Incidental Mutation 'IGL02098:Syde1'
ID279673
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Syde1
Ensembl Gene ENSMUSG00000032714
Gene Namesynapse defective 1, Rho GTPase, homolog 1 (C. elegans)
Synonyms1200008N06Rik, mSYD1A
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02098
Quality Score
Status
Chromosome10
Chromosomal Location78584503-78591964 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 78589371 bp
ZygosityHeterozygous
Amino Acid Change Serine to Glycine at position 269 (S269G)
Ref Sequence ENSEMBL: ENSMUSP00000043085 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040580] [ENSMUST00000105384] [ENSMUST00000218215] [ENSMUST00000218875] [ENSMUST00000218885]
Predicted Effect probably damaging
Transcript: ENSMUST00000040580
AA Change: S269G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000043085
Gene: ENSMUSG00000032714
AA Change: S269G

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 probably benign
Transcript: ENSMUST00000105384
SMART Domains Protein: ENSMUSP00000101023
Gene: ENSMUSG00000032763

DomainStartEndE-ValueType
transmembrane domain 12 34 N/A INTRINSIC
Pfam:TPP_enzyme_N 52 220 1.4e-53 PFAM
Pfam:TPP_enzyme_M 273 405 2.1e-16 PFAM
Pfam:TPP_enzyme_C 467 618 3.1e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000218215
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218641
Predicted Effect probably benign
Transcript: ENSMUST00000218875
Predicted Effect probably benign
Transcript: ENSMUST00000218885
Predicted Effect probably benign
Transcript: ENSMUST00000219588
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219971
Coding Region Coverage
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam25 C T 8: 40,755,643 P649S probably benign Het
Ano3 T A 2: 110,666,441 R788* probably null Het
Ccdc18 A G 5: 108,202,111 E1043G probably damaging Het
Chd3 A T 11: 69,359,829 H691Q probably damaging Het
Cts7 G T 13: 61,356,529 F73L probably damaging Het
Cyp2c66 A G 19: 39,171,029 Y308C probably damaging Het
Eef1a2 G T 2: 181,152,789 P206T probably benign Het
Gcsh G T 8: 116,989,136 S69R probably damaging Het
Gm13023 T A 4: 143,793,678 probably null Het
Gm9989 T A 3: 81,922,221 noncoding transcript Het
Igkv6-25 C T 6: 70,215,735 T42I probably damaging Het
Iqca T C 1: 90,047,941 Y684C probably damaging Het
Kif6 G A 17: 49,870,894 G602D probably benign Het
Klb C A 5: 65,379,885 R853S probably benign Het
Mad1l1 A C 5: 140,310,589 probably benign Het
Magi1 T C 6: 93,678,787 N1077D probably damaging Het
Med12l T A 3: 59,275,855 S1858T possibly damaging Het
Ncapg2 A G 12: 116,444,332 E984G possibly damaging Het
Necab1 T A 4: 14,955,892 probably benign Het
Nexn G A 3: 152,243,903 R253* probably null Het
Npc1l1 A G 11: 6,214,581 L1156P probably damaging Het
Olfr1385 T A 11: 49,495,397 I288N probably damaging Het
Olfr1451 A G 19: 12,999,573 I196V probably benign Het
Olfr146 A G 9: 39,018,891 S217P probably damaging Het
Olfr194 A T 16: 59,120,070 probably benign Het
Rassf7 T C 7: 141,218,290 S381P possibly damaging Het
Rdh7 G T 10: 127,884,738 T255K probably benign Het
Scn10a T A 9: 119,691,478 I119F possibly damaging Het
Slc15a3 T A 19: 10,848,678 F244L probably damaging Het
Teddm2 C T 1: 153,850,335 probably benign Het
Tenm3 T C 8: 48,276,576 D1465G possibly damaging Het
Zkscan2 A T 7: 123,499,841 S43T probably benign Het
Other mutations in Syde1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00229:Syde1 APN 10 78585809 missense probably damaging 1.00
IGL01285:Syde1 APN 10 78588887 missense probably damaging 1.00
IGL01529:Syde1 APN 10 78590181 missense probably benign
IGL01869:Syde1 APN 10 78588919 missense possibly damaging 0.93
IGL03187:Syde1 APN 10 78589109 missense possibly damaging 0.79
R0014:Syde1 UTSW 10 78590034 missense probably benign
R0561:Syde1 UTSW 10 78589376 missense probably damaging 1.00
R0605:Syde1 UTSW 10 78589095 unclassified probably benign
R1713:Syde1 UTSW 10 78585696 missense probably damaging 1.00
R1756:Syde1 UTSW 10 78586980 missense probably benign
R4491:Syde1 UTSW 10 78590228 missense probably benign 0.00
R4846:Syde1 UTSW 10 78588897 missense probably damaging 0.99
R5092:Syde1 UTSW 10 78589418 missense probably benign
R5287:Syde1 UTSW 10 78590037 missense probably benign
R5611:Syde1 UTSW 10 78585891 missense probably benign
R5951:Syde1 UTSW 10 78589316 missense possibly damaging 0.87
R5957:Syde1 UTSW 10 78590117 missense probably damaging 1.00
R6169:Syde1 UTSW 10 78586104 missense probably damaging 1.00
R7083:Syde1 UTSW 10 78587069 missense probably benign 0.44
R7150:Syde1 UTSW 10 78586198 nonsense probably null
R7239:Syde1 UTSW 10 78588781 missense probably damaging 1.00
R7799:Syde1 UTSW 10 78589907 missense probably benign
Posted On2015-04-16