Incidental Mutation 'R1629:Smn1'
ID 172691
Institutional Source Beutler Lab
Gene Symbol Smn1
Ensembl Gene ENSMUSG00000021645
Gene Name survival motor neuron 1
Synonyms SMN
MMRRC Submission 039666-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1629 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 100261360-100274198 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 100264404 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Asparagine at position 45 (T45N)
Ref Sequence ENSEMBL: ENSMUSP00000119381 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022147] [ENSMUST00000091321] [ENSMUST00000140745] [ENSMUST00000143937]
AlphaFold P97801
Predicted Effect probably damaging
Transcript: ENSMUST00000022147
AA Change: T119N

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000022147
Gene: ENSMUSG00000021645
AA Change: T119N

DomainStartEndE-ValueType
PDB:3S6N|M 23 59 3e-18 PDB
low complexity region 70 82 N/A INTRINSIC
TUDOR 87 146 7.06e-17 SMART
low complexity region 188 246 N/A INTRINSIC
PDB:4GLI|A 247 287 1e-13 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000091321
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125572
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134514
Predicted Effect probably benign
Transcript: ENSMUST00000140745
Predicted Effect probably damaging
Transcript: ENSMUST00000143937
AA Change: T45N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000119381
Gene: ENSMUSG00000021645
AA Change: T45N

DomainStartEndE-ValueType
TUDOR 13 72 6.15e-17 SMART
low complexity region 114 158 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151389
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147306
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.5%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygotes for targeted null mutations exhibit cell loss and peri-implantation lethality. Muscle-specific KO mice show muscle necrosis leading to paralysis and death. Neuron-specific KO mice show muscle degeneration associated with loss of motor axons. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts19 A C 18: 59,087,691 (GRCm39) I574L probably damaging Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
BC005624 T C 2: 30,864,020 (GRCm39) E191G probably damaging Het
Cbx2 A G 11: 118,919,806 (GRCm39) D457G probably damaging Het
Ccdc110 A G 8: 46,395,164 (GRCm39) K352E probably benign Het
Cdk14 A T 5: 5,153,807 (GRCm39) H183Q probably benign Het
Cfap58 A G 19: 47,929,778 (GRCm39) T80A probably benign Het
Cftr C T 6: 18,226,105 (GRCm39) T351I probably damaging Het
Col27a1 A G 4: 63,248,100 (GRCm39) probably benign Het
Cp T A 3: 20,020,614 (GRCm39) probably null Het
Cpne8 A T 15: 90,456,175 (GRCm39) V196E probably benign Het
Dmxl1 T G 18: 49,992,353 (GRCm39) probably null Het
Dnm2 T A 9: 21,415,754 (GRCm39) L642Q probably damaging Het
Dock2 G T 11: 34,212,480 (GRCm39) probably null Het
Dock9 A G 14: 121,780,986 (GRCm39) F2091L possibly damaging Het
Eaf2 A G 16: 36,645,063 (GRCm39) V53A probably damaging Het
Fbl G T 7: 27,874,212 (GRCm39) probably benign Het
Fbn2 T C 18: 58,159,610 (GRCm39) D2373G probably damaging Het
Gbp2b A G 3: 142,316,735 (GRCm39) Y462C possibly damaging Het
Il1rl2 T A 1: 40,396,020 (GRCm39) F348I probably benign Het
Khdc1a T A 1: 21,421,121 (GRCm39) I102N possibly damaging Het
Klhl11 T C 11: 100,355,012 (GRCm39) T270A probably benign Het
Lama1 T C 17: 68,112,423 (GRCm39) S2288P probably benign Het
Lrfn4 T C 19: 4,663,523 (GRCm39) E337G possibly damaging Het
Macf1 C A 4: 123,402,208 (GRCm39) E549* probably null Het
Mmp3 G T 9: 7,447,641 (GRCm39) V209F probably benign Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Myh9 G A 15: 77,648,601 (GRCm39) R1725W probably damaging Het
Nbea A T 3: 55,910,312 (GRCm39) D1294E possibly damaging Het
Nrcam G A 12: 44,610,769 (GRCm39) A496T probably benign Het
Nufip2 A G 11: 77,583,834 (GRCm39) T583A probably benign Het
Or5m3b A G 2: 85,871,766 (GRCm39) T36A probably damaging Het
Ppig C A 2: 69,566,217 (GRCm39) T128K probably damaging Het
Ppp2r2a A T 14: 67,257,208 (GRCm39) C341S possibly damaging Het
Ptpre A T 7: 135,271,528 (GRCm39) D374V probably damaging Het
Ranbp3l A C 15: 9,065,068 (GRCm39) Q485P probably damaging Het
Rapgef6 TG TGG 11: 54,437,223 (GRCm39) probably null Het
Slc1a7 A G 4: 107,865,340 (GRCm39) Y276C probably damaging Het
Smarcad1 A G 6: 65,044,091 (GRCm39) D221G probably benign Het
Son T C 16: 91,454,510 (GRCm39) S1086P probably damaging Het
Ssmem1 T A 6: 30,512,491 (GRCm39) Y45N possibly damaging Het
Tasor2 T C 13: 3,624,121 (GRCm39) H1943R possibly damaging Het
Tmem184c A C 8: 78,329,551 (GRCm39) F170V possibly damaging Het
Tmem184c A T 8: 78,332,791 (GRCm39) probably null Het
Vmn1r59 C T 7: 5,457,466 (GRCm39) C98Y probably damaging Het
Vmn2r23 T A 6: 123,690,386 (GRCm39) S421T probably benign Het
Vmn2r98 T C 17: 19,287,645 (GRCm39) S493P possibly damaging Het
Other mutations in Smn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02377:Smn1 APN 13 100,272,192 (GRCm39) unclassified probably benign
IGL02932:Smn1 APN 13 100,264,472 (GRCm39) missense probably benign 0.40
IGL03325:Smn1 APN 13 100,264,365 (GRCm39) missense probably damaging 1.00
R0907:Smn1 UTSW 13 100,264,404 (GRCm39) missense probably damaging 0.99
R1573:Smn1 UTSW 13 100,263,118 (GRCm39) missense probably damaging 1.00
R4898:Smn1 UTSW 13 100,268,931 (GRCm39) missense probably damaging 1.00
R5082:Smn1 UTSW 13 100,273,890 (GRCm39) splice site probably benign
R5902:Smn1 UTSW 13 100,263,412 (GRCm39) missense probably benign 0.00
R6276:Smn1 UTSW 13 100,264,503 (GRCm39) missense possibly damaging 0.66
R6481:Smn1 UTSW 13 100,265,008 (GRCm39) splice site probably null
R6758:Smn1 UTSW 13 100,268,946 (GRCm39) missense possibly damaging 0.88
R7114:Smn1 UTSW 13 100,267,648 (GRCm39) missense probably benign
R7378:Smn1 UTSW 13 100,264,373 (GRCm39) missense probably damaging 0.99
R8178:Smn1 UTSW 13 100,267,303 (GRCm39) splice site probably null
R9710:Smn1 UTSW 13 100,272,210 (GRCm39) missense possibly damaging 0.88
Z1177:Smn1 UTSW 13 100,263,125 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TAGCCATTCATCAGGCCGGGAAAAG -3'
(R):5'- CTTCGTGCGTCAACGTGACAAC -3'

Sequencing Primer
(F):5'- GACTGGAATTACACTTGGAGAACTG -3'
(R):5'- CGTCAACGTGACAACTGATTC -3'
Posted On 2014-04-24