Incidental Mutation 'R6481:Smn1'
ID 543429
Institutional Source Beutler Lab
Gene Symbol Smn1
Ensembl Gene ENSMUSG00000021645
Gene Name survival motor neuron 1
Synonyms SMN
MMRRC Submission 044613-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6481 (G1)
Quality Score 118.008
Status Validated
Chromosome 13
Chromosomal Location 100261360-100274198 bp(+) (GRCm39)
Type of Mutation splice site (139 bp from exon)
DNA Base Change (assembly) A to G at 100265008 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000119381 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022147] [ENSMUST00000143937]
AlphaFold P97801
Predicted Effect probably null
Transcript: ENSMUST00000022147
SMART Domains Protein: ENSMUSP00000022147
Gene: ENSMUSG00000021645

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 null
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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency 100% (82/82)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931428L18Rik T C 1: 31,261,588 (GRCm39) probably benign Het
Aadacl2fm3 T C 3: 59,768,478 (GRCm39) Y3H probably benign Het
Abca9 G A 11: 110,056,788 (GRCm39) Q11* probably null Het
Abcc9 A T 6: 142,550,621 (GRCm39) M1273K probably damaging Het
Abi2 A G 1: 60,478,098 (GRCm39) probably null Het
Acsm5 A G 7: 119,134,104 (GRCm39) E295G probably benign Het
Anapc5 T C 5: 122,938,607 (GRCm39) D389G probably benign Het
Ano3 A T 2: 110,625,372 (GRCm39) D159E probably benign Het
Arhgap26 T A 18: 39,283,110 (GRCm39) M349K probably damaging Het
Arhgef39 A G 4: 43,498,580 (GRCm39) probably null Het
Astn1 T C 1: 158,440,032 (GRCm39) S867P probably benign Het
Atad3a A T 4: 155,838,098 (GRCm39) probably null Het
Cadm1 A T 9: 47,699,407 (GRCm39) D91V probably damaging Het
Cc2d2b T C 19: 40,790,839 (GRCm39) I933T possibly damaging Het
Cdcp3 A T 7: 130,858,530 (GRCm39) D1066V probably benign Het
Celsr3 C G 9: 108,714,283 (GRCm39) N1937K possibly damaging Het
Cic A C 7: 24,987,706 (GRCm39) T558P possibly damaging Het
Cntln A G 4: 84,985,747 (GRCm39) M933V probably benign Het
Coch T C 12: 51,644,956 (GRCm39) F170S probably damaging Het
Col1a2 A G 6: 4,538,680 (GRCm39) Y1200C unknown Het
Col26a1 T C 5: 136,773,032 (GRCm39) M383V probably benign Het
Col4a4 A T 1: 82,431,499 (GRCm39) M1595K unknown Het
Crh T C 3: 19,748,501 (GRCm39) E47G probably benign Het
D930020B18Rik T C 10: 121,497,053 (GRCm39) probably null Het
Def6 G A 17: 28,445,137 (GRCm39) R482H probably benign Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Dpagt1 T C 9: 44,242,487 (GRCm39) L241P probably damaging Het
E2f7 A G 10: 110,610,542 (GRCm39) E389G probably damaging Het
Eif2b1 T C 5: 124,715,174 (GRCm39) I53V probably benign Het
Fbxo4 A G 15: 3,995,216 (GRCm39) L376P probably damaging Het
Fgfr2 A G 7: 129,787,008 (GRCm39) S352P possibly damaging Het
Fkbpl C A 17: 34,864,388 (GRCm39) P52Q possibly damaging Het
Fry G A 5: 150,309,479 (GRCm39) R641H probably damaging Het
Fsip2 A G 2: 82,820,430 (GRCm39) T5388A possibly damaging Het
Gm12728 A G 4: 105,651,546 (GRCm39) K52R probably damaging Het
Gtf2a1l A G 17: 89,019,053 (GRCm39) D379G probably benign Het
Gys1 A T 7: 45,092,393 (GRCm39) Y332F possibly damaging Het
Hoxa7 T A 6: 52,193,594 (GRCm39) probably benign Het
Ifitm1 G A 7: 140,549,519 (GRCm39) V101I probably benign Het
Kalrn T A 16: 34,181,354 (GRCm39) T95S probably damaging Het
Leng8 A G 7: 4,148,412 (GRCm39) Y728C probably damaging Het
Lonp2 G T 8: 87,361,536 (GRCm39) D238Y possibly damaging Het
Ltn1 A C 16: 87,175,868 (GRCm39) S1757A probably damaging Het
Man2a2 A T 7: 80,013,819 (GRCm39) S411T probably damaging Het
Mrps33 C A 6: 39,782,304 (GRCm39) probably null Het
Muc16 C T 9: 18,461,973 (GRCm39) probably null Het
Muc5ac A G 7: 141,362,808 (GRCm39) probably benign Het
Naip2 A C 13: 100,298,549 (GRCm39) S496A probably benign Het
Or10al6 T G 17: 38,083,194 (GRCm39) F217V probably damaging Het
Or13p8 A G 4: 118,583,930 (GRCm39) Y162C probably damaging Het
Or1j21 T A 2: 36,683,789 (GRCm39) D180E possibly damaging Het
Or4c106 A T 2: 88,682,863 (GRCm39) T190S probably damaging Het
Or55b10 A T 7: 102,143,346 (GRCm39) V212D probably damaging Het
Or5w17 T C 2: 87,583,812 (GRCm39) N175S probably damaging Het
Pag1 T A 3: 9,764,396 (GRCm39) E252D possibly damaging Het
Plcd3 T C 11: 102,968,593 (GRCm39) Y366C probably damaging Het
Psg17 A C 7: 18,548,375 (GRCm39) S465R probably damaging Het
Ptpn9 G T 9: 56,930,324 (GRCm39) V50L probably damaging Het
Rab17 T G 1: 90,886,683 (GRCm39) S190R probably benign Het
Samd11 A G 4: 156,333,535 (GRCm39) probably null Het
Slc17a5 A G 9: 78,445,553 (GRCm39) F434S possibly damaging Het
Slc22a15 A G 3: 101,790,899 (GRCm39) I202T possibly damaging Het
Slc8a1 G T 17: 81,696,347 (GRCm39) Q896K probably benign Het
Slc9a5 A T 8: 106,085,025 (GRCm39) K509* probably null Het
Slf2 A C 19: 44,961,603 (GRCm39) M1041L probably benign Het
Snx9 T C 17: 5,972,484 (GRCm39) probably null Het
Soat2 T A 15: 102,070,490 (GRCm39) L431Q probably damaging Het
Spam1 T A 6: 24,796,929 (GRCm39) N293K probably benign Het
Tatdn1 T C 15: 58,795,760 (GRCm39) T66A possibly damaging Het
Tmprss11g A T 5: 86,640,015 (GRCm39) S205T probably benign Het
Tnpo3 G T 6: 29,571,100 (GRCm39) N431K possibly damaging Het
Trim39 T C 17: 36,579,554 (GRCm39) T31A probably benign Het
Trmt9b T C 8: 36,965,637 (GRCm39) probably null Het
Tshz3 A G 7: 36,451,764 (GRCm39) probably null Het
Ttll11 G A 2: 35,792,766 (GRCm39) T359M probably damaging Het
Ttn T G 2: 76,571,843 (GRCm39) D26350A probably damaging Het
Ubr4 G T 4: 139,159,062 (GRCm39) V2472F probably damaging Het
Vsx2 C T 12: 84,639,878 (GRCm39) P265S probably benign Het
Wdr90 C T 17: 26,064,885 (GRCm39) G1708R probably damaging Het
Wnt11 A G 7: 98,502,481 (GRCm39) Y351C probably damaging Het
Xpo6 A C 7: 125,712,057 (GRCm39) N3K probably damaging Het
Zfp445 A G 9: 122,686,631 (GRCm39) S165P probably benign Het
Zfp953 A T 13: 67,496,001 (GRCm39) Y13* probably null Het
Zftraf1 T C 15: 76,542,908 (GRCm39) probably null 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
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'- CAATGCCAGGGTCAGGATTAG -3'
(R):5'- ACCCTGTACTATGCTCTGGG -3'

Sequencing Primer
(F):5'- TTAGGACCAGGAAAGGTAAATGTTC -3'
(R):5'- CCCCCATCATTTATAGATGGAGG -3'
Posted On 2018-12-11