Incidental Mutation 'IGL00943:Inpp5e'
| ID |
26931 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Inpp5e
|
| Ensembl Gene |
ENSMUSG00000026925 |
| Gene Name |
inositol polyphosphate-5-phosphatase E |
| Synonyms |
1200002L24Rik, 72kDa |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00943
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
26286261-26299215 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 26290163 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119485
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076431]
[ENSMUST00000114090]
[ENSMUST00000145701]
|
| AlphaFold |
Q9JII1 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000028291
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076431
|
| SMART Domains |
Protein: ENSMUSP00000075762
Gene: ENSMUSG00000026926
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_M16
|
76 |
226 |
4.5e-47 |
PFAM |
|
Pfam:Peptidase_M16_C
|
231 |
430 |
4.1e-43 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114090
|
| SMART Domains |
Protein: ENSMUSP00000109724
Gene: ENSMUSG00000026925
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
277 |
294 |
N/A |
INTRINSIC |
|
IPPc
|
300 |
602 |
1.27e-62 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131109
|
| SMART Domains |
Protein: ENSMUSP00000118739
Gene: ENSMUSG00000026925
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Exo_endo_phos
|
4 |
88 |
6.4e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144011
|
| SMART Domains |
Protein: ENSMUSP00000123272
Gene: ENSMUSG00000026925
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
15 |
N/A |
INTRINSIC |
|
IPPc
|
21 |
206 |
1.76e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145701
|
| SMART Domains |
Protein: ENSMUSP00000119485
Gene: ENSMUSG00000026925
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
277 |
294 |
N/A |
INTRINSIC |
|
IPPc
|
300 |
602 |
1.27e-62 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146061
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150907
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase. InsP3 5-phosphatases hydrolyze Ins(1,4,5)P3, which mobilizes intracellular calcium and acts as a second messenger mediating cell responses to various stimulation. Studies of the mouse counterpart suggest that this protein may hydrolyze phosphatidylinositol 3,4,5-trisphosphate and phosphatidylinositol 3,5-bisphosphate on the cytoplasmic Golgi membrane and thereby regulate Golgi-vesicular trafficking. Mutations in this gene cause Joubert syndrome; a clinically and genetically heterogenous group of disorders characterized by midbrain-hindbrain malformation and various associated ciliopathies that include retinal dystrophy, nephronophthisis, liver fibrosis and polydactyly. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a null mutation display signs of ciliopathies including prenatal and perinatal lethality, polycystic kidneys, arrest of eye development, abnormalities in primary cilia, cerebral developmental defects, and skeletal defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abl1 |
A |
G |
2: 31,680,824 (GRCm39) |
Y372C |
probably damaging |
Het |
| Carmil1 |
C |
T |
13: 24,295,869 (GRCm39) |
V382M |
possibly damaging |
Het |
| Chkb |
A |
T |
15: 89,312,951 (GRCm39) |
V138E |
probably damaging |
Het |
| Col7a1 |
G |
T |
9: 108,806,765 (GRCm39) |
G2434* |
probably null |
Het |
| Cpa3 |
A |
G |
3: 20,282,979 (GRCm39) |
V156A |
possibly damaging |
Het |
| Dicer1 |
A |
C |
12: 104,663,031 (GRCm39) |
S1517A |
possibly damaging |
Het |
| Dnajc14 |
T |
G |
10: 128,652,675 (GRCm39) |
S578A |
possibly damaging |
Het |
| Dse |
A |
G |
10: 34,038,801 (GRCm39) |
Y201H |
probably damaging |
Het |
| Fam114a2 |
A |
T |
11: 57,405,099 (GRCm39) |
M1K |
probably null |
Het |
| Gm4847 |
A |
T |
1: 166,469,922 (GRCm39) |
S50R |
probably benign |
Het |
| Gpr156 |
A |
G |
16: 37,808,938 (GRCm39) |
Y220C |
probably damaging |
Het |
| Grxcr1 |
T |
C |
5: 68,189,638 (GRCm39) |
|
probably benign |
Het |
| Hspg2 |
T |
C |
4: 137,289,512 (GRCm39) |
V3824A |
probably benign |
Het |
| Ino80b |
A |
T |
6: 83,101,129 (GRCm39) |
L116Q |
probably damaging |
Het |
| Lrrc8e |
T |
C |
8: 4,285,658 (GRCm39) |
C628R |
probably damaging |
Het |
| Maml1 |
A |
G |
11: 50,149,541 (GRCm39) |
V733A |
probably damaging |
Het |
| Mcm9 |
A |
G |
10: 53,424,685 (GRCm39) |
L635P |
probably damaging |
Het |
| Myh15 |
A |
T |
16: 48,986,176 (GRCm39) |
I1549F |
probably damaging |
Het |
| Myo1b |
T |
A |
1: 51,823,646 (GRCm39) |
I414F |
probably damaging |
Het |
| Nlrc3 |
T |
A |
16: 3,782,981 (GRCm39) |
I159F |
possibly damaging |
Het |
| Nvl |
A |
T |
1: 180,929,199 (GRCm39) |
D727E |
possibly damaging |
Het |
| Or1l4 |
T |
C |
2: 37,092,183 (GRCm39) |
V310A |
probably benign |
Het |
| Pgs1 |
A |
G |
11: 117,896,366 (GRCm39) |
I348V |
probably benign |
Het |
| Pkp1 |
A |
T |
1: 135,805,922 (GRCm39) |
V592E |
probably damaging |
Het |
| Setd7 |
T |
A |
3: 51,440,459 (GRCm39) |
D194V |
probably damaging |
Het |
| Slc26a7 |
T |
C |
4: 14,506,477 (GRCm39) |
D624G |
probably benign |
Het |
| Slc39a6 |
A |
G |
18: 24,722,802 (GRCm39) |
|
probably null |
Het |
| Sorbs1 |
T |
C |
19: 40,283,484 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf19 |
A |
T |
14: 61,261,631 (GRCm39) |
M56K |
possibly damaging |
Het |
| Togaram2 |
C |
T |
17: 72,031,999 (GRCm39) |
R873C |
probably damaging |
Het |
| Tubgcp6 |
G |
A |
15: 89,006,600 (GRCm39) |
R141* |
probably null |
Het |
| Vill |
A |
G |
9: 118,892,380 (GRCm39) |
E337G |
probably damaging |
Het |
| Vmn1r17 |
A |
G |
6: 57,338,185 (GRCm39) |
L11S |
possibly damaging |
Het |
|
| Other mutations in Inpp5e |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00236:Inpp5e
|
APN |
2 |
26,298,533 (GRCm39) |
missense |
probably benign |
|
|
IGL01518:Inpp5e
|
APN |
2 |
26,287,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0212:Inpp5e
|
UTSW |
2 |
26,298,352 (GRCm39) |
splice site |
probably null |
|
|
R1818:Inpp5e
|
UTSW |
2 |
26,287,886 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1876:Inpp5e
|
UTSW |
2 |
26,298,169 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2508:Inpp5e
|
UTSW |
2 |
26,289,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4175:Inpp5e
|
UTSW |
2 |
26,290,937 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4647:Inpp5e
|
UTSW |
2 |
26,297,926 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4668:Inpp5e
|
UTSW |
2 |
26,291,006 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4895:Inpp5e
|
UTSW |
2 |
26,287,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4908:Inpp5e
|
UTSW |
2 |
26,290,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5090:Inpp5e
|
UTSW |
2 |
26,289,383 (GRCm39) |
splice site |
probably null |
|
|
R5096:Inpp5e
|
UTSW |
2 |
26,289,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5830:Inpp5e
|
UTSW |
2 |
26,290,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6056:Inpp5e
|
UTSW |
2 |
26,297,860 (GRCm39) |
nonsense |
probably null |
|
|
R6899:Inpp5e
|
UTSW |
2 |
26,290,060 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6939:Inpp5e
|
UTSW |
2 |
26,297,774 (GRCm39) |
splice site |
probably null |
|
|
R7003:Inpp5e
|
UTSW |
2 |
26,287,877 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7164:Inpp5e
|
UTSW |
2 |
26,297,995 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7275:Inpp5e
|
UTSW |
2 |
26,298,104 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7285:Inpp5e
|
UTSW |
2 |
26,287,870 (GRCm39) |
missense |
probably benign |
0.36 |
|
R7468:Inpp5e
|
UTSW |
2 |
26,298,161 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7873:Inpp5e
|
UTSW |
2 |
26,297,957 (GRCm39) |
nonsense |
probably null |
|
|
R8032:Inpp5e
|
UTSW |
2 |
26,286,865 (GRCm39) |
missense |
|
|
|
R8146:Inpp5e
|
UTSW |
2 |
26,289,274 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9227:Inpp5e
|
UTSW |
2 |
26,288,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9310:Inpp5e
|
UTSW |
2 |
26,287,940 (GRCm39) |
missense |
probably benign |
|
|
R9706:Inpp5e
|
UTSW |
2 |
26,292,126 (GRCm39) |
missense |
probably benign |
0.21 |
|
RF002:Inpp5e
|
UTSW |
2 |
26,298,389 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
X0061:Inpp5e
|
UTSW |
2 |
26,292,159 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2013-04-17 |
Incidental Mutation