Incidental Mutation 'IGL03183:Impa1'
| ID |
412323 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Impa1
|
| Ensembl Gene |
ENSMUSG00000027531 |
| Gene Name |
inositol (myo)-1(or 4)-monophosphatase 1 |
| Synonyms |
lithium-sensitive myo-inositol monophosphatase A1, 2900059K10Rik, 2610002K09Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03183
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
10377016-10396499 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 10388054 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 123
(Y123H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113860
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065938]
[ENSMUST00000118410]
[ENSMUST00000128912]
[ENSMUST00000191670]
[ENSMUST00000192603]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065938
AA Change: Y123H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000068174
Gene: ENSMUSG00000027531
AA Change: Y123H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Inositol_P
|
5 |
271 |
1.5e-86 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118410
AA Change: Y123H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113860
Gene: ENSMUSG00000027531
AA Change: Y123H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Inositol_P
|
5 |
271 |
7.7e-79 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128912
|
| SMART Domains |
Protein: ENSMUSP00000116088
Gene: ENSMUSG00000027531
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Inositol_P
|
19 |
90 |
4.4e-16 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000191670
AA Change: Y123H
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000141345
Gene: ENSMUSG00000027531
AA Change: Y123H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Inositol_P
|
5 |
180 |
4.7e-49 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192603
|
| SMART Domains |
Protein: ENSMUSP00000141735
Gene: ENSMUSG00000103392
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
69 |
85 |
N/A |
INTRINSIC |
|
| 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 dephosphorylates myo-inositol monophosphate to generate free myo-inositol, a precursor of phosphatidylinositol, and is therefore an important modulator of intracellular signal transduction via the production of the second messengers myoinositol 1,4,5-trisphosphate and diacylglycerol. This enzyme can also use myo-inositol-1,3-diphosphate, myo-inositol-1,4-diphosphate, scyllo-inositol-phosphate, glucose-1-phosphate, glucose-6-phosphate, fructose-1-phosphate, beta-glycerophosphate, and 2'-AMP as substrates. This enzyme shows magnesium-dependent phosphatase activity and is inhibited by therapeutic concentrations of lithium. Inhibition of inositol monophosphate hydroylosis and subsequent depletion of inositol for phosphatidylinositol synthesis may explain the anti-manic and anti-depressive effects of lithium administered to treat bipolar disorder. Alternative splicing results in multiple transcript variants encoding distinct isoforms. A pseudogene of this gene is also present on chromosome 8q21.13. [provided by RefSeq, Dec 2014]
PHENOTYPE: Most mice homozygous for a knock-out allele die between E9.5 and E10.5 with surviving mice exhibiting hyperactivity, increased rearing, and increased susceptibility to pilocarpine-induced seizures. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh6a1 |
A |
G |
12: 84,483,214 (GRCm39) |
|
probably null |
Het |
| Ano2 |
A |
T |
6: 125,687,592 (GRCm39) |
K32N |
probably benign |
Het |
| Asic1 |
A |
G |
15: 99,569,898 (GRCm39) |
H73R |
probably benign |
Het |
| B3glct |
A |
G |
5: 149,677,607 (GRCm39) |
D412G |
probably damaging |
Het |
| Baz2b |
T |
C |
2: 59,733,640 (GRCm39) |
I1891V |
probably benign |
Het |
| Cc2d2a |
A |
G |
5: 43,889,721 (GRCm39) |
E1278G |
probably damaging |
Het |
| Ccdc116 |
T |
C |
16: 16,960,718 (GRCm39) |
E33G |
probably benign |
Het |
| Celf4 |
T |
A |
18: 25,670,796 (GRCm39) |
Q129L |
probably benign |
Het |
| Celf4 |
G |
T |
18: 25,670,797 (GRCm39) |
Q129K |
probably benign |
Het |
| Cfap251 |
A |
G |
5: 123,392,682 (GRCm39) |
|
probably benign |
Het |
| Col18a1 |
A |
G |
10: 76,909,588 (GRCm39) |
S817P |
probably damaging |
Het |
| Corin |
A |
G |
5: 72,458,929 (GRCm39) |
V940A |
probably damaging |
Het |
| Dlgap2 |
A |
T |
8: 14,777,525 (GRCm39) |
N257Y |
possibly damaging |
Het |
| Dnah2 |
C |
A |
11: 69,349,314 (GRCm39) |
V2441L |
possibly damaging |
Het |
| Evpl |
C |
T |
11: 116,112,438 (GRCm39) |
E1751K |
probably damaging |
Het |
| Fat1 |
G |
A |
8: 45,403,623 (GRCm39) |
E125K |
probably damaging |
Het |
| Fras1 |
A |
T |
5: 96,881,640 (GRCm39) |
|
probably benign |
Het |
| Fryl |
G |
A |
5: 73,234,038 (GRCm39) |
P1496S |
probably benign |
Het |
| G3bp2 |
A |
C |
5: 92,202,905 (GRCm39) |
M362R |
possibly damaging |
Het |
| Grk5 |
T |
C |
19: 61,057,774 (GRCm39) |
F158S |
probably damaging |
Het |
| Hmbox1 |
G |
T |
14: 65,125,048 (GRCm39) |
Q188K |
probably damaging |
Het |
| Ift172 |
A |
T |
5: 31,429,348 (GRCm39) |
D604E |
probably benign |
Het |
| Igkv6-32 |
T |
A |
6: 70,051,556 (GRCm39) |
T5S |
probably benign |
Het |
| Itgb4 |
C |
T |
11: 115,879,550 (GRCm39) |
T612M |
probably damaging |
Het |
| Med12l |
T |
A |
3: 58,944,976 (GRCm39) |
|
probably null |
Het |
| Meis2 |
A |
G |
2: 115,890,002 (GRCm39) |
L160S |
probably damaging |
Het |
| Micu1 |
C |
T |
10: 59,563,870 (GRCm39) |
R31* |
probably null |
Het |
| Nlrp9a |
G |
T |
7: 26,256,882 (GRCm39) |
A167S |
probably damaging |
Het |
| Or10j27 |
A |
G |
1: 172,958,425 (GRCm39) |
Y120H |
probably damaging |
Het |
| Or4d10 |
A |
T |
19: 12,051,392 (GRCm39) |
N201K |
probably damaging |
Het |
| Plpp6 |
A |
G |
19: 28,942,071 (GRCm39) |
N224S |
possibly damaging |
Het |
| Sdk2 |
T |
A |
11: 113,741,810 (GRCm39) |
H803L |
probably benign |
Het |
| Shld2 |
T |
C |
14: 33,967,143 (GRCm39) |
T690A |
probably benign |
Het |
| Slc36a1 |
T |
A |
11: 55,119,017 (GRCm39) |
Y331N |
probably damaging |
Het |
| Spata31d1c |
A |
T |
13: 65,183,009 (GRCm39) |
I184F |
possibly damaging |
Het |
| Stat3 |
T |
C |
11: 100,793,582 (GRCm39) |
I338V |
possibly damaging |
Het |
| Stk10 |
T |
A |
11: 32,554,143 (GRCm39) |
V610E |
possibly damaging |
Het |
| Syna |
A |
G |
5: 134,587,144 (GRCm39) |
S602P |
probably benign |
Het |
| Tap2 |
T |
A |
17: 34,424,399 (GRCm39) |
|
probably benign |
Het |
| Tln1 |
T |
C |
4: 43,539,084 (GRCm39) |
|
probably benign |
Het |
| Tra2b |
C |
A |
16: 22,073,303 (GRCm39) |
|
probably benign |
Het |
| Ttc7b |
T |
C |
12: 100,339,968 (GRCm39) |
|
probably null |
Het |
| Vmn2r121 |
G |
A |
X: 123,042,023 (GRCm39) |
T378I |
probably benign |
Het |
| Wdr1 |
A |
T |
5: 38,690,825 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Impa1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01777:Impa1
|
APN |
3 |
10,388,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02411:Impa1
|
APN |
3 |
10,388,018 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02733:Impa1
|
APN |
3 |
10,394,025 (GRCm39) |
missense |
probably benign |
|
|
lofty
|
UTSW |
3 |
10,394,064 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
olympian
|
UTSW |
3 |
10,380,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0166:Impa1
|
UTSW |
3 |
10,394,020 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0782:Impa1
|
UTSW |
3 |
10,387,956 (GRCm39) |
splice site |
probably benign |
|
|
R1645:Impa1
|
UTSW |
3 |
10,393,501 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R3196:Impa1
|
UTSW |
3 |
10,394,075 (GRCm39) |
splice site |
probably null |
|
|
R3905:Impa1
|
UTSW |
3 |
10,381,094 (GRCm39) |
missense |
probably benign |
|
|
R4953:Impa1
|
UTSW |
3 |
10,380,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5495:Impa1
|
UTSW |
3 |
10,391,230 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5884:Impa1
|
UTSW |
3 |
10,381,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5972:Impa1
|
UTSW |
3 |
10,394,064 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R6927:Impa1
|
UTSW |
3 |
10,380,348 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7605:Impa1
|
UTSW |
3 |
10,389,147 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7801:Impa1
|
UTSW |
3 |
10,386,727 (GRCm39) |
missense |
probably benign |
|
|
R8086:Impa1
|
UTSW |
3 |
10,387,988 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8190:Impa1
|
UTSW |
3 |
10,386,688 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R9685:Impa1
|
UTSW |
3 |
10,393,430 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0054:Impa1
|
UTSW |
3 |
10,381,160 (GRCm39) |
splice site |
probably null |
|
|
Z1177:Impa1
|
UTSW |
3 |
10,381,134 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Posted On |
2016-08-02 |
Incidental Mutation