Incidental Mutation 'IGL01824:Sys1'
ID 154612
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sys1
Ensembl Gene ENSMUSG00000045503
Gene Name SYS1 Golgi-localized integral membrane protein homolog (S. cerevisiae)
Synonyms 2610042O14Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.745) question?
Stock # IGL01824
Quality Score
Status
Chromosome 2
Chromosomal Location 164298884-164321558 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 164305225 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q78S06
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 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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155250
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: 83,800,497 (GRCm39) R186C probably benign Het
Ankar A G 1: 72,690,886 (GRCm39) V1196A probably benign Het
Asah1 A T 8: 41,802,580 (GRCm39) probably benign Het
Chrm1 T C 19: 8,656,494 (GRCm39) W400R probably damaging Het
Cyp27a1 G T 1: 74,775,040 (GRCm39) E290* probably null Het
Dnah7a T C 1: 53,543,429 (GRCm39) D2247G probably benign Het
Gins4 G A 8: 23,724,784 (GRCm39) Q57* probably null Het
Gli1 T C 10: 127,172,396 (GRCm39) D219G probably benign Het
Greb1 A T 12: 16,761,717 (GRCm39) C554* probably null Het
Gtf2ird2 T C 5: 134,226,123 (GRCm39) probably benign Het
Ifna15 T C 4: 88,476,020 (GRCm39) R155G probably benign Het
Lck T A 4: 129,451,939 (GRCm39) M14L probably benign Het
Megf6 A G 4: 154,336,691 (GRCm39) D322G probably damaging Het
Or4b1b T A 2: 90,112,263 (GRCm39) I219F probably damaging Het
Pcdh18 A T 3: 49,709,223 (GRCm39) D697E probably damaging Het
Pnp C T 14: 51,188,870 (GRCm39) T221I probably damaging Het
Ppl A G 16: 4,905,753 (GRCm39) I1514T probably damaging Het
Scnn1g A G 7: 121,365,516 (GRCm39) M523V probably benign Het
Sema4c A G 1: 36,592,110 (GRCm39) Y246H possibly damaging Het
Slco1a5 T A 6: 142,198,763 (GRCm39) I301F probably benign Het
Srebf1 A G 11: 60,094,957 (GRCm39) S446P probably benign Het
Trpc7 G T 13: 56,937,535 (GRCm39) Y585* probably null Het
Vmn2r110 T A 17: 20,794,929 (GRCm39) Y580F probably benign Het
Zmym6 G T 4: 127,002,499 (GRCm39) V485F probably damaging Het
Other mutations in Sys1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02637:Sys1 APN 2 164,303,312 (GRCm39) missense possibly damaging 0.95
R4367:Sys1 UTSW 2 164,303,315 (GRCm39) missense probably damaging 1.00
R4370:Sys1 UTSW 2 164,303,315 (GRCm39) missense probably damaging 1.00
R4371:Sys1 UTSW 2 164,303,315 (GRCm39) missense probably damaging 1.00
R4811:Sys1 UTSW 2 164,306,344 (GRCm39) missense possibly damaging 0.92
R5558:Sys1 UTSW 2 164,306,429 (GRCm39) missense possibly damaging 0.51
R6008:Sys1 UTSW 2 164,306,507 (GRCm39) missense probably benign 0.26
R6498:Sys1 UTSW 2 164,306,438 (GRCm39) missense probably benign 0.28
Posted On 2014-02-04