Incidental Mutation 'IGL01924:Frrs1'
ID 180228
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Frrs1
Ensembl Gene ENSMUSG00000033386
Gene Name ferric-chelate reductase 1
Synonyms Sdfr2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.149) question?
Stock # IGL01924
Quality Score
Status
Chromosome 3
Chromosomal Location 116653212-116701363 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 116678888 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 237 (G237R)
Ref Sequence ENSEMBL: ENSMUSP00000143255 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040260] [ENSMUST00000195905] [ENSMUST00000199626]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000040260
AA Change: G237R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039487
Gene: ENSMUSG00000033386
AA Change: G237R

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:Reeler 32 155 1.1e-34 PFAM
low complexity region 171 184 N/A INTRINSIC
DoH 242 331 7.72e-9 SMART
B561 372 501 1.87e-42 SMART
transmembrane domain 514 536 N/A INTRINSIC
transmembrane domain 570 589 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000195905
AA Change: G237R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143255
Gene: ENSMUSG00000033386
AA Change: G237R

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:Reeler 31 156 4.6e-40 PFAM
low complexity region 171 184 N/A INTRINSIC
DoH 242 331 7.72e-9 SMART
B561 372 501 1.87e-42 SMART
transmembrane domain 514 536 N/A INTRINSIC
transmembrane domain 570 589 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000199626
SMART Domains Protein: ENSMUSP00000143546
Gene: ENSMUSG00000033386

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the cytochrome b561 (CYB561; MIM 600019) family, including FRRS1, reduce ferric to ferrous iron before its transport from the endosome to the cytoplasm (Vargas et al., 2003 [PubMed 14499595]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb C T 5: 114,362,047 (GRCm39) probably benign Het
Adamts13 A G 2: 26,886,595 (GRCm39) E938G possibly damaging Het
Aox1 C T 1: 58,326,902 (GRCm39) T167I possibly damaging Het
Apba3 G T 10: 81,108,907 (GRCm39) A557S probably benign Het
Atad2b T C 12: 5,084,093 (GRCm39) L1382P probably damaging Het
Atrn C T 2: 130,777,485 (GRCm39) T178I probably damaging Het
B4galnt1 A G 10: 127,002,630 (GRCm39) S88G probably benign Het
Baz2b T C 2: 59,765,615 (GRCm39) K887E probably damaging Het
Castor2 T C 5: 134,164,441 (GRCm39) F134S probably benign Het
Ccdc162 A C 10: 41,445,883 (GRCm39) F430V probably damaging Het
Cdc42bpb T A 12: 111,283,887 (GRCm39) probably benign Het
Cfhr4 G A 1: 139,666,944 (GRCm39) L444F probably damaging Het
Chit1 A G 1: 134,077,148 (GRCm39) D317G probably benign Het
Chrnb1 A T 11: 69,685,845 (GRCm39) probably benign Het
Cobl G T 11: 12,204,596 (GRCm39) T620K probably benign Het
Creld1 T C 6: 113,460,921 (GRCm39) F20L probably benign Het
Csmd2 A T 4: 128,453,740 (GRCm39) D3475V unknown Het
Cyp3a57 A G 5: 145,309,439 (GRCm39) D259G probably benign Het
Dbnl A G 11: 5,747,142 (GRCm39) Y224C probably damaging Het
Det1 A T 7: 78,493,571 (GRCm39) C144* probably null Het
Fbxo47 G T 11: 97,746,986 (GRCm39) A360D probably damaging Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Gm5862 A C 5: 26,227,769 (GRCm39) W41G probably benign Het
Gria2 T C 3: 80,617,638 (GRCm39) T372A probably benign Het
Hmcn2 A T 2: 31,288,929 (GRCm39) Q2246L probably benign Het
Ide T C 19: 37,249,563 (GRCm39) M930V unknown Het
Kdm5a T C 6: 120,371,216 (GRCm39) probably null Het
Khnyn A G 14: 56,132,426 (GRCm39) T625A probably benign Het
Lrrtm1 T C 6: 77,221,169 (GRCm39) F209L possibly damaging Het
Med13 C A 11: 86,199,522 (GRCm39) probably benign Het
Myom2 A G 8: 15,119,685 (GRCm39) E147G probably benign Het
Myrip T A 9: 120,217,330 (GRCm39) V88D probably damaging Het
Nbeal2 T C 9: 110,460,482 (GRCm39) H1784R probably benign Het
Nlrp4e T A 7: 23,020,255 (GRCm39) C247* probably null Het
Nup54 G A 5: 92,572,294 (GRCm39) P252L probably benign Het
Or51ag1 A G 7: 103,156,003 (GRCm39) I50T possibly damaging Het
Otoa C A 7: 120,705,191 (GRCm39) N244K probably damaging Het
Pbrm1 G A 14: 30,804,561 (GRCm39) R960H probably damaging Het
Ptcd3 A T 6: 71,875,411 (GRCm39) N190K probably damaging Het
Rhobtb1 T A 10: 69,106,134 (GRCm39) L233H probably damaging Het
Sec24c T A 14: 20,739,757 (GRCm39) F545I probably damaging Het
Slc6a15 T C 10: 103,240,686 (GRCm39) probably null Het
Slitrk1 G A 14: 109,148,671 (GRCm39) A680V probably benign Het
Smpd1 C T 7: 105,204,655 (GRCm39) S178L probably benign Het
Spindoc A G 19: 7,360,042 (GRCm39) L42P probably damaging Het
Tenm4 A G 7: 96,544,419 (GRCm39) E2145G probably damaging Het
Tmem144 G T 3: 79,746,501 (GRCm39) A18E probably damaging Het
Tmem213 A T 6: 38,086,373 (GRCm39) S10C possibly damaging Het
Trav6-3 A T 14: 53,667,800 (GRCm39) I102L probably benign Het
Trip11 T G 12: 101,853,143 (GRCm39) N483T possibly damaging Het
Unc13b C T 4: 43,239,385 (GRCm39) R1056* probably null Het
Wdr27 T G 17: 15,137,488 (GRCm39) K433N probably damaging Het
Wls C A 3: 159,607,080 (GRCm39) S189* probably null Het
Yeats2 A G 16: 20,024,917 (GRCm39) N706D probably damaging Het
Zbp1 A G 2: 173,054,047 (GRCm39) V158A probably benign Het
Zfp595 G T 13: 67,465,847 (GRCm39) H139N possibly damaging Het
Other mutations in Frrs1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00577:Frrs1 APN 3 116,696,049 (GRCm39) missense probably damaging 1.00
IGL00792:Frrs1 APN 3 116,678,944 (GRCm39) splice site probably null
IGL01395:Frrs1 APN 3 116,694,654 (GRCm39) missense probably benign 0.02
IGL01504:Frrs1 APN 3 116,694,307 (GRCm39) missense probably damaging 1.00
IGL01548:Frrs1 APN 3 116,678,834 (GRCm39) missense probably damaging 1.00
IGL03037:Frrs1 APN 3 116,696,116 (GRCm39) unclassified probably benign
IGL03104:Frrs1 APN 3 116,675,431 (GRCm39) missense probably benign 0.00
IGL03143:Frrs1 APN 3 116,692,836 (GRCm39) missense probably damaging 0.99
R0023:Frrs1 UTSW 3 116,690,437 (GRCm39) missense probably damaging 1.00
R0023:Frrs1 UTSW 3 116,690,437 (GRCm39) missense probably damaging 1.00
R0051:Frrs1 UTSW 3 116,678,946 (GRCm39) splice site probably benign
R0051:Frrs1 UTSW 3 116,678,946 (GRCm39) splice site probably benign
R0107:Frrs1 UTSW 3 116,690,365 (GRCm39) missense probably damaging 0.97
R0138:Frrs1 UTSW 3 116,675,456 (GRCm39) missense possibly damaging 0.65
R0532:Frrs1 UTSW 3 116,676,813 (GRCm39) missense probably benign
R0646:Frrs1 UTSW 3 116,696,070 (GRCm39) missense possibly damaging 0.50
R1534:Frrs1 UTSW 3 116,672,057 (GRCm39) missense probably benign 0.14
R1596:Frrs1 UTSW 3 116,676,848 (GRCm39) intron probably benign
R1880:Frrs1 UTSW 3 116,690,444 (GRCm39) critical splice donor site probably null
R2193:Frrs1 UTSW 3 116,671,994 (GRCm39) missense probably damaging 1.00
R2851:Frrs1 UTSW 3 116,678,778 (GRCm39) missense probably benign 0.00
R3177:Frrs1 UTSW 3 116,692,873 (GRCm39) missense probably damaging 1.00
R3277:Frrs1 UTSW 3 116,692,873 (GRCm39) missense probably damaging 1.00
R3772:Frrs1 UTSW 3 116,672,036 (GRCm39) missense possibly damaging 0.71
R4457:Frrs1 UTSW 3 116,690,377 (GRCm39) missense probably benign 0.10
R4887:Frrs1 UTSW 3 116,696,065 (GRCm39) makesense probably null
R4957:Frrs1 UTSW 3 116,678,897 (GRCm39) missense probably benign 0.00
R5015:Frrs1 UTSW 3 116,672,088 (GRCm39) missense probably damaging 1.00
R5080:Frrs1 UTSW 3 116,696,585 (GRCm39) missense probably benign 0.02
R5256:Frrs1 UTSW 3 116,696,749 (GRCm39) missense possibly damaging 0.88
R5280:Frrs1 UTSW 3 116,674,545 (GRCm39) missense probably benign 0.00
R5597:Frrs1 UTSW 3 116,671,887 (GRCm39) start gained probably benign
R5887:Frrs1 UTSW 3 116,690,399 (GRCm39) missense probably benign 0.32
R6210:Frrs1 UTSW 3 116,672,080 (GRCm39) missense probably benign 0.19
R6268:Frrs1 UTSW 3 116,696,748 (GRCm39) missense probably damaging 0.98
R6378:Frrs1 UTSW 3 116,694,639 (GRCm39) missense possibly damaging 0.95
R7165:Frrs1 UTSW 3 116,671,920 (GRCm39) missense probably benign 0.18
R7220:Frrs1 UTSW 3 116,674,425 (GRCm39) nonsense probably null
R7301:Frrs1 UTSW 3 116,689,212 (GRCm39) missense possibly damaging 0.47
R7312:Frrs1 UTSW 3 116,675,426 (GRCm39) missense probably damaging 1.00
R7862:Frrs1 UTSW 3 116,685,529 (GRCm39) missense possibly damaging 0.83
R8032:Frrs1 UTSW 3 116,672,009 (GRCm39) missense probably benign 0.00
R8114:Frrs1 UTSW 3 116,675,425 (GRCm39) missense probably damaging 0.97
R8283:Frrs1 UTSW 3 116,671,952 (GRCm39) missense probably benign 0.01
R8353:Frrs1 UTSW 3 116,692,822 (GRCm39) missense possibly damaging 0.81
R8923:Frrs1 UTSW 3 116,696,070 (GRCm39) missense possibly damaging 0.50
R9302:Frrs1 UTSW 3 116,692,899 (GRCm39) critical splice donor site probably null
R9336:Frrs1 UTSW 3 116,684,582 (GRCm39) missense probably benign
R9455:Frrs1 UTSW 3 116,695,972 (GRCm39) missense possibly damaging 0.93
X0063:Frrs1 UTSW 3 116,696,071 (GRCm39) missense possibly damaging 0.67
Z1177:Frrs1 UTSW 3 116,675,467 (GRCm39) missense probably damaging 0.96
Posted On 2014-05-07