Incidental Mutation 'R5138:Tfrc'
ID 396319
Institutional Source Beutler Lab
Gene Symbol Tfrc
Ensembl Gene ENSMUSG00000022797
Gene Name transferrin receptor
Synonyms Mtvr1, E430033M20Rik, Trfr, p90, 2610028K12Rik, CD71, Mtvr-1, TfR1
MMRRC Submission 042724-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5138 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 32427738-32451612 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 32434027 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 85 (Y85*)
Ref Sequence ENSEMBL: ENSMUSP00000113028 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023486] [ENSMUST00000120680] [ENSMUST00000124243]
AlphaFold Q62351
Predicted Effect probably null
Transcript: ENSMUST00000023486
AA Change: Y85*
SMART Domains Protein: ENSMUSP00000023486
Gene: ENSMUSG00000022797
AA Change: Y85*

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 null
Transcript: ENSMUST00000120680
AA Change: Y85*
SMART Domains Protein: ENSMUSP00000113028
Gene: ENSMUSG00000022797
AA Change: Y85*

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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.9%
Validation Efficiency 97% (76/78)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931429L15Rik C A 9: 46,218,119 (GRCm39) probably null Het
Actr10 G A 12: 71,008,653 (GRCm39) G362E probably damaging Het
Aldh1a3 T C 7: 66,057,600 (GRCm39) T278A probably damaging Het
Arpp21 T A 9: 112,008,152 (GRCm39) K116M probably damaging Het
Arrdc3 T C 13: 81,039,184 (GRCm39) Y72H probably damaging Het
Atr T C 9: 95,819,649 (GRCm39) V2212A probably benign Het
Bcdin3d A G 15: 99,368,932 (GRCm39) F89S possibly damaging Het
Cacna1d C A 14: 30,212,929 (GRCm39) A44S probably benign Het
Cbx3 A G 6: 51,452,269 (GRCm39) E28G probably damaging Het
Cdh23 A T 10: 60,148,061 (GRCm39) F2722L probably damaging Het
Clec11a A G 7: 43,954,062 (GRCm39) V297A probably benign Het
Clk2 C A 3: 89,082,806 (GRCm39) probably benign Het
Clybl T A 14: 122,608,716 (GRCm39) C103S possibly damaging Het
Col12a1 T A 9: 79,551,248 (GRCm39) N2123Y probably damaging Het
Corin G A 5: 72,496,402 (GRCm39) P517L probably damaging Het
Ddhd2 A T 8: 26,217,726 (GRCm39) I717N probably damaging Het
Derl2 C A 11: 70,905,390 (GRCm39) G31* probably null Het
Dgcr8 A G 16: 18,095,941 (GRCm39) V523A probably damaging Het
Dnah8 T C 17: 30,984,571 (GRCm39) S3090P probably damaging Het
Dsp C A 13: 38,367,274 (GRCm39) H641N probably benign Het
Dsp A T 13: 38,379,821 (GRCm39) T1590S possibly damaging Het
Duox2 A T 2: 122,128,012 (GRCm39) L57Q probably damaging Het
Etfdh A T 3: 79,530,880 (GRCm39) V47D probably benign Het
Exoc1 T C 5: 76,715,922 (GRCm39) Y823H probably damaging Het
Fam81a C T 9: 70,006,457 (GRCm39) R185K probably benign Het
Fsip2 A G 2: 82,811,768 (GRCm39) I2696V probably benign Het
Glis1 GCACACA GCACA 4: 107,480,302 (GRCm39) probably null Het
Gtf3c1 A T 7: 125,246,664 (GRCm39) N1548K probably benign Het
H3c2 G A 13: 23,936,613 (GRCm39) R84H probably damaging Het
Hkdc1 A T 10: 62,234,470 (GRCm39) I575N probably damaging Het
Ifi208 A G 1: 173,518,239 (GRCm39) I449V probably null Het
Ino80 T C 2: 119,213,902 (GRCm39) T1223A probably damaging Het
Kctd9 T C 14: 67,966,197 (GRCm39) probably null Het
Khdrbs1 A G 4: 129,635,647 (GRCm39) Y103H probably benign Het
Kmt2e A G 5: 23,707,693 (GRCm39) H1752R probably damaging Het
Lrp5 T A 19: 3,678,319 (GRCm39) Q512L probably benign Het
Map2k5 T C 9: 63,170,440 (GRCm39) T293A probably damaging Het
Myo7a C A 7: 97,732,806 (GRCm39) R657L probably damaging Het
Myrfl A G 10: 116,631,963 (GRCm39) probably null Het
Nfatc2 G A 2: 168,378,229 (GRCm39) H258Y probably damaging Het
Nup205 T A 6: 35,202,801 (GRCm39) L1336Q probably damaging Het
Or10z1 A G 1: 174,078,395 (GRCm39) S33P probably damaging Het
Or4c113 T C 2: 88,885,291 (GRCm39) I160V probably benign Het
Or5an10 T C 19: 12,276,140 (GRCm39) M119V possibly damaging Het
Otog T A 7: 45,899,430 (GRCm39) S244T possibly damaging Het
Pcdh17 T G 14: 84,684,649 (GRCm39) I372S probably damaging Het
Pira13 A T 7: 3,827,556 (GRCm39) Y200* probably null Het
Plagl1 A G 10: 13,003,919 (GRCm39) probably benign Het
Pnpla7 T C 2: 24,931,115 (GRCm39) F910S possibly damaging Het
Prdm13 G A 4: 21,679,507 (GRCm39) P328S unknown Het
Prdm5 C T 6: 65,833,086 (GRCm39) Q152* probably null Het
Psat1 A G 19: 15,892,312 (GRCm39) F216S possibly damaging Het
Psg21 A T 7: 18,390,453 (GRCm39) M1K probably null Het
Rab11fip3 A T 17: 26,210,000 (GRCm39) S994T probably benign Het
Rax A G 18: 66,071,389 (GRCm39) probably benign Het
Rgs22 A T 15: 36,099,934 (GRCm39) S260R probably benign Het
Ryr2 A T 13: 11,675,175 (GRCm39) H3317Q probably damaging Het
Sc5d A G 9: 42,166,811 (GRCm39) Y243H probably damaging Het
Serpinf1 T C 11: 75,305,854 (GRCm39) E178G probably damaging Het
Slc15a3 A T 19: 10,833,369 (GRCm39) Y462F probably damaging Het
Slc9b1 G A 3: 135,063,534 (GRCm39) probably benign Het
Slit2 C T 5: 48,439,309 (GRCm39) P1111S probably damaging Het
Slit3 T C 11: 35,479,812 (GRCm39) Y330H probably damaging Het
Snw1 T C 12: 87,507,205 (GRCm39) K204E probably benign Het
Steap1 A G 5: 5,786,486 (GRCm39) I317T probably damaging Het
Sval2 A G 6: 41,838,879 (GRCm39) N20S probably damaging Het
Tmem87a T C 2: 120,202,026 (GRCm39) T412A possibly damaging Het
Utp20 T C 10: 88,583,239 (GRCm39) K2705E probably damaging Het
Vmn1r230 A T 17: 21,067,230 (GRCm39) K140* probably null Het
Vmn2r62 A T 7: 42,414,240 (GRCm39) H734Q possibly damaging Het
Zbtb8os T A 4: 129,240,719 (GRCm39) probably benign Het
Zfp608 A T 18: 55,024,871 (GRCm39) H1466Q probably damaging Het
Zfp957 C T 14: 79,450,362 (GRCm39) C479Y 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
IGL02401:Tfrc APN 16 32,435,999 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TTCCAGTAAGACAAGGTGTGCAC -3'
(R):5'- AGCTTACTTGATGGTGTCAGC -3'

Sequencing Primer
(F):5'- GTGTGCACCCATGTCTTAAACAGG -3'
(R):5'- CTTGATGGTGTCAGCAAACTC -3'
Posted On 2016-06-21