Incidental Mutation 'IGL00236:Inpp5e'
| ID |
2508 |
| 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 # |
IGL00236
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
26286261-26299215 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 26298533 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 23
(Q23K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119485
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091252]
[ENSMUST00000114082]
[ENSMUST00000114090]
[ENSMUST00000145701]
|
| AlphaFold |
Q9JII1 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000028291
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091252
|
| SMART Domains |
Protein: ENSMUSP00000088796
Gene: ENSMUSG00000026924
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
204 |
221 |
N/A |
INTRINSIC |
|
low complexity region
|
243 |
254 |
N/A |
INTRINSIC |
|
low complexity region
|
371 |
382 |
N/A |
INTRINSIC |
|
low complexity region
|
537 |
561 |
N/A |
INTRINSIC |
|
low complexity region
|
608 |
621 |
N/A |
INTRINSIC |
|
low complexity region
|
760 |
777 |
N/A |
INTRINSIC |
|
low complexity region
|
1096 |
1105 |
N/A |
INTRINSIC |
|
low complexity region
|
1134 |
1150 |
N/A |
INTRINSIC |
|
low complexity region
|
1185 |
1195 |
N/A |
INTRINSIC |
|
low complexity region
|
1370 |
1392 |
N/A |
INTRINSIC |
|
Pfam:Sec16
|
1463 |
1565 |
3.1e-24 |
PFAM |
|
low complexity region
|
1600 |
1614 |
N/A |
INTRINSIC |
|
Pfam:Sec16_C
|
1635 |
1898 |
2.3e-39 |
PFAM |
|
low complexity region
|
2109 |
2124 |
N/A |
INTRINSIC |
|
low complexity region
|
2165 |
2177 |
N/A |
INTRINSIC |
|
low complexity region
|
2187 |
2197 |
N/A |
INTRINSIC |
|
low complexity region
|
2227 |
2242 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114082
|
| SMART Domains |
Protein: ENSMUSP00000109716
Gene: ENSMUSG00000026924
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
204 |
221 |
N/A |
INTRINSIC |
|
low complexity region
|
243 |
254 |
N/A |
INTRINSIC |
|
low complexity region
|
371 |
382 |
N/A |
INTRINSIC |
|
low complexity region
|
537 |
561 |
N/A |
INTRINSIC |
|
low complexity region
|
608 |
621 |
N/A |
INTRINSIC |
|
low complexity region
|
760 |
777 |
N/A |
INTRINSIC |
|
low complexity region
|
1096 |
1105 |
N/A |
INTRINSIC |
|
low complexity region
|
1134 |
1150 |
N/A |
INTRINSIC |
|
low complexity region
|
1185 |
1195 |
N/A |
INTRINSIC |
|
low complexity region
|
1370 |
1392 |
N/A |
INTRINSIC |
|
Pfam:Sec16
|
1464 |
1564 |
2.6e-10 |
PFAM |
|
low complexity region
|
1600 |
1614 |
N/A |
INTRINSIC |
|
Pfam:Sec16_C
|
1636 |
1887 |
6.8e-45 |
PFAM |
|
low complexity region
|
2109 |
2124 |
N/A |
INTRINSIC |
|
low complexity region
|
2165 |
2177 |
N/A |
INTRINSIC |
|
low complexity region
|
2187 |
2197 |
N/A |
INTRINSIC |
|
low complexity region
|
2227 |
2242 |
N/A |
INTRINSIC |
|
low complexity region
|
2310 |
2320 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114090
AA Change: Q23K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000109724
Gene: ENSMUSG00000026925
AA Change: Q23K
| 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: ENSMUST00000145701
AA Change: Q23K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000119485
Gene: ENSMUSG00000026925
AA Change: Q23K
| 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: ENSMUST00000149010
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154486
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156442
|
| SMART Domains |
Protein: ENSMUSP00000122255
Gene: ENSMUSG00000026924
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sec16
|
14 |
114 |
7.7e-11 |
PFAM |
|
low complexity region
|
150 |
164 |
N/A |
INTRINSIC |
|
Pfam:Sec16_C
|
186 |
438 |
1.6e-45 |
PFAM |
|
low complexity region
|
659 |
674 |
N/A |
INTRINSIC |
|
low complexity region
|
715 |
727 |
N/A |
INTRINSIC |
|
low complexity region
|
737 |
747 |
N/A |
INTRINSIC |
|
low complexity region
|
777 |
792 |
N/A |
INTRINSIC |
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alkbh1 |
A |
G |
12: 87,490,467 (GRCm39) |
V43A |
probably damaging |
Het |
| Ankrd17 |
A |
T |
5: 90,381,787 (GRCm39) |
S2460T |
probably damaging |
Het |
| Ap4e1 |
T |
C |
2: 126,870,201 (GRCm39) |
L176P |
probably damaging |
Het |
| Caprin2 |
A |
G |
6: 148,744,569 (GRCm39) |
I952T |
probably damaging |
Het |
| Cdkl4 |
A |
T |
17: 80,832,705 (GRCm39) |
|
probably benign |
Het |
| Cfap44 |
T |
C |
16: 44,227,767 (GRCm39) |
L156P |
probably damaging |
Het |
| Dock9 |
A |
G |
14: 121,905,880 (GRCm39) |
L90S |
probably benign |
Het |
| Efhb |
T |
C |
17: 53,769,481 (GRCm39) |
D276G |
probably damaging |
Het |
| Ep300 |
A |
G |
15: 81,525,619 (GRCm39) |
D1481G |
unknown |
Het |
| Fam83b |
T |
C |
9: 76,398,260 (GRCm39) |
I948V |
probably benign |
Het |
| Fbxl5 |
G |
T |
5: 43,922,678 (GRCm39) |
H247N |
probably damaging |
Het |
| Fn1 |
A |
G |
1: 71,692,032 (GRCm39) |
I37T |
probably benign |
Het |
| Hfe |
C |
T |
13: 23,889,835 (GRCm39) |
|
probably benign |
Het |
| Ighv1-36 |
A |
T |
12: 114,843,770 (GRCm39) |
L29Q |
possibly damaging |
Het |
| L3mbtl1 |
T |
C |
2: 162,808,983 (GRCm39) |
S619P |
probably damaging |
Het |
| Myh8 |
T |
C |
11: 67,174,644 (GRCm39) |
I253T |
probably damaging |
Het |
| Ntrk1 |
C |
T |
3: 87,698,745 (GRCm39) |
V99M |
possibly damaging |
Het |
| Or51s1 |
T |
C |
7: 102,558,479 (GRCm39) |
H189R |
probably damaging |
Het |
| Or5b124 |
A |
T |
19: 13,610,903 (GRCm39) |
I143F |
probably benign |
Het |
| Pard6a |
T |
C |
8: 106,429,446 (GRCm39) |
S135P |
probably damaging |
Het |
| Prss43 |
G |
T |
9: 110,658,538 (GRCm39) |
Q279H |
probably benign |
Het |
| Ptcd2 |
T |
C |
13: 99,466,573 (GRCm39) |
N207D |
probably benign |
Het |
| Ros1 |
T |
C |
10: 52,070,986 (GRCm39) |
I23V |
probably benign |
Het |
| Scg5 |
A |
G |
2: 113,657,915 (GRCm39) |
|
probably benign |
Het |
| Sh3bp5 |
T |
A |
14: 31,101,347 (GRCm39) |
K212* |
probably null |
Het |
| Slc25a30 |
C |
T |
14: 76,004,365 (GRCm39) |
G244D |
possibly damaging |
Het |
| Slc38a10 |
T |
C |
11: 119,997,428 (GRCm39) |
R689G |
probably damaging |
Het |
| Spatc1 |
A |
G |
15: 76,168,994 (GRCm39) |
D321G |
probably damaging |
Het |
| Stat4 |
A |
T |
1: 52,142,037 (GRCm39) |
Y628F |
probably damaging |
Het |
| Wdr35 |
G |
A |
12: 9,069,900 (GRCm39) |
V813I |
probably benign |
Het |
|
| Other mutations in Inpp5e |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00943:Inpp5e
|
APN |
2 |
26,290,163 (GRCm39) |
splice site |
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 |
2011-12-09 |
Incidental Mutation