Incidental Mutation 'R5957:Syde1'
ID 471232
Institutional Source Beutler Lab
Gene Symbol Syde1
Ensembl Gene ENSMUSG00000032714
Gene Name synapse defective 1, Rho GTPase, homolog 1 (C. elegans)
Synonyms 1200008N06Rik, mSYD1A
MMRRC Submission 043246-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5957 (G1)
Quality Score 204
Status Not validated
Chromosome 10
Chromosomal Location 78420337-78427798 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 78425951 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 72 (Y72C)
Ref Sequence ENSEMBL: ENSMUSP00000043085 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040580]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000040580
AA Change: Y72C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043085
Gene: ENSMUSG00000032714
AA Change: Y72C

DomainStartEndE-ValueType
low complexity region 37 45 N/A INTRINSIC
low complexity region 56 69 N/A INTRINSIC
low complexity region 114 127 N/A INTRINSIC
low complexity region 147 160 N/A INTRINSIC
low complexity region 176 191 N/A INTRINSIC
low complexity region 321 335 N/A INTRINSIC
RhoGAP 411 601 1.49e-56 SMART
low complexity region 638 652 N/A INTRINSIC
low complexity region 681 694 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218641
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a Rho GTPase-activating protein highly expressed in placenta. The encoded protein is involved in cytoskeletal remodeling and trophoblast cell migration. Decreased expression of this gene has been associated with intrauterine growth restriction (IUGR). [provided by RefSeq, Feb 2017]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced miniature excitatory postsynaptic current freuqency and docked vesciles in CA1 synpases. Mice homozygous for another allele exhibit reduced embryos and placental weight with abnormal placenta morphology and placental vasculature. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,775,922 (GRCm39) T1704A probably benign Het
Adgrg7 T A 16: 56,593,790 (GRCm39) N142I probably damaging Het
Aldh18a1 A T 19: 40,558,981 (GRCm39) Y286* probably null Het
Arpp21 T C 9: 112,014,754 (GRCm39) T17A probably benign Het
Bnip2 T C 9: 69,906,520 (GRCm39) I147T probably damaging Het
Ccr8 T C 9: 119,922,893 (GRCm39) Y3H probably damaging Het
Cenps C A 4: 149,214,658 (GRCm39) probably benign Het
Cul7 G A 17: 46,968,683 (GRCm39) G553S probably damaging Het
Cyp21a1 A G 17: 35,022,150 (GRCm39) I206T probably benign Het
Dennd4b A G 3: 90,178,272 (GRCm39) D488G probably damaging Het
Dip2b T C 15: 100,107,575 (GRCm39) L1195P probably benign Het
Dmac2l T C 12: 69,790,558 (GRCm39) V185A probably benign Het
Dock5 T A 14: 68,095,443 (GRCm39) H77L probably benign Het
Fbxw13 C T 9: 109,021,734 (GRCm39) probably null Het
Fmnl3 G A 15: 99,223,791 (GRCm39) R302W probably damaging Het
Gbf1 G T 19: 46,234,660 (GRCm39) probably null Het
Gm4846 T C 1: 166,314,522 (GRCm39) I374V probably benign Het
Gsk3b C A 16: 38,014,315 (GRCm39) P258T probably damaging Het
Igsf5 T C 16: 96,165,249 (GRCm39) V8A probably benign Het
Il22 T A 10: 118,041,071 (GRCm39) L59Q probably damaging Het
Ildr1 T C 16: 36,545,896 (GRCm39) *517Q probably null Het
Iqca1 T A 1: 90,008,670 (GRCm39) D450V probably damaging Het
Itga5 T C 15: 103,259,856 (GRCm39) D647G probably benign Het
Myh7 T G 14: 55,226,535 (GRCm39) N408T probably damaging Het
Mylk3 T C 8: 86,055,266 (GRCm39) M564V probably damaging Het
Nsd2 T A 5: 34,012,947 (GRCm39) M407K probably damaging Het
Odad2 T C 18: 7,285,706 (GRCm39) E219G probably benign Het
Oprd1 C T 4: 131,871,474 (GRCm39) V75I probably benign Het
Poli G A 18: 70,650,511 (GRCm39) H310Y probably benign Het
Pramel19 T C 4: 101,798,898 (GRCm39) F290L probably benign Het
Ptch1 C T 13: 63,672,929 (GRCm39) R755H probably damaging Het
Pygl A T 12: 70,246,494 (GRCm39) M351K probably damaging Het
Serpinb9b T C 13: 33,223,831 (GRCm39) L341P possibly damaging Het
Slc47a1 A G 11: 61,235,168 (GRCm39) V555A probably benign Het
Slc8a2 C A 7: 15,879,209 (GRCm39) T565K possibly damaging Het
Snx14 T C 9: 88,285,327 (GRCm39) I446V possibly damaging Het
Trim37 C T 11: 87,036,377 (GRCm39) R138C probably damaging Het
Tubgcp5 T A 7: 55,464,710 (GRCm39) S530R probably benign Het
Vps13c T C 9: 67,862,253 (GRCm39) S2957P probably damaging Het
Wdr41 T C 13: 95,133,695 (GRCm39) probably null Het
Zyg11b T C 4: 108,102,210 (GRCm39) K504E probably damaging Het
Other mutations in Syde1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00229:Syde1 APN 10 78,421,643 (GRCm39) missense probably damaging 1.00
IGL01285:Syde1 APN 10 78,424,721 (GRCm39) missense probably damaging 1.00
IGL01529:Syde1 APN 10 78,426,015 (GRCm39) missense probably benign
IGL01869:Syde1 APN 10 78,424,753 (GRCm39) missense possibly damaging 0.93
IGL02098:Syde1 APN 10 78,425,205 (GRCm39) missense probably damaging 1.00
IGL03187:Syde1 APN 10 78,424,943 (GRCm39) missense possibly damaging 0.79
R0014:Syde1 UTSW 10 78,425,868 (GRCm39) missense probably benign
R0561:Syde1 UTSW 10 78,425,210 (GRCm39) missense probably damaging 1.00
R0605:Syde1 UTSW 10 78,424,929 (GRCm39) unclassified probably benign
R1713:Syde1 UTSW 10 78,421,530 (GRCm39) missense probably damaging 1.00
R1756:Syde1 UTSW 10 78,422,814 (GRCm39) missense probably benign
R4491:Syde1 UTSW 10 78,426,062 (GRCm39) missense probably benign 0.00
R4846:Syde1 UTSW 10 78,424,731 (GRCm39) missense probably damaging 0.99
R5092:Syde1 UTSW 10 78,425,252 (GRCm39) missense probably benign
R5287:Syde1 UTSW 10 78,425,871 (GRCm39) missense probably benign
R5611:Syde1 UTSW 10 78,421,725 (GRCm39) missense probably benign
R5951:Syde1 UTSW 10 78,425,150 (GRCm39) missense possibly damaging 0.87
R6169:Syde1 UTSW 10 78,421,938 (GRCm39) missense probably damaging 1.00
R7083:Syde1 UTSW 10 78,422,903 (GRCm39) missense probably benign 0.44
R7150:Syde1 UTSW 10 78,422,032 (GRCm39) nonsense probably null
R7239:Syde1 UTSW 10 78,424,615 (GRCm39) missense probably damaging 1.00
R7799:Syde1 UTSW 10 78,425,741 (GRCm39) missense probably benign
R7947:Syde1 UTSW 10 78,425,916 (GRCm39) missense probably damaging 1.00
R8876:Syde1 UTSW 10 78,425,325 (GRCm39) missense probably damaging 1.00
R8946:Syde1 UTSW 10 78,424,683 (GRCm39) missense probably damaging 0.99
R9104:Syde1 UTSW 10 78,421,670 (GRCm39) missense probably benign 0.01
R9132:Syde1 UTSW 10 78,425,340 (GRCm39) missense probably benign
R9703:Syde1 UTSW 10 78,421,557 (GRCm39) missense probably damaging 1.00
R9728:Syde1 UTSW 10 78,424,638 (GRCm39) frame shift probably null
Z1176:Syde1 UTSW 10 78,421,965 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- CTTCTGGCTCAGAGGAAGCTAG -3'
(R):5'- CCAATTAGCTAGACTGCCTCC -3'

Sequencing Primer
(F):5'- CTCAGAGGAAGCTAGCTGTGATCC -3'
(R):5'- CCTGGACCTCTGGGAACTTGAG -3'
Posted On 2017-03-31