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) question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
transmembrane domain 651 673 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114933
SMART Domains Protein: ENSMUSP00000110583
Gene: ENSMUSG00000026113

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Blast:C2 45 87 7e-13 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000168546
SMART Domains Protein: ENSMUSP00000130443
Gene: ENSMUSG00000026113

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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