Incidental Mutation 'IGL02247:Itpk1'
| ID |
286234 |
| 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 # |
IGL02247
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
102534842-102671128 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 102589668 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 74
(P74Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137275
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046518]
[ENSMUST00000178697]
[ENSMUST00000179210]
[ENSMUST00000191320]
|
| AlphaFold |
Q8BYN3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046518
AA Change: P46Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000046027
Gene: ENSMUSG00000057963
AA Change: P46Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ins134_P3_kin
|
1 |
318 |
2.8e-142 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000178697
AA Change: P74Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000137275
Gene: ENSMUSG00000057963
AA Change: P74Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ins134_P3_kin
|
1 |
48 |
1.4e-15 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000178938
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl2 |
A |
G |
2: 26,974,905 (GRCm39) |
R177G |
probably damaging |
Het |
| Ap3b1 |
T |
C |
13: 94,531,303 (GRCm39) |
|
probably null |
Het |
| Ascc3 |
A |
C |
10: 50,526,686 (GRCm39) |
K595T |
probably damaging |
Het |
| Cnpy4 |
A |
G |
5: 138,191,125 (GRCm39) |
T234A |
probably benign |
Het |
| Col13a1 |
T |
C |
10: 61,797,124 (GRCm39) |
Y101C |
probably damaging |
Het |
| Crybg3 |
A |
G |
16: 59,323,513 (GRCm39) |
I2809T |
probably damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Dgkz |
T |
C |
2: 91,767,805 (GRCm39) |
S824G |
probably benign |
Het |
| Dsg1c |
T |
A |
18: 20,397,373 (GRCm39) |
I27N |
probably damaging |
Het |
| Efhb |
C |
T |
17: 53,708,652 (GRCm39) |
V673I |
probably benign |
Het |
| Egr1 |
T |
C |
18: 34,995,916 (GRCm39) |
Y233H |
possibly damaging |
Het |
| Fam184a |
T |
C |
10: 53,551,256 (GRCm39) |
E237G |
probably damaging |
Het |
| Galt |
A |
G |
4: 41,755,623 (GRCm39) |
|
probably benign |
Het |
| Gm4795 |
T |
C |
10: 44,883,211 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6563 |
G |
A |
19: 23,653,392 (GRCm39) |
E61K |
possibly damaging |
Het |
| Igkv1-133 |
G |
A |
6: 67,702,590 (GRCm39) |
V103M |
probably damaging |
Het |
| Iqcb1 |
T |
A |
16: 36,660,258 (GRCm39) |
H140Q |
probably benign |
Het |
| Itpr3 |
T |
A |
17: 27,317,153 (GRCm39) |
W803R |
probably damaging |
Het |
| Lgr4 |
A |
T |
2: 109,832,846 (GRCm39) |
D312V |
probably benign |
Het |
| Lgr4 |
C |
T |
2: 109,838,420 (GRCm39) |
|
probably benign |
Het |
| Lyst |
G |
A |
13: 13,835,541 (GRCm39) |
C1741Y |
probably benign |
Het |
| Mllt6 |
C |
A |
11: 97,561,158 (GRCm39) |
A282E |
probably benign |
Het |
| Mtif2 |
T |
C |
11: 29,490,642 (GRCm39) |
S449P |
possibly damaging |
Het |
| Nrg3 |
T |
C |
14: 38,093,269 (GRCm39) |
I533M |
probably damaging |
Het |
| Nynrin |
C |
T |
14: 56,109,167 (GRCm39) |
Q1425* |
probably null |
Het |
| Or12e13 |
A |
G |
2: 87,663,873 (GRCm39) |
I163M |
probably damaging |
Het |
| Or1e1f |
A |
T |
11: 73,855,688 (GRCm39) |
M85L |
probably benign |
Het |
| Or4n4b |
T |
A |
14: 50,536,571 (GRCm39) |
N65I |
probably damaging |
Het |
| Or4p22 |
C |
T |
2: 88,317,771 (GRCm39) |
H232Y |
probably benign |
Het |
| Or56a3 |
T |
A |
7: 104,735,530 (GRCm39) |
Y202* |
probably null |
Het |
| Or5b3 |
T |
A |
19: 13,388,831 (GRCm39) |
S299R |
probably benign |
Het |
| Or7e175 |
G |
A |
9: 20,048,516 (GRCm39) |
V35I |
probably benign |
Het |
| Plcb4 |
C |
T |
2: 135,836,245 (GRCm39) |
T20I |
possibly damaging |
Het |
| Ppp1r12b |
G |
T |
1: 134,763,721 (GRCm39) |
T771K |
probably benign |
Het |
| Prss22 |
T |
C |
17: 24,215,363 (GRCm39) |
T138A |
probably benign |
Het |
| Ros1 |
A |
T |
10: 52,005,677 (GRCm39) |
S907T |
probably damaging |
Het |
| Rtel1 |
T |
A |
2: 180,993,134 (GRCm39) |
Y521* |
probably null |
Het |
| Sacs |
T |
C |
14: 61,429,984 (GRCm39) |
F678S |
probably damaging |
Het |
| Smtnl1 |
A |
T |
2: 84,647,372 (GRCm39) |
|
probably benign |
Het |
| Sumf2 |
T |
C |
5: 129,888,986 (GRCm39) |
V258A |
probably damaging |
Het |
| Tas1r2 |
A |
T |
4: 139,396,827 (GRCm39) |
Y722F |
probably damaging |
Het |
| Tecpr1 |
A |
G |
5: 144,143,372 (GRCm39) |
F668L |
possibly damaging |
Het |
| Timd4 |
T |
C |
11: 46,706,558 (GRCm39) |
F120S |
probably damaging |
Het |
| Tnnt3 |
T |
C |
7: 142,062,062 (GRCm39) |
|
probably benign |
Het |
| Trp53bp1 |
G |
A |
2: 121,067,070 (GRCm39) |
S552F |
probably damaging |
Het |
| Txlnb |
G |
A |
10: 17,706,090 (GRCm39) |
R333Q |
possibly damaging |
Het |
| Txlnb |
A |
G |
10: 17,717,276 (GRCm39) |
|
probably benign |
Het |
| Uroc1 |
A |
G |
6: 90,324,910 (GRCm39) |
E461G |
probably benign |
Het |
| Vps45 |
G |
A |
3: 95,950,236 (GRCm39) |
T231I |
probably damaging |
Het |
| Zfp648 |
T |
A |
1: 154,079,923 (GRCm39) |
S27R |
probably benign |
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 |
|
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 |
2015-04-16 |
Incidental Mutation