Incidental Mutation 'IGL03282:Atl1'
ID 415618
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atl1
Ensembl Gene ENSMUSG00000021066
Gene Name atlastin GTPase 1
Synonyms AD-FSP, Spg3a, FSP1, SPG3
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.318) question?
Stock # IGL03282
Quality Score
Status
Chromosome 12
Chromosomal Location 69939879-70010859 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 70001238 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 333 (I333M)
Ref Sequence ENSEMBL: ENSMUSP00000021466 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021466]
AlphaFold Q8BH66
Predicted Effect possibly damaging
Transcript: ENSMUST00000021466
AA Change: I333M

PolyPhen 2 Score 0.866 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000021466
Gene: ENSMUSG00000021066
AA Change: I333M

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
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atxn2 A G 5: 121,923,298 (GRCm39) T52A probably benign Het
Atxn7 T A 14: 14,100,564 (GRCm38) L750H probably damaging Het
Cadps T C 14: 12,465,856 (GRCm38) probably benign Het
Cts6 T A 13: 61,344,261 (GRCm39) I264F possibly damaging Het
Dnah6 G T 6: 73,030,630 (GRCm39) probably benign Het
Epg5 A G 18: 78,029,641 (GRCm39) S1335G probably benign Het
Gm10073 A T 8: 107,299,972 (GRCm39) V4D probably benign Het
Gpld1 T A 13: 25,155,391 (GRCm39) M342K probably benign Het
Herc1 T A 9: 66,358,741 (GRCm39) F2607L probably benign Het
Ighv2-9-1 T C 12: 113,733,485 (GRCm39) Y112C probably damaging Het
Itga4 A T 2: 79,155,938 (GRCm39) H968L probably damaging Het
Me1 C T 9: 86,495,649 (GRCm39) R286Q probably damaging Het
Med1 G A 11: 98,047,643 (GRCm39) T1051M probably damaging Het
Msh2 T G 17: 87,996,430 (GRCm39) D379E probably benign Het
Mup4 T A 4: 59,958,547 (GRCm39) M118L possibly damaging Het
Ostm1 A T 10: 42,574,227 (GRCm39) S152C probably damaging Het
Pla2g1b A G 5: 115,608,939 (GRCm39) N45D probably damaging Het
Rab21 A G 10: 115,134,803 (GRCm39) probably benign Het
Rapgef4 G A 2: 72,036,096 (GRCm39) probably benign Het
Slc38a8 G T 8: 120,226,455 (GRCm39) N111K probably damaging Het
Snrnp35 A G 5: 124,628,372 (GRCm39) T62A probably damaging Het
Strn3 T C 12: 51,673,992 (GRCm39) I540V probably benign Het
Tgm1 A G 14: 55,948,527 (GRCm39) V208A probably damaging Het
Vmn1r62 A T 7: 5,678,547 (GRCm39) D76V possibly damaging Het
Vmn1r90 T A 7: 14,295,426 (GRCm39) H224L probably benign Het
Vmn1r90 A T 7: 14,296,093 (GRCm39) S2T possibly damaging 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
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
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
Posted On 2016-08-02