Incidental Mutation 'IGL01670:Isyna1'
ID 103451
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 # IGL01670
Quality Score
Status
Chromosome 8
Chromosomal Location 71047131-71049940 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 71049706 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 511 (P511L)
Ref Sequence ENSEMBL: ENSMUSP00000148077 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019283] [ENSMUST00000049908] [ENSMUST00000093454] [ENSMUST00000209285] [ENSMUST00000210005] [ENSMUST00000210580] [ENSMUST00000210369] [ENSMUST00000211197] [ENSMUST00000211117] [ENSMUST00000211608]
AlphaFold Q9JHU9
Predicted Effect probably benign
Transcript: ENSMUST00000019283
AA Change: P511L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000019283
Gene: ENSMUSG00000019139
AA Change: P511L

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 benign
Transcript: ENSMUST00000210005
AA Change: P511L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211134
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210358
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210878
Predicted Effect probably benign
Transcript: ENSMUST00000210580
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210006
Predicted Effect probably benign
Transcript: ENSMUST00000210369
Predicted Effect probably benign
Transcript: ENSMUST00000211197
Predicted Effect probably benign
Transcript: ENSMUST00000211117
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210699
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210305
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210382
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211773
Predicted Effect probably benign
Transcript: ENSMUST00000211608
Predicted Effect probably benign
Transcript: ENSMUST00000211501
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211488
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211268
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acy1 A C 9: 106,314,006 (GRCm39) probably benign Het
Add1 C A 5: 34,777,407 (GRCm39) Q57K probably damaging Het
Alms1 A G 6: 85,655,132 (GRCm39) E3226G probably benign Het
Arl1 G T 10: 88,577,884 (GRCm39) R151L probably damaging Het
Cabs1 T A 5: 88,127,869 (GRCm39) D173E possibly damaging Het
Cdc34b T C 11: 94,632,845 (GRCm39) L15P probably benign Het
Cdyl2 A G 8: 117,351,092 (GRCm39) V13A probably damaging Het
Chd7 G T 4: 8,827,033 (GRCm39) R1026L probably damaging Het
Cldn34b4 T C X: 75,441,195 (GRCm39) S151P probably damaging Het
Col14a1 T A 15: 55,192,662 (GRCm39) I25N unknown Het
Crisp4 T A 1: 18,198,901 (GRCm39) T178S probably benign Het
Csmd2 C T 4: 128,407,164 (GRCm39) probably benign Het
Csmd3 T G 15: 47,475,225 (GRCm39) N2454H probably damaging Het
Cytip A T 2: 58,023,785 (GRCm39) I345N probably damaging Het
Frem2 A T 3: 53,564,358 (GRCm39) S50T possibly damaging Het
Gm9747 C T 1: 82,211,870 (GRCm39) probably benign Het
Gpr37 A G 6: 25,669,833 (GRCm39) F337S probably damaging Het
Herc1 A G 9: 66,394,342 (GRCm39) E4182G probably damaging Het
Kdm4a T C 4: 118,017,698 (GRCm39) Y456C probably damaging Het
Kera A T 10: 97,444,939 (GRCm39) R99S possibly damaging Het
Larp7-ps T C 4: 92,079,737 (GRCm39) probably null Het
Mcm2 A G 6: 88,864,614 (GRCm39) probably benign Het
Myl12a T C 17: 71,303,848 (GRCm39) T10A probably benign Het
Nav3 A G 10: 109,550,102 (GRCm39) V1876A possibly damaging Het
Nkx6-1 T A 5: 101,809,806 (GRCm39) Q247L probably benign Het
Nol8 A C 13: 49,814,784 (GRCm39) K297N possibly damaging Het
Or4c119 T A 2: 88,987,261 (GRCm39) Y86F probably benign Het
Or51e1 A T 7: 102,358,772 (GRCm39) Q102L probably damaging Het
Or5w18 A G 2: 87,633,224 (GRCm39) T164A probably benign Het
Pard3b A T 1: 62,250,807 (GRCm39) N579Y probably damaging Het
Pdcd11 T A 19: 47,094,743 (GRCm39) L509H probably damaging Het
Prss29 T C 17: 25,541,437 (GRCm39) S266P probably benign Het
Rapgef3 G T 15: 97,647,543 (GRCm39) H766N probably benign Het
Rasa1 A T 13: 85,373,609 (GRCm39) S818T probably damaging Het
Rtn4ip1 A G 10: 43,804,322 (GRCm39) M1V probably null Het
Sall1 A T 8: 89,758,199 (GRCm39) V635D probably benign Het
Slc35b4 C T 6: 34,147,484 (GRCm39) V35I probably benign Het
Slc5a11 G A 7: 122,869,172 (GRCm39) A587T probably benign Het
Slc6a21 T C 7: 44,937,557 (GRCm39) V616A possibly damaging Het
Sorl1 A G 9: 41,912,788 (GRCm39) S1398P possibly damaging Het
Srcap A G 7: 127,127,604 (GRCm39) K390E probably damaging Het
Sycp2 C T 2: 178,019,843 (GRCm39) E558K probably benign Het
Tcf20 T C 15: 82,739,564 (GRCm39) N629S possibly damaging Het
Tmem154 A G 3: 84,591,537 (GRCm39) Y29C probably damaging Het
Tmtc3 A G 10: 100,282,987 (GRCm39) I856T probably benign Het
Zswim6 A G 13: 107,865,101 (GRCm39) noncoding transcript Het
Other mutations in Isyna1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01363:Isyna1 APN 8 71,047,372 (GRCm39) missense probably damaging 0.98
IGL02003:Isyna1 APN 8 71,049,407 (GRCm39) missense possibly damaging 0.94
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 2014-01-21