Incidental Mutation 'R6758:Smn1'
Institutional Source Beutler Lab
Gene Symbol Smn1
Ensembl Gene ENSMUSG00000021645
Gene Namesurvival motor neuron 1
MMRRC Submission
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R6758 (G1)
Quality Score225.009
Status Not validated
Chromosomal Location100124852-100137690 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 100132438 bp
Amino Acid Change Methionine to Lysine at position 264 (M264K)
Ref Sequence ENSEMBL: ENSMUSP00000022147 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022147] [ENSMUST00000091321] [ENSMUST00000140745] [ENSMUST00000143937]
Predicted Effect possibly damaging
Transcript: ENSMUST00000022147
AA Change: M264K

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000022147
Gene: ENSMUSG00000021645
AA Change: M264K

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: ENSMUST00000135355
Predicted Effect probably benign
Transcript: ENSMUST00000140745
Predicted Effect probably benign
Transcript: ENSMUST00000143937
SMART Domains Protein: ENSMUSP00000119381
Gene: ENSMUSG00000021645

TUDOR 13 72 6.15e-17 SMART
low complexity region 114 158 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147306
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151389
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.9%
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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610010F05Rik T C 11: 23,588,475 probably null Het
Ankrd17 A T 5: 90,263,313 D1374E probably damaging Het
Cd96 C A 16: 46,118,004 V33L possibly damaging Het
Drd1 T C 13: 54,053,289 E295G probably benign Het
Fzd8 T A 18: 9,213,238 C107S possibly damaging Het
Gm10801 C CGTG 2: 98,663,807 probably null Het
Gm11595 C A 11: 99,772,540 V105L unknown Het
Gm11595 A T 11: 99,772,541 C104* probably null Het
Igsf3 T C 3: 101,425,498 Y31H probably damaging Het
Ikzf2 A T 1: 69,538,900 H483Q probably damaging Het
Itgbl1 A G 14: 123,857,489 K309E probably benign Het
Myt1l T G 12: 29,842,600 Y79D possibly damaging Het
Nid2 T A 14: 19,802,483 S1086R probably damaging Het
Olfr107 A G 17: 37,405,695 D49G probably damaging Het
Olfr192 T C 16: 59,098,965 E9G probably damaging Het
Olfr808 T C 10: 129,768,051 I185T probably damaging Het
Rorc A G 3: 94,387,518 N51S possibly damaging Het
Simc1 C T 13: 54,525,548 P570S possibly damaging Het
Tiam2 A G 17: 3,518,403 D1608G probably benign Het
Tll1 C A 8: 64,041,405 probably null Het
Trim15 A G 17: 36,862,341 L284P probably benign Het
Other mutations in Smn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02377:Smn1 APN 13 100135684 unclassified probably benign
IGL02932:Smn1 APN 13 100127964 missense probably benign 0.40
IGL03325:Smn1 APN 13 100127857 missense probably damaging 1.00
R0907:Smn1 UTSW 13 100127896 missense probably damaging 0.99
R1573:Smn1 UTSW 13 100126610 missense probably damaging 1.00
R1629:Smn1 UTSW 13 100127896 missense probably damaging 1.00
R4898:Smn1 UTSW 13 100132423 missense probably damaging 1.00
R5082:Smn1 UTSW 13 100137382 splice site probably benign
R5902:Smn1 UTSW 13 100126904 missense probably benign 0.00
R6276:Smn1 UTSW 13 100127995 missense possibly damaging 0.66
R6481:Smn1 UTSW 13 100128500 splice site probably null
R7114:Smn1 UTSW 13 100131140 missense probably benign
R7378:Smn1 UTSW 13 100127865 missense probably damaging 0.99
R8178:Smn1 UTSW 13 100130795 splice site probably null
Z1177:Smn1 UTSW 13 100126617 missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On2018-08-01