Incidental Mutation 'R6001:Atl1'
ID 480845
Institutional Source Beutler Lab
Gene Symbol Atl1
Ensembl Gene ENSMUSG00000021066
Gene Name atlastin GTPase 1
Synonyms AD-FSP, Spg3a, FSP1, SPG3
MMRRC Submission 044180-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.318) question?
Stock # R6001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 69939879-70010859 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 69979057 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 162 (T162S)
Ref Sequence ENSEMBL: ENSMUSP00000021466 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021466] [ENSMUST00000223456]
AlphaFold Q8BH66
Predicted Effect possibly damaging
Transcript: ENSMUST00000021466
AA Change: T162S

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000021466
Gene: ENSMUSG00000021066
AA Change: T162S

DomainStartEndE-ValueType
low complexity region 15 27 N/A INTRINSIC
Pfam:GBP 43 314 2.3e-103 PFAM
low complexity region 350 363 N/A INTRINSIC
Blast:HAMP 468 519 9e-8 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083393
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222141
Predicted Effect probably benign
Transcript: ENSMUST00000223456
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.4%
  • 20x: 91.8%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the dynamin family of GTPases. The encoded protein interacts with tubule-shaping proteins of the endoplasmic reticulum. Mutations in the homologous human gene can cause hereditary spastic paraplegia. [provided by RefSeq, Feb 2010]
PHENOTYPE: Homozygous animals show a gait disturbance characterized by external rotation of the hind feet with footprint analysis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 G T 4: 53,075,555 (GRCm39) R999S possibly damaging Het
Ankrd31 T A 13: 96,962,717 (GRCm39) Y503N probably damaging Het
Anks4b A G 7: 119,781,941 (GRCm39) E324G probably benign Het
Arhgap44 CTGCT CTGCTTGCT 11: 64,922,910 (GRCm39) probably null Het
Atp2b2 A G 6: 113,770,728 (GRCm39) Y394H probably damaging Het
Dennd2d A G 3: 106,399,776 (GRCm39) H233R probably benign Het
Dhx16 G T 17: 36,194,766 (GRCm39) M462I probably damaging Het
Hif3a T C 7: 16,784,486 (GRCm39) Y253C probably damaging Het
Hsf4 G A 8: 105,999,541 (GRCm39) G277R possibly damaging Het
Impg1 T C 9: 80,223,454 (GRCm39) D754G probably benign Het
Keap1 T C 9: 21,142,135 (GRCm39) S580G possibly damaging Het
Lrp6 T C 6: 134,441,481 (GRCm39) K1162E probably benign Het
Lrrc31 C T 3: 30,745,318 (GRCm39) V110I possibly damaging Het
Muc5b G T 7: 141,426,118 (GRCm39) K4738N possibly damaging Het
Myo1a G T 10: 127,542,794 (GRCm39) probably null Het
Odad2 T C 18: 7,286,838 (GRCm39) D131G probably benign Het
Or10q1b A G 19: 13,682,424 (GRCm39) T78A probably damaging Het
Or52z14 T A 7: 103,253,179 (GRCm39) M106K probably damaging Het
Or7g19 A T 9: 18,856,340 (GRCm39) Y132F probably damaging Het
Parp4 A T 14: 56,878,740 (GRCm39) H1225L probably benign Het
Pcgf2 T C 11: 97,583,606 (GRCm39) Y52C possibly damaging Het
Pkn3 T C 2: 29,978,596 (GRCm39) probably null Het
Psen2 C A 1: 180,073,234 (GRCm39) R29L possibly damaging Het
Rfx6 A G 10: 51,594,307 (GRCm39) probably null Het
Rps13 T C 7: 115,930,808 (GRCm39) T145A probably benign Het
Rsf1 G A 7: 97,229,117 (GRCm39) probably benign Het
Rsf1 GCG GCGACG 7: 97,229,114 (GRCm39) probably benign Het
Rsf1 A ACGGCGACGG 7: 97,229,111 (GRCm39) probably null Het
Smarca4 C T 9: 21,544,205 (GRCm39) probably benign Het
Stat4 A T 1: 52,136,026 (GRCm39) E445V probably damaging Het
Taf13 T A 3: 108,488,387 (GRCm39) I90N probably damaging Het
Tas2r124 T A 6: 132,732,416 (GRCm39) Y242N probably damaging Het
Tmem151b T C 17: 45,856,711 (GRCm39) Y243C probably damaging Het
Wasl T C 6: 24,619,573 (GRCm39) T316A unknown Het
Zbtb44 T C 9: 30,965,090 (GRCm39) C167R probably damaging Het
Zc3h7b T C 15: 81,676,236 (GRCm39) L714P possibly damaging Het
Zfp35 T A 18: 24,135,816 (GRCm39) H53Q probably benign Het
Zfp804b A G 5: 6,819,043 (GRCm39) V1340A probably benign Het
Other mutations in Atl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00824:Atl1 APN 12 69,979,012 (GRCm39) missense probably damaging 0.99
IGL02035:Atl1 APN 12 70,007,318 (GRCm39) unclassified probably benign
IGL02229:Atl1 APN 12 69,972,799 (GRCm39) missense probably benign 0.01
IGL03282:Atl1 APN 12 70,001,238 (GRCm39) missense possibly damaging 0.87
IGL03374:Atl1 APN 12 70,002,141 (GRCm39) missense probably damaging 1.00
R1538:Atl1 UTSW 12 69,972,962 (GRCm39) missense probably benign 0.02
R1819:Atl1 UTSW 12 70,010,074 (GRCm39) missense probably benign
R1903:Atl1 UTSW 12 70,006,049 (GRCm39) missense probably damaging 0.98
R1961:Atl1 UTSW 12 70,000,274 (GRCm39) missense probably benign 0.00
R1990:Atl1 UTSW 12 70,010,102 (GRCm39) missense probably damaging 1.00
R2126:Atl1 UTSW 12 69,978,431 (GRCm39) splice site probably null
R3724:Atl1 UTSW 12 70,006,154 (GRCm39) missense probably damaging 0.99
R4402:Atl1 UTSW 12 70,005,973 (GRCm39) missense probably benign 0.09
R5241:Atl1 UTSW 12 70,005,887 (GRCm39) missense possibly damaging 0.52
R5256:Atl1 UTSW 12 70,006,107 (GRCm39) missense probably damaging 1.00
R5285:Atl1 UTSW 12 70,001,273 (GRCm39) missense probably benign 0.18
R5866:Atl1 UTSW 12 69,972,785 (GRCm39) missense probably damaging 0.98
R6434:Atl1 UTSW 12 70,006,199 (GRCm39) nonsense probably null
R6677:Atl1 UTSW 12 70,000,218 (GRCm39) missense probably damaging 0.99
R6728:Atl1 UTSW 12 69,994,324 (GRCm39) missense possibly damaging 0.95
R6974:Atl1 UTSW 12 69,972,813 (GRCm39) missense probably damaging 0.99
R7013:Atl1 UTSW 12 70,000,214 (GRCm39) missense probably damaging 1.00
R7121:Atl1 UTSW 12 69,978,408 (GRCm39) missense probably damaging 0.99
R7224:Atl1 UTSW 12 70,002,127 (GRCm39) missense probably benign
R7437:Atl1 UTSW 12 69,978,396 (GRCm39) missense probably benign 0.37
R8043:Atl1 UTSW 12 70,005,989 (GRCm39) missense probably damaging 1.00
R8319:Atl1 UTSW 12 70,002,093 (GRCm39) missense probably damaging 0.99
R8843:Atl1 UTSW 12 69,972,922 (GRCm39) missense probably damaging 0.98
Z1176:Atl1 UTSW 12 69,983,849 (GRCm39) missense possibly damaging 0.78
Predicted Primers PCR Primer
(F):5'- TAAAAGTGACTGTACCCAGCTGC -3'
(R):5'- GGCTACTCTTATGGAGCTGAATG -3'

Sequencing Primer
(F):5'- GTACCCAGCTGCTAATTAATATCC -3'
(R):5'- CTCTTATGGAGCTGAATGAGAACAC -3'
Posted On 2017-06-26