Incidental Mutation 'IGL02629:Sync'
ID301220
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sync
Ensembl Gene ENSMUSG00000001333
Gene Namesyncoilin
Synonyms1110057H03Rik, SNIP4
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.079) question?
Stock #IGL02629
Quality Score
Status
Chromosome4
Chromosomal Location129287617-129308559 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 129293951 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 259 (F259L)
Ref Sequence ENSEMBL: ENSMUSP00000099659 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102599]
Predicted Effect probably damaging
Transcript: ENSMUST00000102599
AA Change: F259L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000099659
Gene: ENSMUSG00000001333
AA Change: F259L

DomainStartEndE-ValueType
low complexity region 65 75 N/A INTRINSIC
Filament 156 453 1.2e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146448
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the intermediate filament family which contains an N-terminal head domain, followed by a central coiled-coil region and a short C-terminal tail. The protein is highly expressed in skeletal and cardiac muscle. The protein links the dystrophin associated protein complex (DAPC) to desmin filaments in muscle and may have a structural role in striated muscle. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]
PHENOTYPE: Homozygotes for one knock-out allele show reduced generation of isometric stress in skeletal muscle but a normal response to eccentric contraction-induced injury. Homozygotes for another knock-out allele show impaired contractility and increased skeletalmuscle damage under a forced exercise regime. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik T C 10: 100,609,144 probably benign Het
Aadacl3 A G 4: 144,463,629 I34T possibly damaging Het
Acan T A 7: 79,111,979 I1979N possibly damaging Het
Ankrd27 A G 7: 35,625,696 D701G probably benign Het
Arhgap31 C T 16: 38,609,164 G450S probably benign Het
Braf T C 6: 39,688,299 E45G possibly damaging Het
Btnl6 C T 17: 34,514,468 V178M probably damaging Het
Capg A T 6: 72,555,754 Q67L probably benign Het
Carmil3 A G 14: 55,499,068 N663S probably damaging Het
Casz1 T A 4: 148,944,391 S1098T probably benign Het
Cd55b A T 1: 130,419,798 probably benign Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cenpf A G 1: 189,652,334 L2583P probably damaging Het
Clec4a1 A C 6: 122,932,147 probably null Het
Corin T C 5: 72,332,673 N653S probably damaging Het
Dhx36 T C 3: 62,506,734 E69G probably benign Het
Dpy19l1 C A 9: 24,438,713 probably benign Het
Fam184a T C 10: 53,698,811 N234S possibly damaging Het
Foxg1 A G 12: 49,385,548 S355G probably benign Het
Fsd1l T C 4: 53,686,417 S277P probably damaging Het
Hadh T A 3: 131,235,635 D245V probably damaging Het
Jag2 G A 12: 112,914,514 probably benign Het
Klhl18 A T 9: 110,429,938 probably benign Het
Lmx1a G T 1: 167,844,623 probably benign Het
Mcoln2 A G 3: 146,170,044 Y89C probably benign Het
Mug1 A T 6: 121,840,065 Y31F possibly damaging Het
Ndufb5 A G 3: 32,737,199 T32A probably benign Het
Nub1 C T 5: 24,703,464 H404Y possibly damaging Het
Nudt6 A G 3: 37,405,171 Y222H probably benign Het
Olfr1269 A T 2: 90,118,857 L247* probably null Het
Pla2g4c A T 7: 13,335,377 R159* probably null Het
Pnpla7 A G 2: 25,050,945 D1103G probably damaging Het
Pof1b T G X: 112,645,237 probably benign Het
Prrg2 C T 7: 45,056,742 probably null Het
Rab3gap1 A G 1: 127,909,863 T221A probably benign Het
Rfx7 A G 9: 72,619,259 N1244D probably damaging Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Rnf123 A T 9: 108,070,789 probably benign Het
Rnf44 T G 13: 54,683,062 Q207P possibly damaging Het
Serpina3g A G 12: 104,241,178 D200G probably damaging Het
Slc5a4a T A 10: 76,147,579 S17T unknown Het
Smc4 G T 3: 69,025,873 C609F probably damaging Het
Tas2r113 T C 6: 132,893,336 L109P probably damaging Het
Tjp2 C A 19: 24,122,379 probably benign Het
Tmem30a C A 9: 79,776,249 probably benign Het
Unc80 T C 1: 66,483,317 V226A possibly damaging Het
Upk2 A T 9: 44,454,139 L44Q probably damaging Het
Usp42 T C 5: 143,723,154 Y203C possibly damaging Het
Vmn1r28 A T 6: 58,265,816 I215F probably benign Het
Zswim2 A G 2: 83,925,209 V116A possibly damaging Het
Other mutations in Sync
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4354001:Sync UTSW 4 129306654 missense possibly damaging 0.71
R0017:Sync UTSW 4 129293744 missense probably damaging 1.00
R0017:Sync UTSW 4 129293744 missense probably damaging 1.00
R0242:Sync UTSW 4 129293721 missense probably damaging 1.00
R0242:Sync UTSW 4 129293721 missense probably damaging 1.00
R0825:Sync UTSW 4 129293397 missense probably benign 0.04
R0846:Sync UTSW 4 129294104 missense probably benign 0.13
R3824:Sync UTSW 4 129294363 missense possibly damaging 0.95
R4151:Sync UTSW 4 129293726 nonsense probably null
R4166:Sync UTSW 4 129306742 intron probably benign
R4760:Sync UTSW 4 129293439 missense probably benign 0.01
R5753:Sync UTSW 4 129293386 nonsense probably null
R6120:Sync UTSW 4 129293751 missense probably damaging 1.00
R6578:Sync UTSW 4 129294267 missense probably damaging 1.00
R6860:Sync UTSW 4 129287790 critical splice donor site probably null
R7347:Sync UTSW 4 129294306 missense probably benign 0.22
Posted On2015-04-16