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) question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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