Incidental Mutation 'IGL03353:Frrs1l'
ID 419807
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: 0.425) question?
Stock # IGL03353
Quality Score
Status
Chromosome 4
Chromosomal Location 56960136-56990391 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 56968121 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 217 (T217M)
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: T217M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000052507
Gene: ENSMUSG00000045589
AA Change: T217M

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco1 A G 4: 40,175,893 (GRCm39) I176V probably damaging Het
Aldh1l2 T C 10: 83,358,777 (GRCm39) T73A probably benign Het
Btaf1 G T 19: 36,969,900 (GRCm39) L1191F probably damaging Het
Caskin1 G A 17: 24,718,331 (GRCm39) probably benign Het
Clcn3 T C 8: 61,376,022 (GRCm39) T624A probably benign Het
Dicer1 A G 12: 104,679,366 (GRCm39) V537A probably damaging Het
Dock4 A G 12: 40,867,757 (GRCm39) probably null Het
Dsp A T 13: 38,370,671 (GRCm39) Y858F probably damaging Het
Eya1 A G 1: 14,249,751 (GRCm39) Y550H probably damaging Het
Frmpd1 A G 4: 45,261,926 (GRCm39) K204E probably damaging Het
Fsip2 G A 2: 82,807,737 (GRCm39) S1352N possibly damaging Het
Hfm1 T C 5: 107,004,795 (GRCm39) D1177G probably damaging Het
Itih4 G A 14: 30,609,801 (GRCm39) V44I probably damaging Het
Kif2c A G 4: 117,023,533 (GRCm39) M393T probably benign Het
Klhdc10 T A 6: 30,447,991 (GRCm39) probably benign Het
Lrch1 G T 14: 75,095,482 (GRCm39) H119Q probably damaging Het
Ncam2 A T 16: 81,231,788 (GRCm39) N84I probably benign Het
Nlrx1 A G 9: 44,167,890 (GRCm39) V669A probably benign Het
Pdcl3 A G 1: 39,034,917 (GRCm39) N158S probably benign Het
Polk C T 13: 96,625,719 (GRCm39) A362T probably damaging Het
Rnf40 T A 7: 127,192,063 (GRCm39) L403* probably null Het
Skint5 T C 4: 113,599,379 (GRCm39) D720G unknown Het
Snx6 A G 12: 54,812,469 (GRCm39) probably benign Het
St6galnac2 A T 11: 116,581,128 (GRCm39) probably benign Het
Stk26 A T X: 49,959,275 (GRCm39) D62V probably damaging Het
Tgds G A 14: 118,364,919 (GRCm39) Q101* probably null Het
Tmem135 C A 7: 88,791,161 (GRCm39) R421L probably damaging Het
Tspyl4 T A 10: 34,174,135 (GRCm39) V209E probably damaging Het
Tulp2 C A 7: 45,165,696 (GRCm39) P98Q probably damaging Het
Txk C T 5: 72,893,745 (GRCm39) V12I probably benign Het
Usp30 A G 5: 114,259,119 (GRCm39) T398A probably benign Het
Vmn1r8 A G 6: 57,013,776 (GRCm39) T276A probably benign Het
Xdh G A 17: 74,202,781 (GRCm39) A1123V possibly damaging Het
Zfp60 T A 7: 27,447,759 (GRCm39) Y142* probably null Het
Other mutations in Frrs1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00973:Frrs1l APN 4 56,972,369 (GRCm39) missense probably damaging 1.00
IGL02248:Frrs1l APN 4 56,968,272 (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 2016-08-02