Incidental Mutation 'IGL01306:Itpk1'
| ID |
73451 |
| 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: 0.920)
|
| Stock # |
IGL01306
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
102534842-102671128 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 102572362 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 117
(E117G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046027
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046518]
[ENSMUST00000179210]
[ENSMUST00000191320]
|
| AlphaFold |
Q8BYN3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046518
AA Change: E117G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000046027
Gene: ENSMUSG00000057963
AA Change: E117G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ins134_P3_kin
|
1 |
318 |
2.8e-142 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179210
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191320
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd12b |
G |
A |
12: 70,215,822 (GRCm39) |
G88S |
probably damaging |
Het |
| Acot10 |
A |
G |
15: 20,666,051 (GRCm39) |
F230S |
probably benign |
Het |
| Ago4 |
T |
C |
4: 126,409,677 (GRCm39) |
|
probably null |
Het |
| Akap12 |
G |
T |
10: 4,303,273 (GRCm39) |
A28S |
probably benign |
Het |
| Anks1 |
C |
A |
17: 28,205,227 (GRCm39) |
T262K |
probably damaging |
Het |
| Arfgap3 |
A |
G |
15: 83,197,710 (GRCm39) |
Y349H |
possibly damaging |
Het |
| Bltp1 |
T |
C |
3: 37,059,162 (GRCm39) |
|
probably benign |
Het |
| Camsap2 |
T |
A |
1: 136,225,528 (GRCm39) |
E199D |
probably benign |
Het |
| Ccdc13 |
A |
T |
9: 121,656,429 (GRCm39) |
M128K |
probably benign |
Het |
| Ccdc38 |
T |
C |
10: 93,405,797 (GRCm39) |
|
probably null |
Het |
| Cep95 |
G |
A |
11: 106,704,641 (GRCm39) |
V499I |
probably benign |
Het |
| Cpne6 |
A |
T |
14: 55,752,706 (GRCm39) |
I299F |
probably damaging |
Het |
| Cse1l |
T |
A |
2: 166,769,428 (GRCm39) |
Y278* |
probably null |
Het |
| Dip2c |
A |
G |
13: 9,625,179 (GRCm39) |
N558D |
possibly damaging |
Het |
| Edar |
A |
T |
10: 58,464,460 (GRCm39) |
C60S |
probably damaging |
Het |
| Fat2 |
T |
C |
11: 55,201,698 (GRCm39) |
N459D |
probably benign |
Het |
| Fbxw8 |
C |
T |
5: 118,251,785 (GRCm39) |
V243M |
possibly damaging |
Het |
| Fem1b |
G |
A |
9: 62,704,810 (GRCm39) |
A150V |
possibly damaging |
Het |
| Gal3st1 |
A |
G |
11: 3,948,405 (GRCm39) |
Y204C |
probably damaging |
Het |
| Gm5422 |
A |
T |
10: 31,125,432 (GRCm39) |
|
noncoding transcript |
Het |
| Grin2c |
T |
C |
11: 115,147,020 (GRCm39) |
T392A |
probably benign |
Het |
| Kif12 |
G |
T |
4: 63,084,121 (GRCm39) |
P627Q |
probably damaging |
Het |
| Krtap15-1 |
T |
A |
16: 88,626,255 (GRCm39) |
F88L |
probably benign |
Het |
| Mlh1 |
T |
C |
9: 111,081,980 (GRCm39) |
N248D |
possibly damaging |
Het |
| Or2i1 |
T |
C |
17: 37,507,833 (GRCm39) |
N342S |
probably benign |
Het |
| Or4k15 |
A |
G |
14: 50,364,039 (GRCm39) |
N2D |
probably benign |
Het |
| Or52z12 |
T |
C |
7: 103,233,900 (GRCm39) |
Y224H |
probably damaging |
Het |
| Per2 |
T |
C |
1: 91,376,555 (GRCm39) |
H106R |
probably damaging |
Het |
| Pfkl |
T |
A |
10: 77,827,229 (GRCm39) |
T486S |
probably benign |
Het |
| Prkdc |
T |
C |
16: 15,485,595 (GRCm39) |
V474A |
possibly damaging |
Het |
| Scamp4 |
C |
A |
10: 80,445,256 (GRCm39) |
Q34K |
probably damaging |
Het |
| Serpinb3b |
A |
G |
1: 107,082,395 (GRCm39) |
Y290H |
probably damaging |
Het |
| Sft2d2 |
G |
T |
1: 165,011,564 (GRCm39) |
A110E |
probably benign |
Het |
| Siglecf |
T |
A |
7: 43,001,377 (GRCm39) |
L115* |
probably null |
Het |
| Slc6a11 |
C |
T |
6: 114,111,626 (GRCm39) |
T103M |
probably damaging |
Het |
| Slco1a1 |
T |
A |
6: 141,892,313 (GRCm39) |
K18* |
probably null |
Het |
| Spata1 |
A |
T |
3: 146,193,154 (GRCm39) |
Y112* |
probably null |
Het |
| Tbc1d32 |
G |
A |
10: 56,056,620 (GRCm39) |
T440I |
probably benign |
Het |
| Vmn2r111 |
T |
A |
17: 22,787,965 (GRCm39) |
E462V |
probably damaging |
Het |
| Wnt16 |
C |
T |
6: 22,297,934 (GRCm39) |
R267C |
probably damaging |
Het |
| Xylt1 |
A |
C |
7: 117,148,125 (GRCm39) |
S230R |
probably benign |
Het |
|
| Other mutations in Itpk1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02247:Itpk1
|
APN |
12 |
102,589,668 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02998:Itpk1
|
APN |
12 |
102,545,398 (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 |
2013-10-07 |
Incidental Mutation