Incidental Mutation 'R3906:Gan'
ID 309188
Institutional Source Beutler Lab
Gene Symbol Gan
Ensembl Gene ENSMUSG00000052557
Gene Name giant axonal neuropathy
Synonyms gigaxonin
MMRRC Submission 040813-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # R3906 (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 117920873 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 370 (V370M)
Ref Sequence ENSEMBL: ENSMUSP00000070168 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064488]
AlphaFold Q8CA72
Predicted Effect probably damaging
Transcript: ENSMUST00000064488
AA Change: V370M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000070168
Gene: ENSMUSG00000052557
AA Change: V370M

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: V369M
SMART Domains Protein: ENSMUSP00000124904
Gene: ENSMUSG00000052557
AA Change: V369M

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 0.7860 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 97% (36/37)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 A G 4: 53,067,151 (GRCm39) V1352A possibly damaging Het
Abcb7 G T X: 103,327,765 (GRCm39) Q715K probably benign Het
Adamts3 C A 5: 90,009,214 (GRCm39) G150C probably damaging Het
Ank2 A G 3: 126,810,547 (GRCm39) L513P probably damaging Het
Cacng1 C A 11: 107,607,118 (GRCm39) V34L probably benign Het
Cd1d1 A G 3: 86,906,063 (GRCm39) W71R probably damaging Het
Cdhr3 A G 12: 33,103,427 (GRCm39) F397L probably damaging Het
Ces2a A G 8: 105,465,940 (GRCm39) I325V probably benign Het
Ctsq C T 13: 61,186,585 (GRCm39) V140M probably damaging Het
Cyp4f18 A G 8: 72,754,926 (GRCm39) probably benign Het
Ddi2 T C 4: 141,411,592 (GRCm39) D440G probably benign Het
Dsg3 G A 18: 20,671,556 (GRCm39) G754R probably damaging Het
Endod1 T A 9: 14,292,151 (GRCm39) Y39F probably benign Het
F11 A G 8: 45,701,675 (GRCm39) S353P probably damaging Het
Fn1 C T 1: 71,647,072 (GRCm39) G1482R probably damaging Het
Fpr2 A G 17: 18,113,811 (GRCm39) K269R probably benign Het
Frk T G 10: 34,460,052 (GRCm39) L216V probably benign Het
Grik1 A G 16: 87,803,337 (GRCm39) I285T probably benign Het
Hspa1a C T 17: 35,190,703 (GRCm39) V67M probably damaging Het
Kbtbd8 T A 6: 95,103,565 (GRCm39) Y405N probably damaging Het
Kcnj4 G T 15: 79,369,946 (GRCm39) H11Q probably benign Het
Kif26a T A 12: 112,143,324 (GRCm39) S1193T probably benign Het
Kmt2e A G 5: 23,706,624 (GRCm39) N1396D probably benign Het
Lasp1 G A 11: 97,690,653 (GRCm39) V12M probably damaging Het
Lrrk1 G T 7: 65,944,651 (GRCm39) T653K possibly damaging Het
Meiob A G 17: 25,046,922 (GRCm39) Y182C probably benign Het
Myh6 T C 14: 55,194,412 (GRCm39) D739G probably benign Het
Ninl T C 2: 150,822,039 (GRCm39) D21G probably damaging Het
Or11g27 C T 14: 50,771,211 (GRCm39) T114I probably benign Het
Or9i16 C T 19: 13,865,070 (GRCm39) C168Y probably damaging Het
Pacsin2 A C 15: 83,263,256 (GRCm39) V125G probably damaging Het
Pfas G A 11: 68,879,112 (GRCm39) probably benign Het
Pla2g4f C T 2: 120,130,980 (GRCm39) R825Q probably benign Het
Prkd1 A T 12: 50,435,209 (GRCm39) V506E possibly damaging Het
Psmd2 A G 16: 20,474,392 (GRCm39) D316G probably benign Het
Ryr2 T A 13: 11,753,095 (GRCm39) D1742V possibly damaging Het
Szt2 G A 4: 118,235,466 (GRCm39) probably benign Het
Ugt8a T C 3: 125,708,631 (GRCm39) T160A possibly damaging Het
Xrcc6 A G 15: 81,913,772 (GRCm39) T378A 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
R1534:Gan UTSW 8 117,914,168 (GRCm39) missense probably benign 0.04
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
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'- GATGAGCCTGCATCTTTTGTC -3'
(R):5'- CCAGAAAGGGACACTGACTG -3'

Sequencing Primer
(F):5'- AGGAGTGACTAGCTGGCTC -3'
(R):5'- ACTGACGCCAGCTTGTGAAG -3'
Posted On 2015-04-17