Incidental Mutation 'IGL03374:Atl1'
ID 420422
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
Is this an essential gene? Possibly non essential (E-score: 0.390) question?
Stock # IGL03374
Quality Score
Status
Chromosome 12
Chromosomal Location 69892614-69966417 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 69955367 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 367 (Y367H)
Ref Sequence ENSEMBL: ENSMUSP00000021466 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021466]
AlphaFold Q8BH66
Predicted Effect probably damaging
Transcript: ENSMUST00000021466
AA Change: Y367H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000021466
Gene: ENSMUSG00000021066
AA Change: Y367H

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox3 G A 1: 58,171,848 R917Q probably damaging Het
AW551984 T C 9: 39,599,766 E175G possibly damaging Het
Cacna2d1 T A 5: 16,356,823 D800E probably damaging Het
Cdon T A 9: 35,478,003 F801L possibly damaging Het
D10Wsu102e G A 10: 83,365,707 V115M probably damaging Het
Dcaf13 C T 15: 39,145,148 Q382* probably null Het
Dpy19l3 T C 7: 35,712,208 N367S possibly damaging Het
F11 A G 8: 45,261,074 S3P possibly damaging Het
Fam160a2 T C 7: 105,383,951 E57G probably damaging Het
Fryl A T 5: 73,110,281 probably benign Het
Gcnt3 A T 9: 70,034,413 M291K possibly damaging Het
Glg1 T C 8: 111,162,780 D927G probably damaging Het
Gm5862 C A 5: 26,019,512 R153L probably damaging Het
Gucy2c T C 6: 136,765,630 T237A probably benign Het
Helz A T 11: 107,620,147 I610F probably damaging Het
Hpd T C 5: 123,172,045 E372G probably damaging Het
Hsd17b13 A G 5: 103,977,098 probably benign Het
Klhl32 G A 4: 24,649,533 probably benign Het
Krt74 T A 15: 101,760,502 noncoding transcript Het
Olfr1015 T C 2: 85,785,709 L66P probably damaging Het
Olfr304 T A 7: 86,386,366 Q98L probably damaging Het
Phyhipl A G 10: 70,565,279 V163A possibly damaging Het
Pknox2 T A 9: 36,923,670 T168S probably damaging Het
Pmfbp1 T C 8: 109,542,414 probably benign Het
Sgce G A 6: 4,689,718 R372* probably null Het
Stard5 T C 7: 83,636,772 S102P possibly damaging Het
Syne2 A G 12: 76,074,586 K5941R possibly damaging Het
Tas2r124 A T 6: 132,755,118 H130L probably benign Het
Ttn T C 2: 76,715,683 E32462G probably damaging Het
Ube2d3 A G 3: 135,460,083 probably null Het
Vps13d G T 4: 145,108,575 H1561Q possibly damaging Het
Zcchc11 T C 4: 108,558,777 S1647P probably damaging Het
Other mutations in Atl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00824:Atl1 APN 12 69932238 missense probably damaging 0.99
IGL02035:Atl1 APN 12 69960544 unclassified probably benign
IGL02229:Atl1 APN 12 69926025 missense probably benign 0.01
IGL03282:Atl1 APN 12 69954464 missense possibly damaging 0.87
R1538:Atl1 UTSW 12 69926188 missense probably benign 0.02
R1819:Atl1 UTSW 12 69963300 missense probably benign
R1903:Atl1 UTSW 12 69959275 missense probably damaging 0.98
R1961:Atl1 UTSW 12 69953500 missense probably benign 0.00
R1990:Atl1 UTSW 12 69963328 missense probably damaging 1.00
R2126:Atl1 UTSW 12 69931657 splice site probably null
R3724:Atl1 UTSW 12 69959380 missense probably damaging 0.99
R4402:Atl1 UTSW 12 69959199 missense probably benign 0.09
R5241:Atl1 UTSW 12 69959113 missense possibly damaging 0.52
R5256:Atl1 UTSW 12 69959333 missense probably damaging 1.00
R5285:Atl1 UTSW 12 69954499 missense probably benign 0.18
R5866:Atl1 UTSW 12 69926011 missense probably damaging 0.98
R6001:Atl1 UTSW 12 69932283 missense possibly damaging 0.92
R6434:Atl1 UTSW 12 69959425 nonsense probably null
R6677:Atl1 UTSW 12 69953444 missense probably damaging 0.99
R6728:Atl1 UTSW 12 69947550 missense possibly damaging 0.95
R6974:Atl1 UTSW 12 69926039 missense probably damaging 0.99
R7013:Atl1 UTSW 12 69953440 missense probably damaging 1.00
R7121:Atl1 UTSW 12 69931634 missense probably damaging 0.99
R7224:Atl1 UTSW 12 69955353 missense probably benign
R7437:Atl1 UTSW 12 69931622 missense probably benign 0.37
R8043:Atl1 UTSW 12 69959215 missense probably damaging 1.00
R8319:Atl1 UTSW 12 69955319 missense probably damaging 0.99
R8843:Atl1 UTSW 12 69926148 missense probably damaging 0.98
Z1176:Atl1 UTSW 12 69937075 missense possibly damaging 0.78
Posted On 2016-08-02