Incidental Mutation 'R1606:Trf'
ID 176492
Institutional Source Beutler Lab
Gene Symbol Trf
Ensembl Gene ENSMUSG00000032554
Gene Name transferrin
Synonyms HP, Tfn
MMRRC Submission 039643-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1606 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 103086075-103107485 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to T at 103102335 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000127808 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035158] [ENSMUST00000112645] [ENSMUST00000126359] [ENSMUST00000164377] [ENSMUST00000165296] [ENSMUST00000166836] [ENSMUST00000166836] [ENSMUST00000166836] [ENSMUST00000170904]
AlphaFold Q921I1
Predicted Effect probably damaging
Transcript: ENSMUST00000035158
AA Change: A181E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000035158
Gene: ENSMUSG00000032554
AA Change: A181E

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: A181E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000108264
Gene: ENSMUSG00000032554
AA Change: A181E

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 damaging
Transcript: ENSMUST00000126359
AA Change: A178E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120472
Gene: ENSMUSG00000032554
AA Change: A178E

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 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 null
Transcript: ENSMUST00000166836
SMART Domains Protein: ENSMUSP00000127808
Gene: ENSMUSG00000090639

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 null
Transcript: ENSMUST00000166836
SMART Domains Protein: ENSMUSP00000127808
Gene: ENSMUSG00000090639

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 null
Transcript: ENSMUST00000166836
SMART Domains Protein: ENSMUSP00000127808
Gene: ENSMUSG00000090639

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: ENSMUST00000170904
SMART Domains Protein: ENSMUSP00000128390
Gene: ENSMUSG00000032554

DomainStartEndE-ValueType
TR_FER 15 275 7.6e-139 SMART
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.8%
  • 20x: 91.1%
Validation Efficiency
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 A G 19: 43,825,091 (GRCm39) D1459G probably damaging Het
Adhfe1 G A 1: 9,623,698 (GRCm39) probably null Het
Adsl C T 15: 80,836,425 (GRCm39) Q61* probably null Het
Arhgap26 T A 18: 39,429,925 (GRCm39) C214S probably damaging Het
Armc8 A T 9: 99,419,782 (GRCm39) N9K probably damaging Het
Asxl1 A G 2: 153,242,375 (GRCm39) D975G probably damaging Het
Atp8b3 T C 10: 80,368,412 (GRCm39) E187G probably damaging Het
Bltp1 G A 3: 36,996,548 (GRCm39) D1087N probably damaging Het
Cdcp2 T C 4: 106,959,710 (GRCm39) S42P probably damaging Het
Chek1 A G 9: 36,630,820 (GRCm39) L198P probably damaging Het
Dlc1 A G 8: 37,317,406 (GRCm39) V423A probably benign Het
Dpy19l2 A G 9: 24,492,511 (GRCm39) S696P probably benign Het
Echdc3 A T 2: 6,200,438 (GRCm39) C183S possibly damaging Het
Exph5 A C 9: 53,285,595 (GRCm39) D892A probably benign Het
Fam120b T A 17: 15,622,073 (GRCm39) I17K possibly damaging Het
Fbln5 C T 12: 101,731,457 (GRCm39) D246N probably benign Het
Fbxo15 A C 18: 84,980,745 (GRCm39) K195T possibly damaging Het
Fzd1 C A 5: 4,807,514 (GRCm39) E23* probably null Het
Gas2l1 C A 11: 5,014,434 (GRCm39) A9S probably damaging Het
Gcc2 C T 10: 58,105,270 (GRCm39) L69F probably damaging Het
Ggt6 C T 11: 72,328,559 (GRCm39) A353V possibly damaging Het
Gphn T A 12: 78,730,657 (GRCm39) V764E probably damaging Het
Grid1 A T 14: 35,167,922 (GRCm39) Y482F probably damaging Het
Hlx G T 1: 184,464,184 (GRCm39) A52D probably damaging Het
Ifit1bl1 C T 19: 34,571,444 (GRCm39) V338M probably benign Het
Klhl14 T A 18: 21,698,589 (GRCm39) Q408L possibly damaging Het
Lacc1 T A 14: 77,267,081 (GRCm39) Q394L probably benign Het
Lcor T G 19: 41,573,513 (GRCm39) M756R probably benign Het
Lipe A G 7: 25,087,569 (GRCm39) F477L probably damaging Het
Lrig2 A G 3: 104,387,423 (GRCm39) probably null Het
Megf8 T A 7: 25,058,120 (GRCm39) H2131Q probably damaging Het
Nek1 A G 8: 61,577,310 (GRCm39) D1097G possibly damaging Het
Nhlrc3 A T 3: 53,366,078 (GRCm39) Y138* probably null Het
Nudcd2 T A 11: 40,626,834 (GRCm39) probably null Het
Numb T C 12: 83,847,784 (GRCm39) probably null Het
Or7h8 T G 9: 20,124,242 (GRCm39) L199R probably benign Het
Pacrg G A 17: 11,058,725 (GRCm39) Q11* probably null Het
Ppp1r37 A T 7: 19,268,924 (GRCm39) M192K probably damaging Het
Prmt8 T A 6: 127,666,799 (GRCm39) K392* probably null Het
Rab28 A T 5: 41,855,795 (GRCm39) W67R probably damaging Het
Rad21l C T 2: 151,496,606 (GRCm39) C365Y probably damaging Het
Rbm17 A T 2: 11,600,208 (GRCm39) F147I probably benign Het
Rbm46 A C 3: 82,771,848 (GRCm39) F256V probably damaging Het
Rcc1 A T 4: 132,062,087 (GRCm39) probably null Het
Rnf217 G T 10: 31,410,807 (GRCm39) T296N possibly damaging Het
Rnmt A G 18: 68,444,724 (GRCm39) D231G possibly damaging Het
Rph3al C T 11: 75,797,367 (GRCm39) V110I probably damaging Het
Rxfp2 T C 5: 149,983,362 (GRCm39) M289T probably benign Het
Sash1 T C 10: 8,605,721 (GRCm39) R890G probably benign Het
Sf3b2 A T 19: 5,338,026 (GRCm39) D245E probably benign Het
Skint9 A T 4: 112,246,398 (GRCm39) V238E probably benign Het
Slc26a8 T A 17: 28,857,455 (GRCm39) D896V possibly damaging Het
Slc35b4 T A 6: 34,135,323 (GRCm39) K330* probably null Het
Slco1a4 G T 6: 141,785,337 (GRCm39) H84Q probably damaging Het
Sptbn2 G T 19: 4,800,270 (GRCm39) probably null Het
St6galnac3 A T 3: 152,912,305 (GRCm39) D227E probably benign Het
Tek G A 4: 94,738,004 (GRCm39) D685N probably damaging Het
Trpm5 T A 7: 142,638,908 (GRCm39) K288* probably null Het
Ttn C T 2: 76,567,356 (GRCm39) V27846I probably damaging Het
Tyr A T 7: 87,087,179 (GRCm39) D444E probably benign Het
Ucp1 C A 8: 84,021,933 (GRCm39) A255E probably damaging Het
Ush2a A G 1: 188,491,963 (GRCm39) D3084G probably benign Het
Yeats4 T C 10: 117,053,344 (GRCm39) Y139C probably damaging Het
Zbtb6 A G 2: 37,319,130 (GRCm39) V266A probably benign Het
Zfp784 A T 7: 5,038,774 (GRCm39) N261K 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
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'- ACTGCCAGAACAGGGCTTGAAC -3'
(R):5'- CAAGAAGTACTGCTTGTGTCCCCG -3'

Sequencing Primer
(F):5'- CAGGGCTTGAACTTTGACATCAG -3'
(R):5'- CCTGTCTAGAAACCCTGCTTAG -3'
Posted On 2014-04-24