Incidental Mutation 'IGL01624:Syde2'
ID92651
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Syde2
Ensembl Gene ENSMUSG00000036863
Gene Namesynapse defective 1, Rho GTPase, homolog 2 (C. elegans)
SynonymsC430017H16Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.125) question?
Stock #IGL01624
Quality Score
Status
Chromosome3
Chromosomal Location145987870-146021720 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 146007035 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Serine at position 709 (L709S)
Ref Sequence ENSEMBL: ENSMUSP00000148542 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039517] [ENSMUST00000200546] [ENSMUST00000212479]
Predicted Effect probably damaging
Transcript: ENSMUST00000039517
AA Change: L976S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000041897
Gene: ENSMUSG00000036863
AA Change: L976S

DomainStartEndE-ValueType
low complexity region 65 98 N/A INTRINSIC
low complexity region 116 128 N/A INTRINSIC
low complexity region 164 185 N/A INTRINSIC
low complexity region 197 221 N/A INTRINSIC
low complexity region 623 636 N/A INTRINSIC
C2 802 902 1.1e0 SMART
RhoGAP 950 1149 1.23e-57 SMART
Blast:RhoGAP 1151 1299 2e-50 BLAST
low complexity region 1300 1311 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000200546
AA Change: L708S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142954
Gene: ENSMUSG00000036863
AA Change: L708S

DomainStartEndE-ValueType
low complexity region 355 368 N/A INTRINSIC
C2 534 634 7.2e-3 SMART
RhoGAP 682 881 7.3e-60 SMART
Blast:RhoGAP 883 1031 2e-50 BLAST
low complexity region 1032 1043 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000212479
AA Change: L709S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik C T 13: 77,193,086 T18I probably damaging Het
Acod1 A G 14: 103,055,233 T398A probably benign Het
Adgrl2 A G 3: 148,836,527 V853A probably damaging Het
Ankhd1 T C 18: 36,658,013 S2488P probably damaging Het
Ankrd28 T C 14: 31,710,857 I578V probably benign Het
Atp2c2 A C 8: 119,757,450 R933S probably benign Het
Cyp26a1 A T 19: 37,698,333 I78F possibly damaging Het
Gck A G 11: 5,903,106 V338A possibly damaging Het
Ints6 A T 14: 62,696,871 M729K probably benign Het
Kank2 C A 9: 21,780,380 G500W probably damaging Het
Kansl1 G A 11: 104,424,552 T220I probably benign Het
Lgi4 T C 7: 31,067,688 L380P probably damaging Het
Lhx9 G T 1: 138,832,783 Y276* probably null Het
Lipm T A 19: 34,121,145 Y340N probably damaging Het
Mlxip A G 5: 123,395,329 T134A probably benign Het
Nwd2 A T 5: 63,806,810 I1246F probably damaging Het
Olfr1099 A G 2: 86,959,230 V76A probably benign Het
Olfr114 A T 17: 37,589,925 W143R probably benign Het
Olfr822 T A 10: 130,074,650 L80H probably damaging Het
Rbm44 T A 1: 91,156,658 N601K probably damaging Het
Rgs4 T A 1: 169,744,478 Y84F probably benign Het
Scn7a T C 2: 66,751,925 T131A probably benign Het
Slc17a2 A G 13: 23,814,986 I121V probably benign Het
Slitrk5 T A 14: 111,681,094 Y717N probably damaging Het
Sox6 A G 7: 115,476,968 S770P probably damaging Het
Spata31 T C 13: 64,921,585 W516R probably damaging Het
Sugt1 A G 14: 79,596,790 N77S probably benign Het
Sumf1 C T 6: 108,153,201 D186N probably damaging Het
Tcp1 T A 17: 12,919,925 I163K probably benign Het
Upf2 A T 2: 6,034,179 E287D probably benign Het
Usp17lb A G 7: 104,842,513 probably benign Het
Vmn2r10 G A 5: 109,006,246 S64F possibly damaging Het
Other mutations in Syde2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00331:Syde2 APN 3 146014341 missense possibly damaging 0.76
IGL02059:Syde2 APN 3 146002172 missense possibly damaging 0.77
IGL02195:Syde2 APN 3 146002156 missense probably damaging 1.00
IGL02498:Syde2 APN 3 145998689 missense probably benign 0.08
IGL02609:Syde2 APN 3 145998520 missense probably benign 0.00
IGL02721:Syde2 APN 3 146002004 missense probably damaging 1.00
IGL02932:Syde2 APN 3 146001476 missense possibly damaging 0.79
IGL02957:Syde2 APN 3 145989179 splice site probably benign
R0062:Syde2 UTSW 3 145998753 missense probably benign 0.00
R0062:Syde2 UTSW 3 145998753 missense probably benign 0.00
R0413:Syde2 UTSW 3 146007132 missense probably damaging 1.00
R0505:Syde2 UTSW 3 146014380 missense possibly damaging 0.85
R0535:Syde2 UTSW 3 145989170 critical splice donor site probably null
R0646:Syde2 UTSW 3 146014249 splice site probably null
R1535:Syde2 UTSW 3 146002421 splice site probably benign
R1914:Syde2 UTSW 3 146014316 nonsense probably null
R1915:Syde2 UTSW 3 146014316 nonsense probably null
R1997:Syde2 UTSW 3 145998991 missense probably benign 0.08
R2012:Syde2 UTSW 3 145988408 missense possibly damaging 0.88
R2112:Syde2 UTSW 3 145998486 missense possibly damaging 0.52
R2220:Syde2 UTSW 3 146001958 missense probably benign 0.07
R2990:Syde2 UTSW 3 146001497 missense probably damaging 0.97
R4022:Syde2 UTSW 3 146015725 missense probably benign 0.25
R5077:Syde2 UTSW 3 146002009 missense probably damaging 1.00
R5084:Syde2 UTSW 3 146001409 frame shift probably null
R5084:Syde2 UTSW 3 146001408 nonsense probably null
R5086:Syde2 UTSW 3 146001408 nonsense probably null
R5087:Syde2 UTSW 3 146001408 nonsense probably null
R5087:Syde2 UTSW 3 146007126 missense probably damaging 1.00
R5101:Syde2 UTSW 3 146015638 missense probably damaging 1.00
R5211:Syde2 UTSW 3 146001338 missense probably benign 0.01
R5842:Syde2 UTSW 3 145999020 missense probably benign 0.00
R6025:Syde2 UTSW 3 146007141 splice site probably null
R6352:Syde2 UTSW 3 145998474 nonsense probably null
R6384:Syde2 UTSW 3 145998813 missense probably damaging 1.00
R6769:Syde2 UTSW 3 145999048 missense probably damaging 0.98
R6771:Syde2 UTSW 3 145999048 missense probably damaging 0.98
R6970:Syde2 UTSW 3 145988626 missense probably benign 0.15
R6988:Syde2 UTSW 3 146019809 missense probably benign 0.31
R7067:Syde2 UTSW 3 145988264 missense probably benign 0.00
R7146:Syde2 UTSW 3 146007115 nonsense probably null
R7191:Syde2 UTSW 3 146002358 missense probably benign 0.04
R7246:Syde2 UTSW 3 145988755 missense probably benign 0.22
R7271:Syde2 UTSW 3 146020276 missense possibly damaging 0.71
R7307:Syde2 UTSW 3 146015798 missense probably damaging 1.00
Posted On2013-12-09