Incidental Mutation 'IGL02040:Inpp4a'
ID184713
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Inpp4a
Ensembl Gene ENSMUSG00000026113
Gene Nameinositol polyphosphate-4-phosphatase, type I
Synonyms107kDa
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.243) question?
Stock #IGL02040
Quality Score
Status
Chromosome1
Chromosomal Location37299865-37410736 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 37396085 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Leucine at position 179 (R179L)
Ref Sequence ENSEMBL: ENSMUSP00000142118 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027287] [ENSMUST00000058307] [ENSMUST00000114933] [ENSMUST00000132401] [ENSMUST00000132615] [ENSMUST00000136846] [ENSMUST00000137266] [ENSMUST00000140264] [ENSMUST00000168546] [ENSMUST00000193774]
Predicted Effect possibly damaging
Transcript: ENSMUST00000027287
AA Change: R812L

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000027287
Gene: ENSMUSG00000026113
AA Change: R812L

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 possibly damaging
Transcript: ENSMUST00000058307
AA Change: R536L

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000057233
Gene: ENSMUSG00000026113
AA Change: R536L

DomainStartEndE-ValueType
transmembrane domain 651 673 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000114933
AA Change: R547L

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000110583
Gene: ENSMUSG00000026113
AA Change: R547L

DomainStartEndE-ValueType
low complexity region 300 325 N/A INTRINSIC
transmembrane domain 662 684 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000132401
AA Change: R845L

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000123071
Gene: ENSMUSG00000026113
AA Change: R845L

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
AA Change: R811L

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000115249
Gene: ENSMUSG00000026113
AA Change: R811L

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 possibly damaging
Transcript: ENSMUST00000136846
AA Change: R811L

PolyPhen 2 Score 0.748 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000121518
Gene: ENSMUSG00000026113
AA Change: R811L

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
AA Change: R850L

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000121803
Gene: ENSMUSG00000026113
AA Change: R850L

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 possibly damaging
Transcript: ENSMUST00000140264
AA Change: R806L

PolyPhen 2 Score 0.748 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000121107
Gene: ENSMUSG00000026113
AA Change: R806L

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 possibly damaging
Transcript: ENSMUST00000168546
AA Change: R536L

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000130443
Gene: ENSMUSG00000026113
AA Change: R536L

DomainStartEndE-ValueType
transmembrane domain 651 673 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000193774
AA Change: R179L

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000142118
Gene: ENSMUSG00000026113
AA Change: R179L

DomainStartEndE-ValueType
Blast:C2 45 87 7e-13 BLAST
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700109H08Rik T G 5: 3,580,405 F107C probably damaging Het
4930590J08Rik T C 6: 91,918,110 V262A probably benign Het
A830018L16Rik T A 1: 11,933,598 probably benign Het
Adgrb1 T C 15: 74,541,575 V536A possibly damaging Het
Ano6 T G 15: 95,955,944 I667R probably benign Het
Ap3b1 T A 13: 94,408,845 probably null Het
Azin2 G T 4: 128,950,658 L37M possibly damaging Het
Caap1 A G 4: 94,550,430 I174T probably damaging Het
Cacna1h A G 17: 25,397,611 V46A probably benign Het
Chrna6 T C 8: 27,407,261 D196G probably damaging Het
Col19a1 A G 1: 24,312,045 probably null Het
Defb22 G T 2: 152,490,056 T19K possibly damaging Het
Dhx36 T C 3: 62,501,015 D134G probably benign Het
Dync1h1 A G 12: 110,637,124 I2211V probably benign Het
Ecel1 A C 1: 87,154,923 C23G probably benign Het
Elmod2 A G 8: 83,321,497 V112A probably damaging Het
Enpp1 T C 10: 24,655,856 K510E probably damaging Het
Erbb4 A T 1: 68,042,535 S1113R probably damaging Het
Esf1 A T 2: 140,129,261 D653E possibly damaging Het
Exd1 A G 2: 119,540,065 V54A possibly damaging Het
Fam227b A T 2: 126,121,084 probably benign Het
Fnbp1l A G 3: 122,570,953 probably benign Het
Foxf1 A G 8: 121,085,345 N316S probably damaging Het
Gm12794 G A 4: 101,941,134 V101I possibly damaging Het
Gm15448 A G 7: 3,821,517 probably benign Het
Gpaa1 T C 15: 76,334,295 V426A probably benign Het
Gpc2 A G 5: 138,276,582 probably null Het
Hnrnpab A G 11: 51,601,795 probably benign Het
Hsf4 T G 8: 105,275,667 probably benign Het
Jakmip2 T A 18: 43,571,854 M361L probably benign Het
Kif15 A C 9: 123,017,385 Y117S probably damaging Het
Lnpep T C 17: 17,544,905 H761R probably benign Het
Masp2 G T 4: 148,603,813 C180F probably damaging Het
Mical2 A G 7: 112,311,406 E261G probably damaging Het
Mtmr7 T C 8: 40,560,885 I211V probably benign Het
Nsd2 T C 5: 33,867,571 probably benign Het
Olfr1062 A G 2: 86,422,992 I228T probably damaging Het
Olfr1226 A G 2: 89,193,563 I157T probably benign Het
Olfr638 A G 7: 104,003,407 N44S probably damaging Het
Olfr933 T C 9: 38,976,614 probably benign Het
Oxct1 G A 15: 4,026,768 probably benign Het
Plbd2 C T 5: 120,487,442 S430N probably damaging Het
Postn A G 3: 54,362,689 K63R probably benign Het
Proc A T 18: 32,134,860 V75E probably benign Het
Ptprt T C 2: 162,238,072 Y269C probably damaging Het
Rcc2 T C 4: 140,720,591 V476A possibly damaging Het
Recql5 A G 11: 115,932,797 V41A possibly damaging Het
Ros1 T A 10: 52,115,922 I1402F probably damaging Het
Rpgrip1 C T 14: 52,121,019 T194I possibly damaging Het
Scin T C 12: 40,069,453 probably benign Het
Skint4 T C 4: 112,146,482 probably benign Het
Sptan1 T A 2: 30,013,713 S1545T probably benign Het
Tpra1 A T 6: 88,910,182 H168L possibly damaging Het
Trim47 T C 11: 116,107,908 E295G probably damaging Het
Ttc28 T A 5: 110,892,936 C63* probably null Het
Usp45 G A 4: 21,830,433 R696H probably benign Het
Zfyve27 G A 19: 42,179,391 R124Q probably damaging Het
Other mutations in Inpp4a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01348:Inpp4a APN 1 37388905 missense probably damaging 1.00
IGL01821:Inpp4a APN 1 37377717 missense probably damaging 1.00
IGL02015:Inpp4a APN 1 37389712 missense probably damaging 1.00
IGL02036:Inpp4a APN 1 37377569 intron probably benign
IGL02082:Inpp4a APN 1 37366627 intron probably benign
IGL02318:Inpp4a APN 1 37368303 missense probably damaging 1.00
IGL02555:Inpp4a APN 1 37379968 missense possibly damaging 0.70
IGL02622:Inpp4a APN 1 37379034 missense probably benign 0.26
R0265:Inpp4a UTSW 1 37378986 missense probably damaging 1.00
R0388:Inpp4a UTSW 1 37396160 missense probably damaging 0.96
R0543:Inpp4a UTSW 1 37369492 intron probably benign
R1269:Inpp4a UTSW 1 37389742 missense probably benign 0.01
R1719:Inpp4a UTSW 1 37398799 missense probably damaging 1.00
R1799:Inpp4a UTSW 1 37392978 missense possibly damaging 0.56
R2127:Inpp4a UTSW 1 37366919 missense probably benign 0.08
R2143:Inpp4a UTSW 1 37387746 missense probably damaging 1.00
R2174:Inpp4a UTSW 1 37396130 missense probably damaging 1.00
R2258:Inpp4a UTSW 1 37377696 missense probably damaging 1.00
R2327:Inpp4a UTSW 1 37366166 missense probably damaging 0.96
R2437:Inpp4a UTSW 1 37392956 missense probably damaging 1.00
R2897:Inpp4a UTSW 1 37366594 missense probably benign 0.07
R2898:Inpp4a UTSW 1 37366594 missense probably benign 0.07
R4830:Inpp4a UTSW 1 37371780 missense probably damaging 1.00
R4934:Inpp4a UTSW 1 37387841 missense possibly damaging 0.74
R5141:Inpp4a UTSW 1 37380087 missense probably benign 0.17
R5152:Inpp4a UTSW 1 37358535 missense possibly damaging 0.88
R5627:Inpp4a UTSW 1 37367773 missense probably damaging 0.96
R5789:Inpp4a UTSW 1 37372329 missense possibly damaging 0.75
R6004:Inpp4a UTSW 1 37372370 missense probably damaging 0.99
R6107:Inpp4a UTSW 1 37377748 missense probably damaging 0.98
R6180:Inpp4a UTSW 1 37380102 missense probably benign
R6434:Inpp4a UTSW 1 37398838 missense probably damaging 1.00
R6571:Inpp4a UTSW 1 37387758 missense probably damaging 1.00
R6766:Inpp4a UTSW 1 37372341 missense probably damaging 1.00
R6992:Inpp4a UTSW 1 37389691 missense probably damaging 0.98
R7025:Inpp4a UTSW 1 37369423 missense probably benign 0.00
R7126:Inpp4a UTSW 1 37374272 missense probably benign 0.00
R7473:Inpp4a UTSW 1 37369453 missense probably benign 0.37
R7509:Inpp4a UTSW 1 37387830 missense probably damaging 0.99
Posted On2014-05-07