Incidental Mutation 'IGL00581:Gan'
| ID |
10910 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gan
|
| Ensembl Gene |
ENSMUSG00000052557 |
| Gene Name |
giant axonal neuropathy |
| Synonyms |
gigaxonin |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
IGL00581
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
117884720-117932573 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 117920063 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 353
(T353M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070168
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064488]
|
| AlphaFold |
Q8CA72 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064488
AA Change: T353M
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000070168
Gene: ENSMUSG00000052557
AA Change: T353M
| Domain | Start | End | E-Value | Type |
|---|
|
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: T352M
|
| SMART Domains |
Protein: ENSMUSP00000124904
Gene: ENSMUSG00000052557
AA Change: T352M
| Domain | Start | End | E-Value | Type |
|---|
|
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: 9 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadsb |
A |
T |
7: 131,039,225 (GRCm39) |
|
probably benign |
Het |
| Arid4b |
C |
T |
13: 14,334,780 (GRCm39) |
R330W |
probably damaging |
Het |
| Depdc1a |
T |
A |
3: 159,232,189 (GRCm39) |
C370S |
probably benign |
Het |
| Kif28 |
A |
T |
1: 179,567,522 (GRCm39) |
S83T |
probably benign |
Het |
| Rps27l |
A |
T |
9: 66,854,207 (GRCm39) |
D34V |
possibly damaging |
Het |
| Rrm2b |
A |
G |
15: 37,929,319 (GRCm39) |
V77A |
probably damaging |
Het |
| Scap |
T |
C |
9: 110,205,699 (GRCm39) |
V369A |
probably damaging |
Het |
| Tmeff2 |
A |
T |
1: 51,224,609 (GRCm39) |
N365I |
probably damaging |
Het |
| Zfp142 |
T |
C |
1: 74,606,131 (GRCm39) |
D1612G |
probably damaging |
Het |
|
| Other mutations in Gan |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2012-12-06 |
Incidental Mutation