Incidental Mutation 'R0411:Trf'
ID 36675
Institutional Source Beutler Lab
Gene Symbol Trf
Ensembl Gene ENSMUSG00000032554
Gene Name transferrin
Synonyms HP, Tfn
MMRRC Submission 038613-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0411 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 103086075-103107485 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 103094700 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 92 (V92M)
Ref Sequence ENSEMBL: ENSMUSP00000128390 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035158] [ENSMUST00000112645] [ENSMUST00000164377] [ENSMUST00000165296] [ENSMUST00000166836] [ENSMUST00000170904]
AlphaFold Q921I1
Predicted Effect probably damaging
Transcript: ENSMUST00000035158
AA Change: V453M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000035158
Gene: ENSMUSG00000032554
AA Change: V453M

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
TR_FER 25 352 5.04e-194 SMART
TR_FER 360 686 8.64e-193 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000112503
Predicted Effect probably damaging
Transcript: ENSMUST00000112645
AA Change: V453M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108264
Gene: ENSMUSG00000032554
AA Change: V453M

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
TR_FER 25 352 5.04e-194 SMART
TR_FER 360 686 8.64e-193 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000164377
SMART Domains Protein: ENSMUSP00000128647
Gene: ENSMUSG00000032554

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Transferrin 25 72 6.6e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000165296
SMART Domains Protein: ENSMUSP00000129013
Gene: ENSMUSG00000032554

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
TR_FER 25 171 5.58e-15 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000166836
AA Change: V439M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127808
Gene: ENSMUSG00000090639
AA Change: V439M

DomainStartEndE-ValueType
low complexity region 6 19 N/A INTRINSIC
TR_FER 25 338 4.98e-175 SMART
TR_FER 346 672 8.64e-193 SMART
Pfam:Arf 758 928 1.5e-15 PFAM
Pfam:SRPRB 769 948 1.4e-73 PFAM
Pfam:MMR_HSR1 773 888 7.8e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000170904
AA Change: V92M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128390
Gene: ENSMUSG00000032554
AA Change: V92M

DomainStartEndE-ValueType
TR_FER 15 275 7.6e-139 SMART
Predicted Effect unknown
Transcript: ENSMUST00000168142
AA Change: V39M
SMART Domains Protein: ENSMUSP00000128609
Gene: ENSMUSG00000032554
AA Change: V39M

DomainStartEndE-ValueType
TR_FER 2 249 1.87e-115 SMART
Meta Mutation Damage Score 0.4633 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 97% (66/68)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a glycoprotein with an approximate molecular weight of 76.5 kDa. It is thought to have been created as a result of an ancient gene duplication event that led to generation of homologous C and N-terminal domains each of which binds one ion of ferric iron. The function of this protein is to transport iron from the intestine, reticuloendothelial system, and liver parenchymal cells to all proliferating cells in the body. This protein may also have a physiologic role as granulocyte/pollen-binding protein (GPBP) involved in the removal of certain organic matter and allergens from serum. [provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygotes for a spontaneous mutation exhibit refractory iron-deficient, hypochromic, microcytic anemia with iron-loading in the liver, pancreas, heart and brain. Mutants usually die by two weeks of age. Heterozygotes show minor increases in iron stores. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik A G 5: 64,053,834 (GRCm39) probably benign Het
6030469F06Rik A T 12: 31,234,730 (GRCm39) noncoding transcript Het
Acad11 T C 9: 103,993,495 (GRCm39) F541L probably damaging Het
Acin1 G T 14: 54,884,231 (GRCm39) R92S probably damaging Het
Appl1 A G 14: 26,662,213 (GRCm39) S490P probably benign Het
Aqp9 C A 9: 71,037,726 (GRCm39) V184L probably benign Het
Arih1 A T 9: 59,393,266 (GRCm39) I122N possibly damaging Het
Bmi1 T C 2: 18,687,983 (GRCm39) probably benign Het
Bmpr1a G A 14: 34,137,834 (GRCm39) T391I possibly damaging Het
Cacna1s A G 1: 136,041,041 (GRCm39) K1256E probably damaging Het
Cacng3 C T 7: 122,367,795 (GRCm39) P225L probably damaging Het
Cd101 A T 3: 100,925,843 (GRCm39) probably null Het
Cd55 A G 1: 130,390,294 (GRCm39) probably benign Het
Cenpe T C 3: 134,928,016 (GRCm39) I258T probably damaging Het
Cfap251 C T 5: 123,428,117 (GRCm39) T538M probably damaging Het
Cma2 A G 14: 56,211,135 (GRCm39) probably benign Het
Ddost T A 4: 138,036,964 (GRCm39) S176T probably benign Het
Ddx19b A T 8: 111,750,596 (GRCm39) probably null Het
Dmxl2 A G 9: 54,286,223 (GRCm39) I2681T probably damaging Het
Ern1 C T 11: 106,289,412 (GRCm39) E964K probably benign Het
Exoc1l G T 5: 76,648,334 (GRCm39) V47L possibly damaging Het
Galntl5 C T 5: 25,425,172 (GRCm39) R430C probably benign Het
Gga3 A G 11: 115,478,259 (GRCm39) L511P probably damaging Het
Gria2 C T 3: 80,618,165 (GRCm39) probably benign Het
Hmbs A T 9: 44,252,949 (GRCm39) L28* probably null Het
Iffo2 A G 4: 139,330,532 (GRCm39) E220G probably damaging Het
Ifi30 A G 8: 71,217,562 (GRCm39) probably benign Het
Irf2 T A 8: 47,299,096 (GRCm39) C297S probably benign Het
Izumo4 T C 10: 80,538,918 (GRCm39) Y94H probably damaging Het
Klhdc9 A G 1: 171,187,353 (GRCm39) V215A probably benign Het
Kmt2a T C 9: 44,731,261 (GRCm39) probably benign Het
Kmt2c A T 5: 25,580,955 (GRCm39) C513S probably damaging Het
Lyg1 A T 1: 37,988,977 (GRCm39) M81K possibly damaging Het
Maip1 T G 1: 57,454,852 (GRCm39) W279G probably damaging Het
Myo7a T C 7: 97,721,144 (GRCm39) T1263A probably benign Het
Naa15 T A 3: 51,373,060 (GRCm39) I701N possibly damaging Het
Ncoa3 A G 2: 165,910,463 (GRCm39) N1292S probably benign Het
Necab2 T A 8: 120,180,979 (GRCm39) probably benign Het
Nfatc1 T A 18: 80,741,257 (GRCm39) I234F possibly damaging Het
Olfm1 G A 2: 28,098,223 (GRCm39) R95K possibly damaging Het
Or10ag56 A G 2: 87,139,402 (GRCm39) T90A probably benign Het
Or10ak8 A T 4: 118,773,823 (GRCm39) N280K possibly damaging Het
Otoa T C 7: 120,755,750 (GRCm39) probably null Het
Padi4 GCTGCGTACCTCCAC GC 4: 140,475,760 (GRCm39) probably benign Het
Pard6g A G 18: 80,160,337 (GRCm39) D150G probably damaging Het
Pax5 A G 4: 44,609,783 (GRCm39) L215S probably damaging Het
Pja2 A T 17: 64,594,516 (GRCm39) probably benign Het
Plk4 T A 3: 40,765,654 (GRCm39) probably benign Het
Polr1a A T 6: 71,955,405 (GRCm39) H1687L possibly damaging Het
Ptcd2 G A 13: 99,479,899 (GRCm39) L41F probably damaging Het
Ropn1 T A 16: 34,490,334 (GRCm39) S62T probably benign Het
Setd1a T C 7: 127,395,223 (GRCm39) probably benign Het
Setdb1 T C 3: 95,234,997 (GRCm39) D902G probably damaging Het
Sik3 T A 9: 46,120,068 (GRCm39) L719Q probably damaging Het
Slc36a1 G T 11: 55,123,333 (GRCm39) V433F probably benign Het
Slc6a3 T C 13: 73,705,169 (GRCm39) V220A possibly damaging Het
Slc6a5 A T 7: 49,561,539 (GRCm39) R24W probably damaging Het
Smox G T 2: 131,362,564 (GRCm39) R281L probably benign Het
Sulf2 G T 2: 165,935,436 (GRCm39) H226N probably damaging Het
Syne2 C T 12: 76,106,358 (GRCm39) probably null Het
Tenm3 C T 8: 48,740,826 (GRCm39) S1210N possibly damaging Het
Tns1 A T 1: 73,964,920 (GRCm39) V1237E probably damaging Het
Ttn A G 2: 76,539,717 (GRCm39) V34423A possibly damaging Het
Vmn2r118 A G 17: 55,918,021 (GRCm39) probably benign Het
Vmn2r19 A G 6: 123,286,703 (GRCm39) Y112C probably damaging Het
Zfp326 G T 5: 106,026,641 (GRCm39) A15S possibly damaging Het
Other mutations in Trf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00156:Trf APN 9 103,098,156 (GRCm39) missense probably benign 0.00
IGL00424:Trf APN 9 103,104,135 (GRCm39) missense probably damaging 1.00
IGL00793:Trf APN 9 103,103,342 (GRCm39) unclassified probably benign
IGL01139:Trf APN 9 103,100,803 (GRCm39) missense probably damaging 1.00
IGL01658:Trf APN 9 103,104,055 (GRCm39) missense probably benign 0.04
IGL02671:Trf APN 9 103,089,181 (GRCm39) missense probably benign 0.01
IGL02996:Trf APN 9 103,098,102 (GRCm39) missense probably benign 0.01
R0060:Trf UTSW 9 103,098,121 (GRCm39) missense probably benign 0.11
R0060:Trf UTSW 9 103,098,121 (GRCm39) missense probably benign 0.11
R0096:Trf UTSW 9 103,099,358 (GRCm39) missense probably damaging 1.00
R0096:Trf UTSW 9 103,099,358 (GRCm39) missense probably damaging 1.00
R0112:Trf UTSW 9 103,104,155 (GRCm39) unclassified probably benign
R0234:Trf UTSW 9 103,104,078 (GRCm39) splice site probably null
R0234:Trf UTSW 9 103,104,078 (GRCm39) splice site probably null
R0456:Trf UTSW 9 103,104,102 (GRCm39) missense probably damaging 1.00
R0601:Trf UTSW 9 103,100,132 (GRCm39) critical splice donor site probably null
R1419:Trf UTSW 9 103,103,307 (GRCm39) missense probably damaging 1.00
R1606:Trf UTSW 9 103,102,335 (GRCm39) splice site probably null
R3943:Trf UTSW 9 103,100,151 (GRCm39) missense probably benign 0.00
R4431:Trf UTSW 9 103,089,075 (GRCm39) missense possibly damaging 0.81
R4609:Trf UTSW 9 103,089,184 (GRCm39) missense possibly damaging 0.81
R4658:Trf UTSW 9 103,100,807 (GRCm39) missense probably damaging 1.00
R4830:Trf UTSW 9 103,105,114 (GRCm39) missense probably damaging 0.98
R4925:Trf UTSW 9 103,096,445 (GRCm39) missense probably benign 0.00
R4929:Trf UTSW 9 103,105,074 (GRCm39) intron probably benign
R4931:Trf UTSW 9 103,105,247 (GRCm39) missense probably damaging 0.99
R5139:Trf UTSW 9 103,100,133 (GRCm39) critical splice donor site probably null
R5272:Trf UTSW 9 103,105,177 (GRCm39) missense probably damaging 1.00
R5692:Trf UTSW 9 103,103,324 (GRCm39) missense possibly damaging 0.87
R6227:Trf UTSW 9 103,107,504 (GRCm39) start gained probably benign
R6365:Trf UTSW 9 103,099,327 (GRCm39) missense possibly damaging 0.70
R6928:Trf UTSW 9 103,099,307 (GRCm39) missense possibly damaging 0.56
R7127:Trf UTSW 9 103,102,326 (GRCm39) missense probably benign
R7231:Trf UTSW 9 103,102,347 (GRCm39) missense probably damaging 1.00
R7648:Trf UTSW 9 103,105,168 (GRCm39) missense probably benign 0.01
R8088:Trf UTSW 9 103,089,130 (GRCm39) missense probably damaging 1.00
R8095:Trf UTSW 9 103,087,735 (GRCm39) missense probably damaging 1.00
R8317:Trf UTSW 9 103,094,715 (GRCm39) missense probably damaging 1.00
R8443:Trf UTSW 9 103,094,675 (GRCm39) missense probably damaging 0.98
R8735:Trf UTSW 9 103,087,723 (GRCm39) missense probably damaging 0.99
R8854:Trf UTSW 9 103,107,529 (GRCm39) unclassified probably benign
R9131:Trf UTSW 9 103,089,087 (GRCm39) missense probably damaging 0.99
R9360:Trf UTSW 9 103,094,734 (GRCm39) critical splice acceptor site probably null
R9499:Trf UTSW 9 103,099,283 (GRCm39) missense probably benign 0.00
R9526:Trf UTSW 9 103,104,130 (GRCm39) missense probably damaging 1.00
R9551:Trf UTSW 9 103,099,283 (GRCm39) missense probably benign 0.00
R9552:Trf UTSW 9 103,099,283 (GRCm39) missense probably benign 0.00
R9710:Trf UTSW 9 103,103,217 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CACTTTTATGAACCCTGAGCCCACC -3'
(R):5'- GCAAGACTGTCCTGTTCTTCACCG -3'

Sequencing Primer
(F):5'- AGGACCCTGTTTTTCTGCAC -3'
(R):5'- CTGTTCTTCACCGGAGTTAGATG -3'
Posted On 2013-05-09