Incidental Mutation 'IGL02003:Isyna1'
ID 182194
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Isyna1
Ensembl Gene ENSMUSG00000019139
Gene Name myo-inositol 1-phosphate synthase A1
Synonyms 1300017C10Rik, inositol-3-phosphate synthase 1, myo-inositol 1-phosphate synthase A1
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.383) question?
Stock # IGL02003
Quality Score
Status
Chromosome 8
Chromosomal Location 71047131-71049940 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 71049407 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 440 (V440M)
Ref Sequence ENSEMBL: ENSMUSP00000148077 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019283] [ENSMUST00000049908] [ENSMUST00000093454] [ENSMUST00000209285] [ENSMUST00000210005] [ENSMUST00000211197] [ENSMUST00000211117] [ENSMUST00000210369] [ENSMUST00000210580] [ENSMUST00000211608]
AlphaFold Q9JHU9
Predicted Effect possibly damaging
Transcript: ENSMUST00000019283
AA Change: V440M

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000019283
Gene: ENSMUSG00000019139
AA Change: V440M

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 possibly damaging
Transcript: ENSMUST00000210005
AA Change: V440M

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210878
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210006
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211134
Predicted Effect probably benign
Transcript: ENSMUST00000211197
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210382
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210699
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210305
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210358
Predicted Effect probably benign
Transcript: ENSMUST00000211117
Predicted Effect probably benign
Transcript: ENSMUST00000210369
Predicted Effect probably benign
Transcript: ENSMUST00000210580
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211268
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211488
Predicted Effect probably benign
Transcript: ENSMUST00000211608
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211773
Predicted Effect probably benign
Transcript: ENSMUST00000211501
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930449E01Rik A G 14: 105,736,392 (GRCm39) noncoding transcript Het
Adam1b G A 5: 121,639,354 (GRCm39) L564F probably damaging Het
Alms1 C T 6: 85,599,205 (GRCm39) P1344S possibly damaging Het
Cnnm2 G T 19: 46,856,998 (GRCm39) G699W probably damaging Het
Crybg2 A G 4: 133,799,767 (GRCm39) K309R probably benign Het
Csnk2a1 C T 2: 152,118,890 (GRCm39) R333* probably null Het
Eif3m C T 2: 104,843,188 (GRCm39) probably benign Het
Fgfr2 T C 7: 129,820,802 (GRCm39) D244G probably damaging Het
H2-Q10 A G 17: 35,781,338 (GRCm39) I47V probably benign Het
Hmcn2 C T 2: 31,318,994 (GRCm39) T3898I possibly damaging Het
Itpr3 A G 17: 27,340,449 (GRCm39) K2654E probably damaging Het
Lrrd1 C T 5: 3,899,857 (GRCm39) T54I probably damaging Het
Lrrk2 G A 15: 91,615,694 (GRCm39) V843M probably damaging Het
Morc2b A T 17: 33,357,298 (GRCm39) V158D probably benign Het
Mroh7 T C 4: 106,559,726 (GRCm39) T734A probably damaging Het
Mylk3 T C 8: 86,085,727 (GRCm39) D136G probably benign Het
Nos1 T C 5: 118,043,530 (GRCm39) S602P probably damaging Het
Nsmaf T C 4: 6,418,522 (GRCm39) I428V probably benign Het
Nup93 T G 8: 95,028,737 (GRCm39) Y323* probably null Het
Or5ac21 G A 16: 59,123,996 (GRCm39) G161D probably damaging Het
Or7g21 A T 9: 19,032,361 (GRCm39) M34L probably benign Het
Or8b50 C T 9: 38,518,136 (GRCm39) A125V probably damaging Het
Ppm1m C A 9: 106,076,356 (GRCm39) G13W probably damaging Het
Prok1 T G 3: 107,142,979 (GRCm39) H75P probably damaging Het
Ptprb A T 10: 116,203,410 (GRCm39) I1774F probably damaging Het
Rasl10b A T 11: 83,308,679 (GRCm39) E73V probably damaging Het
Rhbdl3 A G 11: 80,228,342 (GRCm39) T271A possibly damaging Het
Serpina3a A G 12: 104,082,259 (GRCm39) M11V probably benign Het
Setdb2 T C 14: 59,650,939 (GRCm39) E464G probably damaging Het
Slc8a1 A G 17: 81,735,625 (GRCm39) I749T possibly damaging Het
Slco6d1 T A 1: 98,408,493 (GRCm39) I463N probably damaging Het
Sncb A T 13: 54,910,743 (GRCm39) V51E probably damaging Het
Stk32c A G 7: 138,768,069 (GRCm39) S71P possibly damaging Het
Tet1 A G 10: 62,652,179 (GRCm39) V1613A possibly damaging Het
Vmn2r91 T A 17: 18,327,921 (GRCm39) I505K probably benign Het
Zfp110 A T 7: 12,583,832 (GRCm39) K827* probably null Het
Zfp438 A T 18: 5,214,503 (GRCm39) C152S probably benign Het
Other mutations in Isyna1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01363:Isyna1 APN 8 71,047,372 (GRCm39) missense probably damaging 0.98
IGL01670:Isyna1 APN 8 71,049,706 (GRCm39) missense probably benign 0.00
IGL02321:Isyna1 APN 8 71,048,920 (GRCm39) missense probably damaging 1.00
IGL02649:Isyna1 APN 8 71,048,904 (GRCm39) missense probably damaging 1.00
R0629:Isyna1 UTSW 8 71,047,358 (GRCm39) missense probably damaging 1.00
R0976:Isyna1 UTSW 8 71,048,936 (GRCm39) missense probably damaging 1.00
R1186:Isyna1 UTSW 8 71,047,851 (GRCm39) missense probably benign
R4869:Isyna1 UTSW 8 71,049,412 (GRCm39) missense possibly damaging 0.80
R4901:Isyna1 UTSW 8 71,049,246 (GRCm39) missense probably damaging 1.00
R4941:Isyna1 UTSW 8 71,048,146 (GRCm39) missense probably damaging 1.00
R5141:Isyna1 UTSW 8 71,047,543 (GRCm39) missense probably damaging 1.00
R5719:Isyna1 UTSW 8 71,047,352 (GRCm39) missense probably damaging 1.00
R6500:Isyna1 UTSW 8 71,047,339 (GRCm39) missense probably damaging 1.00
R8095:Isyna1 UTSW 8 71,049,035 (GRCm39) nonsense probably null
R8957:Isyna1 UTSW 8 71,049,372 (GRCm39) missense probably damaging 0.99
R9479:Isyna1 UTSW 8 71,048,193 (GRCm39) missense probably damaging 0.99
Posted On 2014-05-07