Incidental Mutation 'R1356:Inpp1'
| ID |
156311 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Inpp1
|
| Ensembl Gene |
ENSMUSG00000026102 |
| Gene Name |
inositol polyphosphate-1-phosphatase |
| Synonyms |
2300002C06Rik |
| MMRRC Submission |
039421-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1356 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
52824586-52856847 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 52836215 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 84
(F84L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027271
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027271]
[ENSMUST00000159725]
[ENSMUST00000162576]
[ENSMUST00000177279]
|
| AlphaFold |
P49442 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027271
AA Change: F84L
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000027271
Gene: ENSMUSG00000026102
AA Change: F84L
| 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
AA Change: F84L
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000124890
Gene: ENSMUSG00000026102
AA Change: F84L
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1INP|A
|
1 |
90 |
8e-43 |
PDB |
|
SCOP:d1inp__
|
1 |
90 |
5e-39 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177279
|
| SMART Domains |
Protein: ENSMUSP00000135225
Gene: ENSMUSG00000026102
| 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 |
|
| Meta Mutation Damage Score |
0.6716 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.7%
|
| Validation Efficiency |
100% (34/34) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
G |
1: 71,342,112 (GRCm39) |
|
probably benign |
Het |
| Adam18 |
A |
G |
8: 25,158,611 (GRCm39) |
|
probably benign |
Het |
| Cd274 |
C |
A |
19: 29,350,970 (GRCm39) |
T22K |
possibly damaging |
Het |
| Cfap45 |
G |
A |
1: 172,355,430 (GRCm39) |
R26Q |
possibly damaging |
Het |
| Dvl3 |
AGCGGCGGCGGCGG |
AGCGGCGGCGG |
16: 20,343,055 (GRCm39) |
|
probably benign |
Het |
| E2f8 |
A |
G |
7: 48,530,018 (GRCm39) |
|
probably benign |
Het |
| Ercc4 |
A |
G |
16: 12,943,146 (GRCm39) |
H255R |
probably damaging |
Het |
| Fam227b |
C |
T |
2: 125,960,928 (GRCm39) |
D234N |
probably damaging |
Het |
| Foxp1 |
A |
T |
6: 98,993,637 (GRCm39) |
|
probably benign |
Het |
| Fsip2 |
T |
A |
2: 82,820,089 (GRCm39) |
V5274D |
probably benign |
Het |
| Gm21718 |
A |
G |
14: 51,554,104 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr85 |
G |
A |
6: 13,836,146 (GRCm39) |
P253S |
probably benign |
Het |
| Grm7 |
A |
T |
6: 111,335,985 (GRCm39) |
I799F |
probably damaging |
Het |
| Kprp |
T |
A |
3: 92,732,909 (GRCm39) |
E47V |
probably damaging |
Het |
| Krt9 |
CTGC |
CTGCNNNNNNNNNNNNNNNNNNNNNTGC |
11: 100,079,640 (GRCm39) |
|
probably benign |
Het |
| Lama3 |
G |
A |
18: 12,633,634 (GRCm39) |
|
probably benign |
Het |
| Lurap1l |
C |
G |
4: 80,829,767 (GRCm39) |
A59G |
probably benign |
Het |
| Macc1 |
A |
T |
12: 119,410,290 (GRCm39) |
T353S |
probably benign |
Het |
| Mctp2 |
A |
G |
7: 71,814,471 (GRCm39) |
|
probably benign |
Het |
| Mdn1 |
T |
C |
4: 32,700,334 (GRCm39) |
|
probably benign |
Het |
| Mpeg1 |
T |
A |
19: 12,438,689 (GRCm39) |
V49D |
probably damaging |
Het |
| Nos2 |
C |
T |
11: 78,843,629 (GRCm39) |
P859S |
probably benign |
Het |
| Or8g18 |
G |
C |
9: 39,149,547 (GRCm39) |
P58A |
probably benign |
Het |
| Parn |
A |
T |
16: 13,468,538 (GRCm39) |
Y214* |
probably null |
Het |
| Pibf1 |
A |
G |
14: 99,374,632 (GRCm39) |
E357G |
possibly damaging |
Het |
| Prex2 |
C |
T |
1: 11,150,316 (GRCm39) |
Q163* |
probably null |
Het |
| Prune2 |
T |
A |
19: 17,189,681 (GRCm39) |
S294T |
probably benign |
Het |
| Slc46a1 |
A |
G |
11: 78,361,550 (GRCm39) |
N399D |
probably benign |
Het |
| Sstr2 |
T |
C |
11: 113,515,720 (GRCm39) |
F213S |
probably damaging |
Het |
| Tnxb |
A |
G |
17: 34,914,446 (GRCm39) |
E1967G |
possibly damaging |
Het |
| Vmn2r59 |
A |
G |
7: 41,661,218 (GRCm39) |
*866Q |
probably null |
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 |
|
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 |
|
R5252:Inpp1
|
UTSW |
1 |
52,833,706 (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'- TGGGGCACCAATGGACACATTAG -3'
(R):5'- CGCTTTCCTGGCAAAGGAGCAG -3'
Sequencing Primer
(F):5'- GGCTAAGTCACACTTACTAAGATGC -3'
(R):5'- GCTGACTTAGTTCCATGTTCAAG -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation