Incidental Mutation 'IGL02401:Tfrc'
ID 291888
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tfrc
Ensembl Gene ENSMUSG00000022797
Gene Name transferrin receptor
Synonyms Mtvr1, E430033M20Rik, Trfr, p90, 2610028K12Rik, CD71, Mtvr-1, TfR1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02401
Quality Score
Status
Chromosome 16
Chromosomal Location 32427738-32451612 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 32435999 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 225 (S225R)
Ref Sequence ENSEMBL: ENSMUSP00000113028 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023486] [ENSMUST00000120680] [ENSMUST00000124243]
AlphaFold Q62351
Predicted Effect probably damaging
Transcript: ENSMUST00000023486
AA Change: S225R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023486
Gene: ENSMUSG00000022797
AA Change: S225R

DomainStartEndE-ValueType
transmembrane domain 66 88 N/A INTRINSIC
Pfam:PA 229 348 1.1e-12 PFAM
Pfam:Peptidase_M28 390 597 1e-13 PFAM
Pfam:TFR_dimer 640 753 3.4e-11 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000120680
AA Change: S225R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113028
Gene: ENSMUSG00000022797
AA Change: S225R

DomainStartEndE-ValueType
transmembrane domain 66 88 N/A INTRINSIC
Pfam:PA 225 349 9.2e-11 PFAM
Pfam:Peptidase_M28 403 502 3.5e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124243
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137901
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155929
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231912
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a cell surface receptor necessary for cellular iron uptake by the process of receptor-mediated endocytosis. This receptor is required for erythropoiesis and neurologic development. Mice that are deficient in this receptor show impaired erythroid development and abnormal iron homeostasis. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygous mutant embryos do not survive past E12.5, exhibiting anemia, hydrops fetalis, and neurological defects. Haploinsufficiency results in abnromal erythrocytes and tissue iron deficiency. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef18 C T 8: 3,487,078 (GRCm39) R266C probably damaging Het
Asb11 A T X: 163,241,753 (GRCm39) probably benign Het
Cnot1 G A 8: 96,482,761 (GRCm39) T764M possibly damaging Het
Galns A G 8: 123,331,938 (GRCm39) M59T probably damaging Het
Gm5884 A G 6: 128,622,377 (GRCm39) noncoding transcript Het
Gm9312 A C 12: 24,302,106 (GRCm39) noncoding transcript Het
Lama3 T C 18: 12,690,784 (GRCm39) F1268S probably benign Het
Lrp5 A G 19: 3,643,585 (GRCm39) C1347R probably damaging Het
Lrrfip1 T C 1: 91,042,650 (GRCm39) S352P probably benign Het
Mcfd2 T C 17: 87,564,592 (GRCm39) T97A probably damaging Het
Mroh2b A G 15: 4,929,983 (GRCm39) N23S possibly damaging Het
Nr1i3 A T 1: 171,043,942 (GRCm39) probably benign Het
Or4c10b T C 2: 89,711,797 (GRCm39) F209S probably damaging Het
Or8b48 C T 9: 38,492,651 (GRCm39) P26L probably damaging Het
Orm2 A C 4: 63,281,568 (GRCm39) I100L probably benign Het
Pbsn A G X: 76,886,129 (GRCm39) M126T probably benign Het
Rpgr G T X: 10,024,956 (GRCm39) T1026K possibly damaging Het
Sdhaf3 C T 6: 7,038,855 (GRCm39) T59M probably benign Het
Shq1 T C 6: 100,625,208 (GRCm39) Y217C probably damaging Het
Slc17a8 A T 10: 89,412,522 (GRCm39) probably null Het
Slc6a19 A G 13: 73,848,709 (GRCm39) I15T probably damaging Het
Smarcd3 A T 5: 24,798,717 (GRCm39) V335E probably damaging Het
Sugp2 A G 8: 70,695,821 (GRCm39) T265A possibly damaging Het
Vsig10l T A 7: 43,113,468 (GRCm39) L140Q probably damaging Het
Zbtb46 T A 2: 181,065,245 (GRCm39) T302S probably benign Het
Znhit1 T C 5: 137,011,513 (GRCm39) Y105C probably damaging Het
Other mutations in Tfrc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01081:Tfrc APN 16 32,443,646 (GRCm39) critical splice donor site probably null
IGL01553:Tfrc APN 16 32,447,403 (GRCm39) missense probably benign 0.07
IGL01667:Tfrc APN 16 32,443,261 (GRCm39) unclassified probably benign
IGL01761:Tfrc APN 16 32,447,369 (GRCm39) missense probably damaging 1.00
IGL02085:Tfrc APN 16 32,440,004 (GRCm39) missense probably benign 0.14
IGL02093:Tfrc APN 16 32,449,012 (GRCm39) missense probably benign 0.06
IGL02548:Tfrc APN 16 32,443,640 (GRCm39) nonsense probably null
IGL02715:Tfrc APN 16 32,443,189 (GRCm39) missense probably benign
IGL03157:Tfrc APN 16 32,439,223 (GRCm39) missense probably benign 0.00
IGL03242:Tfrc APN 16 32,448,930 (GRCm39) missense probably damaging 1.00
IGL03410:Tfrc APN 16 32,443,649 (GRCm39) splice site probably null
R0034:Tfrc UTSW 16 32,434,214 (GRCm39) critical splice donor site probably null
R0098:Tfrc UTSW 16 32,442,244 (GRCm39) missense probably damaging 0.98
R0098:Tfrc UTSW 16 32,442,244 (GRCm39) missense probably damaging 0.98
R0508:Tfrc UTSW 16 32,448,997 (GRCm39) missense probably damaging 1.00
R1474:Tfrc UTSW 16 32,445,467 (GRCm39) missense probably damaging 0.99
R1613:Tfrc UTSW 16 32,442,193 (GRCm39) missense probably damaging 1.00
R1694:Tfrc UTSW 16 32,433,443 (GRCm39) missense probably damaging 0.99
R2430:Tfrc UTSW 16 32,445,529 (GRCm39) missense probably damaging 1.00
R3807:Tfrc UTSW 16 32,435,644 (GRCm39) missense possibly damaging 0.47
R4613:Tfrc UTSW 16 32,437,475 (GRCm39) missense probably damaging 1.00
R4661:Tfrc UTSW 16 32,448,969 (GRCm39) missense probably damaging 0.99
R4974:Tfrc UTSW 16 32,437,097 (GRCm39) missense probably damaging 0.99
R5138:Tfrc UTSW 16 32,434,027 (GRCm39) nonsense probably null
R5668:Tfrc UTSW 16 32,442,194 (GRCm39) missense probably damaging 1.00
R5867:Tfrc UTSW 16 32,439,230 (GRCm39) missense possibly damaging 0.71
R5942:Tfrc UTSW 16 32,445,533 (GRCm39) missense possibly damaging 0.65
R6185:Tfrc UTSW 16 32,437,090 (GRCm39) missense probably benign 0.19
R6417:Tfrc UTSW 16 32,449,057 (GRCm39) missense probably damaging 0.99
R7453:Tfrc UTSW 16 32,437,867 (GRCm39) missense probably damaging 1.00
R7559:Tfrc UTSW 16 32,440,235 (GRCm39) splice site probably null
R7791:Tfrc UTSW 16 32,437,985 (GRCm39) missense probably benign 0.00
R7792:Tfrc UTSW 16 32,437,985 (GRCm39) missense probably benign 0.00
R7793:Tfrc UTSW 16 32,437,985 (GRCm39) missense probably benign 0.00
R7830:Tfrc UTSW 16 32,437,985 (GRCm39) missense probably benign 0.00
R7832:Tfrc UTSW 16 32,437,985 (GRCm39) missense probably benign 0.00
R7943:Tfrc UTSW 16 32,449,039 (GRCm39) missense probably benign
R7974:Tfrc UTSW 16 32,440,101 (GRCm39) missense probably null 0.89
R7980:Tfrc UTSW 16 32,435,967 (GRCm39) missense probably benign 0.04
R8055:Tfrc UTSW 16 32,437,474 (GRCm39) missense probably benign 0.24
R8215:Tfrc UTSW 16 32,443,848 (GRCm39) missense probably damaging 1.00
R9095:Tfrc UTSW 16 32,433,571 (GRCm39) missense possibly damaging 0.77
R9379:Tfrc UTSW 16 32,443,819 (GRCm39) missense probably damaging 1.00
R9677:Tfrc UTSW 16 32,434,179 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16