Incidental Mutation 'R3727:Ina'
ID 270856
Institutional Source Beutler Lab
Gene Symbol Ina
Ensembl Gene ENSMUSG00000034336
Gene Name internexin neuronal intermediate filament protein, alpha
Synonyms NF66, NF-66
MMRRC Submission 040718-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3727 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 47003137-47013766 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 47004158 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 322 (R322H)
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: R322H

PolyPhen 2 Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000041347
Gene: ENSMUSG00000034336
AA Change: R322H

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: 98.5%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 100% (39/39)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago2 C T 15: 72,985,706 (GRCm39) V630M probably damaging Het
Alk T C 17: 72,208,395 (GRCm39) probably benign Het
Atp6v0a1 T A 11: 100,921,246 (GRCm39) S243T probably benign Het
BC035044 C A 6: 128,867,822 (GRCm39) G37* probably null Het
C3 G T 17: 57,514,379 (GRCm39) N1435K possibly damaging Het
Caly T C 7: 139,650,417 (GRCm39) E175G probably damaging Het
Ccng2 T C 5: 93,422,810 (GRCm39) F330S probably damaging Het
Cemip2 G A 19: 21,822,075 (GRCm39) A1157T probably benign Het
Cyp2c38 A G 19: 39,380,739 (GRCm39) probably benign Het
Cypt1 T A X: 16,389,674 (GRCm39) L128* probably null Het
Dmgdh A G 13: 93,828,575 (GRCm39) N239D probably damaging Het
Dnah8 C T 17: 30,958,622 (GRCm39) Q2155* probably null Het
Dpp3 A G 19: 4,973,213 (GRCm39) I127T probably benign Het
Eps15 G T 4: 109,227,882 (GRCm39) probably benign Het
Exosc10 A G 4: 148,649,734 (GRCm39) D388G probably damaging Het
Flt3 C A 5: 147,291,733 (GRCm39) R572S probably damaging Het
Gm44501 T C 17: 40,887,506 (GRCm39) F8S unknown Het
Hormad2 C A 11: 4,358,598 (GRCm39) G270C probably benign Het
Ifrd2 C T 9: 107,468,881 (GRCm39) R40* probably null Het
Kif13b A G 14: 65,003,197 (GRCm39) probably benign Het
Lrp2 T C 2: 69,340,773 (GRCm39) N1034S probably damaging Het
Macf1 T A 4: 123,353,104 (GRCm39) E1770V probably damaging Het
Mpi T C 9: 57,452,132 (GRCm39) I381M possibly damaging Het
Nfix CAAAAA CAAAA 8: 85,442,876 (GRCm39) probably null Het
Nt5c C T 11: 115,381,474 (GRCm39) W185* probably null Het
Or2j3 A T 17: 38,616,310 (GRCm39) I14N possibly damaging Het
Or2y1e G A 11: 49,218,622 (GRCm39) R128H probably benign Het
Pcdhga9 G A 18: 37,871,995 (GRCm39) R608H probably benign Het
Pdzrn3 T A 6: 101,133,906 (GRCm39) D441V probably damaging Het
Rab42 A G 4: 132,029,964 (GRCm39) M86T probably benign Het
Slc52a3 C T 2: 151,847,701 (GRCm39) P270S probably benign Het
Stpg2 T C 3: 139,004,257 (GRCm39) F278S probably damaging Het
Styxl2 G A 1: 165,927,075 (GRCm39) R846C probably damaging Het
Tmem240 T C 4: 155,824,235 (GRCm39) probably benign Het
Vmn2r22 A G 6: 123,627,584 (GRCm39) L4P possibly damaging Het
Vmn2r95 C T 17: 18,661,744 (GRCm39) Q497* probably null Het
Wnk1 T C 6: 119,969,414 (GRCm39) H347R probably damaging Het
Zmym2 A T 14: 57,156,806 (GRCm39) probably benign 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
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
Predicted Primers PCR Primer
(F):5'- TAAACCAGACCTGACTTCGGC -3'
(R):5'- ACTGACGCCTCTAGTCAACG -3'

Sequencing Primer
(F):5'- TTCGGCGCTGAGGGAGATC -3'
(R):5'- GCACCAGTTTACAGGGAGTG -3'
Posted On 2015-03-18