Incidental Mutation 'R9281:Synm'
ID 703627
Institutional Source Beutler Lab
Gene Symbol Synm
Ensembl Gene ENSMUSG00000030554
Gene Name synemin, intermediate filament protein
Synonyms Synemin, 4930412K21Rik, Dmn
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9281 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 67379909-67409490 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 67386048 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 538 (L538*)
Ref Sequence ENSEMBL: ENSMUSP00000073855 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051389] [ENSMUST00000074233] [ENSMUST00000207102] [ENSMUST00000208231] [ENSMUST00000208815]
AlphaFold Q70IV5
Predicted Effect probably null
Transcript: ENSMUST00000051389
AA Change: L538*
SMART Domains Protein: ENSMUSP00000050987
Gene: ENSMUSG00000030554
AA Change: L538*

DomainStartEndE-ValueType
Pfam:Filament 10 321 2.7e-38 PFAM
low complexity region 1248 1257 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000074233
AA Change: L538*
SMART Domains Protein: ENSMUSP00000073855
Gene: ENSMUSG00000030554
AA Change: L538*

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 null
Transcript: ENSMUST00000207102
AA Change: L96*
Predicted Effect probably benign
Transcript: ENSMUST00000208231
Predicted Effect probably benign
Transcript: ENSMUST00000208764
Predicted Effect probably null
Transcript: ENSMUST00000208815
AA Change: L538*
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik A G 7: 41,274,184 (GRCm39) I102M possibly damaging Het
2700049A03Rik G A 12: 71,205,687 (GRCm39) V444I possibly damaging Het
Afdn T A 17: 14,024,270 (GRCm39) C59S probably damaging Het
Ano1 A T 7: 144,149,318 (GRCm39) Y848N probably damaging Het
Arap2 C T 5: 62,906,848 (GRCm39) R57H probably damaging Het
Atp10b C T 11: 43,116,458 (GRCm39) T935I probably benign Het
Bcl11b A G 12: 107,882,257 (GRCm39) L686P possibly damaging Het
Bmp5 T C 9: 75,683,856 (GRCm39) V161A probably benign Het
C1qtnf3 A G 15: 10,978,607 (GRCm39) E196G probably benign Het
Cacng8 T A 7: 3,460,608 (GRCm39) F130L probably damaging Het
Cap1 A G 4: 122,766,226 (GRCm39) M4T probably benign Het
Ccdc57 T C 11: 120,751,413 (GRCm39) K886E probably benign Het
Cdhr2 A C 13: 54,881,703 (GRCm39) T1112P possibly damaging Het
Clcn4 A T 7: 7,294,813 (GRCm39) M316K probably benign Het
Col22a1 A T 15: 71,732,920 (GRCm39) D1099E unknown Het
Csmd3 A C 15: 47,460,272 (GRCm39) N2595K Het
Ctdspl2 A G 2: 121,841,063 (GRCm39) H451R probably benign Het
Cybrd1 A T 2: 70,968,735 (GRCm39) T203S probably benign Het
Dhx29 A G 13: 113,078,240 (GRCm39) N312S possibly damaging Het
Dhx30 A T 9: 109,929,983 (GRCm39) S38T probably benign Het
Dync2i1 G A 12: 116,211,677 (GRCm39) R277* probably null Het
Ercc8 G T 13: 108,320,364 (GRCm39) A317S probably benign Het
Fndc3a T C 14: 72,799,097 (GRCm39) T629A probably benign Het
Frmpd1 G T 4: 45,284,127 (GRCm39) A983S probably benign Het
Gm14325 T A 2: 177,473,597 (GRCm39) Y495F probably damaging Het
Gm5773 A T 3: 93,680,891 (GRCm39) T188S probably benign Het
Gpsm1 C A 2: 26,214,488 (GRCm39) N243K probably damaging Het
Inpp4a C G 1: 37,410,850 (GRCm39) H339Q probably damaging Het
Kat2b A G 17: 53,931,425 (GRCm39) D141G probably benign Het
Kdm4a A G 4: 117,995,728 (GRCm39) V1003A probably damaging Het
Lrrc25 T A 8: 71,073,246 (GRCm39) M276K probably benign Het
Ltbp2 G A 12: 84,837,864 (GRCm39) P1192L probably benign Het
Mcmdc2 G A 1: 9,994,425 (GRCm39) G406D probably damaging Het
Mfhas1 G T 8: 36,057,951 (GRCm39) A809S probably benign Het
Mier2 A T 10: 79,378,294 (GRCm39) D376E probably benign Het
Mllt3 A C 4: 87,707,566 (GRCm39) H464Q probably benign Het
Mtrex A T 13: 113,046,443 (GRCm39) C302* probably null Het
Myo6 T A 9: 80,162,164 (GRCm39) Y300* probably null Het
Myzap T C 9: 71,493,482 (GRCm39) D31G unknown Het
Nfatc1 T C 18: 80,741,190 (GRCm39) Y270C probably damaging Het
Nsd3 T C 8: 26,152,961 (GRCm39) S434P probably benign Het
Or13p3 A G 4: 118,566,592 (GRCm39) probably benign Het
Or1e26 T A 11: 73,480,133 (GRCm39) M144L probably benign Het
Osbp2 T A 11: 3,813,375 (GRCm39) T165S probably benign Het
Plxna1 A G 6: 89,300,313 (GRCm39) V1590A probably damaging Het
Pramel7 A G 2: 87,321,495 (GRCm39) L180P probably damaging Het
Prkd1 C T 12: 50,536,758 (GRCm39) D109N probably benign Het
Ptger3 A G 3: 157,273,090 (GRCm39) M146V probably benign Het
Pts A G 9: 50,433,853 (GRCm39) V96A probably damaging Het
Rab11fip5 T C 6: 85,318,834 (GRCm39) E685G probably benign Het
Rab27a C T 9: 72,992,278 (GRCm39) T102I probably damaging Het
Reln A G 5: 22,153,545 (GRCm39) L2253P probably damaging Het
Rock1 C T 18: 10,080,479 (GRCm39) A1022T probably benign Het
Rspry1 T A 8: 95,363,259 (GRCm39) N259K probably damaging Het
Sdha A T 13: 74,472,056 (GRCm39) Y604* probably null Het
Slc12a6 A G 2: 112,164,754 (GRCm39) N151S probably benign Het
Slc26a5 T A 5: 22,019,051 (GRCm39) D596V probably benign Het
Snrpa A G 7: 26,891,051 (GRCm39) V140A probably benign Het
Spta1 T G 1: 174,047,444 (GRCm39) V1696G probably damaging Het
St13 A T 15: 81,261,927 (GRCm39) D179E probably damaging Het
Stpg4 T C 17: 87,702,671 (GRCm39) D182G probably benign Het
Tigar A T 6: 127,068,157 (GRCm39) L87H probably damaging Het
Tmem67 C A 4: 12,079,962 (GRCm39) V110F possibly damaging Het
Trav6n-5 T A 14: 53,342,744 (GRCm39) L94* probably null Het
Ttf1 A G 2: 28,955,902 (GRCm39) H422R probably benign Het
Ttn A G 2: 76,619,926 (GRCm39) V15914A probably damaging Het
Vmn2r13 C A 5: 109,303,953 (GRCm39) C826F probably damaging Het
Wwc1 C G 11: 35,780,211 (GRCm39) G248A probably benign Het
Zfp120 G A 2: 149,959,615 (GRCm39) H258Y probably damaging Het
Zfp142 A G 1: 74,607,731 (GRCm39) Y1681H probably damaging Het
Zkscan3 A G 13: 21,579,045 (GRCm39) L150P possibly damaging Het
Zscan4-ps1 G T 7: 10,799,589 (GRCm39) F433L possibly 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
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
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'- CTGCAAGTGTATGGTGGACAC -3'
(R):5'- CGGGCTACAGAGTCTGTTATTAC -3'

Sequencing Primer
(F):5'- GTGGACACCTCTGCTCTGCTG -3'
(R):5'- GGCTACAGAGTCTGTTATTACCAGAG -3'
Posted On 2022-03-25