Incidental Mutation 'R6928:Trf'
ID 539847
Institutional Source Beutler Lab
Gene Symbol Trf
Ensembl Gene ENSMUSG00000032554
Gene Name transferrin
Synonyms HP, Tfn
MMRRC Submission 045045-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6928 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 103086075-103107485 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 103099307 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 168 (R168W)
Ref Sequence ENSEMBL: ENSMUSP00000129013 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035158] [ENSMUST00000112645] [ENSMUST00000126359] [ENSMUST00000164377] [ENSMUST00000165296] [ENSMUST00000166836] [ENSMUST00000170904]
AlphaFold Q921I1
Predicted Effect probably benign
Transcript: ENSMUST00000035158
AA Change: R331W

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000035158
Gene: ENSMUSG00000032554
AA Change: R331W

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: ENSMUST00000112645
AA Change: R331W

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000108264
Gene: ENSMUSG00000032554
AA Change: R331W

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: ENSMUST00000126359
SMART Domains Protein: ENSMUSP00000120472
Gene: ENSMUSG00000032554

DomainStartEndE-ValueType
TR_FER 22 237 2.25e-77 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 possibly damaging
Transcript: ENSMUST00000165296
AA Change: R168W

PolyPhen 2 Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000129013
Gene: ENSMUSG00000032554
AA Change: R168W

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
TR_FER 25 171 5.58e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000166836
AA Change: R317W

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000127808
Gene: ENSMUSG00000090639
AA Change: R317W

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 benign
Transcript: ENSMUST00000168142
SMART Domains Protein: ENSMUSP00000128609
Gene: ENSMUSG00000032554

DomainStartEndE-ValueType
TR_FER 2 249 1.87e-115 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000170904
SMART Domains Protein: ENSMUSP00000128390
Gene: ENSMUSG00000032554

DomainStartEndE-ValueType
TR_FER 15 275 7.6e-139 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 97.5%
Validation Efficiency 98% (62/63)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcyap1r1 A G 6: 55,456,257 (GRCm39) D215G possibly damaging Het
Asb3 A T 11: 30,948,326 (GRCm39) M40L probably damaging Het
Aspg G A 12: 112,093,123 (GRCm39) V547M possibly damaging Het
Aspm T A 1: 139,407,944 (GRCm39) L2277* probably null Het
Atp7b A G 8: 22,484,828 (GRCm39) S1295P probably benign Het
Cdca2 A G 14: 67,943,193 (GRCm39) S199P probably damaging Het
Cdh1 A G 8: 107,387,642 (GRCm39) E514G possibly damaging Het
Cenpk G T 13: 104,365,500 (GRCm39) probably benign Het
Col6a5 C A 9: 105,817,118 (GRCm39) V398L unknown Het
Colec10 A T 15: 54,326,002 (GRCm39) K277N probably damaging Het
Cryzl2 T G 1: 157,298,357 (GRCm39) S249A probably benign Het
Cspg4 T A 9: 56,805,164 (GRCm39) Y1992N possibly damaging Het
Drd3 G T 16: 43,641,683 (GRCm39) R333L probably benign Het
Espl1 C T 15: 102,207,342 (GRCm39) R269C probably benign Het
Esr2 C T 12: 76,212,252 (GRCm39) C188Y probably damaging Het
Focad A G 4: 88,267,112 (GRCm39) D1041G unknown Het
Frem3 T C 8: 81,337,911 (GRCm39) F68S possibly damaging Het
Gapdh A G 6: 125,139,634 (GRCm39) V212A probably damaging Het
Gzmb T C 14: 56,497,734 (GRCm39) K169E probably benign Het
Hexd T A 11: 121,102,880 (GRCm39) F33I possibly damaging Het
Hsd3b6 T C 3: 98,718,269 (GRCm39) I32V probably benign Het
Jcad T C 18: 4,673,372 (GRCm39) V378A probably benign Het
Kcnmb2 T C 3: 32,253,190 (GRCm39) S177P probably benign Het
Lrriq1 A T 10: 103,050,800 (GRCm39) S651T possibly damaging Het
Map3k2 T C 18: 32,340,593 (GRCm39) probably null Het
Mib1 T G 18: 10,802,282 (GRCm39) S870A probably benign Het
Moap1 T A 12: 102,708,871 (GRCm39) N226I probably damaging Het
Moxd1 T A 10: 24,176,186 (GRCm39) N547K probably damaging Het
Mtmr9 A G 14: 63,781,042 (GRCm39) V16A probably benign Het
Nme1 T C 11: 93,850,229 (GRCm39) Y151C probably damaging Het
Nwd1 T C 8: 73,408,653 (GRCm39) F879L probably benign Het
Nynrin T G 14: 56,101,335 (GRCm39) S335A probably benign Het
Or52ac1 A T 7: 104,245,796 (GRCm39) Y197* probably null Het
Or5ac25 C A 16: 59,181,826 (GRCm39) G252C probably damaging Het
Or5b102 A T 19: 13,041,348 (GRCm39) H191L probably benign Het
Or5b99 A G 19: 12,977,202 (GRCm39) N284S probably damaging Het
Or8d23 T C 9: 38,841,862 (GRCm39) Y132H probably damaging Het
Or8g21 T C 9: 38,905,928 (GRCm39) M268V probably benign Het
Pcdhb21 A G 18: 37,647,474 (GRCm39) E201G probably damaging Het
Plscr1 T C 9: 92,152,004 (GRCm39) V301A possibly damaging Het
Psg28 A T 7: 18,157,003 (GRCm39) S411T possibly damaging Het
Rif1 T C 2: 51,985,973 (GRCm39) W653R probably damaging Het
Rnd3 T A 2: 51,022,518 (GRCm39) I175L probably benign Het
Rtn4 A G 11: 29,656,791 (GRCm39) E199G possibly damaging Het
Sgpp1 T C 12: 75,763,344 (GRCm39) Y279C probably damaging Het
Slc2a13 A G 15: 91,160,382 (GRCm39) I524T probably damaging Het
Speer4a2 A G 5: 26,290,586 (GRCm39) probably null Het
Spg11 C T 2: 121,900,385 (GRCm39) V1556I probably benign Het
Spopfm1 T A 3: 94,173,855 (GRCm39) C288S probably benign Het
Srebf2 C T 15: 82,087,924 (GRCm39) R215* probably null Het
Tdpoz8 G A 3: 92,981,267 (GRCm39) C95Y probably damaging Het
Tmem19 T C 10: 115,183,179 (GRCm39) N147S possibly damaging Het
Tpr T C 1: 150,284,536 (GRCm39) S408P possibly damaging Het
Trav13d-4 C T 14: 53,310,618 (GRCm39) T53I probably damaging Het
Trim11 A G 11: 58,879,669 (GRCm39) K273R probably damaging Het
Tsacc T A 3: 88,190,247 (GRCm39) M68L probably benign Het
Ttn T A 2: 76,584,869 (GRCm39) M22110L probably benign Het
Zfp160 G T 17: 21,261,724 (GRCm39) G104V probably benign Het
Zfp582 T C 7: 6,357,266 (GRCm39) Y360H probably damaging Het
Zranb1 G A 7: 132,568,323 (GRCm39) R301H 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
R0411:Trf UTSW 9 103,094,700 (GRCm39) missense probably damaging 1.00
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
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'- CTAGGCTCACAAACAGGATGG -3'
(R):5'- TGGGTGATGGAGAACATGCC -3'

Sequencing Primer
(F):5'- CTAGGCTCACAAACAGGATGGAAATG -3'
(R):5'- GATGGAGAACATGCCCGAATAACTTC -3'
Posted On 2018-11-06