Incidental Mutation 'R6677:Atl1'
ID 527324
Institutional Source Beutler Lab
Gene Symbol Atl1
Ensembl Gene ENSMUSG00000021066
Gene Name atlastin GTPase 1
Synonyms AD-FSP, Spg3a, FSP1, SPG3
MMRRC Submission 044796-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.318) question?
Stock # R6677 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 69939879-70010859 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 70000218 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 289 (I289M)
Ref Sequence ENSEMBL: ENSMUSP00000021466 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021466]
AlphaFold Q8BH66
Predicted Effect probably damaging
Transcript: ENSMUST00000021466
AA Change: I289M

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000021466
Gene: ENSMUSG00000021066
AA Change: I289M

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: ENSMUST00000220935
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222141
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222246
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.7%
Validation Efficiency 100% (31/31)
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 G T 8: 87,261,381 (GRCm39) H713Q possibly damaging Het
Akap9 A G 5: 4,079,869 (GRCm39) T1874A probably benign Het
Atp12a A G 14: 56,618,311 (GRCm39) D654G probably damaging Het
Bbox1 C A 2: 110,135,770 (GRCm39) D70Y probably damaging Het
Blzf1 A T 1: 164,130,181 (GRCm39) V50D possibly damaging Het
Ccdc168 G T 1: 44,097,859 (GRCm39) R1080S probably benign Het
Cfap65 C A 1: 74,943,844 (GRCm39) D1556Y probably damaging Het
Chrm2 A T 6: 36,501,027 (GRCm39) N295Y probably damaging Het
Clca3b T A 3: 144,529,145 (GRCm39) E843V probably benign Het
Enpp3 T A 10: 24,653,855 (GRCm39) N701Y possibly damaging Het
Fbxo30 G T 10: 11,166,380 (GRCm39) L367F possibly damaging Het
Gm4841 A T 18: 60,403,652 (GRCm39) F147Y probably damaging Het
Itprid2 A G 2: 79,485,445 (GRCm39) T500A possibly damaging Het
Lama1 G A 17: 68,102,228 (GRCm39) V1951I probably benign Het
Mgat4b A G 11: 50,123,898 (GRCm39) probably null Het
Mpp3 A G 11: 101,899,444 (GRCm39) V359A probably benign Het
Nhsl1 T A 10: 18,401,610 (GRCm39) D911E probably damaging Het
Or13a23-ps1 T G 7: 140,118,465 (GRCm39) F12V probably damaging Het
Polr1b T C 2: 128,962,131 (GRCm39) probably benign Het
Qrfprl A T 6: 65,433,229 (GRCm39) I350F probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Saxo2 T C 7: 82,284,484 (GRCm39) R125G probably benign Het
Scn8a A G 15: 100,866,953 (GRCm39) D103G probably damaging Het
Sfxn2 A T 19: 46,570,967 (GRCm39) N9I possibly damaging Het
Shroom1 G A 11: 53,354,343 (GRCm39) A88T possibly damaging Het
Slc24a5 G T 2: 124,922,615 (GRCm39) A126S possibly damaging Het
Sult5a1 A G 8: 123,876,017 (GRCm39) F100L probably benign Het
Syne1 T C 10: 4,990,942 (GRCm39) Q579R possibly damaging Het
Vmn1r113 G A 7: 20,521,903 (GRCm39) G232S probably benign Het
Zic5 C G 14: 122,702,566 (GRCm39) R55P unknown 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
R6001:Atl1 UTSW 12 69,979,057 (GRCm39) missense possibly damaging 0.92
R6434:Atl1 UTSW 12 70,006,199 (GRCm39) nonsense probably null
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'- AGCCATGAATTACCTGCCC -3'
(R):5'- ATGTGAGGGGAAGTGCTCAC -3'

Sequencing Primer
(F):5'- GAGTTAGTTCAAAGCCAGCCTTG -3'
(R):5'- TGAGGGGAAGTGCTCACAAGAG -3'
Posted On 2018-07-23