Incidental Mutation 'R6012:Itpkc'
| ID |
479812 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itpkc
|
| Ensembl Gene |
ENSMUSG00000003752 |
| Gene Name |
inositol 1,4,5-trisphosphate 3-kinase C |
| Synonyms |
9130023N17Rik |
| MMRRC Submission |
044188-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.355)
|
| Stock # |
R6012 (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 T
at 26927490 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 141
(D141E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003850
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003850]
[ENSMUST00000003860]
|
| AlphaFold |
Q7TS72 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000003850
AA Change: D141E
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000003850
Gene: ENSMUSG00000003752
AA Change: D141E
| 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
|
| Meta Mutation Damage Score |
0.0965 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.4%
|
| Validation Efficiency |
100% (55/55) |
| 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 |
|---|
| Abat |
T |
A |
16: 8,400,691 (GRCm39) |
Y97N |
probably damaging |
Het |
| Adrm1b |
C |
A |
3: 92,336,791 (GRCm39) |
|
probably null |
Het |
| Akr1b10 |
A |
T |
6: 34,364,715 (GRCm39) |
I59F |
probably damaging |
Het |
| Als2 |
A |
T |
1: 59,224,374 (GRCm39) |
D1076E |
probably damaging |
Het |
| Bank1 |
T |
C |
3: 135,919,598 (GRCm39) |
D266G |
probably benign |
Het |
| Bmp2k |
T |
A |
5: 97,211,467 (GRCm39) |
|
probably null |
Het |
| Cdc42bpa |
A |
G |
1: 179,892,655 (GRCm39) |
Y273C |
probably damaging |
Het |
| Chfr |
G |
T |
5: 110,292,517 (GRCm39) |
|
probably null |
Het |
| Dapk1 |
A |
T |
13: 60,909,476 (GRCm39) |
Q1363L |
probably benign |
Het |
| Ddx23 |
A |
T |
15: 98,548,651 (GRCm39) |
D352E |
possibly damaging |
Het |
| Ect2 |
T |
C |
3: 27,152,474 (GRCm39) |
|
probably benign |
Het |
| Efcab10 |
A |
C |
12: 33,448,592 (GRCm39) |
D107A |
probably damaging |
Het |
| Fcgr4 |
G |
A |
1: 170,853,233 (GRCm39) |
G146D |
possibly damaging |
Het |
| Fgd5 |
A |
G |
6: 91,966,322 (GRCm39) |
T694A |
possibly damaging |
Het |
| Ghr |
T |
C |
15: 3,370,409 (GRCm39) |
D152G |
probably damaging |
Het |
| Gli2 |
A |
C |
1: 118,765,445 (GRCm39) |
L902R |
probably damaging |
Het |
| Glis2 |
G |
A |
16: 4,429,172 (GRCm39) |
G125D |
possibly damaging |
Het |
| Gmcl1 |
A |
G |
6: 86,698,394 (GRCm39) |
Y168H |
probably damaging |
Het |
| Golga4 |
A |
G |
9: 118,388,764 (GRCm39) |
K1962R |
possibly damaging |
Het |
| Hebp1 |
T |
A |
6: 135,145,055 (GRCm39) |
E14V |
probably damaging |
Het |
| Hhla1 |
A |
C |
15: 65,820,339 (GRCm39) |
I137S |
probably damaging |
Het |
| Hivep1 |
A |
G |
13: 42,337,934 (GRCm39) |
H2671R |
possibly damaging |
Het |
| Hltf |
A |
G |
3: 20,113,098 (GRCm39) |
Y19C |
probably damaging |
Het |
| Hsd3b2 |
A |
T |
3: 98,619,333 (GRCm39) |
M204K |
probably benign |
Het |
| Hspa4l |
A |
T |
3: 40,736,031 (GRCm39) |
I551F |
probably benign |
Het |
| Kcnc3 |
A |
G |
7: 44,248,296 (GRCm39) |
D757G |
probably benign |
Het |
| Mettl16 |
A |
T |
11: 74,678,474 (GRCm39) |
Y141F |
probably damaging |
Het |
| Mfng |
G |
A |
15: 78,640,840 (GRCm39) |
R302C |
probably damaging |
Het |
| Mogs |
T |
A |
6: 83,094,363 (GRCm39) |
S393R |
probably damaging |
Het |
| Mrps28 |
A |
G |
3: 8,965,044 (GRCm39) |
|
probably null |
Het |
| Nfat5 |
T |
C |
8: 108,093,765 (GRCm39) |
S150P |
probably benign |
Het |
| Or2w1 |
T |
C |
13: 21,316,978 (GRCm39) |
V11A |
probably benign |
Het |
| Or7d10 |
A |
T |
9: 19,832,237 (GRCm39) |
H244L |
probably damaging |
Het |
| Pcdh12 |
A |
G |
18: 38,416,805 (GRCm39) |
S107P |
probably damaging |
Het |
| Phf21a |
G |
A |
2: 92,182,120 (GRCm39) |
D463N |
probably damaging |
Het |
| Picalm |
A |
C |
7: 89,844,908 (GRCm39) |
I567L |
probably benign |
Het |
| Pla2g4a |
T |
A |
1: 149,808,428 (GRCm39) |
D5V |
possibly damaging |
Het |
| Sspo |
C |
T |
6: 48,428,305 (GRCm39) |
T222M |
probably benign |
Het |
| Stard9 |
T |
C |
2: 120,535,067 (GRCm39) |
S3775P |
probably damaging |
Het |
| Stk31 |
A |
T |
6: 49,446,243 (GRCm39) |
D982V |
probably damaging |
Het |
| Tas2r113 |
C |
T |
6: 132,870,644 (GRCm39) |
T224I |
probably damaging |
Het |
| Tbc1d15 |
T |
C |
10: 115,055,112 (GRCm39) |
D310G |
probably damaging |
Het |
| Tcf12 |
G |
T |
9: 71,766,229 (GRCm39) |
T468K |
possibly damaging |
Het |
| Tenm4 |
A |
G |
7: 96,171,640 (GRCm39) |
|
probably benign |
Het |
| Tet2 |
A |
G |
3: 133,172,542 (GRCm39) |
Y1907H |
possibly damaging |
Het |
| Thsd7a |
T |
C |
6: 12,379,388 (GRCm39) |
|
probably null |
Het |
| Tln1 |
T |
A |
4: 43,539,508 (GRCm39) |
T1605S |
probably benign |
Het |
| Trp53bp1 |
T |
C |
2: 121,087,083 (GRCm39) |
Y191C |
probably benign |
Het |
| Ugcg |
T |
A |
4: 59,220,272 (GRCm39) |
I355N |
probably damaging |
Het |
| Vmn1r21 |
A |
T |
6: 57,820,891 (GRCm39) |
D184E |
probably damaging |
Het |
| Vsig10l |
T |
A |
7: 43,117,439 (GRCm39) |
D575E |
probably damaging |
Het |
| Zan |
G |
A |
5: 137,462,791 (GRCm39) |
T796I |
unknown |
Het |
| Zfp639 |
A |
G |
3: 32,573,271 (GRCm39) |
D61G |
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 |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACTTGATTCTGGTGAGAGGCAG -3'
(R):5'- AACGGTCCACAGGCAGAATC -3'
Sequencing Primer
(F):5'- TGGAGTTTGGACACGCC -3'
(R):5'- ATCCTGTGGAGATGGACACGC -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation