Incidental Mutation 'IGL02082:Inpp4a'
ID |
283409 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Inpp4a
|
Ensembl Gene |
ENSMUSG00000026113 |
Gene Name |
inositol polyphosphate-4-phosphatase, type I |
Synonyms |
107kDa |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.231)
|
Stock # |
IGL02082
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
37338946-37449817 bp(+) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
T to A
at 37405708 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142118
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027287]
[ENSMUST00000058307]
[ENSMUST00000114933]
[ENSMUST00000132401]
[ENSMUST00000132615]
[ENSMUST00000136846]
[ENSMUST00000137266]
[ENSMUST00000140264]
[ENSMUST00000193774]
[ENSMUST00000168546]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027287
|
SMART Domains |
Protein: ENSMUSP00000027287 Gene: ENSMUSG00000026113
Domain | Start | End | E-Value | Type |
Blast:C2
|
49 |
142 |
1e-57 |
BLAST |
SCOP:d1bdya_
|
50 |
168 |
7e-5 |
SMART |
low complexity region
|
565 |
590 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000058307
|
SMART Domains |
Protein: ENSMUSP00000057233 Gene: ENSMUSG00000026113
Domain | Start | End | E-Value | Type |
transmembrane domain
|
651 |
673 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114933
|
SMART Domains |
Protein: ENSMUSP00000110583 Gene: ENSMUSG00000026113
Domain | Start | End | E-Value | Type |
low complexity region
|
300 |
325 |
N/A |
INTRINSIC |
transmembrane domain
|
662 |
684 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000132401
|
SMART Domains |
Protein: ENSMUSP00000123071 Gene: ENSMUSG00000026113
Domain | Start | End | E-Value | Type |
Blast:C2
|
49 |
142 |
1e-57 |
BLAST |
SCOP:d1bdya_
|
50 |
168 |
6e-5 |
SMART |
low complexity region
|
602 |
623 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000132615
|
SMART Domains |
Protein: ENSMUSP00000115249 Gene: ENSMUSG00000026113
Domain | Start | End | E-Value | Type |
Blast:C2
|
49 |
142 |
1e-57 |
BLAST |
SCOP:d1bdya_
|
50 |
168 |
7e-5 |
SMART |
low complexity region
|
565 |
590 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136846
|
SMART Domains |
Protein: ENSMUSP00000121518 Gene: ENSMUSG00000026113
Domain | Start | End | E-Value | Type |
Blast:C2
|
49 |
142 |
9e-58 |
BLAST |
SCOP:d1bdya_
|
50 |
168 |
7e-5 |
SMART |
low complexity region
|
559 |
584 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137266
|
SMART Domains |
Protein: ENSMUSP00000121803 Gene: ENSMUSG00000026113
Domain | Start | End | E-Value | Type |
Blast:C2
|
49 |
142 |
1e-57 |
BLAST |
SCOP:d1bdya_
|
50 |
168 |
6e-5 |
SMART |
low complexity region
|
377 |
391 |
N/A |
INTRINSIC |
low complexity region
|
607 |
628 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000140264
|
SMART Domains |
Protein: ENSMUSP00000121107 Gene: ENSMUSG00000026113
Domain | Start | End | E-Value | Type |
Blast:C2
|
49 |
142 |
7e-58 |
BLAST |
SCOP:d1bdya_
|
50 |
168 |
7e-5 |
SMART |
low complexity region
|
377 |
391 |
N/A |
INTRINSIC |
low complexity region
|
564 |
589 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000193774
|
SMART Domains |
Protein: ENSMUSP00000142118 Gene: ENSMUSG00000026113
Domain | Start | End | E-Value | Type |
Blast:C2
|
45 |
87 |
7e-13 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168546
|
SMART Domains |
Protein: ENSMUSP00000130443 Gene: ENSMUSG00000026113
Domain | Start | End | E-Value | Type |
transmembrane domain
|
651 |
673 |
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.] This gene encodes an Mg++ independent enzyme that hydrolyzes the 4-position phosphate from the inositol ring of phosphatidylinositol 3,4-bisphosphate, inositol 1,3,4-trisphosphate, and inositol 3,4-bisphosphate. Multiple transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Aug 2008] PHENOTYPE: Homozygotes for a spontaneous mutation exhibit small size, ataxia, loss of cerebellar and hippocampal CA1 neurons, and death by 24 days of age from seizures and/or malnutrition. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp9b |
A |
C |
18: 80,935,145 (GRCm39) |
|
probably benign |
Het |
Brinp3 |
T |
C |
1: 146,627,600 (GRCm39) |
C278R |
probably damaging |
Het |
Cfap54 |
T |
C |
10: 92,917,320 (GRCm39) |
S47G |
unknown |
Het |
Clec16a |
T |
C |
16: 10,432,432 (GRCm39) |
L484P |
probably damaging |
Het |
Cnksr1 |
C |
A |
4: 133,963,363 (GRCm39) |
G71C |
probably damaging |
Het |
Dnah12 |
A |
T |
14: 26,428,317 (GRCm39) |
N246I |
possibly damaging |
Het |
Fbh1 |
T |
C |
2: 11,768,938 (GRCm39) |
D285G |
probably benign |
Het |
Focad |
C |
T |
4: 88,148,815 (GRCm39) |
Q511* |
probably null |
Het |
Gpr63 |
A |
G |
4: 25,008,564 (GRCm39) |
|
probably benign |
Het |
Iah1 |
C |
A |
12: 21,367,405 (GRCm39) |
S37* |
probably null |
Het |
Mcm2 |
A |
T |
6: 88,865,218 (GRCm39) |
Y486* |
probably null |
Het |
Mtmr10 |
A |
G |
7: 63,983,238 (GRCm39) |
|
probably benign |
Het |
Nbea |
A |
G |
3: 55,875,588 (GRCm39) |
L1694S |
possibly damaging |
Het |
Pafah1b1 |
A |
G |
11: 74,590,159 (GRCm39) |
S4P |
probably benign |
Het |
Rnase10 |
A |
T |
14: 51,246,856 (GRCm39) |
E41V |
probably damaging |
Het |
Slc17a6 |
G |
T |
7: 51,318,777 (GRCm39) |
R473L |
probably benign |
Het |
Spata31g1 |
A |
G |
4: 42,970,198 (GRCm39) |
T2A |
probably benign |
Het |
Tbc1d9b |
A |
G |
11: 50,054,709 (GRCm39) |
D951G |
probably benign |
Het |
Tk1 |
C |
A |
11: 117,716,553 (GRCm39) |
|
probably null |
Het |
Trim46 |
C |
A |
3: 89,146,307 (GRCm39) |
A395S |
probably benign |
Het |
Vmn1r113 |
C |
T |
7: 20,521,672 (GRCm39) |
H155Y |
probably benign |
Het |
Vmn1r222 |
A |
G |
13: 23,416,499 (GRCm39) |
M238T |
probably damaging |
Het |
Vmn2r72 |
A |
T |
7: 85,387,374 (GRCm39) |
V730E |
probably benign |
Het |
|
Other mutations in Inpp4a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01348:Inpp4a
|
APN |
1 |
37,427,986 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01821:Inpp4a
|
APN |
1 |
37,416,798 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02015:Inpp4a
|
APN |
1 |
37,428,793 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02036:Inpp4a
|
APN |
1 |
37,416,650 (GRCm39) |
intron |
probably benign |
|
IGL02040:Inpp4a
|
APN |
1 |
37,435,166 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02318:Inpp4a
|
APN |
1 |
37,407,384 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02555:Inpp4a
|
APN |
1 |
37,419,049 (GRCm39) |
missense |
possibly damaging |
0.70 |
IGL02622:Inpp4a
|
APN |
1 |
37,418,115 (GRCm39) |
missense |
probably benign |
0.26 |
stultified
|
UTSW |
1 |
37,426,911 (GRCm39) |
missense |
probably damaging |
0.99 |
R0265:Inpp4a
|
UTSW |
1 |
37,418,067 (GRCm39) |
missense |
probably damaging |
1.00 |
R0388:Inpp4a
|
UTSW |
1 |
37,435,241 (GRCm39) |
missense |
probably damaging |
0.96 |
R0543:Inpp4a
|
UTSW |
1 |
37,408,573 (GRCm39) |
intron |
probably benign |
|
R1269:Inpp4a
|
UTSW |
1 |
37,428,823 (GRCm39) |
missense |
probably benign |
0.01 |
R1719:Inpp4a
|
UTSW |
1 |
37,437,880 (GRCm39) |
missense |
probably damaging |
1.00 |
R1799:Inpp4a
|
UTSW |
1 |
37,432,059 (GRCm39) |
missense |
possibly damaging |
0.56 |
R2127:Inpp4a
|
UTSW |
1 |
37,406,000 (GRCm39) |
missense |
probably benign |
0.08 |
R2143:Inpp4a
|
UTSW |
1 |
37,426,827 (GRCm39) |
missense |
probably damaging |
1.00 |
R2174:Inpp4a
|
UTSW |
1 |
37,435,211 (GRCm39) |
missense |
probably damaging |
1.00 |
R2258:Inpp4a
|
UTSW |
1 |
37,416,777 (GRCm39) |
missense |
probably damaging |
1.00 |
R2327:Inpp4a
|
UTSW |
1 |
37,405,247 (GRCm39) |
missense |
probably damaging |
0.96 |
R2437:Inpp4a
|
UTSW |
1 |
37,432,037 (GRCm39) |
missense |
probably damaging |
1.00 |
R2897:Inpp4a
|
UTSW |
1 |
37,405,675 (GRCm39) |
missense |
probably benign |
0.07 |
R2898:Inpp4a
|
UTSW |
1 |
37,405,675 (GRCm39) |
missense |
probably benign |
0.07 |
R4830:Inpp4a
|
UTSW |
1 |
37,410,861 (GRCm39) |
missense |
probably damaging |
1.00 |
R4934:Inpp4a
|
UTSW |
1 |
37,426,922 (GRCm39) |
missense |
possibly damaging |
0.74 |
R5141:Inpp4a
|
UTSW |
1 |
37,419,168 (GRCm39) |
missense |
probably benign |
0.17 |
R5152:Inpp4a
|
UTSW |
1 |
37,397,616 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5627:Inpp4a
|
UTSW |
1 |
37,406,854 (GRCm39) |
missense |
probably damaging |
0.96 |
R5789:Inpp4a
|
UTSW |
1 |
37,411,410 (GRCm39) |
missense |
possibly damaging |
0.75 |
R6004:Inpp4a
|
UTSW |
1 |
37,411,451 (GRCm39) |
missense |
probably damaging |
0.99 |
R6107:Inpp4a
|
UTSW |
1 |
37,416,829 (GRCm39) |
missense |
probably damaging |
0.98 |
R6180:Inpp4a
|
UTSW |
1 |
37,419,183 (GRCm39) |
missense |
probably benign |
|
R6434:Inpp4a
|
UTSW |
1 |
37,437,919 (GRCm39) |
missense |
probably damaging |
1.00 |
R6571:Inpp4a
|
UTSW |
1 |
37,426,839 (GRCm39) |
missense |
probably damaging |
1.00 |
R6766:Inpp4a
|
UTSW |
1 |
37,411,422 (GRCm39) |
missense |
probably damaging |
1.00 |
R6992:Inpp4a
|
UTSW |
1 |
37,428,772 (GRCm39) |
missense |
probably damaging |
0.98 |
R7025:Inpp4a
|
UTSW |
1 |
37,408,504 (GRCm39) |
missense |
probably benign |
0.00 |
R7126:Inpp4a
|
UTSW |
1 |
37,413,353 (GRCm39) |
missense |
probably benign |
0.00 |
R7473:Inpp4a
|
UTSW |
1 |
37,408,534 (GRCm39) |
missense |
probably benign |
0.37 |
R7509:Inpp4a
|
UTSW |
1 |
37,426,911 (GRCm39) |
missense |
probably damaging |
0.99 |
R7654:Inpp4a
|
UTSW |
1 |
37,413,179 (GRCm39) |
splice site |
probably null |
|
R7920:Inpp4a
|
UTSW |
1 |
37,406,886 (GRCm39) |
missense |
probably benign |
0.08 |
R8273:Inpp4a
|
UTSW |
1 |
37,407,520 (GRCm39) |
intron |
probably benign |
|
R8739:Inpp4a
|
UTSW |
1 |
37,422,207 (GRCm39) |
intron |
probably benign |
|
R9158:Inpp4a
|
UTSW |
1 |
37,442,552 (GRCm39) |
missense |
possibly damaging |
0.76 |
R9281:Inpp4a
|
UTSW |
1 |
37,410,850 (GRCm39) |
missense |
probably damaging |
1.00 |
R9678:Inpp4a
|
UTSW |
1 |
37,405,952 (GRCm39) |
missense |
probably damaging |
0.97 |
RF006:Inpp4a
|
UTSW |
1 |
37,427,908 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
Posted On |
2015-04-16 |