Incidental Mutation 'R1645:Impa1'
| ID |
173794 |
| 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 |
039681-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1645 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
10377016-10396499 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 10393501 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 48
(M48K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116088
(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: M34K
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000068174
Gene: ENSMUSG00000027531
AA Change: M34K
| 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: M34K
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000113860
Gene: ENSMUSG00000027531
AA Change: M34K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Inositol_P
|
5 |
271 |
7.7e-79 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000128912
AA Change: M48K
PolyPhen 2
Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000116088
Gene: ENSMUSG00000027531
AA Change: M48K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Inositol_P
|
19 |
90 |
4.4e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191670
AA Change: M34K
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000141345
Gene: ENSMUSG00000027531
AA Change: M34K
| 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: 99.0%
- 3x: 98.1%
- 10x: 95.3%
- 20x: 89.2%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
A |
G |
3: 121,948,926 (GRCm39) |
M1732V |
probably benign |
Het |
| Acvr1 |
A |
T |
2: 58,352,911 (GRCm39) |
C350S |
probably damaging |
Het |
| Adgrl2 |
A |
T |
3: 148,571,244 (GRCm39) |
V130D |
probably damaging |
Het |
| Anapc1 |
A |
G |
2: 128,500,166 (GRCm39) |
|
probably null |
Het |
| Asap1 |
A |
T |
15: 63,961,324 (GRCm39) |
V1116E |
probably damaging |
Het |
| Bcas1 |
T |
A |
2: 170,229,087 (GRCm39) |
D308V |
probably damaging |
Het |
| Brca1 |
G |
A |
11: 101,400,879 (GRCm39) |
H1468Y |
probably benign |
Het |
| C2cd5 |
A |
G |
6: 142,995,852 (GRCm39) |
C421R |
probably damaging |
Het |
| C4b |
A |
G |
17: 34,959,571 (GRCm39) |
S363P |
probably damaging |
Het |
| Camk2b |
A |
T |
11: 5,922,719 (GRCm39) |
C484S |
probably damaging |
Het |
| Cby2 |
C |
A |
14: 75,821,089 (GRCm39) |
R212L |
probably benign |
Het |
| Ccny |
T |
C |
18: 9,345,199 (GRCm39) |
T192A |
probably damaging |
Het |
| Chl1 |
G |
T |
6: 103,660,141 (GRCm39) |
A356S |
probably benign |
Het |
| Dst |
T |
A |
1: 34,264,803 (GRCm39) |
Y4850N |
probably damaging |
Het |
| Dyrk4 |
C |
A |
6: 126,871,756 (GRCm39) |
E171* |
probably null |
Het |
| Entrep3 |
C |
A |
3: 89,094,154 (GRCm39) |
D322E |
possibly damaging |
Het |
| Ephb1 |
A |
G |
9: 101,804,758 (GRCm39) |
Y928H |
probably damaging |
Het |
| Fam114a2 |
A |
T |
11: 57,390,621 (GRCm39) |
N304K |
probably benign |
Het |
| Fras1 |
A |
T |
5: 96,848,445 (GRCm39) |
D1820V |
possibly damaging |
Het |
| Gabbr2 |
A |
T |
4: 46,664,963 (GRCm39) |
|
probably null |
Het |
| Gm6358 |
T |
C |
16: 88,937,967 (GRCm39) |
W69R |
unknown |
Het |
| Ikbkb |
C |
A |
8: 23,181,082 (GRCm39) |
S127I |
probably damaging |
Het |
| Klra2 |
A |
T |
6: 131,220,857 (GRCm39) |
|
probably null |
Het |
| Lama1 |
A |
T |
17: 68,044,677 (GRCm39) |
Y192F |
probably benign |
Het |
| Lama2 |
T |
A |
10: 27,244,981 (GRCm39) |
T267S |
probably damaging |
Het |
| Mroh7 |
G |
A |
4: 106,577,865 (GRCm39) |
T271I |
probably benign |
Het |
| Myo9b |
A |
G |
8: 71,775,622 (GRCm39) |
E348G |
probably damaging |
Het |
| Nrp2 |
C |
T |
1: 62,824,283 (GRCm39) |
P796L |
probably damaging |
Het |
| Ntn4 |
C |
T |
10: 93,543,215 (GRCm39) |
R314W |
probably damaging |
Het |
| Or10al4 |
A |
T |
17: 38,037,229 (GRCm39) |
T114S |
probably benign |
Het |
| Or51i1 |
A |
G |
7: 103,671,210 (GRCm39) |
F105S |
probably damaging |
Het |
| Or9k7 |
T |
A |
10: 130,046,081 (GRCm39) |
D306V |
probably damaging |
Het |
| P3h2 |
T |
A |
16: 25,815,982 (GRCm39) |
H177L |
probably damaging |
Het |
| Pcdhb16 |
T |
C |
18: 37,612,423 (GRCm39) |
I461T |
probably benign |
Het |
| Pdlim3 |
A |
G |
8: 46,349,785 (GRCm39) |
I32V |
probably benign |
Het |
| Pigu |
A |
C |
2: 155,170,598 (GRCm39) |
Y143* |
probably null |
Het |
| Prkd3 |
A |
C |
17: 79,263,949 (GRCm39) |
|
probably null |
Het |
| Psrc1 |
C |
T |
3: 108,292,554 (GRCm39) |
R116W |
probably damaging |
Het |
| Rab5b |
A |
G |
10: 128,522,695 (GRCm39) |
S29P |
possibly damaging |
Het |
| Rbm26 |
A |
G |
14: 105,388,253 (GRCm39) |
V403A |
probably damaging |
Het |
| Rbm47 |
G |
T |
5: 66,184,481 (GRCm39) |
R41S |
probably benign |
Het |
| Rngtt |
A |
G |
4: 33,362,939 (GRCm39) |
I364M |
probably damaging |
Het |
| Ryr2 |
A |
T |
13: 11,733,368 (GRCm39) |
C2271* |
probably null |
Het |
| Shcbp1 |
T |
A |
8: 4,799,645 (GRCm39) |
Q277L |
probably benign |
Het |
| Sntg1 |
T |
C |
1: 8,874,155 (GRCm39) |
T5A |
probably benign |
Het |
| Snx24 |
T |
C |
18: 53,522,634 (GRCm39) |
F163S |
probably benign |
Het |
| Srp72 |
T |
C |
5: 77,146,125 (GRCm39) |
V581A |
probably benign |
Het |
| Srrt |
T |
A |
5: 137,300,401 (GRCm39) |
K59* |
probably null |
Het |
| Tnrc6b |
A |
G |
15: 80,767,159 (GRCm39) |
T975A |
probably damaging |
Het |
| Vmn1r174 |
G |
A |
7: 23,453,777 (GRCm39) |
V148I |
possibly damaging |
Het |
| Vmn2r115 |
T |
A |
17: 23,565,192 (GRCm39) |
C360S |
possibly damaging |
Het |
| Vwa8 |
A |
T |
14: 79,420,427 (GRCm39) |
Q1709H |
probably damaging |
Het |
| Wdr11 |
A |
G |
7: 129,215,613 (GRCm39) |
T526A |
probably benign |
Het |
| Zfp532 |
C |
A |
18: 65,820,335 (GRCm39) |
N973K |
probably benign |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCACTGTAGCGTAGGCTATCCCAC -3'
(R):5'- TGTAATGTTAACCTGACCACGGCG -3'
Sequencing Primer
(F):5'- TAGGCTATCCCACCCTGGAC -3'
(R):5'- ACCACGGCGGTCATGAATC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation