Incidental Mutation 'R9216:Itpkc'
| ID |
699187 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itpkc
|
| Ensembl Gene |
ENSMUSG00000003752 |
| Gene Name |
inositol 1,4,5-trisphosphate 3-kinase C |
| Synonyms |
9130023N17Rik |
| MMRRC Submission |
068958-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.355)
|
| Stock # |
R9216 (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 26927429 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 162
(C162S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003850
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003850]
|
| AlphaFold |
Q7TS72 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003850
AA Change: C162S
PolyPhen 2
Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000003850
Gene: ENSMUSG00000003752
AA Change: C162S
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (50/50) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap6 |
A |
T |
12: 52,927,668 (GRCm39) |
T193S |
probably benign |
Het |
| Anpep |
T |
C |
7: 79,486,049 (GRCm39) |
T558A |
possibly damaging |
Het |
| Asap2 |
A |
G |
12: 21,263,191 (GRCm39) |
I269V |
probably benign |
Het |
| B3galnt2 |
T |
C |
13: 14,165,423 (GRCm39) |
V273A |
probably benign |
Het |
| Bag3 |
C |
A |
7: 128,143,923 (GRCm39) |
D306E |
possibly damaging |
Het |
| Bahcc1 |
C |
T |
11: 120,177,514 (GRCm39) |
P2076S |
probably damaging |
Het |
| Btbd7 |
A |
C |
12: 102,761,563 (GRCm39) |
L541V |
probably damaging |
Het |
| C6 |
A |
T |
15: 4,820,465 (GRCm39) |
D492V |
probably damaging |
Het |
| Cdhr5 |
C |
T |
7: 140,851,615 (GRCm39) |
S563N |
possibly damaging |
Het |
| Cnn1 |
C |
G |
9: 22,019,474 (GRCm39) |
L281V |
probably benign |
Het |
| Egflam |
G |
A |
15: 7,281,942 (GRCm39) |
T398I |
probably benign |
Het |
| Eif4g2 |
T |
G |
7: 110,673,415 (GRCm39) |
D788A |
probably benign |
Het |
| Elavl4 |
T |
C |
4: 110,108,546 (GRCm39) |
E66G |
probably damaging |
Het |
| Fbxw16 |
T |
A |
9: 109,276,887 (GRCm39) |
D87V |
probably damaging |
Het |
| Fsip2 |
A |
T |
2: 82,820,425 (GRCm39) |
D5386V |
probably damaging |
Het |
| Ftl1 |
A |
C |
7: 45,108,959 (GRCm39) |
S33A |
probably benign |
Het |
| Gm21560 |
T |
C |
14: 6,218,338 (GRCm38) |
R47G |
probably damaging |
Het |
| Katnip |
T |
A |
7: 125,471,926 (GRCm39) |
I1531N |
probably damaging |
Het |
| Kremen2 |
C |
T |
17: 23,962,781 (GRCm39) |
A102T |
probably damaging |
Het |
| L3mbtl1 |
A |
T |
2: 162,806,972 (GRCm39) |
Q480L |
probably benign |
Het |
| Lyst |
T |
C |
13: 13,823,188 (GRCm39) |
C1387R |
probably benign |
Het |
| Nmi |
A |
G |
2: 51,846,003 (GRCm39) |
V93A |
probably damaging |
Het |
| Ntn1 |
T |
C |
11: 68,117,397 (GRCm39) |
K484R |
possibly damaging |
Het |
| Olig1 |
T |
C |
16: 91,066,915 (GRCm39) |
S51P |
probably benign |
Het |
| Or6c76 |
A |
T |
10: 129,611,796 (GRCm39) |
R4S |
probably benign |
Het |
| Pah |
G |
T |
10: 87,357,888 (GRCm39) |
V4F |
probably benign |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Pramel39-ps |
A |
T |
5: 94,450,952 (GRCm39) |
N391K |
possibly damaging |
Het |
| Prox1 |
C |
A |
1: 189,892,905 (GRCm39) |
E513D |
possibly damaging |
Het |
| Psd3 |
T |
C |
8: 68,573,539 (GRCm39) |
N214S |
probably benign |
Het |
| Rhobtb1 |
A |
G |
10: 69,108,628 (GRCm39) |
S505G |
probably benign |
Het |
| Ryr1 |
A |
T |
7: 28,801,277 (GRCm39) |
L829H |
probably damaging |
Het |
| Sec16a |
A |
T |
2: 26,304,401 (GRCm39) |
D852E |
|
Het |
| Senp2 |
T |
C |
16: 21,847,344 (GRCm39) |
|
probably null |
Het |
| Sf3b1 |
A |
G |
1: 55,051,376 (GRCm39) |
V184A |
probably benign |
Het |
| Skint5 |
T |
C |
4: 113,392,955 (GRCm39) |
T1226A |
unknown |
Het |
| Slc1a6 |
G |
A |
10: 78,637,692 (GRCm39) |
R406H |
probably damaging |
Het |
| Slc26a4 |
C |
A |
12: 31,578,659 (GRCm39) |
V665L |
possibly damaging |
Het |
| Spef2 |
T |
C |
15: 9,647,611 (GRCm39) |
Y932C |
probably damaging |
Het |
| Spidr |
T |
A |
16: 15,936,814 (GRCm39) |
N97I |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,748,504 (GRCm39) |
S4182P |
probably damaging |
Het |
| Tubb6 |
T |
C |
18: 67,534,514 (GRCm39) |
S138P |
probably damaging |
Het |
| Ubr2 |
C |
T |
17: 47,292,285 (GRCm39) |
A393T |
probably benign |
Het |
| Utrn |
G |
T |
10: 12,689,229 (GRCm39) |
P19T |
probably benign |
Het |
| Vcl |
T |
G |
14: 21,033,515 (GRCm39) |
L157W |
probably damaging |
Het |
| Vmn1r184 |
A |
T |
7: 25,966,703 (GRCm39) |
I150F |
probably benign |
Het |
| Vmn1r22 |
A |
T |
6: 57,877,257 (GRCm39) |
M240K |
possibly damaging |
Het |
| Vmn2r14 |
A |
T |
5: 109,369,112 (GRCm39) |
S154T |
probably benign |
Het |
| Wbp2 |
T |
C |
11: 115,974,724 (GRCm39) |
N37D |
probably benign |
Het |
| Zfc3h1 |
C |
G |
10: 115,221,528 (GRCm39) |
D142E |
unknown |
Het |
| Zmym6 |
T |
C |
4: 127,002,500 (GRCm39) |
V577A |
probably benign |
Het |
| Zxdc |
C |
A |
6: 90,359,189 (GRCm39) |
T607K |
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 |
|
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 |
|
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'- CCGGAGTTATCAGCACTTGATTC -3'
(R):5'- AGAATCCTGTGGAGATGGACAC -3'
Sequencing Primer
(F):5'- ACTTGATTCTGGTGAGAGGCAGAC -3'
(R):5'- AAGCAGCTGGCCTAGTAGTTGC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation