Incidental Mutation 'IGL01139:Trf'
ID 51999
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trf
Ensembl Gene ENSMUSG00000032554
Gene Name transferrin
Synonyms HP, Tfn
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01139
Quality Score
Status
Chromosome 9
Chromosomal Location 103086075-103107485 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 103100803 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 224 (V224D)
Ref Sequence ENSEMBL: ENSMUSP00000108264 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035158] [ENSMUST00000112645] [ENSMUST00000126359] [ENSMUST00000164377] [ENSMUST00000165296] [ENSMUST00000166836] [ENSMUST00000170904]
AlphaFold Q921I1
Predicted Effect probably damaging
Transcript: ENSMUST00000035158
AA Change: V224D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000035158
Gene: ENSMUSG00000032554
AA Change: V224D

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: V224D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108264
Gene: ENSMUSG00000032554
AA Change: V224D

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: V221D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000120472
Gene: ENSMUSG00000032554
AA Change: V221D

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 damaging
Transcript: ENSMUST00000166836
AA Change: V210D

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000127808
Gene: ENSMUSG00000090639
AA Change: V210D

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
Predicted Effect probably benign
Transcript: ENSMUST00000168142
SMART Domains Protein: ENSMUSP00000128609
Gene: ENSMUSG00000032554

DomainStartEndE-ValueType
TR_FER 2 249 1.87e-115 SMART
Coding Region Coverage
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm5 A T 4: 144,504,259 (GRCm39) Y297* probably null Het
Actr3 A T 1: 125,333,622 (GRCm39) I215N probably damaging Het
Ambn C T 5: 88,612,376 (GRCm39) probably benign Het
Arhgef1 T A 7: 24,625,376 (GRCm39) probably benign Het
Arid1a A C 4: 133,421,308 (GRCm39) S832R unknown Het
Clca4a A T 3: 144,672,030 (GRCm39) I304N probably damaging Het
Dmxl2 G A 9: 54,366,248 (GRCm39) P274S probably damaging Het
Eif4enif1 T A 11: 3,171,143 (GRCm39) D211E probably damaging Het
Eri2 A G 7: 119,385,960 (GRCm39) probably null Het
Fhod3 C T 18: 25,199,401 (GRCm39) P691S probably benign Het
Flnb A G 14: 7,945,989 (GRCm38) S2465G probably damaging Het
Ftsj1 G A X: 8,112,831 (GRCm39) R171C probably damaging Het
Glb1l3 G A 9: 26,729,523 (GRCm39) T648I probably benign Het
Gm4222 T A 2: 89,978,889 (GRCm39) probably benign Het
Gm5475 G A 15: 100,322,096 (GRCm39) probably benign Het
Jaml C A 9: 45,012,317 (GRCm39) T268N possibly damaging Het
Kank3 G A 17: 34,036,375 (GRCm39) G81E probably damaging Het
Lrba A G 3: 86,549,969 (GRCm39) T217A possibly damaging Het
Ltn1 A G 16: 87,212,897 (GRCm39) S555P probably benign Het
Map3k15 T A X: 158,855,875 (GRCm39) M350K probably damaging Het
Mipol1 C A 12: 57,352,821 (GRCm39) Y53* probably null Het
Mn1 A G 5: 111,569,315 (GRCm39) D1095G probably damaging Het
Myh14 T C 7: 44,255,716 (GRCm39) probably benign Het
Nrn1 A G 13: 36,914,190 (GRCm39) C31R probably damaging Het
Nup210 A T 6: 91,007,079 (GRCm39) L579H possibly damaging Het
Nxf2 T C X: 133,851,145 (GRCm39) I578V probably benign Het
Obscn G A 11: 58,969,178 (GRCm39) A172V probably damaging Het
Or10h1b T A 17: 33,395,756 (GRCm39) Y123N probably damaging Het
Or9g4 T G 2: 85,504,841 (GRCm39) Y218S probably damaging Het
Phtf1 A G 3: 103,912,918 (GRCm39) D748G probably damaging Het
Psd3 A T 8: 68,361,187 (GRCm39) Y863N probably damaging Het
Psmc6 C T 14: 45,581,167 (GRCm39) T321I probably benign Het
Rassf6 T C 5: 90,756,825 (GRCm39) *31W probably null Het
Rictor A C 15: 6,807,749 (GRCm39) K791Q probably damaging Het
Slc12a9 C T 5: 137,321,104 (GRCm39) M470I probably damaging Het
Tex28 A T X: 73,194,830 (GRCm39) M367K possibly damaging Het
Thnsl2 A T 6: 71,115,718 (GRCm39) V163D probably damaging Het
Tmco3 G A 8: 13,369,887 (GRCm39) R633Q possibly damaging Het
Ttc8 C T 12: 98,930,804 (GRCm39) Q273* probably null Het
Usp9x A G X: 12,970,815 (GRCm39) probably benign Het
Vmn2r117 A G 17: 23,696,778 (GRCm39) W210R probably damaging Het
Vmn2r5 A G 3: 64,398,826 (GRCm39) S718P probably benign Het
Vps13a T C 19: 16,617,989 (GRCm39) D2932G probably damaging Het
Whamm T C 7: 81,245,662 (GRCm39) L706P probably damaging Het
Yeats2 G A 16: 20,033,143 (GRCm39) V45I probably damaging Het
Yipf3 G A 17: 46,561,383 (GRCm39) probably null Het
Zeb1 T C 18: 5,705,061 (GRCm39) V26A 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
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
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
Posted On 2013-06-21