Incidental Mutation 'R6424:Meltf'
ID 518274
Institutional Source Beutler Lab
Gene Symbol Meltf
Ensembl Gene ENSMUSG00000022780
Gene Name melanotransferrin
Synonyms MTf, melanotransferrin, Mfi2, CD228
MMRRC Submission 044387-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6424 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 31697628-31717838 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 31699080 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 63 (C63*)
Ref Sequence ENSEMBL: ENSMUSP00000023464 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023464]
AlphaFold Q9R0R1
Predicted Effect probably null
Transcript: ENSMUST00000023464
AA Change: C63*
SMART Domains Protein: ENSMUSP00000023464
Gene: ENSMUSG00000022780
AA Change: C63*

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
TR_FER 23 364 2.62e-183 SMART
TR_FER 366 719 4.23e-178 SMART
low complexity region 721 734 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a cell-surface glycoprotein found on melanoma cells. The protein shares sequence similarity and iron-binding properties with members of the transferrin superfamily. The importance of the iron binding function has not yet been identified. This gene resides in the same region of chromosome 3 as members of the transferrin superfamily. Alternative splicing results in two transcript variants. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile, exhibit no physical defects, and develop normally with no detectable alterations in iron metabolism. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,460,542 (GRCm39) V4184A probably benign Het
Acvr2b T A 9: 119,231,645 (GRCm39) W12R probably benign Het
Arap2 T C 5: 62,840,707 (GRCm39) K720E probably damaging Het
Cr1l A C 1: 194,800,123 (GRCm39) F184V probably damaging Het
Haus8 C T 8: 71,704,080 (GRCm39) W359* probably null Het
Insm2 A T 12: 55,646,867 (GRCm39) I204F probably damaging Het
Katnb1 T A 8: 95,820,144 (GRCm39) I97N probably damaging Het
Kif1b T C 4: 149,277,053 (GRCm39) M1337V probably benign Het
Map2 A T 1: 66,453,946 (GRCm39) K945N possibly damaging Het
Nbas T C 12: 13,465,734 (GRCm39) probably null Het
Or5p1 G A 7: 107,916,412 (GRCm39) V104I probably benign Het
Raf1 T C 6: 115,596,542 (GRCm39) E594G probably benign Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Scgb2b19 A C 7: 32,978,022 (GRCm39) S92A possibly damaging Het
Serpinb3c T A 1: 107,199,359 (GRCm39) *387Y probably null Het
Shpk A T 11: 73,104,318 (GRCm39) I156F possibly damaging Het
Smarcd1 T C 15: 99,602,248 (GRCm39) F128L probably damaging Het
Tars3 G A 7: 65,305,487 (GRCm39) G237E probably damaging Het
Thap1 CAGCATCTGCTCGGAGCA CAGCA 8: 26,650,884 (GRCm39) probably null Het
Ttn T C 2: 76,719,848 (GRCm39) probably benign Het
Vmn1r223 T A 13: 23,434,345 (GRCm39) I313N probably damaging Het
Other mutations in Meltf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01811:Meltf APN 16 31,707,803 (GRCm39) missense probably damaging 1.00
IGL02942:Meltf APN 16 31,709,596 (GRCm39) nonsense probably null
IGL03340:Meltf APN 16 31,711,602 (GRCm39) missense probably damaging 1.00
R0734:Meltf UTSW 16 31,700,776 (GRCm39) missense probably damaging 0.99
R1023:Meltf UTSW 16 31,703,778 (GRCm39) missense probably damaging 1.00
R1751:Meltf UTSW 16 31,702,747 (GRCm39) missense probably damaging 1.00
R1767:Meltf UTSW 16 31,702,747 (GRCm39) missense probably damaging 1.00
R1851:Meltf UTSW 16 31,715,395 (GRCm39) missense probably benign 0.00
R1900:Meltf UTSW 16 31,700,787 (GRCm39) critical splice donor site probably null
R1993:Meltf UTSW 16 31,711,440 (GRCm39) nonsense probably null
R3423:Meltf UTSW 16 31,715,343 (GRCm39) nonsense probably null
R3425:Meltf UTSW 16 31,715,343 (GRCm39) nonsense probably null
R3804:Meltf UTSW 16 31,703,816 (GRCm39) missense probably benign 0.23
R4724:Meltf UTSW 16 31,711,323 (GRCm39) missense probably benign 0.03
R4976:Meltf UTSW 16 31,713,532 (GRCm39) missense probably benign 0.01
R5007:Meltf UTSW 16 31,706,380 (GRCm39) missense possibly damaging 0.60
R5058:Meltf UTSW 16 31,706,421 (GRCm39) splice site probably null
R5534:Meltf UTSW 16 31,709,632 (GRCm39) critical splice donor site probably null
R5661:Meltf UTSW 16 31,700,744 (GRCm39) missense possibly damaging 0.65
R6028:Meltf UTSW 16 31,706,294 (GRCm39) missense possibly damaging 0.91
R6464:Meltf UTSW 16 31,709,594 (GRCm39) missense probably benign 0.19
R6479:Meltf UTSW 16 31,700,700 (GRCm39) missense probably damaging 1.00
R6525:Meltf UTSW 16 31,707,717 (GRCm39) nonsense probably null
R6629:Meltf UTSW 16 31,703,894 (GRCm39) missense probably damaging 1.00
R6964:Meltf UTSW 16 31,698,980 (GRCm39) missense probably benign 0.41
R7133:Meltf UTSW 16 31,711,617 (GRCm39) missense probably damaging 1.00
R7169:Meltf UTSW 16 31,698,980 (GRCm39) missense probably benign 0.41
R7198:Meltf UTSW 16 31,702,617 (GRCm39) missense possibly damaging 0.61
R7212:Meltf UTSW 16 31,709,632 (GRCm39) critical splice donor site probably null
R7246:Meltf UTSW 16 31,713,680 (GRCm39) missense probably damaging 1.00
R7407:Meltf UTSW 16 31,713,553 (GRCm39) missense probably damaging 1.00
R7424:Meltf UTSW 16 31,703,764 (GRCm39) missense probably damaging 1.00
R7475:Meltf UTSW 16 31,700,756 (GRCm39) missense probably benign 0.12
R7727:Meltf UTSW 16 31,702,612 (GRCm39) missense probably damaging 0.99
R7764:Meltf UTSW 16 31,699,085 (GRCm39) missense probably benign 0.01
R8220:Meltf UTSW 16 31,706,233 (GRCm39) missense probably benign 0.01
R8840:Meltf UTSW 16 31,716,020 (GRCm39) missense probably damaging 0.98
R8896:Meltf UTSW 16 31,709,522 (GRCm39) splice site probably benign
R9214:Meltf UTSW 16 31,697,763 (GRCm39) missense probably benign
R9563:Meltf UTSW 16 31,703,869 (GRCm39) missense probably damaging 1.00
R9638:Meltf UTSW 16 31,706,409 (GRCm39) missense possibly damaging 0.87
X0062:Meltf UTSW 16 31,699,018 (GRCm39) missense probably damaging 1.00
Z1177:Meltf UTSW 16 31,699,052 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGTACAAGGCTGTGTGTCAG -3'
(R):5'- TCACTGCTAGGGAAACTCAGG -3'

Sequencing Primer
(F):5'- TCAGGGGTTGGCCATCCAG -3'
(R):5'- GGAGATTGTATCACCAACCCTG -3'
Posted On 2018-05-24