Incidental Mutation 'IGL02649:Isyna1'
ID302063
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Isyna1
Ensembl Gene ENSMUSG00000019139
Gene Namemyo-inositol 1-phosphate synthase A1
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.362) question?
Stock #IGL02649
Quality Score
Status
Chromosome8
Chromosomal Location70594373-70597290 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 70596254 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 328 (S328P)
Ref Sequence ENSEMBL: ENSMUSP00000148077 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019283] [ENSMUST00000049908] [ENSMUST00000093454] [ENSMUST00000209285] [ENSMUST00000210005] [ENSMUST00000210369] [ENSMUST00000210580] [ENSMUST00000211117] [ENSMUST00000211197] [ENSMUST00000211608]
Predicted Effect probably damaging
Transcript: ENSMUST00000019283
AA Change: S328P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000019283
Gene: ENSMUSG00000019139
AA Change: S328P

DomainStartEndE-ValueType
low complexity region 44 54 N/A INTRINSIC
Pfam:NAD_binding_5 59 491 4.4e-141 PFAM
Pfam:Inos-1-P_synth 307 420 6.3e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000049908
SMART Domains Protein: ENSMUSP00000059039
Gene: ENSMUSG00000070003

DomainStartEndE-ValueType
LisH 16 48 2.18e-3 SMART
Pfam:SSDP 81 123 6.7e-15 PFAM
Pfam:SSDP 121 338 1.3e-59 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000093454
SMART Domains Protein: ENSMUSP00000091163
Gene: ENSMUSG00000070002

DomainStartEndE-ValueType
Pfam:ELL 6 289 2.2e-107 PFAM
low complexity region 403 416 N/A INTRINSIC
low complexity region 427 445 N/A INTRINSIC
low complexity region 447 471 N/A INTRINSIC
Pfam:Occludin_ELL 494 595 6.4e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000209285
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209430
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209751
Predicted Effect probably damaging
Transcript: ENSMUST00000210005
AA Change: S328P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210006
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210305
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210358
Predicted Effect probably benign
Transcript: ENSMUST00000210369
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210382
Predicted Effect probably benign
Transcript: ENSMUST00000210580
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210699
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210878
Predicted Effect probably benign
Transcript: ENSMUST00000211117
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211134
Predicted Effect probably benign
Transcript: ENSMUST00000211197
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211268
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211488
Predicted Effect probably benign
Transcript: ENSMUST00000211501
Predicted Effect probably benign
Transcript: ENSMUST00000211608
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211773
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 inositol-3-phosphate synthase enzyme. The encoded protein plays a critical role in the myo-inositol biosynthesis pathway by catalyzing the rate-limiting conversion of glucose 6-phosphate to myoinositol 1-phosphate. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 4. [provided by RefSeq, Nov 2011]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aanat A T 11: 116,595,646 I4F probably benign Het
Adamts17 T G 7: 66,849,878 probably benign Het
Adcy1 A T 11: 7,167,156 M1008L probably damaging Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
Atrnl1 T G 19: 57,650,441 probably benign Het
Brd3 T A 2: 27,454,350 E456V probably damaging Het
Cabin1 A T 10: 75,737,418 L712H probably damaging Het
Ccna1 T A 3: 55,054,386 T38S probably damaging Het
Chadl T A 15: 81,695,858 I59F probably benign Het
Chmp3 T C 6: 71,552,433 M27T possibly damaging Het
Clcn1 C T 6: 42,298,829 T295I probably damaging Het
Col6a6 A G 9: 105,727,170 probably null Het
Dennd2a T A 6: 39,470,356 H776L probably benign Het
Dimt1 G A 13: 106,948,711 R55K probably benign Het
Dlg5 T A 14: 24,146,251 D1626V probably damaging Het
Dock10 T A 1: 80,574,123 Y665F probably damaging Het
Hectd4 T C 5: 121,349,402 S3487P possibly damaging Het
Hivep1 T C 13: 42,157,311 V1009A possibly damaging Het
Ifna12 A T 4: 88,602,854 V152E probably damaging Het
Igf2r A T 17: 12,712,087 C903S possibly damaging Het
Ipo9 T C 1: 135,385,934 D1002G possibly damaging Het
Lamc1 G A 1: 153,247,042 T764I possibly damaging Het
Lta4h T C 10: 93,472,969 V377A probably benign Het
Lyz2 C T 10: 117,282,185 V20I probably benign Het
Myo3a A T 2: 22,323,607 L329F probably benign Het
Nlgn2 T C 11: 69,825,802 T638A probably benign Het
Oasl2 A G 5: 114,897,692 T10A probably damaging Het
Olfr173 T A 16: 58,797,350 R165S probably damaging Het
Olfr761 A T 17: 37,952,973 F17Y probably damaging Het
Pde10a A T 17: 8,953,772 N296I probably damaging Het
Plb1 A G 5: 32,362,568 I1385M probably benign Het
Pld1 T C 3: 28,087,229 V647A probably damaging Het
Pnp T C 14: 50,947,846 probably benign Het
Ppl A T 16: 5,087,463 I1656K probably damaging Het
Rimbp3 G T 16: 17,209,608 E299* probably null Het
Sbsn C A 7: 30,753,258 A566D probably damaging Het
Sh3rf1 T A 8: 61,363,191 M494K probably damaging Het
Slc2a2 T A 3: 28,718,736 V226E probably damaging Het
Smarca2 T A 19: 26,640,586 I339N possibly damaging Het
Ssfa2 T C 2: 79,641,959 probably benign Het
Tenm2 G T 11: 36,207,085 S445R possibly damaging Het
Tmem136 C A 9: 43,111,488 K190N probably benign Het
Tnip2 A T 5: 34,513,731 L56Q probably damaging Het
Trpv1 C T 11: 73,250,786 S485F probably damaging Het
Vmn2r23 T C 6: 123,704,478 M115T probably benign Het
Zbtb38 G A 9: 96,686,619 T804I probably damaging Het
Zfhx3 T C 8: 108,793,535 S430P possibly damaging Het
Other mutations in Isyna1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01363:Isyna1 APN 8 70594722 missense probably damaging 0.98
IGL01670:Isyna1 APN 8 70597056 missense probably benign 0.00
IGL02003:Isyna1 APN 8 70596757 missense possibly damaging 0.94
IGL02321:Isyna1 APN 8 70596270 missense probably damaging 1.00
R0629:Isyna1 UTSW 8 70594708 missense probably damaging 1.00
R0976:Isyna1 UTSW 8 70596286 missense probably damaging 1.00
R1186:Isyna1 UTSW 8 70595201 missense probably benign
R4869:Isyna1 UTSW 8 70596762 missense possibly damaging 0.80
R4901:Isyna1 UTSW 8 70596596 missense probably damaging 1.00
R4941:Isyna1 UTSW 8 70595496 missense probably damaging 1.00
R5141:Isyna1 UTSW 8 70594893 missense probably damaging 1.00
R5719:Isyna1 UTSW 8 70594702 missense probably damaging 1.00
R6500:Isyna1 UTSW 8 70594689 missense probably damaging 1.00
Posted On2015-04-16