Incidental Mutation 'IGL01132:Gan'
| ID |
51808 |
| 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 # |
IGL01132
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
117884720-117932573 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 117923183 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064488]
|
| AlphaFold |
Q8CA72 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064488
|
| SMART Domains |
Protein: ENSMUSP00000070168
Gene: ENSMUSG00000052557
| 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 |
probably benign
Transcript: ENSMUST00000162997
|
| SMART Domains |
Protein: ENSMUSP00000124904
Gene: ENSMUSG00000052557
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
| Adcy6 |
T |
C |
15: 98,495,732 (GRCm39) |
N619S |
probably benign |
Het |
| Adgrf5 |
G |
T |
17: 43,733,400 (GRCm39) |
D75Y |
possibly damaging |
Het |
| Aldh1a7 |
T |
C |
19: 20,704,404 (GRCm39) |
H30R |
possibly damaging |
Het |
| Birc6 |
T |
C |
17: 74,910,055 (GRCm39) |
S1483P |
probably damaging |
Het |
| Cd209e |
T |
C |
8: 3,901,274 (GRCm39) |
T127A |
probably benign |
Het |
| Clmn |
T |
A |
12: 104,740,810 (GRCm39) |
|
probably null |
Het |
| Dcc |
A |
T |
18: 71,815,245 (GRCm39) |
Y376* |
probably null |
Het |
| Dennd2b |
A |
G |
7: 109,169,212 (GRCm39) |
|
probably null |
Het |
| Dscaml1 |
C |
T |
9: 45,663,626 (GRCm39) |
R1950* |
probably null |
Het |
| Eml2 |
A |
T |
7: 18,934,464 (GRCm39) |
S388C |
probably damaging |
Het |
| Ext2 |
C |
T |
2: 93,621,418 (GRCm39) |
M370I |
probably benign |
Het |
| Foxo1 |
C |
T |
3: 52,252,580 (GRCm39) |
R248W |
probably damaging |
Het |
| Klra1 |
A |
T |
6: 130,341,237 (GRCm39) |
C245* |
probably null |
Het |
| Myh10 |
A |
T |
11: 68,659,094 (GRCm39) |
M491L |
possibly damaging |
Het |
| Myrf |
A |
G |
19: 10,200,569 (GRCm39) |
Y343H |
probably damaging |
Het |
| Oplah |
C |
T |
15: 76,185,157 (GRCm39) |
S852N |
probably benign |
Het |
| Or6c75 |
T |
C |
10: 129,337,515 (GRCm39) |
V254A |
probably damaging |
Het |
| Or7e168 |
G |
A |
9: 19,719,950 (GRCm39) |
S112N |
probably damaging |
Het |
| Or8k37 |
A |
T |
2: 86,469,510 (GRCm39) |
C181S |
probably benign |
Het |
| Prag1 |
T |
C |
8: 36,613,511 (GRCm39) |
V1021A |
probably damaging |
Het |
| Rassf4 |
C |
T |
6: 116,636,568 (GRCm39) |
|
probably benign |
Het |
| Sf3b3 |
T |
C |
8: 111,569,413 (GRCm39) |
I102V |
probably benign |
Het |
| Slc27a4 |
T |
C |
2: 29,694,314 (GRCm39) |
I46T |
probably benign |
Het |
| Slc5a12 |
T |
C |
2: 110,428,167 (GRCm39) |
V74A |
probably damaging |
Het |
| Tas2r134 |
G |
T |
2: 51,517,671 (GRCm39) |
C50F |
probably damaging |
Het |
| Tcte1 |
G |
T |
17: 45,850,788 (GRCm39) |
A355S |
possibly damaging |
Het |
|
| Other mutations in Gan |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00581:Gan
|
APN |
8 |
117,920,063 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
2013-06-21 |
Incidental Mutation