Incidental Mutation 'IGL02401:Tfrc'
ID291888
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tfrc
Ensembl Gene ENSMUSG00000022797
Gene Nametransferrin receptor
SynonymsMtvr-1, E430033M20Rik, Mtvr1, Trfr, 2610028K12Rik, p90, TfR1, CD71
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02401
Quality Score
Status
Chromosome16
Chromosomal Location32608920-32632794 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 32617181 bp
ZygosityHeterozygous
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]
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: 3,437,078 R266C probably damaging Het
Asb11 A T X: 164,458,757 probably benign Het
Cnot1 G A 8: 95,756,133 T764M possibly damaging Het
Galns A G 8: 122,605,199 M59T probably damaging Het
Gm5884 A G 6: 128,645,414 noncoding transcript Het
Gm9312 A C 12: 24,252,105 noncoding transcript Het
Lama3 T C 18: 12,557,727 F1268S probably benign Het
Lrp5 A G 19: 3,593,585 C1347R probably damaging Het
Lrrfip1 T C 1: 91,114,928 S352P probably benign Het
Mcfd2 T C 17: 87,257,164 T97A probably damaging Het
Mroh2b A G 15: 4,900,501 N23S possibly damaging Het
Nr1i3 A T 1: 171,216,373 probably benign Het
Olfr1257 T C 2: 89,881,453 F209S probably damaging Het
Olfr912 C T 9: 38,581,355 P26L probably damaging Het
Orm2 A C 4: 63,363,331 I100L probably benign Het
Pbsn A G X: 77,842,523 M126T probably benign Het
Rpgr G T X: 10,158,717 T1026K possibly damaging Het
Sdhaf3 C T 6: 7,038,855 T59M probably benign Het
Shq1 T C 6: 100,648,247 Y217C probably damaging Het
Slc17a8 A T 10: 89,576,660 probably null Het
Slc6a19 A G 13: 73,700,590 I15T probably damaging Het
Smarcd3 A T 5: 24,593,719 V335E probably damaging Het
Sugp2 A G 8: 70,243,171 T265A possibly damaging Het
Vsig10l T A 7: 43,464,044 L140Q probably damaging Het
Zbtb46 T A 2: 181,423,452 T302S probably benign Het
Znhit1 T C 5: 136,982,659 Y105C probably damaging Het
Other mutations in Tfrc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01081:Tfrc APN 16 32624828 critical splice donor site probably null
IGL01553:Tfrc APN 16 32628585 missense probably benign 0.07
IGL01667:Tfrc APN 16 32624443 unclassified probably benign
IGL01761:Tfrc APN 16 32628551 missense probably damaging 1.00
IGL02085:Tfrc APN 16 32621186 missense probably benign 0.14
IGL02093:Tfrc APN 16 32630194 missense probably benign 0.06
IGL02548:Tfrc APN 16 32624822 nonsense probably null
IGL02715:Tfrc APN 16 32624371 missense probably benign
IGL03157:Tfrc APN 16 32620405 missense probably benign 0.00
IGL03242:Tfrc APN 16 32630112 missense probably damaging 1.00
IGL03410:Tfrc APN 16 32624831 splice site probably null
R0034:Tfrc UTSW 16 32615396 critical splice donor site probably null
R0098:Tfrc UTSW 16 32623426 missense probably damaging 0.98
R0098:Tfrc UTSW 16 32623426 missense probably damaging 0.98
R0508:Tfrc UTSW 16 32630179 missense probably damaging 1.00
R1474:Tfrc UTSW 16 32626649 missense probably damaging 0.99
R1613:Tfrc UTSW 16 32623375 missense probably damaging 1.00
R1694:Tfrc UTSW 16 32614625 missense probably damaging 0.99
R2430:Tfrc UTSW 16 32626711 missense probably damaging 1.00
R3807:Tfrc UTSW 16 32616826 missense possibly damaging 0.47
R4613:Tfrc UTSW 16 32618657 missense probably damaging 1.00
R4661:Tfrc UTSW 16 32630151 missense probably damaging 0.99
R4974:Tfrc UTSW 16 32618279 missense probably damaging 0.99
R5138:Tfrc UTSW 16 32615209 nonsense probably null
R5668:Tfrc UTSW 16 32623376 missense probably damaging 1.00
R5867:Tfrc UTSW 16 32620412 missense possibly damaging 0.71
R5942:Tfrc UTSW 16 32626715 missense possibly damaging 0.65
R6185:Tfrc UTSW 16 32618272 missense probably benign 0.19
R6417:Tfrc UTSW 16 32630239 missense probably damaging 0.99
R7453:Tfrc UTSW 16 32619049 missense probably damaging 1.00
R7559:Tfrc UTSW 16 32621417 intron probably null
R7791:Tfrc UTSW 16 32619167 missense probably benign 0.00
R7792:Tfrc UTSW 16 32619167 missense probably benign 0.00
R7793:Tfrc UTSW 16 32619167 missense probably benign 0.00
R7830:Tfrc UTSW 16 32619167 missense probably benign 0.00
R7832:Tfrc UTSW 16 32619167 missense probably benign 0.00
R7915:Tfrc UTSW 16 32619167 missense probably benign 0.00
R8055:Tfrc UTSW 16 32618656 missense probably benign 0.24
Posted On2015-04-16