Incidental Mutation 'IGL02248:Frrs1l'
ID 286270
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Frrs1l
Ensembl Gene ENSMUSG00000045589
Gene Name ferric-chelate reductase 1 like
Synonyms 6430704M03Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.420) question?
Stock # IGL02248
Quality Score
Status
Chromosome 4
Chromosomal Location 56960136-56990391 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 56968272 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 167 (N167Y)
Ref Sequence ENSEMBL: ENSMUSP00000052507 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053681] [ENSMUST00000128276]
AlphaFold B1AXV0
Predicted Effect probably damaging
Transcript: ENSMUST00000053681
AA Change: N167Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000052507
Gene: ENSMUSG00000045589
AA Change: N167Y

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
DoH 143 232 1.96e-10 SMART
transmembrane domain 267 289 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000128276
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the outer-core of an alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptor protein in the brain. The encoded protein is thought to interact with inner-core components of the receptor, and play a role in the modulation of glutamate signaling. Mutations in this gene are associated with early infantile epileptic encephalopathy 37. [provided by RefSeq, Jul 2016]
Allele List at MGI

All alleles(8) : Gene trapped(8)
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ajap1 A T 4: 153,516,568 (GRCm39) S258T possibly damaging Het
Ap1g1 A G 8: 110,590,065 (GRCm39) probably benign Het
B4galnt4 T C 7: 140,647,721 (GRCm39) probably benign Het
Bltp1 T C 3: 37,023,439 (GRCm39) probably null Het
Btnl9 T C 11: 49,071,625 (GRCm39) D66G probably benign Het
Casp1 T A 9: 5,299,452 (GRCm39) H60Q probably benign Het
Clec4n T G 6: 123,207,527 (GRCm39) S30R probably damaging Het
Col22a1 A G 15: 71,671,297 (GRCm39) L1021P unknown Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Fbxw7 A G 3: 84,810,940 (GRCm39) N22D possibly damaging Het
Fsip2 T A 2: 82,813,116 (GRCm39) I3145K possibly damaging Het
Gcc1 G T 6: 28,418,513 (GRCm39) R607S probably damaging Het
Gm14443 A T 2: 175,012,107 (GRCm39) I113K probably benign Het
Ica1 T C 6: 8,758,387 (GRCm39) probably benign Het
Igkv4-69 T A 6: 69,261,305 (GRCm39) probably benign Het
Igkv9-120 G T 6: 68,027,221 (GRCm39) C45F probably damaging Het
Lrp2 T C 2: 69,313,152 (GRCm39) Y2483C probably damaging Het
Lrpprc A G 17: 85,078,895 (GRCm39) L273S probably damaging Het
Myh9 A T 15: 77,670,814 (GRCm39) L476Q probably damaging Het
Nab2 T C 10: 127,499,109 (GRCm39) I390V probably benign Het
Notch4 A T 17: 34,806,172 (GRCm39) D1756V probably damaging Het
Nup54 T C 5: 92,576,188 (GRCm39) probably null Het
Or14c41 T A 7: 86,235,312 (GRCm39) Y276* probably null Het
Or8k38 A T 2: 86,488,061 (GRCm39) V247E probably damaging Het
Reln T C 5: 22,115,990 (GRCm39) Y3006C probably damaging Het
Rpe65 T A 3: 159,330,342 (GRCm39) L503Q probably damaging Het
Serinc5 A G 13: 92,842,648 (GRCm39) D366G probably damaging Het
Slain1 A G 14: 103,923,213 (GRCm39) D102G probably damaging Het
Smo A T 6: 29,757,291 (GRCm39) I469F possibly damaging Het
Tomm70a T A 16: 56,958,465 (GRCm39) S273T probably benign Het
Trak1 G T 9: 121,275,860 (GRCm39) V281L probably damaging Het
Trib2 T C 12: 15,843,967 (GRCm39) N225S possibly damaging Het
Vmn2r23 A T 6: 123,718,703 (GRCm39) K685N probably damaging Het
Zcchc4 T A 5: 52,953,418 (GRCm39) H142Q probably damaging Het
Zfp521 T C 18: 13,977,303 (GRCm39) I1037V possibly damaging Het
Other mutations in Frrs1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00973:Frrs1l APN 4 56,972,369 (GRCm39) missense probably damaging 1.00
IGL03353:Frrs1l APN 4 56,968,121 (GRCm39) missense probably damaging 1.00
F5493:Frrs1l UTSW 4 56,968,293 (GRCm39) missense probably benign 0.13
PIT4531001:Frrs1l UTSW 4 56,990,144 (GRCm39) missense unknown
R3002:Frrs1l UTSW 4 56,990,139 (GRCm39) unclassified probably benign
R7199:Frrs1l UTSW 4 56,972,282 (GRCm39) missense probably damaging 1.00
R7230:Frrs1l UTSW 4 56,972,372 (GRCm39) missense probably damaging 1.00
R7312:Frrs1l UTSW 4 56,968,230 (GRCm39) missense probably benign 0.32
R9673:Frrs1l UTSW 4 56,990,191 (GRCm39) missense
Posted On 2015-04-16