Incidental Mutation 'IGL00973:Frrs1l'
ID 27337
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 # IGL00973
Quality Score
Status
Chromosome 4
Chromosomal Location 56960136-56990391 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 56972369 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 111 (K111E)
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: K111E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000052507
Gene: ENSMUSG00000045589
AA Change: K111E

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 silent
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp10a G T 7: 58,457,218 (GRCm39) D906Y probably damaging Het
Cdh18 A G 15: 23,173,882 (GRCm39) K32R probably damaging Het
Chtf18 G A 17: 25,941,090 (GRCm39) A636V probably benign Het
Clcn6 A G 4: 148,098,245 (GRCm39) probably benign Het
Dspp A C 5: 104,324,758 (GRCm39) K374Q possibly damaging Het
Ehmt2 C T 17: 35,129,791 (GRCm39) R962C probably damaging Het
Galnt5 A G 2: 57,888,951 (GRCm39) T184A probably benign Het
Glud1 C T 14: 34,041,899 (GRCm39) T169I probably damaging Het
Hinfp T G 9: 44,209,436 (GRCm39) D283A probably benign Het
Hmcn2 C T 2: 31,273,833 (GRCm39) probably benign Het
Hs6st3 A T 14: 120,106,819 (GRCm39) Y409F possibly damaging Het
Ighv15-2 A T 12: 114,528,490 (GRCm39) V20D possibly damaging Het
Kif17 A G 4: 138,002,368 (GRCm39) T91A probably benign Het
Mical3 T C 6: 120,911,885 (GRCm39) probably benign Het
Myo1e C T 9: 70,246,069 (GRCm39) T420M probably damaging Het
Or8b12c C A 9: 37,716,078 (GRCm39) S290R probably damaging Het
Ovgp1 T A 3: 105,888,593 (GRCm39) Y316* probably null Het
Plekha1 T A 7: 130,512,743 (GRCm39) V313D probably damaging Het
Polr1e C A 4: 45,031,364 (GRCm39) probably benign Het
Prdm15 A T 16: 97,607,367 (GRCm39) probably benign Het
Ptpn4 T A 1: 119,669,101 (GRCm39) M250L probably benign Het
Rtn1 A T 12: 72,455,285 (GRCm39) L14Q probably benign Het
Sec24a T C 11: 51,620,404 (GRCm39) probably null Het
Sox7 A G 14: 64,185,636 (GRCm39) H224R probably benign Het
Styxl2 T C 1: 165,927,027 (GRCm39) S862G probably benign Het
Sucla2 T C 14: 73,828,347 (GRCm39) I318T possibly damaging Het
Tubb4b-ps1 A G 5: 7,229,408 (GRCm39) probably benign Het
Ube2o T A 11: 116,432,031 (GRCm39) K940M probably damaging Het
Usp20 A C 2: 30,894,962 (GRCm39) N149T probably damaging Het
Utp6 C T 11: 79,846,531 (GRCm39) W150* probably null Het
Wdr27 A C 17: 15,134,140 (GRCm39) H475Q probably benign Het
Other mutations in Frrs1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02248:Frrs1l APN 4 56,968,272 (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 2013-04-17