Incidental Mutation 'R9685:Impa1'
| ID |
728780 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Impa1
|
| Ensembl Gene |
ENSMUSG00000027531 |
| Gene Name |
inositol (myo)-1(or 4)-monophosphatase 1 |
| Synonyms |
lithium-sensitive myo-inositol monophosphatase A1, 2900059K10Rik, 2610002K09Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9685 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
10377016-10396499 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 10393430 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 58
(I58L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068174
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065938]
[ENSMUST00000078748]
[ENSMUST00000118410]
[ENSMUST00000128912]
[ENSMUST00000191670]
[ENSMUST00000192603]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065938
AA Change: I58L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000068174
Gene: ENSMUSG00000027531
AA Change: I58L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Inositol_P
|
5 |
271 |
1.5e-86 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078748
|
| SMART Domains |
Protein: ENSMUSP00000077808
Gene: ENSMUSG00000058921
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:SBF
|
144 |
328 |
1.1e-34 |
PFAM |
|
transmembrane domain
|
336 |
358 |
N/A |
INTRINSIC |
|
transmembrane domain
|
365 |
384 |
N/A |
INTRINSIC |
|
transmembrane domain
|
394 |
416 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118410
AA Change: I58L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000113860
Gene: ENSMUSG00000027531
AA Change: I58L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Inositol_P
|
5 |
271 |
7.7e-79 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128912
AA Change: I72L
PolyPhen 2
Score 0.218 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000116088
Gene: ENSMUSG00000027531
AA Change: I72L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Inositol_P
|
19 |
90 |
4.4e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191670
AA Change: I58L
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000141345
Gene: ENSMUSG00000027531
AA Change: I58L
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| 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 |
|---|
| 4930453N24Rik |
G |
T |
16: 64,586,823 (GRCm39) |
N300K |
possibly damaging |
Het |
| A130010J15Rik |
G |
A |
1: 192,857,065 (GRCm39) |
R139H |
probably benign |
Het |
| Aanat |
A |
C |
11: 116,487,681 (GRCm39) |
T127P |
possibly damaging |
Het |
| Acp4 |
G |
A |
7: 43,906,733 (GRCm39) |
|
probably benign |
Het |
| Arhgef5 |
T |
G |
6: 43,250,527 (GRCm39) |
I426S |
probably benign |
Het |
| Bcl2a1a |
T |
C |
9: 88,839,185 (GRCm39) |
S28P |
probably benign |
Het |
| Cd163 |
T |
C |
6: 124,288,384 (GRCm39) |
S272P |
possibly damaging |
Het |
| Cdk13 |
C |
A |
13: 17,978,542 (GRCm39) |
R232L |
unknown |
Het |
| Clrn2 |
A |
G |
5: 45,611,331 (GRCm39) |
D60G |
possibly damaging |
Het |
| Cnot6l |
A |
G |
5: 96,230,749 (GRCm39) |
L406P |
probably damaging |
Het |
| Cspg4 |
T |
G |
9: 56,797,622 (GRCm39) |
V1362G |
probably benign |
Het |
| Cspp1 |
C |
T |
1: 10,196,639 (GRCm39) |
S939L |
probably benign |
Het |
| Dcaf1 |
C |
T |
9: 106,713,818 (GRCm39) |
T145I |
probably benign |
Het |
| Ddx28 |
T |
C |
8: 106,736,733 (GRCm39) |
S442G |
probably benign |
Het |
| Dnajc3 |
A |
T |
14: 119,209,775 (GRCm39) |
R283S |
probably benign |
Het |
| Dsc1 |
G |
A |
18: 20,232,087 (GRCm39) |
T307I |
possibly damaging |
Het |
| Elovl5 |
T |
C |
9: 77,868,291 (GRCm39) |
Y68H |
probably damaging |
Het |
| Fam25a |
G |
A |
14: 34,077,266 (GRCm39) |
T17I |
probably damaging |
Het |
| Fryl |
T |
C |
5: 73,216,879 (GRCm39) |
E2137G |
probably damaging |
Het |
| Gm10142 |
A |
G |
10: 77,551,762 (GRCm39) |
Q41R |
unknown |
Het |
| Grm1 |
T |
C |
10: 10,564,775 (GRCm39) |
T1178A |
possibly damaging |
Het |
| Hhip |
A |
T |
8: 80,723,363 (GRCm39) |
H430Q |
probably damaging |
Het |
| Hip1 |
A |
G |
5: 135,478,676 (GRCm39) |
F178L |
probably damaging |
Het |
| Irak4 |
T |
A |
15: 94,451,812 (GRCm39) |
V135E |
probably benign |
Het |
| Jup |
A |
C |
11: 100,274,237 (GRCm39) |
L151R |
probably damaging |
Het |
| Lrrn4cl |
T |
A |
19: 8,829,419 (GRCm39) |
N132K |
probably damaging |
Het |
| Mapkbp1 |
C |
A |
2: 119,851,664 (GRCm39) |
R863S |
probably benign |
Het |
| Or8k16 |
T |
C |
2: 85,519,866 (GRCm39) |
F31S |
probably damaging |
Het |
| Pramel14 |
T |
A |
4: 143,719,520 (GRCm39) |
M282L |
probably benign |
Het |
| Rasa4 |
A |
G |
5: 136,124,383 (GRCm39) |
D144G |
probably benign |
Het |
| Rrs1 |
T |
A |
1: 9,616,390 (GRCm39) |
S214R |
probably benign |
Het |
| Rsf1 |
CGGC |
CGGCGGCGGGGGC |
7: 97,229,139 (GRCm39) |
|
probably benign |
Het |
| Rtca |
T |
A |
3: 116,293,225 (GRCm39) |
R195S |
probably benign |
Het |
| Scaper |
A |
T |
9: 55,771,835 (GRCm39) |
S360R |
probably benign |
Het |
| Scarb1 |
A |
T |
5: 125,371,194 (GRCm39) |
F293I |
possibly damaging |
Het |
| Snapc1 |
T |
C |
12: 74,017,115 (GRCm39) |
|
probably null |
Het |
| Speer4a3 |
AACT |
A |
5: 26,155,849 (GRCm39) |
|
probably benign |
Het |
| Spta1 |
T |
C |
1: 174,032,925 (GRCm39) |
V994A |
probably damaging |
Het |
| Synpo2 |
T |
C |
3: 122,911,366 (GRCm39) |
E93G |
probably damaging |
Het |
| Ubr4 |
A |
G |
4: 139,191,341 (GRCm39) |
T985A |
unknown |
Het |
| Vmn1r18 |
T |
C |
6: 57,367,463 (GRCm39) |
I30M |
possibly damaging |
Het |
| Vmn2r15 |
A |
G |
5: 109,440,598 (GRCm39) |
V420A |
probably benign |
Het |
| Vmn2r6 |
A |
G |
3: 64,464,081 (GRCm39) |
V251A |
probably benign |
Het |
| Zfyve16 |
A |
T |
13: 92,659,311 (GRCm39) |
I200N |
possibly damaging |
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 |
|
|
IGL03183:Impa1
|
APN |
3 |
10,388,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGACCTGGCTTTATCACTG -3'
(R):5'- CCATGTTAAGAGTCGTTGAATGCTTG -3'
Sequencing Primer
(F):5'- ACTGTAGTGTAGGCTATCCCAC -3'
(R):5'- TCGTTGAATGCTTGAAGTTATTTTG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation