Incidental Mutation 'R1534:Gan'
ID 166829
Institutional Source Beutler Lab
Gene Symbol Gan
Ensembl Gene ENSMUSG00000052557
Gene Name giant axonal neuropathy
Synonyms gigaxonin
MMRRC Submission 039573-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # R1534 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 117884720-117932573 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 117914168 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 189 (V189I)
Ref Sequence ENSEMBL: ENSMUSP00000070168 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064488]
AlphaFold Q8CA72
Predicted Effect probably benign
Transcript: ENSMUST00000064488
AA Change: V189I

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000070168
Gene: ENSMUSG00000052557
AA Change: V189I

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 unknown
Transcript: ENSMUST00000162997
AA Change: V188I
SMART Domains Protein: ENSMUSP00000124904
Gene: ENSMUSG00000052557
AA Change: V188I

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
Meta Mutation Damage Score 0.1860 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 94.0%
Validation Efficiency 98% (52/53)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy10 T C 1: 165,345,881 (GRCm39) I310T probably damaging Het
Adcy5 T C 16: 35,073,629 (GRCm39) V469A possibly damaging Het
Agrn C T 4: 156,261,141 (GRCm39) C652Y probably damaging Het
Ankfn1 C T 11: 89,413,977 (GRCm39) V133M probably damaging Het
Ankrd13c A G 3: 157,706,757 (GRCm39) T448A probably benign Het
Atp8b1 C T 18: 64,678,335 (GRCm39) V854M probably damaging Het
B4galt2 T C 4: 117,734,669 (GRCm39) H233R probably damaging Het
Bpifb5 T G 2: 154,071,419 (GRCm39) Y249D possibly damaging Het
Brd1 T C 15: 88,573,866 (GRCm39) I1078V possibly damaging Het
Celsr3 A G 9: 108,726,083 (GRCm39) E3104G probably damaging Het
Cyp2c69 T A 19: 39,839,593 (GRCm39) K343N probably benign Het
Cyp4f18 T A 8: 72,746,799 (GRCm39) D331V probably damaging Het
D130040H23Rik T C 8: 69,755,378 (GRCm39) V261A possibly damaging Het
Dchs1 T C 7: 105,421,247 (GRCm39) D391G probably damaging Het
Diaph1 A G 18: 38,029,146 (GRCm39) probably null Het
Fat4 T C 3: 38,944,238 (GRCm39) F1044L probably damaging Het
Frrs1 A T 3: 116,672,057 (GRCm39) T52S probably benign Het
Hnf1b A G 11: 83,784,409 (GRCm39) probably benign Het
Itgae T C 11: 73,036,431 (GRCm39) I1123T possibly damaging Het
Klra3 G C 6: 130,310,107 (GRCm39) R138G probably benign Het
Lrrc18 A G 14: 32,730,478 (GRCm39) K6E possibly damaging Het
Map2 G A 1: 66,452,339 (GRCm39) V492I probably benign Het
Mtr A T 13: 12,250,430 (GRCm39) probably benign Het
Ncor1 G T 11: 62,269,330 (GRCm39) A689E possibly damaging Het
Or52n2c G A 7: 104,574,621 (GRCm39) L117F possibly damaging Het
Or5w22 T A 2: 87,363,016 (GRCm39) V213D probably damaging Het
Palm T G 10: 79,652,737 (GRCm39) V42G probably damaging Het
Pcm1 G A 8: 41,740,738 (GRCm39) V995I probably benign Het
Pfkp A G 13: 6,669,574 (GRCm39) V215A probably damaging Het
Prkg2 T C 5: 99,142,420 (GRCm39) Y238C probably damaging Het
Prr14 C T 7: 127,073,154 (GRCm39) A167V probably benign Het
Ptprn A C 1: 75,234,587 (GRCm39) probably null Het
Rexo2 A T 9: 48,380,190 (GRCm39) I214N probably damaging Het
Rrbp1 A G 2: 143,830,233 (GRCm39) S645P probably damaging Het
Rsf1 G GACGGCGGCA 7: 97,229,116 (GRCm39) probably benign Het
Satb2 A T 1: 56,987,392 (GRCm39) C64* probably null Het
Sez6 A G 11: 77,853,871 (GRCm39) Y347C probably damaging Het
Sos2 A G 12: 69,663,729 (GRCm39) I585T probably damaging Het
Spg11 G A 2: 121,922,806 (GRCm39) T881M probably damaging Het
Tiam1 A T 16: 89,664,396 (GRCm39) probably null Het
Tlcd5 A G 9: 43,022,923 (GRCm39) W126R probably damaging Het
Top1 T C 2: 160,556,152 (GRCm39) I537T probably damaging Het
Trappc6a A G 7: 19,248,138 (GRCm39) S33G probably benign Het
Tspan11 G C 6: 127,926,768 (GRCm39) V239L probably benign Het
Ubr4 T C 4: 139,155,462 (GRCm39) V2190A possibly damaging Het
Usp28 A G 9: 48,896,806 (GRCm39) D9G possibly damaging Het
Uty A G Y: 1,245,440 (GRCm39) V35A probably benign Het
Vmn2r56 A G 7: 12,427,954 (GRCm39) S771P probably benign Het
Wars2 C T 3: 99,124,177 (GRCm39) A346V probably damaging Het
Wdr87-ps G T 7: 29,229,854 (GRCm39) noncoding transcript Het
Zfp142 G T 1: 74,611,247 (GRCm39) N849K probably benign Het
Zfp180 A T 7: 23,800,948 (GRCm39) N66I probably benign Het
Other mutations in Gan
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00581:Gan APN 8 117,920,063 (GRCm39) missense probably damaging 0.98
IGL01132:Gan APN 8 117,923,183 (GRCm39) splice site probably benign
IGL01622:Gan APN 8 117,913,917 (GRCm39) missense probably damaging 1.00
IGL01623:Gan APN 8 117,913,917 (GRCm39) missense probably damaging 1.00
IGL03093:Gan APN 8 117,910,314 (GRCm39) missense probably benign
R1795:Gan UTSW 8 117,923,199 (GRCm39) missense possibly damaging 0.57
R2027:Gan UTSW 8 117,914,238 (GRCm39) critical splice donor site probably null
R2967:Gan UTSW 8 117,910,265 (GRCm39) missense probably damaging 0.98
R3906:Gan UTSW 8 117,920,873 (GRCm39) missense probably damaging 1.00
R4735:Gan UTSW 8 117,920,970 (GRCm39) missense probably damaging 0.98
R5985:Gan UTSW 8 117,922,557 (GRCm39) missense possibly damaging 0.89
R6027:Gan UTSW 8 117,885,034 (GRCm39) missense probably damaging 1.00
R7002:Gan UTSW 8 117,922,586 (GRCm39) missense possibly damaging 0.89
R7133:Gan UTSW 8 117,913,969 (GRCm39) nonsense probably null
R8401:Gan UTSW 8 117,910,242 (GRCm39) missense possibly damaging 0.83
R8834:Gan UTSW 8 117,885,031 (GRCm39) missense
R9623:Gan UTSW 8 117,914,219 (GRCm39) missense probably damaging 1.00
X0023:Gan UTSW 8 117,917,123 (GRCm39) missense probably benign 0.01
Z31818:Gan UTSW 8 117,922,536 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACCTGAAAACGCTGTGCTGTGAG -3'
(R):5'- AAGGACCCCTGCTAACAGTCTGAG -3'

Sequencing Primer
(F):5'- TCCTGGAGGGCTGCATAG -3'
(R):5'- AGTCTGAGACTGACAGCTTTAGC -3'
Posted On 2014-04-13