| Zfp747 |
T |
C |
7: 126,973,219 (GRCm39) |
E317G |
possibly 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 |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCTCCAGGCTCTGATAAATCTAATGG -3'
(R):5'- ATGAGTCCTGGACCGAACTG -3'
Sequencing Primer
(F):5'- AAACGCTGTCATCCCGGAG -3'
(R):5'- CTGGACCGAACTGGACAGATC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation