Incidental Mutation 'R0825:Sync'
ID 78170
Institutional Source Beutler Lab
Gene Symbol Sync
Ensembl Gene ENSMUSG00000001333
Gene Name syncoilin
Synonyms SNIP4, 1110057H03Rik
MMRRC Submission 039005-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.092) question?
Stock # R0825 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 129181410-129202352 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 129187190 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 74 (Y74C)
Ref Sequence ENSEMBL: ENSMUSP00000099659 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102599]
AlphaFold Q9EPM5
Predicted Effect probably benign
Transcript: ENSMUST00000102599
AA Change: Y74C

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000099659
Gene: ENSMUSG00000001333
AA Change: Y74C

DomainStartEndE-ValueType
low complexity region 65 75 N/A INTRINSIC
Filament 156 453 1.2e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146448
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.5%
  • 10x: 96.4%
  • 20x: 91.4%
Validation Efficiency 98% (46/47)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T A 17: 24,619,551 (GRCm39) I963N probably damaging Het
Aox4 A G 1: 58,288,068 (GRCm39) D727G possibly damaging Het
Arhgef26 T A 3: 62,334,014 (GRCm39) I590N probably damaging Het
Arid1b T G 17: 5,392,453 (GRCm39) C1994W probably damaging Het
Chd9 T C 8: 91,777,825 (GRCm39) I2628T probably benign Het
Clspn G A 4: 126,466,923 (GRCm39) probably benign Het
Cyp2a4 A T 7: 26,012,341 (GRCm39) T375S probably benign Het
Dmtf1 A T 5: 9,180,388 (GRCm39) M226K probably damaging Het
Erap1 T C 13: 74,822,733 (GRCm39) probably benign Het
Frmpd1 A G 4: 45,285,394 (GRCm39) D1405G possibly damaging Het
Gfm2 A T 13: 97,279,612 (GRCm39) probably benign Het
Ghsr T C 3: 27,428,776 (GRCm39) V267A probably damaging Het
Golga2 A C 2: 32,194,803 (GRCm39) Q650P probably damaging Het
Hmgcl A G 4: 135,687,381 (GRCm39) T219A probably benign Het
Ift27 C A 15: 78,049,336 (GRCm39) probably benign Het
Igfn1 C T 1: 135,890,864 (GRCm39) E2379K probably damaging Het
Iqca1 C A 1: 90,070,453 (GRCm39) G133V probably null Het
Kpnb1 A T 11: 97,062,501 (GRCm39) S421R probably damaging Het
Minar1 G A 9: 89,485,332 (GRCm39) Q22* probably null Het
Mtx3 C A 13: 92,986,849 (GRCm39) T264K probably damaging Het
Nrg3 G A 14: 39,194,348 (GRCm39) P137L possibly damaging Het
Nt5c2 A G 19: 46,887,344 (GRCm39) probably benign Het
Or2y1e T A 11: 49,218,509 (GRCm39) H90Q probably benign Het
Or5ac17 G T 16: 59,036,813 (GRCm39) H54Q possibly damaging Het
Pcdhb2 G A 18: 37,428,710 (GRCm39) V228I possibly damaging Het
Pdcd5 G A 7: 35,346,338 (GRCm39) R91W possibly damaging Het
Pxdn G A 12: 30,034,995 (GRCm39) probably benign Het
Rgl2 T A 17: 34,154,133 (GRCm39) probably null Het
Rnf217 T C 10: 31,393,453 (GRCm39) D376G probably damaging Het
Septin9 C T 11: 117,250,286 (GRCm39) L519F probably damaging Het
Slc15a5 C T 6: 137,995,087 (GRCm39) C386Y possibly damaging Het
Srrm4 T A 5: 116,591,772 (GRCm39) I256F unknown Het
Stab1 G T 14: 30,874,557 (GRCm39) D950E probably benign Het
Stim2 A G 5: 54,275,825 (GRCm39) T667A probably benign Het
Strbp A T 2: 37,525,539 (GRCm39) N144K probably benign Het
Terb1 A T 8: 105,195,380 (GRCm39) M587K possibly damaging Het
Tgfbi T C 13: 56,786,523 (GRCm39) probably benign Het
Tmf1 A T 6: 97,152,956 (GRCm39) N372K probably benign Het
Ubr4 G T 4: 139,206,887 (GRCm39) probably null Het
Uggt1 A T 1: 36,197,224 (GRCm39) N1226K probably benign Het
Ugt2b34 T C 5: 87,054,560 (GRCm39) I74V possibly damaging Het
Wdfy3 A G 5: 102,017,917 (GRCm39) L2541P probably damaging Het
Zfhx3 T G 8: 109,675,840 (GRCm39) F2297V probably damaging Het
Other mutations in Sync
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02629:Sync APN 4 129,187,744 (GRCm39) missense probably damaging 0.99
PIT4354001:Sync UTSW 4 129,200,447 (GRCm39) missense possibly damaging 0.71
R0017:Sync UTSW 4 129,187,537 (GRCm39) missense probably damaging 1.00
R0017:Sync UTSW 4 129,187,537 (GRCm39) missense probably damaging 1.00
R0242:Sync UTSW 4 129,187,514 (GRCm39) missense probably damaging 1.00
R0242:Sync UTSW 4 129,187,514 (GRCm39) missense probably damaging 1.00
R0846:Sync UTSW 4 129,187,897 (GRCm39) missense probably benign 0.13
R3824:Sync UTSW 4 129,188,156 (GRCm39) missense possibly damaging 0.95
R4151:Sync UTSW 4 129,187,519 (GRCm39) nonsense probably null
R4166:Sync UTSW 4 129,200,535 (GRCm39) intron probably benign
R4760:Sync UTSW 4 129,187,232 (GRCm39) missense probably benign 0.01
R5753:Sync UTSW 4 129,187,179 (GRCm39) nonsense probably null
R6120:Sync UTSW 4 129,187,544 (GRCm39) missense probably damaging 1.00
R6578:Sync UTSW 4 129,188,060 (GRCm39) missense probably damaging 1.00
R6860:Sync UTSW 4 129,181,583 (GRCm39) critical splice donor site probably null
R7347:Sync UTSW 4 129,188,099 (GRCm39) missense probably benign 0.22
R7612:Sync UTSW 4 129,187,375 (GRCm39) missense probably benign 0.11
R9058:Sync UTSW 4 129,187,217 (GRCm39) missense probably damaging 0.99
R9145:Sync UTSW 4 129,187,618 (GRCm39) missense
R9266:Sync UTSW 4 129,187,179 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TTCCTCTTCAGGAGTCAGAATCCCC -3'
(R):5'- CGGCTTGTACACACTGCTGGAAAC -3'

Sequencing Primer
(F):5'- GTCAGAATCCCCGAAGGAG -3'
(R):5'- ACTGCTGGAAACGAGCTTC -3'
Posted On 2013-10-16