Incidental Mutation 'R6034:Synm'
ID 486442
Institutional Source Beutler Lab
Gene Symbol Synm
Ensembl Gene ENSMUSG00000030554
Gene Name synemin, intermediate filament protein
Synonyms Synemin, 4930412K21Rik, Dmn
MMRRC Submission 044206-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6034 (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 67384653 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 561 (V561A)
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: V1003A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000050987
Gene: ENSMUSG00000030554
AA Change: V1003A

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: V1003A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000073855
Gene: ENSMUSG00000030554
AA Change: V1003A

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: V561A

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 0.1523 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
Validation Efficiency 96% (55/57)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef4 G T 1: 34,760,984 (GRCm39) G80V unknown Het
Ash1l T C 3: 88,892,326 (GRCm39) Y1402H probably damaging Het
Atad2 A T 15: 57,971,959 (GRCm39) L306Q probably damaging Het
Atp2b4 T A 1: 133,659,645 (GRCm39) probably null Het
Atp6v1c2 C A 12: 17,357,501 (GRCm39) G95V possibly damaging Het
Birc6 T A 17: 74,922,278 (GRCm39) V2192E probably damaging Het
Catsperb A G 12: 101,542,091 (GRCm39) E597G probably benign Het
Ccdc40 A G 11: 119,133,898 (GRCm39) M556V possibly damaging Het
Ccin G A 4: 43,985,354 (GRCm39) R587K probably benign Het
Cdipt T G 7: 126,577,497 (GRCm39) V81G probably damaging Het
Cert1 A C 13: 96,746,308 (GRCm39) I236L probably benign Het
Cfh T C 1: 140,090,869 (GRCm39) K40E probably damaging Het
Cps1 T A 1: 67,196,872 (GRCm39) probably null Het
Dnah7c A T 1: 46,496,418 (GRCm39) D101V probably benign Het
Fastkd3 T A 13: 68,731,729 (GRCm39) W17R probably damaging Het
Gapdh T C 6: 125,142,261 (GRCm39) D25G probably benign Het
H1f4 A G 13: 23,806,296 (GRCm39) L62P probably damaging Het
H2-Ob T C 17: 34,460,192 (GRCm39) V30A probably damaging Het
Hmgxb3 T A 18: 61,265,594 (GRCm39) H1128L probably damaging Het
Hspbp1 A T 7: 4,680,711 (GRCm39) I255N probably damaging Het
Imp4 A G 1: 34,482,537 (GRCm39) D91G probably damaging Het
Itprid1 T A 6: 55,944,666 (GRCm39) D462E possibly damaging Het
Kcnip4 G T 5: 48,548,283 (GRCm39) R241S possibly damaging Het
Lilra5 T C 7: 4,245,133 (GRCm39) L259P probably benign Het
Lipf T C 19: 33,942,289 (GRCm39) I73T probably benign Het
Lsm7 T C 10: 80,688,742 (GRCm39) probably null Het
Luzp2 T A 7: 54,816,972 (GRCm39) L141M probably damaging Het
Malrd1 T A 2: 15,850,137 (GRCm39) V1252E possibly damaging Het
Map10 T C 8: 126,399,205 (GRCm39) L866P probably damaging Het
Mink1 AAGCAGCAGCAGCAGCAGCAGCAG AAGCAGCAGCAGCAGCAGCAG 11: 70,497,866 (GRCm39) probably benign Het
Mpp2 T C 11: 101,952,460 (GRCm39) I355V possibly damaging Het
Mtrf1l T A 10: 5,773,834 (GRCm39) probably benign Het
Myo5c A T 9: 75,163,187 (GRCm39) T339S probably benign Het
Naa15 A G 3: 51,350,242 (GRCm39) D163G probably damaging Het
Oosp2 A G 19: 11,628,879 (GRCm39) F74S probably damaging Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or4f7 T A 2: 111,644,702 (GRCm39) Y123F probably damaging Het
Pard3 C G 8: 127,791,077 (GRCm39) probably benign Het
Pcdha1 T A 18: 37,063,651 (GRCm39) I105N probably damaging Het
Pcdhgb8 A G 18: 37,895,601 (GRCm39) T224A possibly damaging Het
Phf12 A G 11: 77,908,895 (GRCm39) N325S probably benign Het
Prom1 T A 5: 44,201,750 (GRCm39) probably null Het
Raet1e A G 10: 22,057,990 (GRCm39) *252W probably null Het
Sap130 T C 18: 31,822,459 (GRCm39) V655A possibly damaging Het
Sec16b A T 1: 157,380,509 (GRCm39) K360I probably damaging Het
Sec23ip C T 7: 128,351,927 (GRCm39) T101I possibly damaging Het
Selenoo A G 15: 88,983,546 (GRCm39) K529R probably benign Het
Slc22a15 A G 3: 101,770,235 (GRCm39) F451L possibly damaging Het
St6gal2 T A 17: 55,789,982 (GRCm39) S339T probably benign Het
Stard13 A T 5: 151,018,965 (GRCm39) probably null Het
Tc2n A T 12: 101,617,460 (GRCm39) probably null Het
Ugt2b36 T A 5: 87,229,377 (GRCm39) D236V probably damaging Het
Vmn1r65 A G 7: 6,011,868 (GRCm39) L122P probably damaging Het
Zc3h14 T C 12: 98,737,632 (GRCm39) S40P probably benign Het
Zc3hav1l C A 6: 38,272,215 (GRCm39) G185C probably damaging Het
Zfp563 G A 17: 33,323,935 (GRCm39) A177T 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
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
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'- AGCGCTTGAAGAGAATGCCAC -3'
(R):5'- CACCTCCATCAAGGGTGTCTTC -3'

Sequencing Primer
(F):5'- CCAGCAGGCACCTCCTCTC -3'
(R):5'- CATCAAGGGTGTCTTCTCCAGTGAG -3'
Posted On 2017-08-16