Incidental Mutation 'R6446:Synm'
ID 519191
Institutional Source Beutler Lab
Gene Symbol Synm
Ensembl Gene ENSMUSG00000030554
Gene Name synemin, intermediate filament protein
Synonyms Synemin, 4930412K21Rik, Dmn
MMRRC Submission 044583-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6446 (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 G at 67384714 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 541 (S541P)
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: S983P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000050987
Gene: ENSMUSG00000030554
AA Change: S983P

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: S983P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000073855
Gene: ENSMUSG00000030554
AA Change: S983P

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: S541P

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
Meta Mutation Damage Score 0.1745 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 93.9%
Validation Efficiency 97% (36/37)
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
Atp13a3 A G 16: 30,180,687 (GRCm39) L114P probably benign Het
Blm GCCTCCTCCTCCTCCTCCTCCTCCTCCTCC GCCTCCTCCTCCTCCTCCTCCTCCTCC 7: 80,162,652 (GRCm39) probably benign Het
Catsperg1 T C 7: 28,905,992 (GRCm39) I196V probably benign Het
Cbx2 T A 11: 118,918,752 (GRCm39) S106T probably benign Het
Ccar2 T A 14: 70,380,518 (GRCm39) E354V probably benign Het
Ccr1 A G 9: 123,764,143 (GRCm39) I129T probably damaging Het
Cdkl2 T A 5: 92,181,076 (GRCm39) I188F probably damaging Het
Cep350 T C 1: 155,737,900 (GRCm39) N2648D probably benign Het
Chtf18 A G 17: 25,940,218 (GRCm39) S658P probably benign Het
Csnka2ip G A 16: 64,299,744 (GRCm39) Q207* probably null Het
Dennd5a A G 7: 109,493,873 (GRCm39) L1253P probably damaging Het
Dennd6a T A 14: 26,350,689 (GRCm39) I374K probably damaging Het
Dut T C 2: 125,092,939 (GRCm39) probably null Het
Gcm1 T C 9: 77,967,065 (GRCm39) Y95H probably benign Het
Grid2 A T 6: 64,322,577 (GRCm39) I526F probably damaging Het
Hectd4 T A 5: 121,472,438 (GRCm39) Y2725N possibly damaging Het
Helq A T 5: 100,916,250 (GRCm39) N907K possibly damaging Het
Hpse G A 5: 100,843,435 (GRCm39) Q246* probably null Het
Iigp1c A G 18: 60,378,840 (GRCm39) D125G probably damaging Het
Kcnj15 C T 16: 95,097,118 (GRCm39) H247Y probably benign Het
Kif27 C A 13: 58,493,530 (GRCm39) V138F probably damaging Het
Map7 T G 10: 20,153,979 (GRCm39) D698E unknown Het
Mtmr11 A T 3: 96,078,504 (GRCm39) S687C probably benign Het
Ncbp2 CGTCTGGATG CG 16: 31,775,161 (GRCm39) probably null Het
Nup210l G A 3: 90,079,375 (GRCm39) G953E probably damaging Het
Or14c45 T A 7: 86,176,310 (GRCm39) I115N possibly damaging Het
Piezo2 G T 18: 63,219,678 (GRCm39) P792T probably damaging Het
Pld3 T C 7: 27,237,156 (GRCm39) D241G probably damaging Het
Prss35 G T 9: 86,637,706 (GRCm39) V159F probably damaging Het
Rimbp3 A T 16: 17,030,793 (GRCm39) M1406L probably benign Het
Serpina3g T C 12: 104,205,341 (GRCm39) F27L probably damaging Het
Setd1b G A 5: 123,299,862 (GRCm39) probably benign Het
Sh3glb1 T C 3: 144,411,366 (GRCm39) K13E probably damaging Het
Slc29a1 A T 17: 45,900,171 (GRCm39) I217N possibly damaging Het
Spag17 A T 3: 100,010,448 (GRCm39) T1981S probably benign Het
Svil A C 18: 5,057,323 (GRCm39) E590D probably benign Het
Vmn2r108 A T 17: 20,692,609 (GRCm39) Y82* 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
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'- CTTGAAGAGAATGCCACCAGC -3'
(R):5'- TGCTGAACCCACAGTCATTGAG -3'

Sequencing Primer
(F):5'- CTGTCTGGGCTTCTAGGCAC -3'
(R):5'- CTGAACCCACAGTCATTGAGAAAGAG -3'
Posted On 2018-05-24