Incidental Mutation 'R6276:Smn1'
ID 507667
Institutional Source Beutler Lab
Gene Symbol Smn1
Ensembl Gene ENSMUSG00000021645
Gene Name survival motor neuron 1
Synonyms SMN
MMRRC Submission 044446-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6276 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 100261360-100274198 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 100264503 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 78 (N78S)
Ref Sequence ENSEMBL: ENSMUSP00000119381 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022147] [ENSMUST00000091321] [ENSMUST00000140745] [ENSMUST00000143937]
AlphaFold P97801
Predicted Effect probably benign
Transcript: ENSMUST00000022147
AA Change: N152S

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000022147
Gene: ENSMUSG00000021645
AA Change: N152S

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 possibly damaging
Transcript: ENSMUST00000143937
AA Change: N78S

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000119381
Gene: ENSMUSG00000021645
AA Change: N78S

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
Meta Mutation Damage Score 0.0988 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.3%
  • 20x: 95.5%
Validation Efficiency 100% (71/71)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr3 A T 1: 125,322,874 (GRCm39) D364E probably benign Het
Adra2c C T 5: 35,437,423 (GRCm39) T65I probably damaging Het
Agap2 T A 10: 126,925,229 (GRCm39) probably null Het
Ager T C 17: 34,817,728 (GRCm39) V126A possibly damaging Het
Arhgap39 T C 15: 76,621,736 (GRCm39) I288M probably benign Het
Arhgap45 A T 10: 79,862,068 (GRCm39) S541C probably benign Het
Asb4 A G 6: 5,431,043 (GRCm39) Y426C probably damaging Het
Azi2 C T 9: 117,878,406 (GRCm39) T82I probably damaging Het
Baz2b T A 2: 59,778,567 (GRCm39) R764S probably damaging Het
Ccdc146 A C 5: 21,506,338 (GRCm39) I701S probably damaging Het
Ccnq T C 11: 78,642,056 (GRCm39) K145E probably damaging Het
Cd55b T A 1: 130,345,903 (GRCm39) I172F probably damaging Het
Cdk11b A G 4: 155,718,647 (GRCm39) E199G probably benign Het
Cntnap4 A T 8: 113,478,921 (GRCm39) T216S possibly damaging Het
D5Ertd579e A T 5: 36,761,858 (GRCm39) N1336K possibly damaging Het
Dlg5 T C 14: 24,214,636 (GRCm39) N649S probably damaging Het
Dmxl1 A G 18: 49,979,653 (GRCm39) E96G probably benign Het
Dscaml1 C T 9: 45,579,458 (GRCm39) T335I possibly damaging Het
Epb41l2 G T 10: 25,378,022 (GRCm39) G695C probably damaging Het
Erbb4 C T 1: 68,599,735 (GRCm39) R114H probably damaging Het
F2rl1 G T 13: 95,650,446 (GRCm39) Y145* probably null Het
Fsip2 A T 2: 82,810,785 (GRCm39) Y2368F possibly damaging Het
Galnt7 C T 8: 57,989,612 (GRCm39) probably null Het
Garre1 A T 7: 33,941,802 (GRCm39) Y627* probably null Het
Gm6811 T A 17: 21,314,245 (GRCm39) noncoding transcript Het
Gm6811 T G 17: 21,314,952 (GRCm39) noncoding transcript Het
H2-M1 G A 17: 36,982,602 (GRCm39) T86M possibly damaging Het
Hk2 T C 6: 82,720,347 (GRCm39) D170G probably benign Het
Hmcn1 C T 1: 150,614,432 (GRCm39) A1325T possibly damaging Het
Insrr T A 3: 87,707,826 (GRCm39) Y89* probably null Het
Itga1 T C 13: 115,117,388 (GRCm39) E871G probably benign Het
Kat6a T C 8: 23,429,421 (GRCm39) L1592P possibly damaging Het
Kndc1 C A 7: 139,500,979 (GRCm39) A756E probably benign Het
Krt12 A T 11: 99,312,728 (GRCm39) C105* probably null Het
Lama1 G A 17: 68,091,083 (GRCm39) probably null Het
Lama3 A G 18: 12,640,006 (GRCm39) N67S probably benign Het
Lrrk1 A G 7: 65,956,587 (GRCm39) probably null Het
Lypd9 T A 11: 58,337,192 (GRCm39) I94L possibly damaging Het
Map2 T C 1: 66,438,578 (GRCm39) V34A probably damaging Het
Mroh6 A G 15: 75,757,549 (GRCm39) L487P probably damaging Het
Myo18b A T 5: 112,959,508 (GRCm39) S1430T probably benign Het
Notch3 G A 17: 32,373,723 (GRCm39) T495I probably benign Het
Or1e31 A T 11: 73,690,229 (GRCm39) M118K probably damaging Het
Palld C T 8: 61,966,457 (GRCm39) A980T probably damaging Het
Paxip1 A T 5: 27,966,666 (GRCm39) I620N probably damaging Het
Pcdha6 A G 18: 37,102,820 (GRCm39) probably null Het
Pcdhb11 G A 18: 37,554,813 (GRCm39) V48M probably benign Het
Pcdhga6 A G 18: 37,840,697 (GRCm39) E139G probably benign Het
Pck1 T C 2: 172,999,112 (GRCm39) V426A probably damaging Het
Pck2 T A 14: 55,780,081 (GRCm39) I110N probably damaging Het
Peg10 GAT GATCAT 6: 4,756,449 (GRCm39) probably benign Het
Phactr3 G A 2: 177,920,812 (GRCm39) E222K probably damaging Het
Ppip5k1 A T 2: 121,153,684 (GRCm39) probably benign Het
Prodh2 A G 7: 30,206,076 (GRCm39) H278R probably benign Het
Rspry1 T A 8: 95,349,886 (GRCm39) H91Q probably damaging Het
Slc13a2 CGTTATCTGT CGT 11: 78,294,306 (GRCm39) probably benign Het
Spta1 T A 1: 174,046,078 (GRCm39) I1614N probably damaging Het
Syt17 T C 7: 118,033,513 (GRCm39) D165G probably damaging Het
Tbck A G 3: 132,448,766 (GRCm39) Y593C probably damaging Het
Tcaf2 G C 6: 42,606,687 (GRCm39) F422L probably benign Het
Tex15 T A 8: 34,067,217 (GRCm39) F2216I possibly damaging Het
Trpc4 A G 3: 54,225,441 (GRCm39) E846G probably benign Het
Ttc41 T C 10: 86,580,313 (GRCm39) I753T probably benign Het
Vdac1 C T 11: 52,267,309 (GRCm39) T70M possibly damaging Het
Vmn1r124 A C 7: 20,994,104 (GRCm39) F147V probably benign Het
Vmn1r220 T C 13: 23,368,465 (GRCm39) D77G probably damaging Het
Vmn2r28 T C 7: 5,493,730 (GRCm39) H72R probably benign Het
Vmn2r78 A T 7: 86,570,318 (GRCm39) I279L probably benign Het
Vmn2r95 G T 17: 18,671,732 (GRCm39) A490S possibly damaging Het
Wdfy4 C T 14: 32,831,482 (GRCm39) A915T possibly damaging Het
Zmiz2 G T 11: 6,345,604 (GRCm39) probably null Het
Zscan2 A G 7: 80,525,557 (GRCm39) N426S 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
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'- GGAATGTTGCGTGTCCATAAC -3'
(R):5'- CGACAAGCATTCCTATGGCC -3'

Sequencing Primer
(F):5'- TGGTGACAAGTGTTCTGCTG -3'
(R):5'- AGCATTCCTATGGCCCCGAC -3'
Posted On 2018-03-15