Incidental Mutation 'R2967:Gan'
| ID |
263290 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gan
|
| Ensembl Gene |
ENSMUSG00000052557 |
| Gene Name |
giant axonal neuropathy |
| Synonyms |
gigaxonin |
| MMRRC Submission |
040523-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.088)
|
| Stock # |
R2967 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
117884720-117932573 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 117910265 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 65
(K65E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070168
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064488]
|
| AlphaFold |
Q8CA72 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064488
AA Change: K65E
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000070168
Gene: ENSMUSG00000052557
AA Change: K65E
| 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: K64E
|
| SMART Domains |
Protein: ENSMUSP00000124904
Gene: ENSMUSG00000052557
AA Change: K64E
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.7%
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
A |
G |
5: 114,304,131 (GRCm39) |
S185G |
possibly damaging |
Het |
| Adgra1 |
G |
A |
7: 139,455,601 (GRCm39) |
E410K |
possibly damaging |
Het |
| Aox1 |
A |
T |
1: 58,361,993 (GRCm39) |
N733I |
probably damaging |
Het |
| Bola3 |
T |
A |
6: 83,326,280 (GRCm39) |
Y24N |
probably benign |
Het |
| Cntn6 |
G |
A |
6: 104,703,198 (GRCm39) |
V135I |
probably benign |
Het |
| Eif2s3y |
A |
T |
Y: 1,020,030 (GRCm39) |
M353L |
probably benign |
Het |
| Ercc8 |
C |
A |
13: 108,297,248 (GRCm39) |
P53T |
probably damaging |
Het |
| Gm1110 |
T |
C |
9: 26,792,339 (GRCm39) |
E597G |
probably benign |
Het |
| Gsdmc4 |
T |
A |
15: 63,773,909 (GRCm39) |
H81L |
probably benign |
Het |
| Hs2st1 |
T |
A |
3: 144,170,899 (GRCm39) |
N91I |
probably damaging |
Het |
| Or1e31 |
A |
G |
11: 73,689,933 (GRCm39) |
S217P |
possibly damaging |
Het |
| Or7a41 |
A |
T |
10: 78,870,887 (GRCm39) |
I86F |
probably damaging |
Het |
| Pgr |
T |
C |
9: 8,901,819 (GRCm39) |
S451P |
possibly damaging |
Het |
| Pira13 |
T |
A |
7: 3,825,686 (GRCm39) |
R394S |
probably damaging |
Het |
| Pwp2 |
A |
G |
10: 78,018,532 (GRCm39) |
L84S |
possibly damaging |
Het |
| Rab1a |
T |
A |
11: 20,173,068 (GRCm39) |
|
probably null |
Het |
| Secisbp2 |
T |
C |
13: 51,824,915 (GRCm39) |
S388P |
probably benign |
Het |
| Sh3rf1 |
C |
T |
8: 61,679,321 (GRCm39) |
P121L |
probably benign |
Het |
| Sybu |
T |
C |
15: 44,609,752 (GRCm39) |
K172R |
probably damaging |
Het |
| Topbp1 |
C |
T |
9: 103,219,339 (GRCm39) |
A1197V |
probably benign |
Het |
| Ttf1 |
T |
A |
2: 28,955,395 (GRCm39) |
V253D |
possibly damaging |
Het |
| Ugt2a2 |
A |
T |
5: 87,622,488 (GRCm39) |
V160E |
probably damaging |
Het |
| Vmn1r81 |
G |
T |
7: 11,993,964 (GRCm39) |
Q215K |
probably damaging |
Het |
| Zfp653 |
A |
G |
9: 21,977,026 (GRCm39) |
L147P |
probably 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 |
|
|
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'- GGACCGATGGCTTTTAGCTAAAG -3'
(R):5'- AAGAGCATGTATGTGGGGCC -3'
Sequencing Primer
(F):5'- GCTGTATATATTGATCTGACGCTAAG -3'
(R):5'- ATGCTGACAGGTGCTCCCAAC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation