Incidental Mutation 'R2979:Synm'
ID 257039
Institutional Source Beutler Lab
Gene Symbol Synm
Ensembl Gene ENSMUSG00000030554
Gene Name synemin, intermediate filament protein
Synonyms Synemin, 4930412K21Rik, Dmn
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2979 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 67379909-67409490 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 67386008 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 551 (R551S)
Ref Sequence ENSEMBL: ENSMUSP00000147111 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051389] [ENSMUST00000074233] [ENSMUST00000207102] [ENSMUST00000208231] [ENSMUST00000208815]
AlphaFold Q70IV5
Predicted Effect probably damaging
Transcript: ENSMUST00000051389
AA Change: R551S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000050987
Gene: ENSMUSG00000030554
AA Change: R551S

DomainStartEndE-ValueType
Pfam:Filament 10 321 2.7e-38 PFAM
low complexity region 1248 1257 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000074233
AA Change: R551S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000073855
Gene: ENSMUSG00000030554
AA Change: R551S

DomainStartEndE-ValueType
Filament 10 321 6.4e-38 SMART
internal_repeat_1 1089 1185 3.03e-7 PROSPERO
internal_repeat_1 1351 1454 3.03e-7 PROSPERO
low complexity region 1550 1559 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000207102
AA Change: R109S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000208231
Predicted Effect probably benign
Transcript: ENSMUST00000208764
Predicted Effect probably damaging
Transcript: ENSMUST00000208815
AA Change: R551S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.4%
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 an intermediate filament (IF) family member. IF proteins are cytoskeletal proteins that confer resistance to mechanical stress and are encoded by a dispersed multigene family. This protein has been found to form a linkage between desmin, which is a subunit of the IF network, and the extracellular matrix, and provides an important structural support in muscle. Two alternatively spliced variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit a mild skeletal muscle phenotype characterized by abnormal muscle fiber morphology and increased sarcolemmal deformability and susceptibility to injury. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afm A G 5: 90,670,022 (GRCm39) I48V probably benign Het
Arhgef1 A G 7: 24,607,176 (GRCm39) E16G unknown Het
Cps1 T C 1: 67,243,863 (GRCm39) probably null Het
Dnah9 T C 11: 66,008,414 (GRCm39) K804E possibly damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Gm18025 G T 12: 34,340,970 (GRCm39) P41Q probably damaging Het
Kdm4c A T 4: 74,291,965 (GRCm39) R861* probably null Het
Klhl2 C T 8: 65,275,730 (GRCm39) V58I probably damaging Het
Msl1 G A 11: 98,691,050 (GRCm39) G178E possibly damaging Het
Nacad T A 11: 6,551,424 (GRCm39) Q589L probably benign Het
Pros1 A G 16: 62,734,229 (GRCm39) D345G probably damaging Het
Sh3tc2 A G 18: 62,122,556 (GRCm39) Y439C probably damaging Het
Smarcad1 T A 6: 65,051,995 (GRCm39) M376K probably benign Het
Srd5a1 T C 13: 69,748,418 (GRCm39) Q127R probably damaging Het
Trmt1 A G 8: 85,423,511 (GRCm39) Y301C probably damaging Het
Ttc23l G A 15: 10,537,652 (GRCm39) S206L probably benign Het
Txnl1 T C 18: 63,804,691 (GRCm39) T268A probably benign Het
Zbbx C A 3: 74,985,793 (GRCm39) E420* probably null Het
Zc3h7a A T 16: 10,976,837 (GRCm39) V153E probably damaging Het
Other mutations in Synm
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00161:Synm APN 7 67,384,663 (GRCm39) missense probably benign 0.01
IGL01567:Synm APN 7 67,384,980 (GRCm39) missense probably damaging 0.99
IGL01867:Synm APN 7 67,383,222 (GRCm39) missense probably benign 0.13
IGL01870:Synm APN 7 67,385,866 (GRCm39) missense possibly damaging 0.86
IGL01951:Synm APN 7 67,388,885 (GRCm39) missense probably damaging 1.00
IGL02264:Synm APN 7 67,384,144 (GRCm39) missense probably damaging 0.99
IGL02892:Synm APN 7 67,384,804 (GRCm39) missense probably damaging 1.00
PIT4449001:Synm UTSW 7 67,385,025 (GRCm39) missense probably benign
R0032:Synm UTSW 7 67,383,675 (GRCm39) missense possibly damaging 0.90
R0194:Synm UTSW 7 67,384,672 (GRCm39) missense probably damaging 1.00
R0345:Synm UTSW 7 67,385,569 (GRCm39) missense probably benign 0.13
R0453:Synm UTSW 7 67,386,630 (GRCm39) missense possibly damaging 0.92
R0646:Synm UTSW 7 67,408,916 (GRCm39) missense probably benign 0.07
R0847:Synm UTSW 7 67,384,804 (GRCm39) missense probably damaging 1.00
R0919:Synm UTSW 7 67,385,095 (GRCm39) missense probably damaging 1.00
R1484:Synm UTSW 7 67,386,080 (GRCm39) missense probably damaging 1.00
R1700:Synm UTSW 7 67,409,376 (GRCm39) start codon destroyed probably null 0.98
R1715:Synm UTSW 7 67,386,051 (GRCm39) missense probably damaging 1.00
R1796:Synm UTSW 7 67,383,748 (GRCm39) missense possibly damaging 0.77
R1799:Synm UTSW 7 67,385,707 (GRCm39) missense probably damaging 1.00
R2116:Synm UTSW 7 67,383,343 (GRCm39) missense probably benign 0.18
R4116:Synm UTSW 7 67,384,405 (GRCm39) missense possibly damaging 0.50
R4172:Synm UTSW 7 67,385,109 (GRCm39) missense probably damaging 1.00
R4981:Synm UTSW 7 67,384,235 (GRCm39) missense probably benign 0.02
R5114:Synm UTSW 7 67,385,406 (GRCm39) missense probably damaging 1.00
R5276:Synm UTSW 7 67,384,437 (GRCm39) missense probably benign 0.08
R5446:Synm UTSW 7 67,385,722 (GRCm39) missense probably benign 0.17
R5592:Synm UTSW 7 67,409,264 (GRCm39) missense probably damaging 1.00
R5960:Synm UTSW 7 67,385,494 (GRCm39) missense probably damaging 1.00
R6025:Synm UTSW 7 67,384,686 (GRCm39) missense possibly damaging 0.78
R6034:Synm UTSW 7 67,384,653 (GRCm39) missense probably damaging 1.00
R6034:Synm UTSW 7 67,384,653 (GRCm39) missense probably damaging 1.00
R6445:Synm UTSW 7 67,383,393 (GRCm39) missense probably benign
R6446:Synm UTSW 7 67,384,714 (GRCm39) missense probably damaging 1.00
R6492:Synm UTSW 7 67,385,809 (GRCm39) missense probably benign 0.00
R6526:Synm UTSW 7 67,385,331 (GRCm39) missense possibly damaging 0.62
R6612:Synm UTSW 7 67,383,264 (GRCm39) missense probably damaging 0.99
R6646:Synm UTSW 7 67,384,875 (GRCm39) missense probably damaging 1.00
R6708:Synm UTSW 7 67,382,994 (GRCm39) missense possibly damaging 0.72
R6957:Synm UTSW 7 67,385,848 (GRCm39) missense probably benign 0.28
R6988:Synm UTSW 7 67,383,406 (GRCm39) missense probably damaging 1.00
R7208:Synm UTSW 7 67,384,663 (GRCm39) missense probably benign 0.01
R7320:Synm UTSW 7 67,385,128 (GRCm39) missense possibly damaging 0.89
R7417:Synm UTSW 7 67,382,954 (GRCm39) makesense probably null
R7425:Synm UTSW 7 67,383,194 (GRCm39) missense probably damaging 0.99
R7468:Synm UTSW 7 67,382,971 (GRCm39) missense unknown
R7733:Synm UTSW 7 67,385,693 (GRCm39) splice site probably null
R7782:Synm UTSW 7 67,384,714 (GRCm39) missense probably damaging 1.00
R7826:Synm UTSW 7 67,385,337 (GRCm39) missense probably damaging 1.00
R7971:Synm UTSW 7 67,384,983 (GRCm39) missense possibly damaging 0.74
R8177:Synm UTSW 7 67,383,813 (GRCm39) missense probably benign 0.00
R8190:Synm UTSW 7 67,383,654 (GRCm39) missense probably benign
R8225:Synm UTSW 7 67,408,797 (GRCm39) missense probably benign 0.16
R8414:Synm UTSW 7 67,383,511 (GRCm39) missense probably benign 0.12
R8880:Synm UTSW 7 67,386,456 (GRCm39) missense possibly damaging 0.84
R8978:Synm UTSW 7 67,384,672 (GRCm39) missense probably damaging 1.00
R9027:Synm UTSW 7 67,384,440 (GRCm39) missense probably damaging 1.00
R9089:Synm UTSW 7 67,408,766 (GRCm39) missense probably damaging 0.97
R9281:Synm UTSW 7 67,386,048 (GRCm39) nonsense probably null
R9430:Synm UTSW 7 67,383,181 (GRCm39) missense possibly damaging 0.95
R9732:Synm UTSW 7 67,385,652 (GRCm39) missense probably damaging 1.00
Z1088:Synm UTSW 7 67,401,634 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCCGGAACCTTGTCTCTTTG -3'
(R):5'- CTCCGTCAAATGAGAGGACTG -3'

Sequencing Primer
(F):5'- GGAACCTTGTCTCTTTGGTCTCTG -3'
(R):5'- AATGAGAGGACTGTCATTCTGG -3'
Posted On 2015-01-11