Incidental Mutation 'Z31818:Gan'
| ID |
478401 |
| Institutional Source |
Beutler Lab
|
| 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 # |
Z31818 (F1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
117884720-117932573 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 117922536 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 423
(I423N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070168
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064488]
|
| AlphaFold |
Q8CA72 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064488
AA Change: I423N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000070168
Gene: ENSMUSG00000052557
AA Change: I423N
| 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: I422N
|
| SMART Domains |
Protein: ENSMUSP00000124904
Gene: ENSMUSG00000052557
AA Change: I422N
| 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 |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 96.9%
- 20x: 89.9%
|
| 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: 14 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Dmrtc2 |
C |
A |
7: 24,576,583 (GRCm39) |
P336T |
probably benign |
Het |
| Flt3 |
C |
T |
5: 147,303,728 (GRCm39) |
|
probably null |
Het |
| Fndc5 |
G |
A |
4: 129,033,142 (GRCm39) |
D70N |
probably damaging |
Het |
| Itpr3 |
T |
G |
17: 27,314,452 (GRCm39) |
L634R |
probably damaging |
Het |
| Ndufb5 |
T |
A |
3: 32,800,610 (GRCm39) |
M74K |
probably benign |
Het |
| Or9m1b |
A |
T |
2: 87,836,234 (GRCm39) |
L287* |
probably null |
Het |
| Osbpl6 |
A |
G |
2: 76,385,426 (GRCm39) |
R287G |
probably damaging |
Het |
| Pkd1l3 |
A |
C |
8: 110,395,924 (GRCm39) |
N2098T |
probably damaging |
Het |
| Proser3 |
G |
A |
7: 30,245,790 (GRCm39) |
P97L |
possibly damaging |
Het |
| Rag2 |
G |
A |
2: 101,461,150 (GRCm39) |
A487T |
probably damaging |
Het |
| Sorl1 |
A |
T |
9: 41,952,892 (GRCm39) |
C716* |
probably null |
Het |
| Ugt1a6b |
T |
C |
1: 88,034,877 (GRCm39) |
Y72H |
probably benign |
Het |
| Vmn2r74 |
T |
C |
7: 85,604,729 (GRCm39) |
|
probably null |
Het |
| Vps13a |
C |
T |
19: 16,758,118 (GRCm39) |
V6M |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGGGTCATGTTAGACAGCATC -3'
(R):5'- GTACCTGCAATGCTCTGTGC -3'
Sequencing Primer
(F):5'- CATGTTAGACAGCATCATGGTTTTGC -3'
(R):5'- GTACCTGCAATGCTCTGTGCTATATG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation