Incidental Mutation 'R7013:Atl1'
ID 545143
Institutional Source Beutler Lab
Gene Symbol Atl1
Ensembl Gene ENSMUSG00000021066
Gene Name atlastin GTPase 1
Synonyms AD-FSP, Spg3a, FSP1, SPG3
MMRRC Submission 045114-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.318) question?
Stock # R7013 (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 70000214 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 288 (E288G)
Ref Sequence ENSEMBL: ENSMUSP00000021466 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021466]
AlphaFold Q8BH66
Predicted Effect probably damaging
Transcript: ENSMUST00000021466
AA Change: E288G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000021466
Gene: ENSMUSG00000021066
AA Change: E288G

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (47/47)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,618,345 (GRCm39) I213V probably null Het
Abcc4 A T 14: 118,763,755 (GRCm39) C952S probably benign Het
Adhfe1 T C 1: 9,620,816 (GRCm39) probably benign Het
Apob T A 12: 8,060,080 (GRCm39) L2854* probably null Het
Arhgap5 T A 12: 52,565,109 (GRCm39) N693K probably benign Het
Arid5b A G 10: 67,933,649 (GRCm39) V508A probably damaging Het
Bank1 A G 3: 135,806,270 (GRCm39) S455P possibly damaging Het
Ces1c A T 8: 93,857,392 (GRCm39) L63Q probably damaging Het
Crmp1 A T 5: 37,426,036 (GRCm39) probably null Het
Csnka2ip T C 16: 64,298,780 (GRCm39) D528G unknown Het
Dact2 T C 17: 14,423,796 (GRCm39) T66A probably benign Het
Dkk2 T C 3: 131,880,760 (GRCm39) L135P probably damaging Het
Drc3 A G 11: 60,278,129 (GRCm39) N381S probably benign Het
Dsg4 T C 18: 20,591,578 (GRCm39) V439A possibly damaging Het
Dysf C T 6: 84,114,340 (GRCm39) P1240S probably damaging Het
Esyt1 A T 10: 128,361,520 (GRCm39) V58E probably damaging Het
Exo1 G T 1: 175,721,338 (GRCm39) A326S probably damaging Het
Fam20b A G 1: 156,518,135 (GRCm39) S220P probably damaging Het
Fmo6 G A 1: 162,745,817 (GRCm39) T402I probably benign Het
Galnt10 A T 11: 57,656,410 (GRCm39) D198V probably benign Het
Gsap A T 5: 21,483,108 (GRCm39) E604D probably benign Het
Il20rb A G 9: 100,343,481 (GRCm39) Y258H probably benign Het
Impg1 A T 9: 80,285,776 (GRCm39) S409R probably damaging Het
Jak3 G T 8: 72,131,425 (GRCm39) V97F possibly damaging Het
Lbhd1 T C 19: 8,861,523 (GRCm39) S52P probably damaging Het
Lman2l A G 1: 36,482,599 (GRCm39) probably benign Het
Lnpep C A 17: 17,788,625 (GRCm39) M493I probably benign Het
Mpp4 T C 1: 59,188,774 (GRCm39) D132G probably damaging Het
Nlrp1a G A 11: 71,014,378 (GRCm39) R291W probably benign Het
Or1e23 G T 11: 73,407,247 (GRCm39) Y259* probably null Het
Or4a79 T A 2: 89,551,730 (GRCm39) I242F probably benign Het
Or4b13 C T 2: 90,082,441 (GRCm39) R297Q possibly damaging Het
Or4f15 G A 2: 111,814,308 (GRCm39) A37V probably benign Het
Or4n4b T A 14: 50,536,656 (GRCm39) I37F probably damaging Het
Orc5 A G 5: 22,738,787 (GRCm39) V158A probably benign Het
Pate8 C A 9: 36,493,854 (GRCm39) W26C unknown Het
Pcdhga3 A G 18: 37,808,674 (GRCm39) N376D probably damaging Het
Ptprr T A 10: 116,072,659 (GRCm39) I207N probably damaging Het
Recql5 A G 11: 115,785,402 (GRCm39) V698A probably benign Het
Rnf212 A T 5: 108,877,826 (GRCm39) M222K probably benign Het
Rsph6a A G 7: 18,788,820 (GRCm39) S51G probably benign Het
Smap2 T C 4: 120,839,365 (GRCm39) K121E probably damaging Het
Syt11 A T 3: 88,655,296 (GRCm39) V335D possibly damaging Het
Terb1 A T 8: 105,215,222 (GRCm39) C251* probably null Het
Tmprss11d C A 5: 86,474,432 (GRCm39) R37L probably damaging Het
Ttbk2 T C 2: 120,576,265 (GRCm39) N904S possibly damaging Het
Vmn1r119 T A 7: 20,745,714 (GRCm39) I223F probably damaging Het
Vmn1r66 T C 7: 10,008,683 (GRCm39) R117G possibly damaging Het
Zfp106 T C 2: 120,362,113 (GRCm39) D1025G probably 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
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
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 2019-05-13