Incidental Mutation 'R3851:Itpkc'
| ID |
275920 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itpkc
|
| Ensembl Gene |
ENSMUSG00000003752 |
| Gene Name |
inositol 1,4,5-trisphosphate 3-kinase C |
| Synonyms |
9130023N17Rik |
| MMRRC Submission |
040899-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.361)
|
| Stock # |
R3851 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
26906595-26928042 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 26927037 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 292
(N292K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003850
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003850]
|
| AlphaFold |
Q7TS72 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003850
AA Change: N292K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000003850
Gene: ENSMUSG00000003752
AA Change: N292K
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (36/36) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap1 |
G |
A |
7: 101,039,372 (GRCm39) |
W544* |
probably null |
Het |
| AY358078 |
A |
G |
14: 52,043,010 (GRCm39) |
T233A |
unknown |
Het |
| Bcl9 |
G |
A |
3: 97,116,969 (GRCm39) |
P575L |
probably damaging |
Het |
| Calcr |
T |
C |
6: 3,693,735 (GRCm39) |
Y353C |
probably damaging |
Het |
| Cry1 |
C |
A |
10: 84,982,363 (GRCm39) |
A328S |
probably benign |
Het |
| Dclre1a |
A |
T |
19: 56,529,939 (GRCm39) |
N799K |
probably damaging |
Het |
| Dnm3 |
A |
T |
1: 162,148,696 (GRCm39) |
|
probably null |
Het |
| Dock9 |
A |
T |
14: 121,866,498 (GRCm39) |
|
probably null |
Het |
| Dpysl4 |
C |
T |
7: 138,680,851 (GRCm39) |
T575M |
probably damaging |
Het |
| Drc7 |
C |
T |
8: 95,788,464 (GRCm39) |
Q276* |
probably null |
Het |
| Dzip3 |
T |
C |
16: 48,770,376 (GRCm39) |
T389A |
possibly damaging |
Het |
| Flnc |
T |
A |
6: 29,453,718 (GRCm39) |
L1801Q |
probably damaging |
Het |
| Fmo9 |
A |
G |
1: 166,490,936 (GRCm39) |
L463P |
probably benign |
Het |
| Fnip2 |
G |
C |
3: 79,369,464 (GRCm39) |
H1074D |
probably damaging |
Het |
| Golga2 |
A |
G |
2: 32,195,623 (GRCm39) |
E806G |
probably benign |
Het |
| H2-Q5 |
T |
A |
17: 35,613,115 (GRCm39) |
M5K |
unknown |
Het |
| Il27ra |
C |
T |
8: 84,767,317 (GRCm39) |
E169K |
probably benign |
Het |
| Insyn2a |
A |
G |
7: 134,486,255 (GRCm39) |
V432A |
probably benign |
Het |
| Lhfpl3 |
G |
A |
5: 22,980,985 (GRCm39) |
|
probably benign |
Het |
| Map4k3 |
A |
G |
17: 80,951,752 (GRCm39) |
|
probably benign |
Het |
| Mas1 |
C |
G |
17: 13,060,880 (GRCm39) |
S181T |
probably benign |
Het |
| Ntn1 |
C |
G |
11: 68,276,619 (GRCm39) |
D110H |
probably damaging |
Het |
| Nubpl |
T |
C |
12: 52,190,810 (GRCm39) |
M65T |
probably damaging |
Het |
| Or6c76b |
A |
C |
10: 129,693,016 (GRCm39) |
M210L |
probably benign |
Het |
| Parp14 |
A |
G |
16: 35,674,118 (GRCm39) |
I1042T |
possibly damaging |
Het |
| Pcdh15 |
C |
A |
10: 74,467,518 (GRCm39) |
S1779Y |
probably damaging |
Het |
| Pgm5 |
C |
T |
19: 24,797,567 (GRCm39) |
R205Q |
probably damaging |
Het |
| Radil |
T |
C |
5: 142,492,752 (GRCm39) |
D292G |
probably damaging |
Het |
| Rbp3 |
C |
A |
14: 33,677,464 (GRCm39) |
H471N |
probably damaging |
Het |
| Rgs14 |
T |
A |
13: 55,527,427 (GRCm39) |
L221Q |
possibly damaging |
Het |
| Rrm2 |
G |
T |
12: 24,758,598 (GRCm39) |
A47S |
probably benign |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Slco4a1 |
C |
T |
2: 180,105,884 (GRCm39) |
T22M |
probably benign |
Het |
| Sult2b1 |
G |
T |
7: 45,379,461 (GRCm39) |
|
probably benign |
Het |
| Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
| Ttn |
G |
T |
2: 76,581,678 (GRCm39) |
L23072I |
possibly damaging |
Het |
| Zfp521 |
T |
C |
18: 13,850,808 (GRCm39) |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTCAGATTCATCAAAAGAGGAGGC -3'
(R):5'- GAATTGTCCGCGGATGCTTC -3'
Sequencing Primer
(F):5'- AAGAGAAGCCGCCAGTGCC -3'
(R):5'- GATGCTTCCAGGACTCCACATG -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation