Incidental Mutation 'R7612:Sync'
ID 588659
Institutional Source Beutler Lab
Gene Symbol Sync
Ensembl Gene ENSMUSG00000001333
Gene Name syncoilin
Synonyms SNIP4, 1110057H03Rik
MMRRC Submission 045680-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.092) question?
Stock # R7612 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 129181410-129202352 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 129187375 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 136 (M136L)
Ref Sequence ENSEMBL: ENSMUSP00000099659 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102599]
AlphaFold Q9EPM5
Predicted Effect probably benign
Transcript: ENSMUST00000102599
AA Change: M136L

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000099659
Gene: ENSMUSG00000001333
AA Change: M136L

DomainStartEndE-ValueType
low complexity region 65 75 N/A INTRINSIC
Filament 156 453 1.2e-2 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (51/51)
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
2310057N15Rik A T 16: 88,570,496 (GRCm39) Y181* probably null Het
Adgrf2 T G 17: 43,025,271 (GRCm39) K71T possibly damaging Het
Brca2 T A 5: 150,464,076 (GRCm39) M1280K probably benign Het
Card14 T C 11: 119,224,405 (GRCm39) S541P possibly damaging Het
Cd19 G T 7: 126,013,496 (GRCm39) Q98K possibly damaging Het
Ceacam5 T A 7: 17,493,341 (GRCm39) I788N possibly damaging Het
Cpne2 A T 8: 95,284,048 (GRCm39) I290L probably benign Het
Cpsf1 C T 15: 76,481,209 (GRCm39) V1216I probably benign Het
Csad G A 15: 102,097,357 (GRCm39) probably benign Het
Depdc7 T A 2: 104,560,853 (GRCm39) Q47L probably benign Het
Dnajc6 T A 4: 101,455,123 (GRCm39) S105T probably benign Het
Dsg4 C A 18: 20,604,047 (GRCm39) P838Q probably damaging Het
Efcab3 T A 11: 104,999,647 (GRCm39) Y179N possibly damaging Het
Egfr A T 11: 16,809,025 (GRCm39) N73I possibly damaging Het
Eya2 T C 2: 165,529,657 (GRCm39) probably null Het
Fubp1 A G 3: 151,923,652 (GRCm39) Q123R possibly damaging Het
Galns A G 8: 123,311,693 (GRCm39) I439T possibly damaging Het
Gm57858 A T 3: 36,079,506 (GRCm39) S261R possibly damaging Het
Gsdmd T G 15: 75,736,803 (GRCm39) L140R probably damaging Het
Hcrtr1 A G 4: 130,029,478 (GRCm39) V201A possibly damaging Het
Ildr2 T A 1: 166,135,361 (GRCm39) M371K probably benign Het
Kalrn G A 16: 34,134,582 (GRCm39) T412I possibly damaging Het
Kdm5b C T 1: 134,552,656 (GRCm39) Q1211* probably null Het
Loxhd1 T C 18: 77,517,671 (GRCm39) S1840P possibly damaging Het
Maml2 A G 9: 13,617,781 (GRCm39) M376V probably benign Het
Mgat4e T C 1: 134,469,745 (GRCm39) T100A probably damaging Het
Myo18b T A 5: 113,013,168 (GRCm39) T812S possibly damaging Het
Nanp T A 2: 150,881,158 (GRCm39) E30V probably null Het
Or2w1b G T 13: 21,300,217 (GRCm39) M118I probably damaging Het
Or4c107 T G 2: 88,788,849 (GRCm39) L13R probably damaging Het
Or5ac21 A T 16: 59,123,990 (GRCm39) H158L probably damaging Het
Parp3 T A 9: 106,351,393 (GRCm39) N241I probably benign Het
Piezo2 T C 18: 63,175,610 (GRCm39) N1924D probably benign Het
Pou1f1 A G 16: 65,326,811 (GRCm39) N137S probably damaging Het
Ptgdr A G 14: 45,096,094 (GRCm39) M206T probably damaging Het
Ptprd T C 4: 76,004,696 (GRCm39) T20A probably benign Het
Rexo1 G C 10: 80,385,497 (GRCm39) S520R probably benign Het
Sgip1 T A 4: 102,727,005 (GRCm39) S94T probably benign Het
Slc35e3 A G 10: 117,576,785 (GRCm39) V182A probably benign Het
Slfn2 A G 11: 82,961,089 (GRCm39) E356G probably damaging Het
Spry4 C A 18: 38,722,982 (GRCm39) K260N probably damaging Het
Tm7sf2 A G 19: 6,120,638 (GRCm39) V425A probably benign Het
Trim21 T A 7: 102,208,742 (GRCm39) M326L probably benign Het
Trim62 A G 4: 128,790,677 (GRCm39) Q158R probably benign Het
Tubgcp2 T A 7: 139,580,964 (GRCm39) K663M probably damaging Het
Uggt1 T C 1: 36,202,316 (GRCm39) I1094V probably damaging Het
Urb1 A G 16: 90,594,798 (GRCm39) S245P probably damaging Het
Vwa3a A T 7: 120,351,838 (GRCm39) D34V probably null Het
Zbtb45 C T 7: 12,741,326 (GRCm39) A311T possibly damaging Het
Zfp655 T C 5: 145,173,999 (GRCm39) S135P unknown 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
R0825:Sync UTSW 4 129,187,190 (GRCm39) missense probably benign 0.04
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
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'- AGCACTGACACTGTTTATCGAC -3'
(R):5'- TTGTAGGCAGCCAGGATGTC -3'

Sequencing Primer
(F):5'- GCACTGACACTGTTTATCGACGAATC -3'
(R):5'- TCCTGGTGGACTTGCTGCAC -3'
Posted On 2019-10-24