Incidental Mutation 'R5719:Isyna1'
ID 451350
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 043339-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.383) question?
Stock # R5719 (G1)
Quality Score 150
Status Validated
Chromosome 8
Chromosomal Location 71047131-71049940 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 71047352 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 25 (Y25C)
Ref Sequence ENSEMBL: ENSMUSP00000148077 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019283] [ENSMUST00000049908] [ENSMUST00000093454] [ENSMUST00000209285] [ENSMUST00000210005] [ENSMUST00000210580] [ENSMUST00000211197] [ENSMUST00000210369] [ENSMUST00000211117] [ENSMUST00000211608]
AlphaFold Q9JHU9
Predicted Effect probably damaging
Transcript: ENSMUST00000019283
AA Change: Y25C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000019283
Gene: ENSMUSG00000019139
AA Change: Y25C

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 damaging
Transcript: ENSMUST00000209285
AA Change: Y25C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209430
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209751
Predicted Effect probably damaging
Transcript: ENSMUST00000210005
AA Change: Y25C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210699
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210358
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211134
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210305
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210382
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210878
Predicted Effect probably benign
Transcript: ENSMUST00000210580
Predicted Effect probably benign
Transcript: ENSMUST00000211197
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210006
Predicted Effect probably benign
Transcript: ENSMUST00000210369
Predicted Effect probably benign
Transcript: ENSMUST00000211117
Predicted Effect probably benign
Transcript: ENSMUST00000211608
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211488
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211773
Predicted Effect probably benign
Transcript: ENSMUST00000211501
Meta Mutation Damage Score 0.7452 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 98% (79/81)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A130051J06Rik C T 15: 95,688,641 (GRCm39) probably benign Het
A630001G21Rik T A 1: 85,651,106 (GRCm39) R110W probably benign Het
Abca4 T C 3: 121,928,915 (GRCm39) probably null Het
Abcc3 T C 11: 94,241,894 (GRCm39) N1379S probably damaging Het
Actrt3 A C 3: 30,652,276 (GRCm39) F273V probably benign Het
Adam22 T C 5: 8,417,217 (GRCm39) D75G probably benign Het
Ash1l C A 3: 88,961,805 (GRCm39) D2392E possibly damaging Het
Ash1l T C 3: 88,965,933 (GRCm39) I2445T probably damaging Het
Bltp2 T A 11: 78,164,071 (GRCm39) H1137Q probably damaging Het
Cacna2d2 A G 9: 107,401,851 (GRCm39) I762V probably benign Het
Ccdc127 T A 13: 74,505,187 (GRCm39) probably benign Het
Ccdc91 C G 6: 147,477,001 (GRCm39) L230V unknown Het
Cdk13 A G 13: 17,894,240 (GRCm39) I1129T probably damaging Het
Cnot1 C T 8: 96,470,924 (GRCm39) R1308H possibly damaging Het
Crhr2 T C 6: 55,080,207 (GRCm39) H144R probably damaging Het
Dnmt1 T C 9: 20,823,891 (GRCm39) N993S possibly damaging Het
Eif4g1 T A 16: 20,507,761 (GRCm39) V1182D probably damaging Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Fam234a T A 17: 26,433,627 (GRCm39) Q399L possibly damaging Het
Fyb1 A T 15: 6,610,350 (GRCm39) K308* probably null Het
Gfral C T 9: 76,104,328 (GRCm39) R228Q probably benign Het
Gm10309 A T 17: 86,806,421 (GRCm39) probably benign Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Gm5501 G A 18: 9,917,417 (GRCm39) noncoding transcript Het
Gm6309 A T 5: 146,104,992 (GRCm39) V307D probably benign Het
Gm9871 T A 6: 101,773,148 (GRCm39) noncoding transcript Het
Greb1l G A 18: 10,542,427 (GRCm39) E1341K probably damaging Het
Herc3 T A 6: 58,871,528 (GRCm39) V70E possibly damaging Het
Hes7 A G 11: 69,012,415 (GRCm39) E41G probably damaging Het
Ifi27l2b T C 12: 103,422,046 (GRCm39) D106G unknown Het
Igfbp6 A T 15: 102,056,616 (GRCm39) Y184F probably damaging Het
Kcng3 G T 17: 83,938,563 (GRCm39) T162K possibly damaging Het
Krt36 T C 11: 99,994,987 (GRCm39) D195G possibly damaging Het
Lrwd1 A T 5: 136,161,093 (GRCm39) probably null Het
Lsg1 C T 16: 30,380,593 (GRCm39) A615T probably benign Het
Myo5a A T 9: 75,059,213 (GRCm39) E480D probably damaging Het
Myrf T A 19: 10,194,087 (GRCm39) D690V probably damaging Het
N4bp1 T C 8: 87,578,312 (GRCm39) I684M probably damaging Het
Nlrc3 C T 16: 3,781,589 (GRCm39) A607T probably damaging Het
Nuak1 A T 10: 84,245,584 (GRCm39) I87N probably damaging Het
Odad2 G T 18: 7,211,496 (GRCm39) Q793K probably benign Het
Or5p66 T G 7: 107,885,599 (GRCm39) T245P probably damaging Het
Or5w11 T C 2: 87,459,475 (GRCm39) probably null Het
Or8b4 A T 9: 37,830,647 (GRCm39) E236D probably damaging Het
Osbpl9 T A 4: 108,919,763 (GRCm39) R689* probably null Het
Ppargc1b T A 18: 61,440,639 (GRCm39) M744L probably benign Het
Prss40 A T 1: 34,591,598 (GRCm39) probably benign Het
Ptprd T A 4: 75,972,839 (GRCm39) probably null Het
Rft1 T C 14: 30,385,183 (GRCm39) probably benign Het
Rftn2 C T 1: 55,253,445 (GRCm39) V53I probably damaging Het
Rnaset2a T C 17: 8,350,879 (GRCm39) Y167C probably damaging Het
Schip1 T C 3: 68,315,560 (GRCm39) probably benign Het
Scn5a A C 9: 119,359,118 (GRCm39) L643R possibly damaging Het
Shroom3 T A 5: 93,090,877 (GRCm39) M1128K probably benign Het
Skint8 C A 4: 111,807,390 (GRCm39) L359M probably damaging Het
Slc14a2 A G 18: 78,252,257 (GRCm39) L18P probably benign Het
Slc22a3 C T 17: 12,642,691 (GRCm39) V509M probably damaging Het
Slc7a5 A C 8: 122,610,381 (GRCm39) F478V probably benign Het
Smc1b T A 15: 84,980,859 (GRCm39) N803I probably benign Het
Snf8 T A 11: 95,932,551 (GRCm39) N115K probably damaging Het
Stox2 T A 8: 47,866,172 (GRCm39) K57* probably null Het
Tmem248 T A 5: 130,258,429 (GRCm39) F41I probably damaging Het
Tmprss7 T C 16: 45,506,793 (GRCm39) S90G probably damaging Het
Top3b T C 16: 16,703,700 (GRCm39) V285A probably damaging Het
Tsen15 T C 1: 152,247,534 (GRCm39) T153A probably damaging Het
Usp34 T G 11: 23,304,846 (GRCm39) S360A probably benign Het
Wdr24 T C 17: 26,047,314 (GRCm39) probably null Het
Zbtb2 G A 10: 4,319,456 (GRCm39) T190I probably benign Het
Zranb3 T C 1: 127,891,613 (GRCm39) S788G 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
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
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
Predicted Primers PCR Primer
(F):5'- CAGTCTGATCCAACTCTGGG -3'
(R):5'- ATTCTCCTAGTAGCCACGGC -3'

Sequencing Primer
(F):5'- GGCCGGTAAGTACGAACCTATC -3'
(R):5'- TTGGCCAGAACAGCAGC -3'
Posted On 2017-01-03