Incidental Mutation 'IGL00824:Atl1'
ID 9122
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 # IGL00824
Quality Score
Status
Chromosome 12
Chromosomal Location 69939879-70010859 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 69979012 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 147 (T147A)
Ref Sequence ENSEMBL: ENSMUSP00000021466 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021466] [ENSMUST00000223456]
AlphaFold Q8BH66
Predicted Effect probably damaging
Transcript: ENSMUST00000021466
AA Change: T147A

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000021466
Gene: ENSMUSG00000021066
AA Change: T147A

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
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: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cdh17 A G 4: 11,784,675 (GRCm39) K277R probably benign Het
Cyp2j5 A G 4: 96,552,160 (GRCm39) F30L probably benign Het
Hmcn1 A T 1: 150,532,485 (GRCm39) V3134E probably damaging Het
Il2ra T C 2: 11,687,910 (GRCm39) V230A probably benign Het
Mgst2 C T 3: 51,589,999 (GRCm39) P146S probably benign Het
Myrfl T C 10: 116,685,264 (GRCm39) probably benign Het
Nat8f5 A C 6: 85,794,279 (GRCm39) L227R probably damaging Het
Osbpl2 G A 2: 179,792,060 (GRCm39) V255M probably benign Het
Papln A G 12: 83,817,210 (GRCm39) S27G possibly damaging Het
Paqr7 A G 4: 134,234,278 (GRCm39) Y45C probably damaging Het
Pkhd1 A G 1: 20,151,408 (GRCm39) probably null Het
Plrg1 C T 3: 82,975,642 (GRCm39) T295I probably damaging Het
Spata31e2 T C 1: 26,722,670 (GRCm39) I837V possibly damaging Het
Sypl1 T A 12: 33,015,505 (GRCm39) probably benign Het
Tmco3 T A 8: 13,342,825 (GRCm39) V187E probably damaging Het
Trmt2b T C X: 133,168,154 (GRCm39) I47M possibly damaging Het
Vmn2r61 T A 7: 41,916,438 (GRCm39) N350K probably benign Het
Zfp687 A G 3: 94,916,496 (GRCm39) L842P probably damaging Het
Other mutations in Atl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2012-12-06