Incidental Mutation 'IGL01544:Ina'
| ID |
90261 |
| 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 # |
IGL01544
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
47003137-47013766 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 47003948 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 252
(V252A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041347
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037636]
[ENSMUST00000172239]
|
| AlphaFold |
P46660 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037636
AA Change: V252A
PolyPhen 2
Score 0.760 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000041347
Gene: ENSMUSG00000034336
AA Change: V252A
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap3 |
G |
A |
18: 38,123,889 (GRCm39) |
R377C |
probably damaging |
Het |
| Bbx |
C |
A |
16: 50,095,140 (GRCm39) |
E59* |
probably null |
Het |
| Cep120 |
C |
T |
18: 53,819,033 (GRCm39) |
R886H |
probably benign |
Het |
| Cep350 |
C |
A |
1: 155,828,933 (GRCm39) |
V324L |
probably damaging |
Het |
| Cry1 |
T |
A |
10: 84,982,360 (GRCm39) |
K329* |
probably null |
Het |
| Dhtkd1 |
T |
C |
2: 5,918,342 (GRCm39) |
N627S |
probably benign |
Het |
| Dpp8 |
A |
T |
9: 64,962,270 (GRCm39) |
T437S |
probably benign |
Het |
| Elovl1 |
G |
A |
4: 118,288,107 (GRCm39) |
|
probably null |
Het |
| Heca |
A |
G |
10: 17,791,715 (GRCm39) |
Y114H |
probably damaging |
Het |
| Hrh4 |
A |
G |
18: 13,148,950 (GRCm39) |
N104S |
probably benign |
Het |
| Ift80 |
T |
A |
3: 68,898,115 (GRCm39) |
K73N |
probably benign |
Het |
| Klhl36 |
A |
G |
8: 120,596,755 (GRCm39) |
E152G |
possibly damaging |
Het |
| Lamp5 |
T |
A |
2: 135,910,990 (GRCm39) |
L241Q |
probably damaging |
Het |
| Lrp4 |
G |
A |
2: 91,307,896 (GRCm39) |
R447H |
probably damaging |
Het |
| Mmp24 |
G |
A |
2: 155,641,807 (GRCm39) |
G212R |
probably damaging |
Het |
| Mpp3 |
A |
G |
11: 101,909,485 (GRCm39) |
V191A |
possibly damaging |
Het |
| Mtmr4 |
A |
G |
11: 87,488,437 (GRCm39) |
|
probably benign |
Het |
| Mynn |
C |
A |
3: 30,661,854 (GRCm39) |
S312* |
probably null |
Het |
| Neb |
T |
A |
2: 52,182,917 (GRCm39) |
I1010F |
possibly damaging |
Het |
| Nes |
T |
C |
3: 87,885,271 (GRCm39) |
S1177P |
possibly damaging |
Het |
| Noct |
T |
C |
3: 51,155,469 (GRCm39) |
V79A |
probably damaging |
Het |
| Rad1 |
A |
G |
15: 10,490,465 (GRCm39) |
D114G |
probably damaging |
Het |
| Slc26a9 |
T |
C |
1: 131,687,233 (GRCm39) |
|
probably null |
Het |
| Sqor |
G |
A |
2: 122,634,266 (GRCm39) |
|
probably benign |
Het |
| Sspo |
G |
T |
6: 48,467,953 (GRCm39) |
W4309L |
probably damaging |
Het |
| Thoc7 |
A |
C |
14: 13,953,435 (GRCm38) |
Y72D |
probably damaging |
Het |
| Thra |
A |
G |
11: 98,647,754 (GRCm39) |
I43V |
possibly damaging |
Het |
| Timm44 |
G |
T |
8: 4,325,888 (GRCm39) |
|
probably benign |
Het |
| Trmo |
C |
T |
4: 46,386,169 (GRCm39) |
G119R |
probably damaging |
Het |
| Trpc4 |
T |
C |
3: 54,209,567 (GRCm39) |
M644T |
probably damaging |
Het |
| Wdr72 |
C |
T |
9: 74,056,007 (GRCm39) |
L300F |
probably damaging |
Het |
| Wrn |
T |
C |
8: 33,814,554 (GRCm39) |
T54A |
probably benign |
Het |
|
| Other mutations in Ina |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01539:Ina
|
APN |
19 |
47,003,903 (GRCm39) |
missense |
probably damaging |
0.96 |
|
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 |
Incidental Mutation