Incidental Mutation 'R0106:Isy1'
ID 17629
Institutional Source Beutler Lab
Gene Symbol Isy1
Ensembl Gene ENSMUSG00000030056
Gene Name ISY1 splicing factor homolog
Synonyms 5830446M03Rik
MMRRC Submission 038392-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.211) question?
Stock # R0106 (G1)
Quality Score
Status Validated
Chromosome 6
Chromosomal Location 87795429-87815723 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 87796167 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q69ZQ2
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: 87.6%
  • 3x: 83.1%
  • 10x: 68.0%
  • 20x: 43.0%
Validation Efficiency 97% (89/92)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933415A04Rik A T 11: 43,478,200 (GRCm39) probably benign Het
A730018C14Rik A T 12: 112,381,628 (GRCm39) noncoding transcript Het
Abca5 A T 11: 110,210,651 (GRCm39) L176Q probably damaging Het
Aspm C A 1: 139,404,614 (GRCm39) Q1315K probably benign Het
Bpifb4 A G 2: 153,782,888 (GRCm39) D31G probably benign Het
Brf1 A G 12: 112,937,083 (GRCm39) probably benign Het
Card19 A C 13: 49,361,621 (GRCm39) D3E probably benign Het
Chd6 A G 2: 160,809,822 (GRCm39) F1480L probably damaging Het
Cldn25 A G 9: 48,958,933 (GRCm39) noncoding transcript Het
Col11a2 A G 17: 34,276,249 (GRCm39) N799D probably damaging Het
Cpb1 T C 3: 20,320,697 (GRCm39) probably null Het
Cyp2g1 T A 7: 26,513,607 (GRCm39) I182N probably damaging Het
Dntt A T 19: 41,044,185 (GRCm39) probably benign Het
Dscc1 C A 15: 54,946,966 (GRCm39) C253F probably benign Het
Dysf C A 6: 84,090,318 (GRCm39) F956L probably benign Het
Ephb6 T C 6: 41,596,528 (GRCm39) probably benign Het
Firrm T C 1: 163,810,380 (GRCm39) probably benign Het
Fkbp6 C T 5: 135,368,858 (GRCm39) R234Q probably benign Het
Gda T C 19: 21,374,920 (GRCm39) D332G probably benign Het
Ggt7 C T 2: 155,336,813 (GRCm39) A560T possibly damaging Het
Glis3 A T 19: 28,509,268 (GRCm39) S239T possibly damaging Het
Glyctk G A 9: 106,033,168 (GRCm39) P124L probably benign Het
Gm10845 T A 14: 80,100,644 (GRCm39) noncoding transcript Het
H13 A G 2: 152,528,176 (GRCm39) K175R probably benign Het
Igsf6 T A 7: 120,673,677 (GRCm39) I18F probably benign Het
Immt A G 6: 71,828,828 (GRCm39) S128G probably benign Het
Kif13a G T 13: 46,978,823 (GRCm39) probably benign Het
L2hgdh A T 12: 69,752,563 (GRCm39) Y239* probably null Het
Lamp1 A G 8: 13,224,550 (GRCm39) T405A probably damaging Het
Lpin1 A T 12: 16,590,980 (GRCm39) N817K possibly damaging Het
Macf1 G A 4: 123,302,357 (GRCm39) T715I probably benign Het
Mapk12 T C 15: 89,017,187 (GRCm39) probably benign Het
Mdga2 A T 12: 66,763,480 (GRCm39) N205K probably damaging Het
Nat10 A G 2: 103,587,550 (GRCm39) V55A probably damaging Het
Nlrp10 T C 7: 108,524,529 (GRCm39) E317G possibly damaging Het
Nolc1 T A 19: 46,068,528 (GRCm39) probably benign Het
Nomo1 T C 7: 45,687,056 (GRCm39) I72T probably damaging Het
Or5b98 A G 19: 12,931,720 (GRCm39) I256V probably benign Het
Pappa2 C T 1: 158,542,547 (GRCm39) C1780Y probably damaging Het
Pgm2l1 A G 7: 99,899,580 (GRCm39) M65V probably benign Het
Pnisr T C 4: 21,874,617 (GRCm39) probably benign Het
Prss34 A T 17: 25,517,700 (GRCm39) D25V probably damaging Het
Ptpn1 T C 2: 167,818,338 (GRCm39) probably benign Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Pygb A G 2: 150,648,123 (GRCm39) D119G probably benign Het
Racgap1 T C 15: 99,540,839 (GRCm39) T4A possibly damaging Het
Rap1gap2 A G 11: 74,326,570 (GRCm39) C166R probably benign Het
Rbm28 C A 6: 29,127,802 (GRCm39) V705L probably benign Het
Rgs1 C T 1: 144,124,287 (GRCm39) V50M probably benign Het
Rgs12 C T 5: 35,124,008 (GRCm39) T597I probably benign Het
Ros1 T C 10: 52,018,363 (GRCm39) N765S possibly damaging Het
Ruvbl1 A G 6: 88,450,182 (GRCm39) R58G probably damaging Het
Slc6a7 A G 18: 61,135,295 (GRCm39) V411A probably benign Het
Slco1a6 A T 6: 142,103,116 (GRCm39) probably benign Het
Smc1b A T 15: 84,955,020 (GRCm39) D1077E probably damaging Het
Srek1 G A 13: 103,880,131 (GRCm39) H476Y unknown Het
Strn3 A G 12: 51,668,571 (GRCm39) V673A probably benign Het
Tepsin T C 11: 119,982,637 (GRCm39) probably null Het
Tmem131l C T 3: 83,842,122 (GRCm39) probably benign Het
Tmem132c T C 5: 127,631,733 (GRCm39) V664A possibly damaging Het
Tmprss15 T C 16: 78,800,277 (GRCm39) D602G probably damaging Het
Trbv15 T C 6: 41,118,199 (GRCm39) probably benign Het
Trpm4 A G 7: 44,968,664 (GRCm39) probably null Het
Wdr70 A T 15: 8,049,068 (GRCm39) probably null Het
Other mutations in Isy1
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4354001:Isy1 UTSW 6 87,810,653 (GRCm39) missense possibly damaging 0.68
R0105:Isy1 UTSW 6 87,796,167 (GRCm39) missense probably damaging 1.00
R0105:Isy1 UTSW 6 87,796,167 (GRCm39) missense probably damaging 1.00
R0106:Isy1 UTSW 6 87,796,167 (GRCm39) missense probably damaging 1.00
R0363:Isy1 UTSW 6 87,796,167 (GRCm39) missense probably damaging 1.00
R0718:Isy1 UTSW 6 87,796,158 (GRCm39) missense probably damaging 1.00
R0866:Isy1 UTSW 6 87,796,094 (GRCm39) missense probably benign 0.04
R0926:Isy1 UTSW 6 87,796,125 (GRCm39) missense probably benign
R1674:Isy1 UTSW 6 87,811,469 (GRCm39) missense probably damaging 1.00
R3783:Isy1 UTSW 6 87,798,527 (GRCm39) missense possibly damaging 0.70
R7320:Isy1 UTSW 6 87,810,688 (GRCm39) missense unknown
R8930:Isy1 UTSW 6 87,798,513 (GRCm39) missense probably damaging 0.99
R8932:Isy1 UTSW 6 87,798,513 (GRCm39) missense probably damaging 0.99
R9710:Isy1 UTSW 6 87,796,574 (GRCm39) missense possibly damaging 0.93
Posted On 2013-01-31