Incidental Mutation 'IGL01755:Nefl'
| ID |
153195 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nefl
|
| Ensembl Gene |
ENSMUSG00000022055 |
| Gene Name |
neurofilament, light polypeptide |
| Synonyms |
NF68, NF-L, Nfl, CMT2E |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01755
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
68321312-68326544 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 68323526 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 384
(D384G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022639
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022639]
[ENSMUST00000111089]
|
| AlphaFold |
P08551 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022639
AA Change: D384G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022639
Gene: ENSMUSG00000022055
AA Change: D384G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Filament_head
|
9 |
88 |
7e-14 |
PFAM |
|
Filament
|
89 |
400 |
6.93e-139 |
SMART |
|
low complexity region
|
448 |
470 |
N/A |
INTRINSIC |
|
coiled coil region
|
473 |
512 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111089
|
| SMART Domains |
Protein: ENSMUSP00000106718
Gene: ENSMUSG00000022054
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Filament_head
|
9 |
97 |
1.6e-16 |
PFAM |
|
Pfam:Filament
|
98 |
403 |
1.1e-104 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and they functionally maintain the neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the light chain neurofilament protein. Mutations in this gene cause Charcot-Marie-Tooth disease types 1F (CMT1F) and 2E (CMT2E), disorders of the peripheral nervous system that are characterized by distinct neuropathies. A pseudogene has been identified on chromosome Y. [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for disruptions of this gene lack neurofilaments in their axons and have motor axons that are reduced in both size and number. [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 |
|---|
| Atf6 |
A |
G |
1: 170,616,180 (GRCm39) |
I520T |
possibly damaging |
Het |
| Azgp1 |
A |
T |
5: 137,988,109 (GRCm39) |
K297M |
possibly damaging |
Het |
| Cyp2e1 |
A |
G |
7: 140,354,469 (GRCm39) |
|
probably null |
Het |
| Dapk1 |
C |
A |
13: 60,908,989 (GRCm39) |
L1201M |
probably damaging |
Het |
| Dapk1 |
T |
A |
13: 60,908,990 (GRCm39) |
L1201Q |
possibly damaging |
Het |
| Insrr |
A |
T |
3: 87,721,493 (GRCm39) |
D1133V |
probably damaging |
Het |
| Kcnc4 |
T |
C |
3: 107,355,491 (GRCm39) |
N319S |
probably damaging |
Het |
| Kctd1 |
A |
G |
18: 15,195,694 (GRCm39) |
C310R |
possibly damaging |
Het |
| Nfatc3 |
A |
G |
8: 106,854,553 (GRCm39) |
N1029S |
probably benign |
Het |
| Nup107 |
T |
C |
10: 117,610,398 (GRCm39) |
Y348C |
probably damaging |
Het |
| Or5b117 |
T |
C |
19: 13,431,179 (GRCm39) |
K234R |
probably damaging |
Het |
| Or5w8 |
T |
A |
2: 87,687,854 (GRCm39) |
C112S |
possibly damaging |
Het |
| Phf8-ps |
T |
A |
17: 33,285,951 (GRCm39) |
N284Y |
probably damaging |
Het |
| Phldb2 |
T |
C |
16: 45,645,945 (GRCm39) |
E212G |
probably damaging |
Het |
| Pirb |
A |
T |
7: 3,720,169 (GRCm39) |
N401K |
probably benign |
Het |
| Plcg2 |
T |
C |
8: 118,347,980 (GRCm39) |
F1183S |
possibly damaging |
Het |
| Plekhf2 |
A |
T |
4: 10,991,308 (GRCm39) |
N11K |
probably damaging |
Het |
| Slc7a11 |
A |
G |
3: 50,378,516 (GRCm39) |
Y241H |
probably benign |
Het |
| Sltm |
T |
G |
9: 70,491,204 (GRCm39) |
|
probably null |
Het |
| Taf4b |
A |
G |
18: 15,031,042 (GRCm39) |
T809A |
probably benign |
Het |
| Taf4b |
C |
A |
18: 15,031,043 (GRCm39) |
T809N |
probably benign |
Het |
| Tesk1 |
T |
C |
4: 43,445,820 (GRCm39) |
|
probably null |
Het |
| Tspan8 |
C |
T |
10: 115,671,203 (GRCm39) |
T120M |
probably damaging |
Het |
| Ttn |
T |
G |
2: 76,551,727 (GRCm39) |
D31275A |
probably damaging |
Het |
| Vcl |
C |
A |
14: 21,046,038 (GRCm39) |
Q334K |
probably damaging |
Het |
| Zfp94 |
G |
A |
7: 24,010,906 (GRCm39) |
|
probably benign |
Het |
| Zkscan17 |
A |
G |
11: 59,378,241 (GRCm39) |
F314S |
probably damaging |
Het |
|
| Other mutations in Nefl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01339:Nefl
|
APN |
14 |
68,323,931 (GRCm39) |
intron |
probably benign |
|
|
IGL02825:Nefl
|
APN |
14 |
68,321,795 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
IGL03297:Nefl
|
APN |
14 |
68,321,673 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
PIT4418001:Nefl
|
UTSW |
14 |
68,323,979 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0503:Nefl
|
UTSW |
14 |
68,321,432 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1837:Nefl
|
UTSW |
14 |
68,324,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1970:Nefl
|
UTSW |
14 |
68,324,121 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4812:Nefl
|
UTSW |
14 |
68,321,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4972:Nefl
|
UTSW |
14 |
68,324,212 (GRCm39) |
intron |
probably benign |
|
|
R5361:Nefl
|
UTSW |
14 |
68,322,088 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6357:Nefl
|
UTSW |
14 |
68,321,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6499:Nefl
|
UTSW |
14 |
68,322,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7571:Nefl
|
UTSW |
14 |
68,322,123 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8086:Nefl
|
UTSW |
14 |
68,323,480 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9325:Nefl
|
UTSW |
14 |
68,322,460 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9582:Nefl
|
UTSW |
14 |
68,324,849 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2014-02-04 |
Incidental Mutation