Incidental Mutation 'R0926:Isy1'
ID 83195
Institutional Source Beutler Lab
Gene Symbol Isy1
Ensembl Gene ENSMUSG00000030056
Gene Name ISY1 splicing factor homolog
Synonyms 5830446M03Rik
MMRRC Submission 039073-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.211) question?
Stock # R0926 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 87795429-87815723 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 87796125 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 271 (T271A)
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 benign
Transcript: ENSMUST00000089497
AA Change: T271A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000086923
Gene: ENSMUSG00000030056
AA Change: T271A

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 0.0586 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 95.2%
Validation Efficiency 98% (61/62)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik T C 9: 57,164,832 (GRCm39) D514G probably damaging Het
Acbd7 A T 2: 3,341,478 (GRCm39) I41F possibly damaging Het
Actr8 G T 14: 29,709,181 (GRCm39) V262L probably benign Het
Anp32e A G 3: 95,844,454 (GRCm39) D108G probably damaging Het
Banp G A 8: 122,747,294 (GRCm39) G448S probably benign Het
Camsap3 G A 8: 3,637,960 (GRCm39) probably null Het
Cd22 C A 7: 30,568,934 (GRCm39) probably null Het
Cfap58 A T 19: 47,951,001 (GRCm39) Q454L probably damaging Het
Cntn4 C T 6: 106,632,542 (GRCm39) T522I probably benign Het
Col11a1 G A 3: 113,883,829 (GRCm39) D233N unknown Het
Csmd1 G T 8: 16,083,590 (GRCm39) probably null Het
Csmd3 T A 15: 47,840,429 (GRCm39) Y946F probably damaging Het
D5Ertd579e G T 5: 36,830,210 (GRCm39) P38Q probably damaging Het
Dnal4 T C 15: 79,646,226 (GRCm39) T93A probably benign Het
Dsp A T 13: 38,367,194 (GRCm39) D614V probably damaging Het
Fcgr1 A T 3: 96,199,682 (GRCm39) I75N possibly damaging Het
Fgd6 T A 10: 93,970,909 (GRCm39) Y1229N probably benign Het
Fhip2a G A 19: 57,369,522 (GRCm39) A383T probably damaging Het
Frmpd1 T G 4: 45,268,497 (GRCm39) L214R probably damaging Het
Gapvd1 A T 2: 34,602,337 (GRCm39) D603E probably damaging Het
H2-M9 A G 17: 36,952,665 (GRCm39) V127A probably damaging Het
Herc2 T A 7: 55,782,296 (GRCm39) S1328T possibly damaging Het
Ica1l T C 1: 60,045,456 (GRCm39) N269S probably benign Het
Il18r1 T C 1: 40,526,188 (GRCm39) Y245H probably damaging Het
Il6ra A T 3: 89,794,376 (GRCm39) V195E probably damaging Het
Inpp5j A G 11: 3,451,439 (GRCm39) probably benign Het
Klra9 T C 6: 130,155,993 (GRCm39) Y254C probably damaging Het
Ly6e T G 15: 74,830,219 (GRCm39) S73A probably damaging Het
Mcmdc2 T A 1: 9,990,801 (GRCm39) L326* probably null Het
Muc4 G A 16: 32,576,570 (GRCm39) probably benign Het
Myh3 A G 11: 66,981,340 (GRCm39) probably null Het
Ndor1 G A 2: 25,138,360 (GRCm39) H409Y probably benign Het
Nwd2 A G 5: 63,965,234 (GRCm39) D1606G probably damaging Het
Or2t44 A G 11: 58,677,935 (GRCm39) N292D probably damaging Het
Or3a1d G A 11: 74,238,132 (GRCm39) R93C probably benign Het
Or4f7 A G 2: 111,644,892 (GRCm39) Y60H probably damaging Het
Or51f1e T C 7: 102,747,092 (GRCm39) L48P probably damaging Het
Or5b99 A T 19: 12,976,554 (GRCm39) D68V probably damaging Het
Or5h18 A G 16: 58,848,051 (GRCm39) I73T possibly damaging Het
Or5l13 A T 2: 87,780,266 (GRCm39) F104I probably damaging Het
Paox C A 7: 139,713,951 (GRCm39) T237K probably damaging Het
Pcmtd1 T A 1: 7,231,243 (GRCm39) L4I probably damaging Het
Pfkl T A 10: 77,836,523 (GRCm39) T165S probably damaging Het
Pik3ap1 A G 19: 41,290,964 (GRCm39) S523P probably benign Het
Pitpnm1 A G 19: 4,162,338 (GRCm39) D1056G probably damaging Het
Pitpnm2 G A 5: 124,269,272 (GRCm39) T450I probably benign Het
Pou2f3 T C 9: 43,058,198 (GRCm39) D37G probably damaging Het
Prdm5 A G 6: 65,860,531 (GRCm39) H221R probably damaging Het
Pwp1 T A 10: 85,712,378 (GRCm39) I72N probably damaging Het
Rhou A G 8: 124,387,715 (GRCm39) E149G probably damaging Het
She A G 3: 89,758,901 (GRCm39) probably benign Het
Slc26a9 A C 1: 131,680,954 (GRCm39) H121P probably benign Het
Spag17 A G 3: 99,979,432 (GRCm39) D1431G probably benign Het
Trpm3 A T 19: 22,965,407 (GRCm39) D1634V probably benign Het
Ttn A G 2: 76,627,571 (GRCm39) probably benign Het
Zc3h14 T A 12: 98,724,849 (GRCm39) D170E possibly damaging Het
Zcrb1 T C 15: 93,289,409 (GRCm39) K51E probably damaging Het
Zfp110 C T 7: 12,583,808 (GRCm39) Q819* probably null Het
Zfp616 A G 11: 73,976,644 (GRCm39) N971S probably benign Het
Zfp827 A T 8: 79,844,821 (GRCm39) T664S probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- TGCACACGGTAGCAAAGGCATC -3'
(R):5'- AAGTGGCTGGGTTCTTGCAGAC -3'

Sequencing Primer
(F):5'- GCGATGGCTACTAAAGCATTC -3'
(R):5'- GTTCTTGCAGACCCCCAGAC -3'
Posted On 2013-11-08