Incidental Mutation 'R8957:Isyna1'
ID 682104
Institutional Source Beutler Lab
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
MMRRC Submission 068793-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.383) question?
Stock # R8957 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 71047131-71049940 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 71049372 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 428 (L428R)
Ref Sequence ENSEMBL: ENSMUSP00000148077 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019283] [ENSMUST00000049908] [ENSMUST00000093454] [ENSMUST00000209285] [ENSMUST00000210005] [ENSMUST00000210369] [ENSMUST00000210580] [ENSMUST00000211117] [ENSMUST00000211197] [ENSMUST00000211608]
AlphaFold Q9JHU9
Predicted Effect probably damaging
Transcript: ENSMUST00000019283
AA Change: L428R

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000019283
Gene: ENSMUSG00000019139
AA Change: L428R

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 probably damaging
Transcript: ENSMUST00000210005
AA Change: L428R

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect probably benign
Transcript: ENSMUST00000210369
Predicted Effect probably benign
Transcript: ENSMUST00000210580
Predicted Effect probably benign
Transcript: ENSMUST00000211117
Predicted Effect probably benign
Transcript: ENSMUST00000211197
Predicted Effect probably benign
Transcript: ENSMUST00000211501
Predicted Effect probably benign
Transcript: ENSMUST00000211608
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 100% (66/66)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500011B03Rik A G 5: 114,951,891 (GRCm39) V28A probably benign Het
Abca12 T A 1: 71,360,784 (GRCm39) D503V possibly damaging Het
Aco2 A T 15: 81,773,701 (GRCm39) probably benign Het
Aff1 A G 5: 103,981,634 (GRCm39) Q591R possibly damaging Het
Ankle2 G A 5: 110,379,121 (GRCm39) A7T possibly damaging Het
Ankrd12 T C 17: 66,291,491 (GRCm39) N1314S probably benign Het
Apeh A T 9: 107,969,572 (GRCm39) M216K probably benign Het
Armh1 T C 4: 117,087,104 (GRCm39) Y187C probably damaging Het
Ascc3 C A 10: 50,576,208 (GRCm39) A821E probably damaging Het
Atf7ip A G 6: 136,543,701 (GRCm39) D650G probably null Het
Cav1 T A 6: 17,339,235 (GRCm39) F107I probably benign Het
Ccdc146 A G 5: 21,514,585 (GRCm39) probably benign Het
Ccdc57 A G 11: 120,776,861 (GRCm39) I513T probably benign Het
Ccrl2 T C 9: 110,884,557 (GRCm39) R314G probably benign Het
Cd1d1 T C 3: 86,906,140 (GRCm39) D45G probably damaging Het
Cfap74 G A 4: 155,521,187 (GRCm39) E620K Het
Col4a1 T A 8: 11,295,906 (GRCm39) probably benign Het
Cux2 C T 5: 121,999,011 (GRCm39) G1310R probably benign Het
Cyld G T 8: 89,432,410 (GRCm39) R136L probably damaging Het
Cyp4v3 A T 8: 45,760,018 (GRCm39) N511K probably benign Het
Dchs2 G A 3: 83,189,573 (GRCm39) V1646M Het
Des A T 1: 75,340,295 (GRCm39) I401F probably damaging Het
Dis3 T C 14: 99,337,027 (GRCm39) D28G probably damaging Het
Dnai4 T C 4: 102,953,950 (GRCm39) D83G probably damaging Het
Ehd1 A G 19: 6,344,439 (GRCm39) Y233C probably damaging Het
Fcrlb G A 1: 170,735,536 (GRCm39) A246V probably benign Het
Firrm C T 1: 163,792,335 (GRCm39) R554H probably damaging Het
Fnta T C 8: 26,489,541 (GRCm39) R357G probably benign Het
Fpgs T C 2: 32,575,354 (GRCm39) D420G probably damaging Het
Hdac4 T C 1: 91,873,757 (GRCm39) probably null Het
Hdhd5 C T 6: 120,495,404 (GRCm39) probably null Het
Iqgap2 G A 13: 95,772,154 (GRCm39) R1342C probably damaging Het
Jmjd4 C T 11: 59,340,884 (GRCm39) probably benign Het
Klra1 A G 6: 130,357,609 (GRCm39) V6A possibly damaging Het
Klrb1b T A 6: 128,795,522 (GRCm39) K124N probably benign Het
Krtap19-3 T C 16: 88,674,833 (GRCm39) probably benign Het
Lrrc74b T C 16: 17,378,976 (GRCm39) T34A probably benign Het
Map9 A G 3: 82,278,687 (GRCm39) Y229C probably benign Het
Mmp28 T C 11: 83,334,636 (GRCm39) I373V possibly damaging Het
Mpdz A T 4: 81,251,216 (GRCm39) Y1086* probably null Het
Myct1 C T 10: 5,554,208 (GRCm39) T25I probably damaging Het
Myh4 A G 11: 67,141,780 (GRCm39) K880E possibly damaging Het
Nav2 T G 7: 49,220,964 (GRCm39) V1656G probably damaging Het
Or12d13 A G 17: 37,647,382 (GRCm39) V247A probably damaging Het
Or1a1 T A 11: 74,086,772 (GRCm39) S148T probably damaging Het
Or5b101 T A 19: 13,004,881 (GRCm39) I271F probably benign Het
Pate2 T C 9: 35,596,911 (GRCm39) W100R probably benign Het
Pcdhb11 A C 18: 37,554,692 (GRCm39) K7N probably benign Het
Pcdhb11 A G 18: 37,555,872 (GRCm39) T401A probably benign Het
Pgam1 T A 19: 41,905,215 (GRCm39) I183N possibly damaging Het
Pou5f1 T G 17: 35,821,366 (GRCm39) L326R possibly damaging Het
Rbm34 A C 8: 127,692,208 (GRCm39) V178G probably benign Het
Rc3h2 A G 2: 37,289,660 (GRCm39) V384A possibly damaging Het
Sec62 T A 3: 30,864,671 (GRCm39) F178L unknown Het
Slco1a6 T C 6: 142,091,493 (GRCm39) N69S probably damaging Het
Smok2b T A 17: 13,453,873 (GRCm39) L11Q probably damaging Het
Snai2 T C 16: 14,526,113 (GRCm39) S255P probably damaging Het
Spata31h1 A G 10: 82,124,908 (GRCm39) Y2701H probably benign Het
Tesk2 T A 4: 116,659,910 (GRCm39) F343I probably benign Het
Tmem106c A T 15: 97,867,481 (GRCm39) I222F probably benign Het
Tmub1 G T 5: 24,651,775 (GRCm39) T63K probably benign Het
Tnip3 A G 6: 65,582,843 (GRCm39) T217A probably benign Het
Vmn2r10 T G 5: 109,149,780 (GRCm39) K421N possibly damaging Het
Zfp975 A T 7: 42,311,157 (GRCm39) H485Q probably damaging 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
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
R9479:Isyna1 UTSW 8 71,048,193 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GATCAAATATGTGCCCTATGTTGG -3'
(R):5'- AATATTCTCGATACAGCTGCGC -3'

Sequencing Primer
(F):5'- TTGGACGAGTACACCTCCGAG -3'
(R):5'- CTGGCGGAAGAGGGCATTC -3'
Posted On 2021-08-31