Incidental Mutation 'R6646:Synm'
ID 527974
Institutional Source Beutler Lab
Gene Symbol Synm
Ensembl Gene ENSMUSG00000030554
Gene Name synemin, intermediate filament protein
Synonyms Synemin, 4930412K21Rik, Dmn
MMRRC Submission 044767-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6646 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 67379909-67409490 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 67384875 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 487 (I487K)
Ref Sequence ENSEMBL: ENSMUSP00000146510 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051389] [ENSMUST00000074233] [ENSMUST00000207102] [ENSMUST00000208231] [ENSMUST00000208815]
AlphaFold Q70IV5
Predicted Effect probably damaging
Transcript: ENSMUST00000051389
AA Change: I929K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000050987
Gene: ENSMUSG00000030554
AA Change: I929K

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: I929K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000073855
Gene: ENSMUSG00000030554
AA Change: I929K

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: I487K

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 benign
Transcript: ENSMUST00000208815
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.4%
Validation Efficiency 100% (41/41)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ada G T 2: 163,577,343 (GRCm39) N48K probably benign Het
Aldh1a7 C T 19: 20,677,275 (GRCm39) A449T possibly damaging Het
Arhgef28 A G 13: 98,076,002 (GRCm39) V1344A probably benign Het
Carmil3 A T 14: 55,745,387 (GRCm39) E1371D probably damaging Het
Crebbp C T 16: 3,937,670 (GRCm39) A698T possibly damaging Het
Dedd2 T C 7: 24,903,038 (GRCm39) D307G probably damaging Het
Dennd6b G T 15: 89,070,387 (GRCm39) F427L probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Homo
Doc2a G A 7: 126,450,791 (GRCm39) probably null Het
Dst A G 1: 34,307,888 (GRCm39) T6503A possibly damaging Het
Ehmt1 A T 2: 24,696,322 (GRCm39) I922K probably damaging Het
Gbp9 A G 5: 105,230,769 (GRCm39) I385T probably benign Het
Gipc2 A T 3: 151,799,838 (GRCm39) D297E possibly damaging Het
Krt6b T A 15: 101,585,649 (GRCm39) Q428L probably damaging Het
Loxl4 T C 19: 42,587,220 (GRCm39) D625G probably damaging Het
Lrrn2 C T 1: 132,866,794 (GRCm39) P620S probably benign Het
Msh6 T C 17: 88,293,870 (GRCm39) V875A possibly damaging Het
Nebl T C 2: 17,381,496 (GRCm39) T727A probably damaging Het
Obscn T C 11: 58,973,544 (GRCm39) D1929G possibly damaging Het
Pard3b T C 1: 62,200,280 (GRCm39) V273A probably benign Het
Pcdhb7 T A 18: 37,477,027 (GRCm39) V721E possibly damaging Het
Plaa A T 4: 94,478,215 (GRCm39) H82Q probably benign Het
Plcd1 T A 9: 118,904,100 (GRCm39) Y278F probably damaging Het
Plxnb1 C A 9: 108,937,895 (GRCm39) H1214N probably benign Het
Ptprg C A 14: 11,962,714 (GRCm38) P171T probably damaging Het
Rela T G 19: 5,697,132 (GRCm39) D446E probably damaging Het
Rpap1 T C 2: 119,610,612 (GRCm39) I156V probably benign Het
Rpl15 T C 14: 18,270,040 (GRCm38) Y59C probably damaging Het
Scx C A 15: 76,342,121 (GRCm39) T107N probably damaging Het
Skint5 T A 4: 113,797,974 (GRCm39) K203I possibly damaging Het
Slc16a6 C T 11: 109,343,988 (GRCm39) M518I probably benign Het
Sorbs1 C T 19: 40,313,993 (GRCm39) G940R probably damaging Het
Spata31h1 T A 10: 82,132,664 (GRCm39) E115D unknown Het
Tcerg1l A T 7: 137,996,912 (GRCm39) probably null Het
Vmn2r99 T G 17: 19,600,293 (GRCm39) L439R probably damaging Het
Wdr75 T A 1: 45,838,247 (GRCm39) L52Q probably damaging Het
Zswim2 T A 2: 83,746,128 (GRCm39) R437* probably null 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
R2979:Synm UTSW 7 67,386,008 (GRCm39) missense probably damaging 1.00
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
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'- AGCGCTCTGGACTTTCTTTACG -3'
(R):5'- GTCTACCATCCGGTACTCATGG -3'

Sequencing Primer
(F):5'- GGACTTTCTTTACGTCCACAGAAACG -3'
(R):5'- ATCCGGTACTCATGGCAAGACG -3'
Posted On 2018-07-24