Incidental Mutation 'IGL02998:Itpk1'
ID |
407197 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Itpk1
|
Ensembl Gene |
ENSMUSG00000057963 |
Gene Name |
inositol 1,3,4-triphosphate 5/6 kinase |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.923)
|
Stock # |
IGL02998
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
102534842-102671128 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 102545398 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 235
(V235A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000046027
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046518]
|
AlphaFold |
Q8BYN3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000046518
AA Change: V235A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000046027 Gene: ENSMUSG00000057963 AA Change: V235A
Domain | Start | End | E-Value | Type |
Pfam:Ins134_P3_kin
|
1 |
318 |
2.8e-142 |
PFAM |
|
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 an enzyme that belongs to the inositol 1,3,4-trisphosphate 5/6-kinase family. This enzyme regulates the synthesis of inositol tetraphosphate, and downstream products, inositol pentakisphosphate and inositol hexakisphosphate. Inositol metabolism plays a role in the development of the neural tube. Disruptions in this gene are thought to be associated with neural tube defects. A pseudogene of this gene has been identified on chromosome X. [provided by RefSeq, Jul 2016] PHENOTYPE: Some mice homozygous for a gene trap allele exhibit neural tube defects (exencephaly and spina bifida), growth retardation, kyphoscoliosis, and rib formation. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb2 |
C |
T |
4: 129,912,862 (GRCm39) |
A1329V |
probably benign |
Het |
Bhlha9 |
G |
A |
11: 76,563,570 (GRCm39) |
A66T |
probably damaging |
Het |
Dock10 |
G |
A |
1: 80,551,259 (GRCm39) |
R681W |
probably damaging |
Het |
Dst |
T |
C |
1: 34,307,356 (GRCm39) |
L1433P |
probably damaging |
Het |
Ercc6 |
A |
G |
14: 32,279,814 (GRCm39) |
I610V |
probably benign |
Het |
Fras1 |
T |
C |
5: 96,850,040 (GRCm39) |
F1859S |
possibly damaging |
Het |
Gad1 |
A |
G |
2: 70,420,163 (GRCm39) |
Y349C |
probably damaging |
Het |
Galnt1 |
T |
A |
18: 24,397,469 (GRCm39) |
I190N |
probably damaging |
Het |
Gm28042 |
G |
A |
2: 119,870,635 (GRCm39) |
V768I |
possibly damaging |
Het |
Gm8220 |
T |
C |
14: 44,525,765 (GRCm39) |
|
probably null |
Het |
Higd1a |
A |
G |
9: 121,678,690 (GRCm39) |
|
probably benign |
Het |
Itga4 |
T |
A |
2: 79,108,165 (GRCm39) |
Y206N |
possibly damaging |
Het |
Itpka |
A |
G |
2: 119,581,242 (GRCm39) |
Q425R |
possibly damaging |
Het |
Kpna6 |
T |
A |
4: 129,549,297 (GRCm39) |
I162F |
probably benign |
Het |
Msantd1 |
A |
G |
5: 35,078,768 (GRCm39) |
D101G |
probably damaging |
Het |
Ntrk3 |
T |
C |
7: 78,227,405 (GRCm39) |
I43V |
probably damaging |
Het |
Pias3 |
G |
A |
3: 96,609,495 (GRCm39) |
E271K |
probably damaging |
Het |
Pparg |
A |
G |
6: 115,440,049 (GRCm39) |
I178V |
probably benign |
Het |
Rxfp3 |
A |
T |
15: 11,037,054 (GRCm39) |
M106K |
probably damaging |
Het |
Scn3b |
G |
A |
9: 40,199,713 (GRCm39) |
V210M |
possibly damaging |
Het |
Shisa3 |
A |
G |
5: 67,765,848 (GRCm39) |
D33G |
possibly damaging |
Het |
Suz12 |
T |
A |
11: 79,920,149 (GRCm39) |
W570R |
probably damaging |
Het |
Vmn2r107 |
A |
T |
17: 20,578,017 (GRCm39) |
K442M |
probably damaging |
Het |
|
Other mutations in Itpk1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01306:Itpk1
|
APN |
12 |
102,572,362 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02247:Itpk1
|
APN |
12 |
102,589,668 (GRCm39) |
missense |
probably damaging |
1.00 |
ANU23:Itpk1
|
UTSW |
12 |
102,572,362 (GRCm39) |
missense |
probably damaging |
1.00 |
R0432:Itpk1
|
UTSW |
12 |
102,572,337 (GRCm39) |
splice site |
probably benign |
|
R0622:Itpk1
|
UTSW |
12 |
102,540,239 (GRCm39) |
missense |
probably damaging |
1.00 |
R0659:Itpk1
|
UTSW |
12 |
102,572,337 (GRCm39) |
splice site |
probably benign |
|
R0835:Itpk1
|
UTSW |
12 |
102,641,707 (GRCm39) |
missense |
probably damaging |
1.00 |
R1171:Itpk1
|
UTSW |
12 |
102,572,378 (GRCm39) |
missense |
probably damaging |
1.00 |
R1812:Itpk1
|
UTSW |
12 |
102,540,317 (GRCm39) |
missense |
probably benign |
0.01 |
R1968:Itpk1
|
UTSW |
12 |
102,641,729 (GRCm39) |
splice site |
probably null |
|
R2277:Itpk1
|
UTSW |
12 |
102,536,519 (GRCm39) |
missense |
probably benign |
|
R2926:Itpk1
|
UTSW |
12 |
102,545,389 (GRCm39) |
missense |
probably damaging |
1.00 |
R4584:Itpk1
|
UTSW |
12 |
102,536,416 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4690:Itpk1
|
UTSW |
12 |
102,572,434 (GRCm39) |
missense |
probably damaging |
0.96 |
R5050:Itpk1
|
UTSW |
12 |
102,671,069 (GRCm39) |
missense |
probably damaging |
1.00 |
R5326:Itpk1
|
UTSW |
12 |
102,540,225 (GRCm39) |
missense |
possibly damaging |
0.49 |
R5801:Itpk1
|
UTSW |
12 |
102,540,204 (GRCm39) |
missense |
probably damaging |
1.00 |
R5945:Itpk1
|
UTSW |
12 |
102,554,812 (GRCm39) |
missense |
probably damaging |
0.97 |
R7262:Itpk1
|
UTSW |
12 |
102,641,712 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7421:Itpk1
|
UTSW |
12 |
102,540,324 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7883:Itpk1
|
UTSW |
12 |
102,572,434 (GRCm39) |
missense |
probably benign |
0.35 |
R8438:Itpk1
|
UTSW |
12 |
102,572,418 (GRCm39) |
start gained |
probably benign |
|
R8886:Itpk1
|
UTSW |
12 |
102,550,604 (GRCm39) |
unclassified |
probably benign |
|
R8947:Itpk1
|
UTSW |
12 |
102,536,582 (GRCm39) |
missense |
probably benign |
0.10 |
R9137:Itpk1
|
UTSW |
12 |
102,540,291 (GRCm39) |
missense |
probably benign |
0.00 |
R9716:Itpk1
|
UTSW |
12 |
102,572,347 (GRCm39) |
critical splice donor site |
probably null |
|
X0058:Itpk1
|
UTSW |
12 |
102,540,283 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2016-08-02 |