Incidental Mutation 'R6498:Sys1'
ID 523092
Institutional Source Beutler Lab
Gene Symbol Sys1
Ensembl Gene ENSMUSG00000045503
Gene Name SYS1 Golgi-localized integral membrane protein homolog (S. cerevisiae)
Synonyms 2610042O14Rik
MMRRC Submission 044630-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.752) question?
Stock # R6498 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 164298884-164321558 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 164306438 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 131 (A131T)
Ref Sequence ENSEMBL: ENSMUSP00000121900 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072452] [ENSMUST00000109352] [ENSMUST00000125086] [ENSMUST00000138268] [ENSMUST00000142892] [ENSMUST00000164863]
AlphaFold Q78S06
Predicted Effect probably benign
Transcript: ENSMUST00000072452
AA Change: A131T

PolyPhen 2 Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000072275
Gene: ENSMUSG00000045503
AA Change: A131T

DomainStartEndE-ValueType
Pfam:SYS1 5 148 4e-57 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109352
AA Change: A131T

PolyPhen 2 Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000104976
Gene: ENSMUSG00000045503
AA Change: A131T

DomainStartEndE-ValueType
Pfam:SYS1 5 148 9.2e-61 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122806
Predicted Effect probably benign
Transcript: ENSMUST00000125086
AA Change: A131T

PolyPhen 2 Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000121900
Gene: ENSMUSG00000045503
AA Change: A131T

DomainStartEndE-ValueType
Pfam:SYS1 5 148 9.2e-61 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000138268
SMART Domains Protein: ENSMUSP00000117507
Gene: ENSMUSG00000045503

DomainStartEndE-ValueType
Pfam:SYS1 5 76 1.4e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142347
Predicted Effect probably benign
Transcript: ENSMUST00000142892
SMART Domains Protein: ENSMUSP00000114360
Gene: ENSMUSG00000045503

DomainStartEndE-ValueType
Pfam:SYS1 5 76 1.4e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155250
Predicted Effect probably benign
Transcript: ENSMUST00000164863
SMART Domains Protein: ENSMUSP00000126658
Gene: ENSMUSG00000090996

DomainStartEndE-ValueType
Pfam:SYS1 5 78 6.7e-22 PFAM
Meta Mutation Damage Score 0.0829 question?
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.4%
  • 10x: 96.9%
  • 20x: 89.8%
Validation Efficiency 100% (37/37)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 T G 11: 110,182,928 (GRCm39) N1043T possibly damaging Het
Actn2 C T 13: 12,291,359 (GRCm39) E682K probably damaging Het
Agtpbp1 A G 13: 59,624,854 (GRCm39) V833A possibly damaging Het
Arrb2 G T 11: 70,330,375 (GRCm39) R333L probably benign Het
Atp9b C T 18: 80,820,230 (GRCm39) S135N probably benign Het
Cep112 T A 11: 108,331,357 (GRCm39) S135R probably benign Het
D630045J12Rik G A 6: 38,124,132 (GRCm39) R1607* probably null Het
Duox1 A T 2: 122,150,088 (GRCm39) S160C probably damaging Het
Eogt A T 6: 97,112,174 (GRCm39) Y160N probably damaging Het
Exosc10 T C 4: 148,657,795 (GRCm39) V647A probably benign Het
Fbxo44 C T 4: 148,238,882 (GRCm39) Het
Fen1 G T 19: 10,177,479 (GRCm39) R322S probably damaging Het
Gls A C 1: 52,259,198 (GRCm39) N134K probably benign Het
Hspg2 T C 4: 137,235,112 (GRCm39) V82A possibly damaging Het
Il33 G A 19: 29,927,137 (GRCm39) E23K probably benign Het
Macroh2a2 C A 10: 61,593,614 (GRCm39) V21F probably damaging Het
Map2k5 C A 9: 63,193,683 (GRCm39) A266S possibly damaging Het
Or13g1 T C 7: 85,956,226 (GRCm39) I32V probably benign Het
Or2t29 T A 11: 58,433,408 (GRCm39) N298I probably damaging Het
Or5p61 C T 7: 107,758,639 (GRCm39) C147Y probably benign Het
Pcdh1 G A 18: 38,330,490 (GRCm39) P838S probably benign Het
Pcdha5 A G 18: 37,095,768 (GRCm39) E759G possibly damaging Het
Pclo T C 5: 14,719,505 (GRCm39) I1214T unknown Het
Per3 T C 4: 151,113,662 (GRCm39) I299V probably benign Het
Pls1 A G 9: 95,636,798 (GRCm39) I558T probably damaging Het
Synpo2 A T 3: 122,873,881 (GRCm39) probably null Het
Tekt2 A G 4: 126,218,098 (GRCm39) L138P probably benign Het
Tmprss12 T A 15: 100,183,133 (GRCm39) N158K probably damaging Het
Tnrc18 A T 5: 142,717,923 (GRCm39) M2177K unknown Het
Trim43a T A 9: 88,464,395 (GRCm39) I102N probably damaging Het
Ugt1a10 C A 1: 88,143,862 (GRCm39) H361N probably damaging Het
Utrn C T 10: 12,317,837 (GRCm39) C498Y probably benign Het
Vmn1r39 A T 6: 66,781,841 (GRCm39) V159D probably damaging Het
Vmn1r44 A G 6: 89,870,562 (GRCm39) T103A probably benign Het
Wsb1 A T 11: 79,139,315 (GRCm39) V127D probably damaging Het
Zfp268 T A 4: 145,349,459 (GRCm39) C299S probably damaging Het
Other mutations in Sys1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01824:Sys1 APN 2 164,305,225 (GRCm39) missense probably damaging 1.00
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
Predicted Primers PCR Primer
(F):5'- CTGATGTAAGGCCAGGACAACC -3'
(R):5'- ACATTTCCAGGGTTCTGCTC -3'

Sequencing Primer
(F):5'- AGTGACAACTCGCTGCTATC -3'
(R):5'- CCAGGGTTCTGCTCAGACTTG -3'
Posted On 2018-06-06