Incidental Mutation 'PIT4354001:Isy1'
ID554818
Institutional Source Beutler Lab
Gene Symbol Isy1
Ensembl Gene ENSMUSG00000030056
Gene NameISY1 splicing factor homolog
Synonyms5830446M03Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.179) question?
Stock #PIT4354001 (G1)
Quality Score225.009
Status Not validated
Chromosome6
Chromosomal Location87814269-87838798 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 87833671 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 53 (I53T)
Ref Sequence ENSEMBL: ENSMUSP00000086923 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089497] [ENSMUST00000204419] [ENSMUST00000204431] [ENSMUST00000204881] [ENSMUST00000205070]
PDB Structure
Solution structure of Isy1 domain in hypothetical protein [SOLUTION NMR]
Predicted Effect possibly damaging
Transcript: ENSMUST00000089497
AA Change: I53T

PolyPhen 2 Score 0.677 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000086923
Gene: ENSMUSG00000030056
AA Change: I53T

DomainStartEndE-ValueType
Pfam:Isy1 1 266 5.1e-101 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000204419
AA Change: I45T

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000144743
Gene: ENSMUSG00000107928
AA Change: I45T

DomainStartEndE-ValueType
Pfam:Isy1 1 218 1.8e-83 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000204431
AA Change: I67T

PolyPhen 2 Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000145001
Gene: ENSMUSG00000030056
AA Change: I67T

DomainStartEndE-ValueType
Pfam:Isy1 1 57 2.4e-17 PFAM
Pfam:Isy1 50 95 2.7e-15 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000204881
AA Change: I53T

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000144710
Gene: ENSMUSG00000030056
AA Change: I53T

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
Coding Region Coverage
  • 1x: 92.5%
  • 3x: 90.1%
  • 10x: 83.2%
  • 20x: 69.0%
Validation Efficiency
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arap2 A T 5: 62,654,049 Y1140N probably damaging Het
Ccdc83 A T 7: 90,223,974 M391K probably benign Het
Cntnap1 A T 11: 101,181,297 I459F probably damaging Het
Cr2 T A 1: 195,166,309 Y302F probably damaging Het
Ctu2 A T 8: 122,478,975 D179V probably damaging Het
Cubn G A 2: 13,468,852 Q427* probably null Het
Depdc7 A G 2: 104,728,188 S163P probably benign Het
Eif2s3y C T Y: 1,020,126 R385C probably benign Het
Gigyf1 A G 5: 137,524,104 K728R unknown Het
Gm1587 G A 14: 77,797,033 R32* probably null Het
Gm17689 T A 9: 36,581,301 S103C possibly damaging Het
Hfe2 T C 3: 96,528,445 C340R probably damaging Het
Myh8 A T 11: 67,289,630 N564I probably benign Het
Neb A T 2: 52,245,318 I3260N probably damaging Het
Npc1 C T 18: 12,211,535 G426E probably benign Het
Nrd1 G A 4: 109,054,025 probably null Het
Olfr1221 C A 2: 89,112,486 E9* probably null Het
Olfr1257 T A 2: 89,881,508 S227R probably benign Het
Olfr56 G A 11: 49,134,305 V38M probably damaging Het
Prss51 T A 14: 64,097,097 V91D probably damaging Het
Qpct A C 17: 79,081,759 Y280S probably benign Het
Rbpms A G 8: 33,806,838 V137A possibly damaging Het
Rgl2 T A 17: 33,933,940 M441K possibly damaging Het
Sdhaf3 A T 6: 6,956,072 I16F possibly damaging Het
Slc38a3 T G 9: 107,657,649 N176H probably benign Het
Sos1 T C 17: 80,449,356 S256G possibly damaging Het
Spg11 A T 2: 122,088,185 C988S probably damaging Het
Sync A T 4: 129,306,654 Q451L possibly damaging Het
Tbc1d31 A G 15: 57,967,933 Y929C probably benign Het
Thbs2 G A 17: 14,689,968 T123I probably damaging Het
Thsd7a A C 6: 12,331,927 probably null Het
Tnfrsf11a T C 1: 105,821,517 L220P probably damaging Het
Trbv13-2 G A 6: 41,121,818 C109Y probably damaging Het
Ugt3a1 G A 15: 9,306,360 W198* probably null Het
Usp14 G A 18: 9,996,189 R464W probably damaging Het
Vmn1r2 C T 4: 3,172,162 S27L probably benign Het
Vmn1r68 T A 7: 10,528,031 N47Y probably benign Het
Zfc3h1 T A 10: 115,427,039 Y1719* probably null Het
Other mutations in Isy1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0105:Isy1 UTSW 6 87819185 missense probably damaging 1.00
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
Predicted Primers PCR Primer
(F):5'- TTCCTGACCCTGGGATCG -3'
(R):5'- AATAATGGCTCTGCTTGCTTCTT -3'

Sequencing Primer
(F):5'- CTGGGATCGCACGCACC -3'
(R):5'- CCTGGAACTCACTTTGTAGACTAGG -3'
Posted On2019-06-07