Incidental Mutation 'R3724:Atl1'
ID 270691
Institutional Source Beutler Lab
Gene Symbol Atl1
Ensembl Gene ENSMUSG00000021066
Gene Name atlastin GTPase 1
Synonyms AD-FSP, Spg3a, FSP1, SPG3
MMRRC Submission 040715-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.318) question?
Stock # R3724 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 69939879-70010859 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 70006154 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 487 (T487A)
Ref Sequence ENSEMBL: ENSMUSP00000021466 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021466]
AlphaFold Q8BH66
Predicted Effect probably damaging
Transcript: ENSMUST00000021466
AA Change: T487A

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000021466
Gene: ENSMUSG00000021066
AA Change: T487A

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: ENSMUST00000110560
SMART Domains Protein: ENSMUSP00000106189
Gene: ENSMUSG00000079076

DomainStartEndE-ValueType
Pfam:TIP49 1 58 3.1e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220935
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222141
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222246
Meta Mutation Damage Score 0.0840 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 98% (49/50)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430548M08Rik G T 8: 120,876,099 (GRCm39) R133L probably damaging Het
Abhd8 G A 8: 71,914,136 (GRCm39) A164V probably benign Het
Api5 C T 2: 94,255,958 (GRCm39) R243Q possibly damaging Het
C2cd6 C T 1: 59,105,394 (GRCm39) probably benign Het
Ccdc88c G A 12: 100,896,783 (GRCm39) A1389V possibly damaging Het
Ccna1 T C 3: 54,958,353 (GRCm39) E110G probably damaging Het
Ccne2 T C 4: 11,203,039 (GRCm39) C386R probably benign Het
Cfap53 A G 18: 74,492,640 (GRCm39) I455V probably benign Het
Ctdp1 C T 18: 80,502,482 (GRCm39) V143I probably benign Het
Cyp11a1 A T 9: 57,926,605 (GRCm39) M47L probably benign Het
Dnah5 T C 15: 28,270,566 (GRCm39) L956P probably benign Het
Enkd1 A T 8: 106,430,557 (GRCm39) V326E possibly damaging Het
Epha4 A G 1: 77,403,180 (GRCm39) probably benign Het
Etv5 T C 16: 22,254,662 (GRCm39) D66G probably damaging Het
Evi5l A G 8: 4,228,080 (GRCm39) probably benign Het
Foxf2 A G 13: 31,814,513 (GRCm39) K409R probably damaging Het
Frem3 A G 8: 81,341,900 (GRCm39) T1398A probably benign Het
Galm A G 17: 80,490,709 (GRCm39) T289A probably benign Het
Gtdc1 T C 2: 44,646,319 (GRCm39) E44G probably damaging Het
Hmcn1 T A 1: 150,565,269 (GRCm39) Y2286F possibly damaging Het
Iars1 A G 13: 49,840,860 (GRCm39) probably null Het
Ifna5 A G 4: 88,754,171 (GRCm39) E137G probably damaging Het
Itih4 G A 14: 30,614,541 (GRCm39) E468K possibly damaging Het
Kat6a A T 8: 23,352,804 (GRCm39) H196L probably damaging Het
Kctd16 A G 18: 40,391,912 (GRCm39) T167A possibly damaging Het
Klhl29 C T 12: 5,140,603 (GRCm39) V680I probably damaging Het
Marchf7 T C 2: 60,060,089 (GRCm39) I72T probably benign Het
Mbd6 C T 10: 127,119,760 (GRCm39) probably benign Het
Mefv A G 16: 3,526,058 (GRCm39) probably null Het
Mindy3 T A 2: 12,360,165 (GRCm39) M6L probably damaging Het
Mrpl9 T A 3: 94,355,073 (GRCm39) probably null Het
Nlrp4e A T 7: 23,020,802 (GRCm39) T430S probably benign Het
Or4ac1-ps1 T G 2: 88,370,630 (GRCm39) noncoding transcript Het
Pcdh15 A T 10: 74,481,680 (GRCm39) T342S probably benign Het
Prkce A T 17: 86,476,051 (GRCm39) K11* probably null Het
Pros1 T C 16: 62,720,692 (GRCm39) I117T possibly damaging Het
Prpf38b T C 3: 108,811,656 (GRCm39) probably benign Het
Sh3rf1 T C 8: 61,825,756 (GRCm39) S584P probably benign Het
Slit2 T C 5: 48,414,225 (GRCm39) probably null Het
Srsf4 C T 4: 131,627,413 (GRCm39) probably benign Het
Stambp C T 6: 83,534,448 (GRCm39) E280K probably damaging Het
Tenm3 A G 8: 48,730,781 (GRCm39) I1329T probably damaging Het
Tex2 G A 11: 106,420,156 (GRCm39) T869I unknown Het
Tlk2 A G 11: 105,138,390 (GRCm39) T281A probably benign Het
Tpm1 G A 9: 66,939,227 (GRCm39) probably benign Het
Trim3 A G 7: 105,260,396 (GRCm39) F702L probably damaging Het
Uba6 T C 5: 86,282,906 (GRCm39) D559G probably damaging Het
Vmn2r20 T A 6: 123,362,706 (GRCm39) T693S probably benign Het
Zfand2b A G 1: 75,146,499 (GRCm39) K125E possibly damaging Het
Zfp422 C T 6: 116,603,340 (GRCm39) A220T probably benign Het
Zfp747 A T 7: 126,973,762 (GRCm39) V136D 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
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
Predicted Primers PCR Primer
(F):5'- AAGAGTTCAGCCGGCGTTAC -3'
(R):5'- GAATGGGCCCAAGTCATGTTC -3'

Sequencing Primer
(F):5'- CGTTACCTGCAGCAGCTG -3'
(R):5'- GGCCCAAGTCATGTTCACCTG -3'
Posted On 2015-03-18