Incidental Mutation 'IGL02667:Atl3'
ID302785
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atl3
Ensembl Gene ENSMUSG00000024759
Gene Nameatlastin GTPase 3
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02667
Quality Score
Status
Chromosome19
Chromosomal Location7494040-7538608 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 7509416 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 39 (F39L)
Ref Sequence ENSEMBL: ENSMUSP00000025668 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025668] [ENSMUST00000170373]
Predicted Effect possibly damaging
Transcript: ENSMUST00000025668
AA Change: F39L

PolyPhen 2 Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000025668
Gene: ENSMUSG00000024759
AA Change: F39L

DomainStartEndE-ValueType
Pfam:GBP 36 310 7.2e-99 PFAM
Pfam:GBP_C 312 438 1.7e-9 PFAM
transmembrane domain 444 466 N/A INTRINSIC
transmembrane domain 468 490 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000170373
AA Change: F34L

PolyPhen 2 Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000132619
Gene: ENSMUSG00000024759
AA Change: F34L

DomainStartEndE-ValueType
Pfam:GBP 31 305 9.1e-98 PFAM
Pfam:GBP_C 307 433 7.4e-10 PFAM
transmembrane domain 439 461 N/A INTRINSIC
transmembrane domain 463 485 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of dynamin-like, integral membrane GTPases. The encoded protein is required for the proper formation of the network of interconnected tubules of the endoplasmic reticulum. Mutations in this gene may be associated with hereditary sensory neuropathy type IF. Alternatively spliced transcript variants that encode distinct isoforms have been described. [provided by RefSeq, Feb 2014]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6530409C15Rik A G 6: 28,217,671 noncoding transcript Het
Akr1e1 G A 13: 4,595,667 P174L possibly damaging Het
Arf5 C A 6: 28,425,199 N95K probably damaging Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
Cyp2a12 T C 7: 27,031,158 S183P probably damaging Het
Dicer1 T A 12: 104,714,906 R449S probably damaging Het
Dlec1 T C 9: 119,127,466 I736T probably benign Het
Eny2 T A 15: 44,429,588 M12K possibly damaging Het
Fbxl21 C T 13: 56,537,129 R349C probably benign Het
Gstm2 A G 3: 107,986,108 L13P probably damaging Het
Gucy2g G A 19: 55,206,177 T936M possibly damaging Het
Mbp G T 18: 82,554,615 K12N probably damaging Het
Mon1b G T 8: 113,638,823 R261L possibly damaging Het
Myo18a A G 11: 77,857,852 probably benign Het
Nr2f2 T C 7: 70,357,985 S117G probably damaging Het
Pi4k2b T C 5: 52,750,605 probably benign Het
Pi4ka A G 16: 17,295,461 F1504L possibly damaging Het
Ppm1d T C 11: 85,332,285 W239R probably damaging Het
Setd1b T A 5: 123,157,497 S1043T unknown Het
Tgfbrap1 T C 1: 43,067,620 I298V probably benign Het
Tmem190 T A 7: 4,783,158 D20E probably benign Het
Tph2 A T 10: 115,080,045 C408S probably benign Het
Trmt44 A C 5: 35,571,052 Y295D probably damaging Het
Trpm2 C T 10: 77,935,942 R621H probably damaging Het
Ubn1 A G 16: 5,062,599 E134G probably damaging Het
Zcchc11 T C 4: 108,558,708 probably benign Het
Other mutations in Atl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0042:Atl3 UTSW 19 7529023 missense probably damaging 1.00
R0607:Atl3 UTSW 19 7529666 critical splice donor site probably null
R0975:Atl3 UTSW 19 7521135 nonsense probably null
R1582:Atl3 UTSW 19 7516899 missense probably damaging 1.00
R4195:Atl3 UTSW 19 7518546 missense possibly damaging 0.59
R4249:Atl3 UTSW 19 7532338 missense probably benign 0.06
R4505:Atl3 UTSW 19 7520819 missense probably benign 0.00
R4836:Atl3 UTSW 19 7509545 nonsense probably null
R5649:Atl3 UTSW 19 7532227 missense possibly damaging 0.50
R5721:Atl3 UTSW 19 7529011 missense probably benign 0.00
R6459:Atl3 UTSW 19 7520798 missense probably benign 0.07
R6530:Atl3 UTSW 19 7522134 missense probably benign
R6543:Atl3 UTSW 19 7510098 missense probably damaging 1.00
R6550:Atl3 UTSW 19 7522138 missense probably benign
R7059:Atl3 UTSW 19 7533968 missense probably benign
R7059:Atl3 UTSW 19 7533969 missense probably benign 0.08
R7220:Atl3 UTSW 19 7529068 missense probably null 0.02
X0020:Atl3 UTSW 19 7530569 missense probably benign 0.00
Posted On2015-04-16