Incidental Mutation 'R5972:Impa1'
ID |
471448 |
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 |
044155-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5972 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
10377016-10396499 bp(-) (GRCm39) |
Type of Mutation |
start codon destroyed |
DNA Base Change (assembly) |
A to G
at 10394064 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 1
(M1T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141345
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065938]
[ENSMUST00000078748]
[ENSMUST00000118410]
[ENSMUST00000128912]
[ENSMUST00000191670]
[ENSMUST00000192603]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000065938
AA Change: M1T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000068174 Gene: ENSMUSG00000027531 AA Change: M1T
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 null
Transcript: ENSMUST00000118410
AA Change: M1T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113860 Gene: ENSMUSG00000027531 AA Change: M1T
Domain | Start | End | E-Value | Type |
Pfam:Inositol_P
|
5 |
271 |
7.7e-79 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000128912
AA Change: M15T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000116088 Gene: ENSMUSG00000027531 AA Change: M15T
Domain | Start | End | E-Value | Type |
Pfam:Inositol_P
|
19 |
90 |
4.4e-16 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000191670
AA Change: M1T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000141345 Gene: ENSMUSG00000027531 AA Change: M1T
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 |
|
Meta Mutation Damage Score |
0.7814 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.9%
|
Validation Efficiency |
100% (51/51) |
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg2 |
T |
A |
6: 58,649,070 (GRCm39) |
M305K |
probably benign |
Het |
Accs |
G |
T |
2: 93,669,572 (GRCm39) |
H283N |
probably damaging |
Het |
Actl6b |
A |
T |
5: 137,564,818 (GRCm39) |
H283L |
possibly damaging |
Het |
Adgra1 |
T |
C |
7: 139,425,583 (GRCm39) |
L32P |
probably damaging |
Het |
Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
Arfgef2 |
T |
C |
2: 166,733,756 (GRCm39) |
I1672T |
probably damaging |
Het |
Bambi |
T |
A |
18: 3,512,354 (GRCm39) |
V246E |
probably damaging |
Het |
BC048679 |
A |
G |
7: 81,145,479 (GRCm39) |
L29P |
probably damaging |
Het |
Bmal2 |
A |
G |
6: 146,711,187 (GRCm39) |
M64V |
probably damaging |
Het |
Camk4 |
T |
C |
18: 33,240,979 (GRCm39) |
L92P |
probably damaging |
Het |
Ddx11 |
C |
A |
17: 66,455,085 (GRCm39) |
Q655K |
probably benign |
Het |
Ddx52 |
A |
G |
11: 83,844,051 (GRCm39) |
|
probably null |
Het |
Entrep3 |
T |
A |
3: 89,093,115 (GRCm39) |
V213D |
probably damaging |
Het |
Eps8l3 |
T |
C |
3: 107,791,763 (GRCm39) |
|
probably null |
Het |
Erap1 |
T |
A |
13: 74,810,423 (GRCm39) |
|
probably null |
Het |
Flg |
T |
A |
3: 93,186,849 (GRCm39) |
N100K |
probably benign |
Het |
Grip2 |
A |
T |
6: 91,784,262 (GRCm39) |
V13E |
probably benign |
Het |
Iars1 |
T |
C |
13: 49,863,108 (GRCm39) |
V520A |
possibly damaging |
Het |
Ip6k3 |
T |
C |
17: 27,368,934 (GRCm39) |
T179A |
possibly damaging |
Het |
Krt87 |
T |
A |
15: 101,385,467 (GRCm39) |
M302L |
probably benign |
Het |
Lrp8 |
T |
C |
4: 107,726,267 (GRCm39) |
Y899H |
probably damaging |
Het |
Lrpprc |
A |
T |
17: 85,020,250 (GRCm39) |
I1145N |
possibly damaging |
Het |
Mapk11 |
A |
T |
15: 89,028,387 (GRCm39) |
D324E |
probably benign |
Het |
Melk |
C |
T |
4: 44,351,007 (GRCm39) |
T516I |
probably benign |
Het |
Mia2 |
C |
T |
12: 59,193,723 (GRCm39) |
H130Y |
probably damaging |
Het |
Mroh5 |
C |
T |
15: 73,662,568 (GRCm39) |
|
probably null |
Het |
Ncam1 |
T |
C |
9: 49,418,829 (GRCm39) |
T824A |
possibly damaging |
Het |
Neurog1 |
T |
C |
13: 56,399,211 (GRCm39) |
S179G |
probably damaging |
Het |
Ntrk2 |
T |
A |
13: 58,985,633 (GRCm39) |
L79Q |
probably damaging |
Het |
Patj |
T |
A |
4: 98,457,290 (GRCm39) |
M46K |
probably damaging |
Het |
Pdcd6ip |
T |
C |
9: 113,491,366 (GRCm39) |
K626E |
probably benign |
Het |
Pdss2 |
T |
A |
10: 43,174,922 (GRCm39) |
Y143N |
probably damaging |
Het |
Pkhd1l1 |
G |
A |
15: 44,408,812 (GRCm39) |
S2433N |
probably damaging |
Het |
Plekha5 |
A |
G |
6: 140,518,639 (GRCm39) |
T309A |
possibly damaging |
Het |
Prdm4 |
C |
T |
10: 85,743,365 (GRCm39) |
V297M |
probably damaging |
Het |
Rab15 |
T |
C |
12: 76,847,377 (GRCm39) |
Y148C |
probably damaging |
Het |
Ryr3 |
A |
T |
2: 112,664,409 (GRCm39) |
N1627K |
probably damaging |
Het |
Scn1a |
G |
T |
2: 66,181,454 (GRCm39) |
A23E |
possibly damaging |
Het |
Smtn |
A |
T |
11: 3,483,486 (GRCm39) |
I30N |
probably damaging |
Het |
Sympk |
A |
G |
7: 18,780,749 (GRCm39) |
K751E |
probably benign |
Het |
Usp24 |
C |
T |
4: 106,225,264 (GRCm39) |
P632L |
probably damaging |
Het |
Vmn2r106 |
A |
G |
17: 20,498,738 (GRCm39) |
I391T |
probably benign |
Het |
Vmn2r54 |
G |
A |
7: 12,349,279 (GRCm39) |
P768S |
probably damaging |
Het |
Vmn2r54 |
C |
T |
7: 12,369,874 (GRCm39) |
C63Y |
probably damaging |
Het |
Zfhx3 |
T |
G |
8: 109,677,483 (GRCm39) |
C2844W |
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 |
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'- AGGAAATCAGCCATTTTCACTG -3'
(R):5'- CACTTGGGAGACAGCTTCATAG -3'
Sequencing Primer
(F):5'- AAATCAGCCATTTTCACTGTATTTAC -3'
(R):5'- TGGGCTATGAGACACTGACTC -3'
|
Posted On |
2017-03-31 |