Incidental Mutation 'R6758:Smn1'
ID 531115
Institutional Source Beutler Lab
Gene Symbol Smn1
Ensembl Gene ENSMUSG00000021645
Gene Name survival motor neuron 1
Synonyms SMN
MMRRC Submission 044874-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6758 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 100261360-100274198 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 100268946 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold P97801
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

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

DomainStartEndE-ValueType
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
Ankrd17 A T 5: 90,411,172 (GRCm39) D1374E probably damaging Het
Cd96 C A 16: 45,938,367 (GRCm39) V33L possibly damaging Het
Drd1 T C 13: 54,207,308 (GRCm39) E295G probably benign Het
Fzd8 T A 18: 9,213,238 (GRCm39) C107S possibly damaging Het
Gm10801 C CGTG 2: 98,494,152 (GRCm39) probably null Het
Gm11595 C A 11: 99,663,366 (GRCm39) V105L unknown Het
Gm11595 A T 11: 99,663,367 (GRCm39) C104* probably null Het
Igsf3 T C 3: 101,332,814 (GRCm39) Y31H probably damaging Het
Ikzf2 A T 1: 69,578,059 (GRCm39) H483Q probably damaging Het
Itgbl1 A G 14: 124,094,901 (GRCm39) K309E probably benign Het
Myt1l T G 12: 29,892,599 (GRCm39) Y79D possibly damaging Het
Nid2 T A 14: 19,852,551 (GRCm39) S1086R probably damaging Het
Or1o1 A G 17: 37,716,586 (GRCm39) D49G probably damaging Het
Or5h24 T C 16: 58,919,328 (GRCm39) E9G probably damaging Het
Or6c65 T C 10: 129,603,920 (GRCm39) I185T probably damaging Het
Rorc A G 3: 94,294,825 (GRCm39) N51S possibly damaging Het
Sanbr T C 11: 23,538,475 (GRCm39) probably null Het
Simc1 C T 13: 54,673,361 (GRCm39) P570S possibly damaging Het
Tiam2 A G 17: 3,568,678 (GRCm39) D1608G probably benign Het
Tll1 C A 8: 64,494,439 (GRCm39) probably null Het
Trim15 A G 17: 37,173,233 (GRCm39) L284P probably benign 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
R1629:Smn1 UTSW 13 100,264,404 (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
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'- TGGCTTTCTTCCAGTGCTAG -3'
(R):5'- ATCACACTCAGGAGGAATGATG -3'

Sequencing Primer
(F):5'- CTCATTGAGTTTAGGAAAAGGTTCAG -3'
(R):5'- AGGAATGATGAAAGAAGTATTGTCC -3'
Posted On 2018-08-01