Incidental Mutation 'IGL03127:Atl2'
ID 410189
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atl2
Ensembl Gene ENSMUSG00000059811
Gene Name atlastin GTPase 2
Synonyms Arl6ip2, 2010110I21Rik, Aip-2
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03127
Quality Score
Status
Chromosome 17
Chromosomal Location 80155819-80203552 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 80160283 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 264 (M264V)
Ref Sequence ENSEMBL: ENSMUSP00000108056 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068282] [ENSMUST00000112437] [ENSMUST00000222193] [ENSMUST00000222415]
AlphaFold Q6PA06
Predicted Effect probably damaging
Transcript: ENSMUST00000068282
AA Change: M435V

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000064758
Gene: ENSMUSG00000059811
AA Change: M435V

DomainStartEndE-ValueType
low complexity region 9 22 N/A INTRINSIC
Pfam:GBP 70 341 3.9e-105 PFAM
low complexity region 377 390 N/A INTRINSIC
Blast:HAMP 495 545 4e-8 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000112437
AA Change: M264V

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000108056
Gene: ENSMUSG00000059811
AA Change: M264V

DomainStartEndE-ValueType
Pfam:GBP 1 170 6.6e-69 PFAM
Pfam:GBP_C 172 302 2.7e-8 PFAM
Blast:HAMP 324 374 3e-8 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221286
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221666
Predicted Effect probably benign
Transcript: ENSMUST00000222193
Predicted Effect probably benign
Transcript: ENSMUST00000222415
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223273
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1b A G 15: 101,100,959 (GRCm39) R374G probably damaging Het
Amdhd2 A G 17: 24,376,712 (GRCm39) probably null Het
Apol7c A G 15: 77,410,106 (GRCm39) M280T probably benign Het
Ccdc141 C T 2: 76,859,579 (GRCm39) probably null Het
Dtx4 T C 19: 12,463,864 (GRCm39) probably benign Het
Dyrk4 G A 6: 126,874,134 (GRCm39) T152I possibly damaging Het
F5 T A 1: 164,021,107 (GRCm39) I1194N probably benign Het
Gadl1 C T 9: 115,777,732 (GRCm39) T126M probably damaging Het
Gcnt7 A T 2: 172,296,331 (GRCm39) C110* probably null Het
H2-M9 C T 17: 36,951,714 (GRCm39) V254M possibly damaging Het
Hadha A T 5: 30,339,184 (GRCm39) probably benign Het
Kit T C 5: 75,801,848 (GRCm39) M621T probably benign Het
Krt73 T C 15: 101,704,275 (GRCm39) M422V probably benign Het
Neil2 T C 14: 63,429,257 (GRCm39) H12R probably benign Het
Nrsn1 A G 13: 25,437,700 (GRCm39) L76P probably damaging Het
Or2y1g T G 11: 49,171,599 (GRCm39) V208G possibly damaging Het
Or8b1 C A 9: 38,399,882 (GRCm39) Q186K probably benign Het
Or8d2 T A 9: 38,759,505 (GRCm39) Y32N probably damaging Het
Pot1a G A 6: 25,794,615 (GRCm39) A23V probably benign Het
Ppp1r14d A G 2: 119,048,841 (GRCm39) *147Q probably null Het
Ptger2 T C 14: 45,239,462 (GRCm39) probably benign Het
Syne3 A T 12: 104,909,687 (GRCm39) D716E probably benign Het
Tbc1d9 A G 8: 83,976,102 (GRCm39) N554D probably damaging Het
Ushbp1 T A 8: 71,847,020 (GRCm39) Q204L possibly damaging Het
Other mutations in Atl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02135:Atl2 APN 17 80,167,214 (GRCm39) critical splice donor site probably null
IGL02692:Atl2 APN 17 80,172,482 (GRCm39) missense probably benign
IGL03377:Atl2 APN 17 80,172,519 (GRCm39) missense probably damaging 1.00
R0164:Atl2 UTSW 17 80,161,260 (GRCm39) unclassified probably benign
R1203:Atl2 UTSW 17 80,160,334 (GRCm39) missense probably damaging 0.99
R1489:Atl2 UTSW 17 80,160,135 (GRCm39) missense probably benign 0.00
R1663:Atl2 UTSW 17 80,172,140 (GRCm39) missense probably damaging 1.00
R1977:Atl2 UTSW 17 80,160,019 (GRCm39) missense probably damaging 1.00
R2032:Atl2 UTSW 17 80,203,373 (GRCm39) missense probably benign
R4063:Atl2 UTSW 17 80,157,588 (GRCm39) makesense probably null
R5104:Atl2 UTSW 17 80,160,046 (GRCm39) missense probably benign 0.01
R5201:Atl2 UTSW 17 80,172,580 (GRCm39) missense probably benign
R5362:Atl2 UTSW 17 80,168,890 (GRCm39) missense probably damaging 1.00
R5387:Atl2 UTSW 17 80,160,229 (GRCm39) missense probably benign 0.03
R6128:Atl2 UTSW 17 80,172,470 (GRCm39) critical splice donor site probably null
R6369:Atl2 UTSW 17 80,161,984 (GRCm39) missense probably damaging 0.96
R6416:Atl2 UTSW 17 80,157,652 (GRCm39) missense probably benign 0.00
R6597:Atl2 UTSW 17 80,160,195 (GRCm39) missense possibly damaging 0.68
R6885:Atl2 UTSW 17 80,159,982 (GRCm39) missense probably damaging 1.00
R7428:Atl2 UTSW 17 80,183,227 (GRCm39) splice site probably null
R7587:Atl2 UTSW 17 80,172,496 (GRCm39) missense probably benign 0.25
R7646:Atl2 UTSW 17 80,162,036 (GRCm39) missense probably damaging 1.00
R7781:Atl2 UTSW 17 80,167,260 (GRCm39) missense probably damaging 1.00
R7949:Atl2 UTSW 17 80,167,289 (GRCm39) missense probably damaging 1.00
R8170:Atl2 UTSW 17 80,163,690 (GRCm39) missense possibly damaging 0.95
R8313:Atl2 UTSW 17 80,160,033 (GRCm39) nonsense probably null
R8878:Atl2 UTSW 17 80,160,232 (GRCm39) missense probably benign 0.05
R8899:Atl2 UTSW 17 80,183,469 (GRCm39) missense probably benign 0.01
R9335:Atl2 UTSW 17 80,160,207 (GRCm39) missense probably benign 0.00
X0052:Atl2 UTSW 17 80,160,046 (GRCm39) missense possibly damaging 0.94
Posted On 2016-08-02