Incidental Mutation 'R5252:Inpp1'
ID |
399072 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Inpp1
|
Ensembl Gene |
ENSMUSG00000026102 |
Gene Name |
inositol polyphosphate-1-phosphatase |
Synonyms |
2300002C06Rik |
MMRRC Submission |
042823-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5252 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
52824586-52856847 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 52833706 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Alanine
at position 130
(D130A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027271
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027271]
[ENSMUST00000159725]
[ENSMUST00000162576]
[ENSMUST00000177279]
|
AlphaFold |
P49442 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027271
AA Change: D130A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000027271 Gene: ENSMUSG00000026102 AA Change: D130A
Domain | Start | End | E-Value | Type |
Pfam:Inositol_P
|
56 |
378 |
5.4e-60 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159607
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159725
|
SMART Domains |
Protein: ENSMUSP00000123977 Gene: ENSMUSG00000026102
Domain | Start | End | E-Value | Type |
PDB:1INP|A
|
1 |
80 |
4e-36 |
PDB |
SCOP:d1inp__
|
1 |
80 |
8e-37 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162351
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162576
|
SMART Domains |
Protein: ENSMUSP00000124890 Gene: ENSMUSG00000026102
Domain | Start | End | E-Value | Type |
PDB:1INP|A
|
1 |
90 |
8e-43 |
PDB |
SCOP:d1inp__
|
1 |
90 |
5e-39 |
SMART |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000177279
AA Change: T110P
|
SMART Domains |
Protein: ENSMUSP00000135225 Gene: ENSMUSG00000026102 AA Change: T110P
Domain | Start | End | E-Value | Type |
PDB:1INP|A
|
1 |
68 |
8e-27 |
PDB |
SCOP:d1inp__
|
1 |
68 |
1e-31 |
SMART |
low complexity region
|
71 |
90 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.7%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the enzyme inositol polyphosphate-1-phosphatase, one of the enzymes involved in phosphatidylinositol signaling pathways. This enzyme removes the phosphate group at position 1 of the inositol ring from the polyphosphates inositol 1,4-bisphosphate and inositol 1,3,4-trisphophosphate. [provided by RefSeq, Jul 2008] PHENOTYPE: Female mice homozygous for a targeted allele exhibit decreased susceptibility to bacterial infection. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alox12b |
G |
T |
11: 69,056,762 (GRCm39) |
R386L |
probably damaging |
Het |
Ano8 |
A |
T |
8: 71,935,261 (GRCm39) |
Y346N |
probably damaging |
Het |
Cabp4 |
T |
C |
19: 4,186,067 (GRCm39) |
|
probably benign |
Het |
Canx |
A |
T |
11: 50,199,621 (GRCm39) |
I148N |
probably damaging |
Het |
Ccdc141 |
A |
G |
2: 76,962,593 (GRCm39) |
V117A |
probably benign |
Het |
Cdk12 |
A |
T |
11: 98,134,335 (GRCm39) |
N1078Y |
unknown |
Het |
Cdk7 |
T |
A |
13: 100,866,968 (GRCm39) |
K42* |
probably null |
Het |
Col6a5 |
T |
C |
9: 105,817,489 (GRCm39) |
D274G |
unknown |
Het |
Cux1 |
T |
C |
5: 136,337,151 (GRCm39) |
E696G |
probably damaging |
Het |
Cxxc1 |
C |
T |
18: 74,353,022 (GRCm39) |
A444V |
probably benign |
Het |
Dll1 |
T |
C |
17: 15,588,951 (GRCm39) |
K575E |
probably damaging |
Het |
Dnah11 |
A |
G |
12: 118,089,676 (GRCm39) |
F1130S |
probably damaging |
Het |
Dnah2 |
A |
G |
11: 69,420,295 (GRCm39) |
F140L |
probably damaging |
Het |
Dysf |
T |
C |
6: 84,163,450 (GRCm39) |
V1625A |
probably damaging |
Het |
Evi5 |
T |
C |
5: 107,943,618 (GRCm39) |
T592A |
probably benign |
Het |
Fas |
T |
C |
19: 34,294,043 (GRCm39) |
S133P |
probably damaging |
Het |
Gpr139 |
A |
G |
7: 118,744,427 (GRCm39) |
S53P |
probably benign |
Het |
H2-Q4 |
T |
C |
17: 35,599,411 (GRCm39) |
F165L |
probably benign |
Het |
Ighv9-2 |
A |
G |
12: 114,072,838 (GRCm39) |
V45A |
probably benign |
Het |
Lin54 |
C |
T |
5: 100,628,063 (GRCm39) |
V47I |
probably benign |
Het |
Nav3 |
TGAAGAAGAAGAAGA |
TGAAGAAGAAGA |
10: 109,550,152 (GRCm39) |
|
probably benign |
Het |
Nexn |
T |
C |
3: 151,943,590 (GRCm39) |
T438A |
probably benign |
Het |
Or4c112 |
A |
T |
2: 88,853,598 (GRCm39) |
F250I |
probably damaging |
Het |
Or8g4 |
T |
G |
9: 39,661,784 (GRCm39) |
I34S |
probably damaging |
Het |
Pilrb1 |
T |
A |
5: 137,853,315 (GRCm39) |
M163L |
probably benign |
Het |
Pkhd1 |
A |
T |
1: 20,420,635 (GRCm39) |
|
probably null |
Het |
Ppard |
G |
A |
17: 28,517,822 (GRCm39) |
V297I |
probably benign |
Het |
Rabgap1 |
T |
C |
2: 37,365,369 (GRCm39) |
V214A |
probably benign |
Het |
Serpinc1 |
T |
C |
1: 160,817,191 (GRCm39) |
F95S |
probably damaging |
Het |
Slc5a8 |
T |
C |
10: 88,742,209 (GRCm39) |
Y302H |
probably damaging |
Het |
Slco4a1 |
G |
A |
2: 180,106,252 (GRCm39) |
A145T |
possibly damaging |
Het |
Spata31g1 |
T |
A |
4: 42,971,706 (GRCm39) |
F346L |
probably benign |
Het |
Sptlc2 |
A |
T |
12: 87,382,829 (GRCm39) |
M425K |
possibly damaging |
Het |
Tent5c |
A |
G |
3: 100,380,024 (GRCm39) |
L244P |
probably damaging |
Het |
Trp53bp1 |
A |
G |
2: 121,074,464 (GRCm39) |
S429P |
probably benign |
Het |
Unc13a |
T |
A |
8: 72,105,208 (GRCm39) |
T723S |
probably damaging |
Het |
Ush2a |
A |
T |
1: 188,553,914 (GRCm39) |
I3468F |
possibly damaging |
Het |
Utp20 |
A |
T |
10: 88,586,532 (GRCm39) |
D2547E |
probably benign |
Het |
Wnk4 |
A |
G |
11: 101,159,574 (GRCm39) |
D593G |
possibly damaging |
Het |
Zfyve26 |
A |
G |
12: 79,315,756 (GRCm39) |
L1240P |
probably damaging |
Het |
|
Other mutations in Inpp1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL03343:Inpp1
|
APN |
1 |
52,838,486 (GRCm39) |
missense |
probably damaging |
1.00 |
R0344:Inpp1
|
UTSW |
1 |
52,838,513 (GRCm39) |
missense |
probably damaging |
1.00 |
R1356:Inpp1
|
UTSW |
1 |
52,836,215 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1465:Inpp1
|
UTSW |
1 |
52,829,253 (GRCm39) |
missense |
probably benign |
|
R1465:Inpp1
|
UTSW |
1 |
52,829,253 (GRCm39) |
missense |
probably benign |
|
R1907:Inpp1
|
UTSW |
1 |
52,828,829 (GRCm39) |
makesense |
probably null |
|
R1954:Inpp1
|
UTSW |
1 |
52,833,788 (GRCm39) |
missense |
probably damaging |
1.00 |
R2033:Inpp1
|
UTSW |
1 |
52,829,332 (GRCm39) |
missense |
possibly damaging |
0.71 |
R2104:Inpp1
|
UTSW |
1 |
52,838,577 (GRCm39) |
missense |
probably damaging |
1.00 |
R2224:Inpp1
|
UTSW |
1 |
52,829,290 (GRCm39) |
missense |
probably benign |
0.07 |
R3508:Inpp1
|
UTSW |
1 |
52,838,550 (GRCm39) |
missense |
probably damaging |
1.00 |
R4682:Inpp1
|
UTSW |
1 |
52,833,760 (GRCm39) |
missense |
probably benign |
0.00 |
R5590:Inpp1
|
UTSW |
1 |
52,833,820 (GRCm39) |
missense |
probably damaging |
0.96 |
R6354:Inpp1
|
UTSW |
1 |
52,836,224 (GRCm39) |
missense |
probably damaging |
1.00 |
R9196:Inpp1
|
UTSW |
1 |
52,833,778 (GRCm39) |
missense |
probably damaging |
1.00 |
R9255:Inpp1
|
UTSW |
1 |
52,829,306 (GRCm39) |
missense |
probably benign |
0.01 |
|
Predicted Primers |
PCR Primer
(F):5'- GAGATCTGGTGTTCTGACAGTC -3'
(R):5'- TGGCACCTAACTGATGAGTTC -3'
Sequencing Primer
(F):5'- GTGTTCTGACAGTCTCTATTTCTTAG -3'
(R):5'- GATGCCGCCTGCTGTTC -3'
|
Posted On |
2016-07-06 |