Incidental Mutation 'IGL01539:Ina'
ID |
90107 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ina
|
Ensembl Gene |
ENSMUSG00000034336 |
Gene Name |
internexin neuronal intermediate filament protein, alpha |
Synonyms |
NF66, NF-66 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01539
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
47003137-47013766 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 47003903 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 237
(E237G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041347
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037636]
[ENSMUST00000172239]
|
AlphaFold |
P46660 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000037636
AA Change: E237G
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000041347 Gene: ENSMUSG00000034336 AA Change: E237G
Domain | Start | End | E-Value | Type |
Pfam:Filament_head
|
10 |
92 |
3.6e-17 |
PFAM |
Filament
|
93 |
406 |
2.36e-141 |
SMART |
low complexity region
|
417 |
429 |
N/A |
INTRINSIC |
low complexity region
|
440 |
470 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000172239
|
SMART Domains |
Protein: ENSMUSP00000130898 Gene: ENSMUSG00000025041
Domain | Start | End | E-Value | Type |
low complexity region
|
9 |
20 |
N/A |
INTRINSIC |
Pfam:5_nucleotid
|
61 |
515 |
6.5e-179 |
PFAM |
low complexity region
|
575 |
586 |
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.] 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 is a member of the intermediate filament family and is involved in the morphogenesis of neurons. [provided by RefSeq, Jun 2009] PHENOTYPE: Homozygous mice are healthy and viable, and do not exhibit any obvious abnormalities; no defects in the nervous system were detected, including brain development, axon outgrowth, or guidance. [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 |
Clca4b |
T |
A |
3: 144,631,918 (GRCm39) |
M196L |
probably benign |
Het |
Cyp4a14 |
T |
C |
4: 115,344,374 (GRCm39) |
N497S |
possibly damaging |
Het |
Eif3b |
T |
C |
5: 140,416,008 (GRCm39) |
|
probably benign |
Het |
Grin2c |
T |
C |
11: 115,140,932 (GRCm39) |
Q1062R |
probably benign |
Het |
Lmx1b |
T |
C |
2: 33,529,510 (GRCm39) |
D83G |
possibly damaging |
Het |
Macf1 |
A |
G |
4: 123,289,701 (GRCm39) |
|
probably benign |
Het |
Muc6 |
T |
A |
7: 141,236,306 (GRCm39) |
M406L |
probably benign |
Het |
Myo15b |
T |
C |
11: 115,754,299 (GRCm39) |
I933T |
probably benign |
Het |
Or4c121 |
A |
G |
2: 89,023,836 (GRCm39) |
F181L |
possibly damaging |
Het |
Or6c204 |
T |
C |
10: 129,022,804 (GRCm39) |
N162S |
probably benign |
Het |
Pde1b |
A |
T |
15: 103,433,772 (GRCm39) |
|
probably benign |
Het |
Rab29 |
G |
A |
1: 131,798,445 (GRCm39) |
R75Q |
probably damaging |
Het |
Scn10a |
A |
T |
9: 119,467,764 (GRCm39) |
I792N |
probably damaging |
Het |
Serpinb6a |
A |
T |
13: 34,114,117 (GRCm39) |
V70D |
probably damaging |
Het |
Slco1a7 |
A |
G |
6: 141,673,333 (GRCm39) |
S402P |
possibly damaging |
Het |
Spart |
A |
G |
3: 55,024,723 (GRCm39) |
D106G |
possibly damaging |
Het |
Sucla2 |
A |
G |
14: 73,828,561 (GRCm39) |
E359G |
probably damaging |
Het |
Sycp2 |
T |
C |
2: 178,016,488 (GRCm39) |
Y658C |
probably damaging |
Het |
Tenm2 |
T |
A |
11: 35,997,654 (GRCm39) |
T811S |
possibly damaging |
Het |
Trim66 |
C |
A |
7: 109,054,273 (GRCm39) |
M1312I |
probably benign |
Het |
Tspan18 |
A |
G |
2: 93,041,198 (GRCm39) |
S135P |
probably damaging |
Het |
Ube2j1 |
T |
C |
4: 33,043,993 (GRCm39) |
|
probably benign |
Het |
Ubr1 |
A |
C |
2: 120,756,494 (GRCm39) |
V711G |
possibly damaging |
Het |
Veph1 |
T |
C |
3: 66,065,496 (GRCm39) |
T524A |
probably benign |
Het |
Vmn1r222 |
A |
T |
13: 23,417,059 (GRCm39) |
F51L |
probably benign |
Het |
Vwf |
G |
T |
6: 125,567,225 (GRCm39) |
V338L |
possibly damaging |
Het |
Zfp770 |
G |
T |
2: 114,027,574 (GRCm39) |
A165E |
probably damaging |
Het |
|
Other mutations in Ina |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01544:Ina
|
APN |
19 |
47,003,948 (GRCm39) |
missense |
possibly damaging |
0.76 |
IGL02263:Ina
|
APN |
19 |
47,003,926 (GRCm39) |
missense |
probably damaging |
1.00 |
R0086:Ina
|
UTSW |
19 |
47,012,030 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0395:Ina
|
UTSW |
19 |
47,010,358 (GRCm39) |
missense |
probably damaging |
1.00 |
R0570:Ina
|
UTSW |
19 |
47,011,938 (GRCm39) |
missense |
probably benign |
|
R0764:Ina
|
UTSW |
19 |
47,012,087 (GRCm39) |
makesense |
probably null |
|
R3727:Ina
|
UTSW |
19 |
47,004,158 (GRCm39) |
missense |
possibly damaging |
0.48 |
R5160:Ina
|
UTSW |
19 |
47,003,519 (GRCm39) |
missense |
probably damaging |
1.00 |
R6376:Ina
|
UTSW |
19 |
47,003,564 (GRCm39) |
missense |
probably benign |
0.00 |
R6455:Ina
|
UTSW |
19 |
47,012,000 (GRCm39) |
missense |
probably benign |
0.13 |
R6770:Ina
|
UTSW |
19 |
47,003,366 (GRCm39) |
utr 5 prime |
probably benign |
|
R7709:Ina
|
UTSW |
19 |
47,012,082 (GRCm39) |
missense |
|
|
R7882:Ina
|
UTSW |
19 |
47,004,100 (GRCm39) |
missense |
|
|
R9324:Ina
|
UTSW |
19 |
47,003,816 (GRCm39) |
missense |
|
|
Z1177:Ina
|
UTSW |
19 |
47,003,350 (GRCm39) |
missense |
|
|
|
Posted On |
2013-12-03 |