Incidental Mutation 'R0105:Isy1'
ID17631
Institutional Source Beutler Lab
Gene Symbol Isy1
Ensembl Gene ENSMUSG00000030056
Gene NameISY1 splicing factor homolog
Synonyms5830446M03Rik
MMRRC Submission 038391-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.226) question?
Stock #R0105 (G1)
Quality Score
Status Validated
Chromosome6
Chromosomal Location87814269-87838798 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 87819185 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Tryptophan at position 257 (R257W)
Ref Sequence ENSEMBL: ENSMUSP00000086923 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089497] [ENSMUST00000204419] [ENSMUST00000204881] [ENSMUST00000205070]
PDB Structure
Solution structure of Isy1 domain in hypothetical protein [SOLUTION NMR]
Predicted Effect probably damaging
Transcript: ENSMUST00000089497
AA Change: R257W

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000086923
Gene: ENSMUSG00000030056
AA Change: R257W

DomainStartEndE-ValueType
Pfam:Isy1 1 266 5.1e-101 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203429
Predicted Effect probably benign
Transcript: ENSMUST00000204169
Predicted Effect probably benign
Transcript: ENSMUST00000204419
SMART Domains Protein: ENSMUSP00000144743
Gene: ENSMUSG00000107928

DomainStartEndE-ValueType
Pfam:Isy1 1 218 1.8e-83 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204881
SMART Domains Protein: ENSMUSP00000144710
Gene: ENSMUSG00000030056

DomainStartEndE-ValueType
Pfam:Isy1 1 124 6.8e-51 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000205070
SMART Domains Protein: ENSMUSP00000144956
Gene: ENSMUSG00000030056

DomainStartEndE-ValueType
Pfam:Isy1 1 50 8.1e-17 PFAM
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 85.3%
  • 3x: 77.7%
  • 10x: 47.9%
  • 20x: 15.1%
Validation Efficiency 96% (53/55)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus represents naturally occurring read-through transcription between the neighboring ISY1 (ISY1 splicing factor homolog) and RAB43 (RAB43, member RAS oncogene family) gene on chromosome 3. The read-through transcript encodes a protein that shares sequence identity with the upstream gene product, but its C-terminus is distinct due to a frameshift relative to the downstream gene. [provided by RefSeq, Mar 2011]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik T A 15: 8,187,392 V698D probably benign Het
A530053G22Rik T C 6: 60,402,152 noncoding transcript Het
Adcy9 A G 16: 4,288,388 V954A probably damaging Het
Aldh8a1 T A 10: 21,395,539 M388K probably damaging Het
Cdsn A C 17: 35,556,138 R521S possibly damaging Het
Cog3 A G 14: 75,722,140 S591P probably damaging Het
Crmp1 T A 5: 37,284,135 D520E probably damaging Het
Ddhd1 T C 14: 45,610,690 D507G probably benign Het
Dnah6 C T 6: 73,155,279 A1147T probably damaging Het
Dsg2 T C 18: 20,602,054 S1030P probably benign Het
Fam20b T C 1: 156,690,570 E218G probably damaging Het
Gab2 T C 7: 97,299,072 Y290H probably damaging Het
Gm973 A G 1: 59,582,474 Q591R probably null Het
Gsdmc2 T C 15: 63,828,177 T249A probably benign Het
Il15ra T A 2: 11,730,648 probably null Het
Krt76 T C 15: 101,884,912 T564A unknown Het
Lrrk1 G T 7: 66,292,341 D716E probably damaging Het
Mogat1 A G 1: 78,523,670 T124A probably benign Het
Mroh7 T C 4: 106,711,270 T48A possibly damaging Het
Olfr1243 T C 2: 89,528,363 T16A probably benign Het
Pkhd1 G A 1: 20,523,732 Q1386* probably null Het
Pla2r1 T C 2: 60,514,981 R344G possibly damaging Het
Plekhg4 G A 8: 105,382,012 V1202M possibly damaging Het
Ppil4 A G 10: 7,798,446 Y118C probably damaging Het
Ptpn4 C T 1: 119,687,605 probably null Het
Reln G A 5: 22,048,815 R600W probably damaging Het
Sumf2 T A 5: 129,849,894 probably benign Het
Tex10 C A 4: 48,468,957 V73F probably damaging Het
Tgm5 C A 2: 121,077,012 G77W probably damaging Het
Tnfrsf21 T A 17: 43,040,191 probably null Het
Treml2 C T 17: 48,302,828 T96I probably damaging Het
Zcchc17 T A 4: 130,349,306 D28V probably benign Het
Zkscan6 T A 11: 65,821,985 L248Q probably damaging Het
Other mutations in Isy1
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4354001:Isy1 UTSW 6 87833671 missense possibly damaging 0.68
R0105:Isy1 UTSW 6 87819185 missense probably damaging 1.00
R0106:Isy1 UTSW 6 87819185 missense probably damaging 1.00
R0106:Isy1 UTSW 6 87819185 missense probably damaging 1.00
R0363:Isy1 UTSW 6 87819185 missense probably damaging 1.00
R0718:Isy1 UTSW 6 87819176 missense probably damaging 1.00
R0866:Isy1 UTSW 6 87819112 missense probably benign 0.04
R0926:Isy1 UTSW 6 87819143 missense probably benign
R1674:Isy1 UTSW 6 87834487 missense probably damaging 1.00
R3783:Isy1 UTSW 6 87821545 missense possibly damaging 0.70
R7320:Isy1 UTSW 6 87833706 missense unknown
Posted On2013-01-31