Incidental Mutation 'IGL01132:Gan'
ID51808
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gan
Ensembl Gene ENSMUSG00000052557
Gene Namegiant axonal neuropathy
Synonymsgigaxonin
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.106) question?
Stock #IGL01132
Quality Score
Status
Chromosome8
Chromosomal Location117158135-117215997 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to A at 117196444 bp
ZygosityHeterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000064488]
Predicted Effect probably benign
Transcript: ENSMUST00000064488
SMART Domains Protein: ENSMUSP00000070168
Gene: ENSMUSG00000052557

DomainStartEndE-ValueType
BTB 30 129 7.1e-21 SMART
BACK 134 236 2.42e-27 SMART
Kelch 274 326 2.23e-1 SMART
Kelch 327 374 3.41e-11 SMART
Kelch 375 421 1.39e-2 SMART
Kelch 422 468 2.23e-6 SMART
Kelch 528 577 2.09e1 SMART
low complexity region 580 591 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000162997
SMART Domains Protein: ENSMUSP00000124904
Gene: ENSMUSG00000052557

DomainStartEndE-ValueType
BTB 30 129 7.1e-21 SMART
BACK 134 236 2.42e-27 SMART
Kelch 274 326 2.23e-1 SMART
Kelch 327 374 3.41e-11 SMART
Kelch 375 421 1.39e-2 SMART
Kelch 422 468 2.23e-6 SMART
Kelch 528 577 2.09e1 SMART
low complexity region 580 591 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 the cytoskeletal BTB/kelch (Broad-Complex, Tramtrack and Bric a brac) repeat family. The encoded protein plays a role in neurofilament architecture and is involved in mediating the ubiquitination and degradation of some proteins. Defects in this gene are a cause of giant axonal neuropathy (GAN). [provided by RefSeq, Oct 2008]
PHENOTYPE: Null homozygotes display some muscular atrophy and motor neuron degeneration with the severity of these symptoms depending on genotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 V124I probably damaging Het
Adcy6 T C 15: 98,597,851 N619S probably benign Het
Adgrf5 G T 17: 43,422,509 D75Y possibly damaging Het
Aldh1a7 T C 19: 20,727,040 H30R possibly damaging Het
Birc6 T C 17: 74,603,060 S1483P probably damaging Het
Cd209e T C 8: 3,851,274 T127A probably benign Het
Clmn T A 12: 104,774,551 probably null Het
Dcc A T 18: 71,682,174 Y376* probably null Het
Dscaml1 C T 9: 45,752,328 R1950* probably null Het
Eml2 A T 7: 19,200,539 S388C probably damaging Het
Ext2 C T 2: 93,791,073 M370I probably benign Het
Foxo1 C T 3: 52,345,159 R248W probably damaging Het
Klra1 A T 6: 130,364,274 C245* probably null Het
Myh10 A T 11: 68,768,268 M491L possibly damaging Het
Myrf A G 19: 10,223,205 Y343H probably damaging Het
Olfr1084 A T 2: 86,639,166 C181S probably benign Het
Olfr790 T C 10: 129,501,646 V254A probably damaging Het
Olfr859 G A 9: 19,808,654 S112N probably damaging Het
Oplah C T 15: 76,300,957 S852N probably benign Het
Prag1 T C 8: 36,146,357 V1021A probably damaging Het
Rassf4 C T 6: 116,659,607 probably benign Het
Sf3b3 T C 8: 110,842,781 I102V probably benign Het
Slc27a4 T C 2: 29,804,302 I46T probably benign Het
Slc5a12 T C 2: 110,597,822 V74A probably damaging Het
St5 A G 7: 109,570,005 probably null Het
Tas2r134 G T 2: 51,627,659 C50F probably damaging Het
Tcte1 G T 17: 45,539,862 A355S possibly damaging Het
Other mutations in Gan
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00581:Gan APN 8 117193324 missense probably damaging 0.98
IGL01622:Gan APN 8 117187178 missense probably damaging 1.00
IGL01623:Gan APN 8 117187178 missense probably damaging 1.00
IGL03093:Gan APN 8 117183575 missense probably benign
R1534:Gan UTSW 8 117187429 missense probably benign 0.04
R1795:Gan UTSW 8 117196460 missense possibly damaging 0.57
R2027:Gan UTSW 8 117187499 critical splice donor site probably null
R2967:Gan UTSW 8 117183526 missense probably damaging 0.98
R3906:Gan UTSW 8 117194134 missense probably damaging 1.00
R4735:Gan UTSW 8 117194231 missense probably damaging 0.98
R5985:Gan UTSW 8 117195818 missense possibly damaging 0.89
R6027:Gan UTSW 8 117158295 missense probably damaging 1.00
R7002:Gan UTSW 8 117195847 missense possibly damaging 0.89
R7133:Gan UTSW 8 117187230 nonsense probably null
X0023:Gan UTSW 8 117190384 missense probably benign 0.01
Z31818:Gan UTSW 8 117195797 missense probably damaging 1.00
Posted On2013-06-21