Incidental Mutation 'R4367:Sys1'
ID 325787
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 041673-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.745) question?
Stock # R4367 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 164298884-164321558 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 164303315 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 10 (W10R)
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: W10R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000072275
Gene: ENSMUSG00000045503
AA Change: W10R

DomainStartEndE-ValueType
Pfam:SYS1 5 148 4e-57 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000109352
AA Change: W10R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104976
Gene: ENSMUSG00000045503
AA Change: W10R

DomainStartEndE-ValueType
Pfam:SYS1 5 148 9.2e-61 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122806
Predicted Effect probably damaging
Transcript: ENSMUST00000125086
AA Change: W10R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121900
Gene: ENSMUSG00000045503
AA Change: W10R

DomainStartEndE-ValueType
Pfam:SYS1 5 148 9.2e-61 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000138268
AA Change: W10R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117507
Gene: ENSMUSG00000045503
AA Change: W10R

DomainStartEndE-ValueType
Pfam:SYS1 5 76 1.4e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142347
Predicted Effect probably damaging
Transcript: ENSMUST00000142892
AA Change: W10R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114360
Gene: ENSMUSG00000045503
AA Change: W10R

DomainStartEndE-ValueType
Pfam:SYS1 5 76 1.4e-22 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000164863
AA Change: W10R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126658
Gene: ENSMUSG00000090996
AA Change: W10R

DomainStartEndE-ValueType
Pfam:SYS1 5 78 6.7e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155250
Meta Mutation Damage Score 0.9076 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency 98% (54/55)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adrb2 T C 18: 62,312,127 (GRCm39) I233V probably damaging Het
Alox5 T A 6: 116,437,924 (GRCm39) Y21F possibly damaging Het
Ank2 T C 3: 126,739,798 (GRCm39) T1942A probably benign Het
Aoc1l1 T C 6: 48,953,064 (GRCm39) S330P probably damaging Het
B4galt3 C A 1: 171,101,613 (GRCm39) H196N probably damaging Het
Bckdk C T 7: 127,505,591 (GRCm39) A238V probably benign Het
Casp1 A G 9: 5,299,333 (GRCm39) T21A probably benign Het
Ccdc39 T C 3: 33,880,671 (GRCm39) H432R probably benign Het
Cttnbp2 A C 6: 18,405,248 (GRCm39) C574G probably damaging Het
Cyp1a1 T C 9: 57,607,432 (GRCm39) V20A probably benign Het
Dhx38 C T 8: 110,279,763 (GRCm39) V976I probably damaging Het
Dnah6 A G 6: 73,126,467 (GRCm39) S1287P possibly damaging Het
Dnttip2 T C 3: 122,070,146 (GRCm39) S454P probably damaging Het
Drp2 A T X: 133,335,884 (GRCm39) probably benign Het
Flcn C T 11: 59,694,610 (GRCm39) V121I possibly damaging Het
Fmo1 G C 1: 162,661,217 (GRCm39) Y355* probably null Het
Git2 T A 5: 114,902,727 (GRCm39) H138L probably damaging Het
Gpr162 G A 6: 124,838,658 (GRCm39) probably benign Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Kcnt1 T C 2: 25,797,638 (GRCm39) I881T probably damaging Het
Lama3 T A 18: 12,646,747 (GRCm39) C1754S probably damaging Het
Mpp3 A T 11: 101,914,246 (GRCm39) D116E probably benign Het
Myh11 T C 16: 14,036,747 (GRCm39) D985G probably damaging Het
Necap1 T C 6: 122,864,337 (GRCm39) V273A probably damaging Het
Nlrc5 T C 8: 95,203,192 (GRCm39) S431P probably damaging Het
Nutm2 A T 13: 50,623,920 (GRCm39) T206S probably benign Het
Or2d3 GAACAACAACAA GAACAACAA 7: 106,490,567 (GRCm39) probably benign Het
Or5p79 C T 7: 108,221,096 (GRCm39) L26F probably benign Het
Or8g19 G A 9: 39,055,725 (GRCm39) A110T probably damaging Het
Phactr2 A G 10: 13,129,564 (GRCm39) S235P probably damaging Het
Podnl1 G A 8: 84,853,897 (GRCm39) R89H probably benign Het
Prpf38b T C 3: 108,818,487 (GRCm39) Y91C probably damaging Het
Radil C T 5: 142,480,560 (GRCm39) A632T probably benign Het
Rpap2 G A 5: 107,749,661 (GRCm39) V62I possibly damaging Het
Sdf2 C T 11: 78,141,863 (GRCm39) T66I probably damaging Het
Specc1 T C 11: 62,009,356 (GRCm39) S371P probably damaging Het
Suco T C 1: 161,674,799 (GRCm39) E416G probably damaging Het
Tars3 C T 7: 65,332,567 (GRCm39) T556M probably damaging Het
Tcirg1 C T 19: 3,949,069 (GRCm39) D407N probably damaging Het
Tefm G T 11: 80,031,156 (GRCm39) L27I probably benign Het
Tenm2 A G 11: 35,918,225 (GRCm39) I1845T probably benign Het
Tfam A T 10: 71,069,233 (GRCm39) I119N probably damaging Het
Tle1 ACAGGTTTCTTCAGGTTTCTT ACAGGTTTCTT 4: 72,036,400 (GRCm39) probably benign Het
Trpm6 T C 19: 18,804,889 (GRCm39) I947T probably damaging Het
Ubqlnl C T 7: 103,798,925 (GRCm39) V191M probably benign Het
Usp54 T C 14: 20,611,202 (GRCm39) T1205A probably benign Het
Vmn2r25 T C 6: 123,805,496 (GRCm39) R454G probably damaging Het
Xylb T C 9: 119,217,781 (GRCm39) V477A probably benign 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
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
Predicted Primers PCR Primer
(F):5'- TCCATGGTCCTGTCTGTCAG -3'
(R):5'- AAATGAGAACTTGGCCCAGC -3'

Sequencing Primer
(F):5'- TCAGCGCTGTGTCAGGAG -3'
(R):5'- AGCCGGATTTAGAGCTCGG -3'
Posted On 2015-07-06