Incidental Mutation 'R5160:Ina'
ID 396970
Institutional Source Beutler Lab
Gene Symbol Ina
Ensembl Gene ENSMUSG00000034336
Gene Name internexin neuronal intermediate filament protein, alpha
Synonyms NF66, NF-66
MMRRC Submission 042742-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5160 (G1)
Quality Score 104
Status Not validated
Chromosome 19
Chromosomal Location 47003137-47013766 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 47003519 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 109 (I109N)
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: I109N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000041347
Gene: ENSMUSG00000034336
AA Change: I109N

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.7%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aftph G A 11: 20,662,197 (GRCm39) P681L probably benign Het
Akap9 A G 5: 4,080,007 (GRCm39) R1920G probably damaging Het
Ano9 G A 7: 140,684,278 (GRCm39) R495C probably damaging Het
Apoa5 A G 9: 46,181,794 (GRCm39) Y290C probably damaging Het
Apob T C 12: 8,062,126 (GRCm39) I3536T possibly damaging Het
Arhgap42 T G 9: 8,997,656 (GRCm39) K823T probably damaging Het
Bicc1 T C 10: 70,768,066 (GRCm39) Y850C probably damaging Het
Cdh2 A T 18: 16,762,644 (GRCm39) D433E probably damaging Het
Cfap100 A G 6: 90,390,692 (GRCm39) probably null Het
Col6a5 T C 9: 105,808,208 (GRCm39) N947D unknown Het
Col8a2 A G 4: 126,204,205 (GRCm39) K72E possibly damaging Het
Ddx18 A G 1: 121,493,608 (GRCm39) probably null Het
Dna2 T C 10: 62,782,933 (GRCm39) V21A probably benign Het
Dnaja3 T A 16: 4,502,152 (GRCm39) M52K probably benign Het
Fnip2 G A 3: 79,396,298 (GRCm39) T504I probably damaging Het
Il18 G A 9: 50,489,193 (GRCm39) probably null Het
Katnb1 G T 8: 95,822,098 (GRCm39) V275L probably benign Het
Kdm6b C A 11: 69,291,594 (GRCm39) probably benign Het
Kifc2 T A 15: 76,547,177 (GRCm39) L251Q probably damaging Het
Kmt2d A G 15: 98,738,105 (GRCm39) probably benign Het
Lcor T A 19: 41,544,053 (GRCm39) V82E probably damaging Het
Limk2 A C 11: 3,300,772 (GRCm39) V190G probably damaging Het
Luc7l A G 17: 26,486,271 (GRCm39) D150G probably benign Het
Magi3 T A 3: 103,935,224 (GRCm39) H903L possibly damaging Het
Mdh1b C T 1: 63,764,804 (GRCm39) R33Q probably null Het
Myo9a T C 9: 59,779,085 (GRCm39) F1614L probably benign Het
Ngly1 A G 14: 16,281,751 (GRCm38) T210A probably damaging Het
Oas1h A G 5: 121,009,145 (GRCm39) Y285C probably damaging Het
Or1l4b T A 2: 37,036,815 (GRCm39) M197K probably benign Het
Or2h1 T C 17: 37,404,616 (GRCm39) D50G possibly damaging Het
Or2y12 T C 11: 49,426,516 (GRCm39) L168P probably damaging Het
Or4a79 T C 2: 89,551,763 (GRCm39) R231G probably damaging Het
Or5ac25 C T 16: 59,182,129 (GRCm39) G151R probably damaging Het
Or9s23 C T 1: 92,501,544 (GRCm39) T217I probably benign Het
Osbpl7 T C 11: 96,945,382 (GRCm39) S81P probably damaging Het
Pcdha3 T C 18: 37,079,480 (GRCm39) V74A probably damaging Het
Pi4ka T C 16: 17,140,917 (GRCm39) D68G probably benign Het
Prkcz A T 4: 155,377,689 (GRCm39) V79D probably benign Het
Ptpn12 T A 5: 21,202,829 (GRCm39) I650F probably damaging Het
Rb1 A G 14: 73,501,895 (GRCm39) silent Het
Rnaseh2b T G 14: 62,590,980 (GRCm39) Y56* probably null Het
Ryr3 A T 2: 112,477,272 (GRCm39) C4495S probably damaging Het
Tk1 A G 11: 117,715,572 (GRCm39) I45T possibly damaging Het
Ttc23l G T 15: 10,551,636 (GRCm39) T30K possibly damaging Het
Upp1 T C 11: 9,085,193 (GRCm39) S227P possibly damaging Het
Vmn1r30 T A 6: 58,412,368 (GRCm39) N155Y probably benign Het
Wdr35 C T 12: 9,058,487 (GRCm39) A548V probably damaging Het
Zc3h3 A T 15: 75,681,512 (GRCm39) M523K probably benign Het
Zc3h4 T C 7: 16,168,573 (GRCm39) L894P unknown Het
Zfp790 C T 7: 29,529,192 (GRCm39) H626Y probably benign Het
Zfp873 C T 10: 81,896,876 (GRCm39) H536Y possibly damaging Het
Zmym4 A T 4: 126,763,977 (GRCm39) N1354K probably damaging Het
Zscan20 A G 4: 128,486,275 (GRCm39) S142P possibly damaging Het
Other mutations in Ina
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01539:Ina APN 19 47,003,903 (GRCm39) missense probably damaging 0.96
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
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
Predicted Primers PCR Primer
(F):5'- TCGGATCGGAGCACTATTTG -3'
(R):5'- AAGTCAGGTCTGGTTTAGCCAC -3'

Sequencing Primer
(F):5'- TGTCCCGCAGCAATGTG -3'
(R):5'- AAGACGCCTGCAACGTG -3'
Posted On 2016-06-21