Incidental Mutation 'R6086:Scnm1'
ID 482464
Institutional Source Beutler Lab
Gene Symbol Scnm1
Ensembl Gene ENSMUSG00000092607
Gene Name sodium channel modifier 1
Synonyms 3110001I17Rik, Scnm1-ps
MMRRC Submission 044427-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.152) question?
Stock # R6086 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 95037030-95041285 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 95037596 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 157 (I157V)
Ref Sequence ENSEMBL: ENSMUSP00000134337 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005769] [ENSMUST00000066386] [ENSMUST00000107227] [ENSMUST00000131597] [ENSMUST00000172572] [ENSMUST00000173462]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000005769
SMART Domains Protein: ENSMUSP00000005769
Gene: ENSMUSG00000005628

DomainStartEndE-ValueType
Pfam:Tropomodulin 4 143 2.7e-62 PFAM
PDB:1IO0|A 160 343 6e-77 PDB
SCOP:d1a4ya_ 184 289 4e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000066386
SMART Domains Protein: ENSMUSP00000067811
Gene: ENSMUSG00000053769

DomainStartEndE-ValueType
low complexity region 10 19 N/A INTRINSIC
LysM 41 85 2.58e-7 SMART
low complexity region 100 108 N/A INTRINSIC
low complexity region 117 132 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107227
SMART Domains Protein: ENSMUSP00000102846
Gene: ENSMUSG00000005628

DomainStartEndE-ValueType
Pfam:Tropomodulin 1 144 4.4e-72 PFAM
PDB:1IO0|A 160 343 6e-77 PDB
SCOP:d1a4ya_ 184 289 4e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130545
Predicted Effect probably benign
Transcript: ENSMUST00000131597
SMART Domains Protein: ENSMUSP00000116341
Gene: ENSMUSG00000005628

DomainStartEndE-ValueType
Pfam:Tropomodulin 1 144 1.5e-72 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135867
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199730
Predicted Effect probably benign
Transcript: ENSMUST00000172572
AA Change: I157V

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000134337
Gene: ENSMUSG00000092607
AA Change: I157V

DomainStartEndE-ValueType
Pfam:zf-SCNM1 44 70 7.6e-19 PFAM
low complexity region 133 148 N/A INTRINSIC
low complexity region 172 179 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174508
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174835
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174859
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149898
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196728
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173527
Predicted Effect probably benign
Transcript: ENSMUST00000173462
SMART Domains Protein: ENSMUSP00000133769
Gene: ENSMUSG00000092607

DomainStartEndE-ValueType
Blast:ZnF_C2H2 42 68 2e-7 BLAST
Meta Mutation Damage Score 0.0663 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
Validation Efficiency 96% (65/68)
MGI Phenotype FUNCTION: Mutations in the voltage-gated sodium channel gene Scn8a lead to neurological problems in mice. For one particular mutation, Scn8amedJ, mice live to adulthood but have tremors and muscle weakness, among other problems, in all strains except those derived from C57BL6 mice. In these strains, the product of the Scnm1 gene (229 aa) partially overcomes the effects of the Scn8amedJ mutation. However, in C57BL6-derived mice, a one nt change in the penultimate exon creates a premature stop codon, truncating the Scnm1 protein at 186 aa. This truncated protein lacks the ability to overcome the effects of the Scn8amedJ mutation, and these mice suffer paralysis and juvenile death. [provided by RefSeq, Jul 2009]
PHENOTYPE: The Scnm1 locus influences the severity of the Scn8amed-J phenotype. Mice carrying the recesive susceptibility allele of the modifier are paralyzed and do not survive beyond 1 month. Mice carryimg the resistant allele display progressive dystonia with ataxia and live more than 1.5 years. [provided by MGI curators]
Allele List at MGI

All alleles(10) : Targeted, knock-out(1) Targeted, other(1) Gene trapped(6) Spontaneous(1) Chemically induced(1)

Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apob G T 12: 8,065,164 (GRCm39) K4044N probably benign Het
Asic4 G A 1: 75,449,887 (GRCm39) V468I possibly damaging Het
Atf4 T A 15: 80,141,654 (GRCm39) V348D probably benign Het
Bcl9 A G 3: 97,112,840 (GRCm39) V1205A possibly damaging Het
Bora A T 14: 99,299,730 (GRCm39) Q234L possibly damaging Het
Cap2 C A 13: 46,789,188 (GRCm39) P131Q probably damaging Het
Cdyl2 A G 8: 117,316,035 (GRCm39) S318P probably damaging Het
Ces1a T G 8: 93,753,981 (GRCm39) N341H probably benign Het
Cimap2 T C 4: 106,470,403 (GRCm39) E218G probably damaging Het
Crlf3 C T 11: 79,939,436 (GRCm39) V352M possibly damaging Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Cyren A G 6: 34,851,555 (GRCm39) S127P probably damaging Het
Dnah2 T C 11: 69,406,834 (GRCm39) T529A probably benign Het
Dnah9 C T 11: 65,880,741 (GRCm39) D2619N probably damaging Het
Dnah9 A C 11: 65,976,000 (GRCm39) S1350A probably benign Het
Dnajc6 C T 4: 101,455,004 (GRCm39) S65L probably benign Het
Dnm3 C A 1: 162,148,602 (GRCm39) R256S probably damaging Het
Enpp2 T C 15: 54,709,230 (GRCm39) D795G probably damaging Het
Fah A T 7: 84,238,120 (GRCm39) W367R probably damaging Het
Fam220a T A 5: 143,548,796 (GRCm39) H69Q probably benign Het
Fgd3 T A 13: 49,440,772 (GRCm39) T220S probably benign Het
Furin G T 7: 80,045,179 (GRCm39) H248Q probably damaging Het
Gabrg1 A T 5: 70,911,396 (GRCm39) L410Q probably damaging Het
Gm10801 AAGT AAGTAGT 2: 98,494,148 (GRCm39) probably null Het
Gm9742 T C 13: 8,080,069 (GRCm39) noncoding transcript Het
Gpcpd1 A G 2: 132,380,034 (GRCm39) S252P probably damaging Het
Hnrnpdl C T 5: 100,184,340 (GRCm39) G398S probably null Het
Hspa1l T C 17: 35,197,131 (GRCm39) V390A possibly damaging Het
Htr3b T C 9: 48,858,598 (GRCm39) S94G probably benign Het
Klf10 G T 15: 38,297,181 (GRCm39) S271R probably benign Het
Klk1b3 T A 7: 43,851,158 (GRCm39) L197Q probably damaging Het
Knl1 A G 2: 118,924,549 (GRCm39) R1861G probably damaging Het
Myo9a C T 9: 59,697,340 (GRCm39) Q374* probably null Het
Myt1l G A 12: 29,882,331 (GRCm39) G509R unknown Het
Ncapg T C 5: 45,850,578 (GRCm39) L728P probably damaging Het
Nfxl1 A C 5: 72,698,362 (GRCm39) F228V probably benign Het
Ntaq1 C A 15: 58,014,024 (GRCm39) A71E probably damaging Het
Oc90 A G 15: 65,761,560 (GRCm39) S153P probably damaging Het
Or4c123 A G 2: 89,127,198 (GRCm39) C139R probably damaging Het
Or5b105 A G 19: 13,079,745 (GRCm39) *308Q probably null Het
Pbk A T 14: 66,052,702 (GRCm39) K182* probably null Het
Piezo1 A G 8: 123,228,396 (GRCm39) F296S possibly damaging Het
Psmg1 T A 16: 95,781,244 (GRCm39) Y288F probably damaging Het
Rab11fip4 G A 11: 79,574,306 (GRCm39) D132N probably damaging Het
Recql4 T C 15: 76,588,787 (GRCm39) D1051G probably damaging Het
Reep5 A C 18: 34,490,184 (GRCm39) D104E probably damaging Het
Rnpepl1 T C 1: 92,845,403 (GRCm39) Y441H probably damaging Het
Sema3b T C 9: 107,478,047 (GRCm39) D446G probably damaging Het
Sema4d C T 13: 51,867,781 (GRCm39) R190Q probably damaging Het
Slco3a1 G A 7: 73,968,338 (GRCm39) R461C possibly damaging Het
Spmap2l T A 5: 77,209,152 (GRCm39) V458E probably benign Het
Tenm2 T A 11: 35,899,473 (GRCm39) I2562F possibly damaging Het
Tmem40 G T 6: 115,710,628 (GRCm39) N120K possibly damaging Het
Tmod3 T C 9: 75,407,405 (GRCm39) H351R probably benign Het
Tnn C T 1: 159,913,690 (GRCm39) V1268M probably damaging Het
Tpmt T A 13: 47,188,506 (GRCm39) D132V probably damaging Het
Trgc3 T C 13: 19,447,454 (GRCm39) S136P probably damaging Het
Trib1 G A 15: 59,526,324 (GRCm39) R298H probably damaging Het
Tsen2 A G 6: 115,537,036 (GRCm39) E264G probably benign Het
Urah A G 7: 140,416,711 (GRCm39) I60M probably benign Het
Vmn2r26 T A 6: 124,016,519 (GRCm39) S328T possibly damaging Het
Vmn2r27 G C 6: 124,168,958 (GRCm39) T724R probably damaging Het
Washc2 A G 6: 116,233,177 (GRCm39) probably null Het
Zfp955b T A 17: 33,521,478 (GRCm39) W316R probably benign Het
Zranb2 T C 3: 157,248,883 (GRCm39) probably null Het
Other mutations in Scnm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02964:Scnm1 APN 3 95,040,348 (GRCm39) missense probably benign 0.07
R1917:Scnm1 UTSW 3 95,037,584 (GRCm39) missense possibly damaging 0.59
R5538:Scnm1 UTSW 3 95,037,066 (GRCm39) utr 3 prime probably benign
R5888:Scnm1 UTSW 3 95,037,596 (GRCm39) missense probably benign 0.06
R5955:Scnm1 UTSW 3 95,037,596 (GRCm39) missense probably benign 0.06
R5956:Scnm1 UTSW 3 95,037,596 (GRCm39) missense probably benign 0.06
R6082:Scnm1 UTSW 3 95,037,596 (GRCm39) missense probably benign 0.06
R7182:Scnm1 UTSW 3 95,041,165 (GRCm39) missense possibly damaging 0.60
R7206:Scnm1 UTSW 3 95,041,205 (GRCm39) start codon destroyed probably null 1.00
R7605:Scnm1 UTSW 3 95,040,186 (GRCm39) missense probably benign 0.03
R8517:Scnm1 UTSW 3 95,040,134 (GRCm39) critical splice donor site probably null
Z1176:Scnm1 UTSW 3 95,037,652 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTTACAGAAGTGTGCCCCTATAAAG -3'
(R):5'- AGTTTCAAGCGCTGCTCTTC -3'

Posted On 2017-07-14