Incidental Mutation 'IGL01824:Sys1'
ID154612
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sys1
Ensembl Gene ENSMUSG00000045503
Gene NameSYS1 Golgi-localized integral membrane protein homolog (S. cerevisiae)
Synonyms
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.637) question?
Stock #IGL01824
Quality Score
Status
Chromosome2
Chromosomal Location164456964-164479638 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 164463305 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Arginine at position 56 (L56R)
Ref Sequence ENSEMBL: ENSMUSP00000126658 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072452] [ENSMUST00000109352] [ENSMUST00000125086] [ENSMUST00000138268] [ENSMUST00000142892] [ENSMUST00000164863]
Predicted Effect probably damaging
Transcript: ENSMUST00000072452
AA Change: L56R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000072275
Gene: ENSMUSG00000045503
AA Change: L56R

DomainStartEndE-ValueType
Pfam:SYS1 5 148 4e-57 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000109352
AA Change: L56R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000104976
Gene: ENSMUSG00000045503
AA Change: L56R

DomainStartEndE-ValueType
Pfam:SYS1 5 148 9.2e-61 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122806
Predicted Effect probably damaging
Transcript: ENSMUST00000125086
AA Change: L56R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000121900
Gene: ENSMUSG00000045503
AA Change: L56R

DomainStartEndE-ValueType
Pfam:SYS1 5 148 9.2e-61 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000138268
AA Change: L56R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000117507
Gene: ENSMUSG00000045503
AA Change: L56R

DomainStartEndE-ValueType
Pfam:SYS1 5 76 1.4e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142347
Predicted Effect probably damaging
Transcript: ENSMUST00000142892
AA Change: L56R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114360
Gene: ENSMUSG00000045503
AA Change: L56R

DomainStartEndE-ValueType
Pfam:SYS1 5 76 1.4e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155250
Predicted Effect probably damaging
Transcript: ENSMUST00000164863
AA Change: L56R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126658
Gene: ENSMUSG00000090996
AA Change: L56R

DomainStartEndE-ValueType
Pfam:SYS1 5 78 6.7e-22 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SYS1 forms a complex with ADP-ribosylation factor-related protein ARFRP1 (MIM 604699) and targets ARFRP1 to the Golgi apparatus (Behnia et al., 2004 [PubMed 15077113]).[supplied by OMIM, Aug 2009]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd17c G A 7: 84,151,289 R186C probably benign Het
Ankar A G 1: 72,651,727 V1196A probably benign Het
Asah1 A T 8: 41,349,543 probably benign Het
Chrm1 T C 19: 8,679,130 W400R probably damaging Het
Cyp27a1 G T 1: 74,735,881 E290* probably null Het
Dnah7a T C 1: 53,504,270 D2247G probably benign Het
Gins4 G A 8: 23,234,768 Q57* probably null Het
Gli1 T C 10: 127,336,527 D219G probably benign Het
Greb1 A T 12: 16,711,716 C554* probably null Het
Gtf2ird2 T C 5: 134,197,282 probably benign Het
Ifna15 T C 4: 88,557,783 R155G probably benign Het
Lck T A 4: 129,558,146 M14L probably benign Het
Megf6 A G 4: 154,252,234 D322G probably damaging Het
Olfr1272 T A 2: 90,281,919 I219F probably damaging Het
Pcdh18 A T 3: 49,754,774 D697E probably damaging Het
Pnp C T 14: 50,951,413 T221I probably damaging Het
Ppl A G 16: 5,087,889 I1514T probably damaging Het
Scnn1g A G 7: 121,766,293 M523V probably benign Het
Sema4c A G 1: 36,553,029 Y246H possibly damaging Het
Slco1a5 T A 6: 142,253,037 I301F probably benign Het
Srebf1 A G 11: 60,204,131 S446P probably benign Het
Trpc7 G T 13: 56,789,722 Y585* probably null Het
Vmn2r110 T A 17: 20,574,667 Y580F probably benign Het
Zmym6 G T 4: 127,108,706 V485F probably damaging Het
Other mutations in Sys1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02637:Sys1 APN 2 164461392 missense possibly damaging 0.95
R4367:Sys1 UTSW 2 164461395 missense probably damaging 1.00
R4370:Sys1 UTSW 2 164461395 missense probably damaging 1.00
R4371:Sys1 UTSW 2 164461395 missense probably damaging 1.00
R4811:Sys1 UTSW 2 164464424 missense possibly damaging 0.92
R5558:Sys1 UTSW 2 164464509 missense possibly damaging 0.51
R6008:Sys1 UTSW 2 164464587 missense probably benign 0.26
R6498:Sys1 UTSW 2 164464518 missense probably benign 0.28
Posted On2014-02-04