Incidental Mutation 'R3423:Meltf'
ID 267135
Institutional Source Beutler Lab
Gene Symbol Meltf
Ensembl Gene ENSMUSG00000022780
Gene Name melanotransferrin
Synonyms MTf, melanotransferrin, Mfi2, CD228
MMRRC Submission 040641-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3423 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 31697628-31717838 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 31715343 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 679 (R679*)
Ref Sequence ENSEMBL: ENSMUSP00000023464 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023464]
AlphaFold Q9R0R1
Predicted Effect probably null
Transcript: ENSMUST00000023464
AA Change: R679*
SMART Domains Protein: ENSMUSP00000023464
Gene: ENSMUSG00000022780
AA Change: R679*

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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency 100% (38/38)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap8 A G 17: 32,535,429 (GRCm39) F195S possibly damaging Het
Aldh3a1 G A 11: 61,106,362 (GRCm39) A246T probably damaging Het
Caskin1 T A 17: 24,718,539 (GRCm39) N331K probably damaging Het
Ceacam5 G A 7: 17,491,562 (GRCm39) S644N possibly damaging Het
Csmd3 A T 15: 47,710,648 (GRCm39) D1646E probably damaging Het
Cyp4a12a A C 4: 115,184,471 (GRCm39) K282T probably benign Het
Dtnb C T 12: 3,641,962 (GRCm39) R42* probably null Het
Dyrk3 A G 1: 131,057,219 (GRCm39) I318T probably damaging Het
Fhip2b G A 14: 70,824,025 (GRCm39) T535M probably damaging Het
Gm11110 T C 17: 57,410,435 (GRCm39) probably benign Het
Gm8674 T A 13: 50,055,792 (GRCm39) noncoding transcript Het
Igfn1 A G 1: 135,926,379 (GRCm39) S24P probably benign Het
Inpp4b A G 8: 82,678,890 (GRCm39) M307V possibly damaging Het
Ism2 T C 12: 87,333,871 (GRCm39) N58S probably benign Het
Kmt2a A C 9: 44,731,394 (GRCm39) probably benign Het
Limk1 A G 5: 134,701,523 (GRCm39) probably null Het
Lrrc14 T A 15: 76,597,318 (GRCm39) probably null Het
Mapt C T 11: 104,189,548 (GRCm39) R189* probably null Het
Muc6 G A 7: 141,218,313 (GRCm39) S2120F possibly damaging Het
Mug2 T C 6: 122,024,465 (GRCm39) probably benign Het
Myo15a G A 11: 60,401,126 (GRCm39) probably null Het
Nup98 T C 7: 101,834,084 (GRCm39) T293A probably benign Het
Nwd2 A T 5: 63,957,504 (GRCm39) Y278F probably damaging Het
Or12d12 T A 17: 37,610,761 (GRCm39) D184V probably benign Het
Phactr4 A C 4: 132,097,058 (GRCm39) D496E probably benign Het
Pramel6 T A 2: 87,341,140 (GRCm39) probably null Het
Ptprq C T 10: 107,418,337 (GRCm39) A1680T probably damaging Het
Retnlb T A 16: 48,639,008 (GRCm39) C70S probably damaging Het
Ros1 C A 10: 52,004,512 (GRCm39) probably null Het
Sez6l T C 5: 112,574,615 (GRCm39) D875G probably damaging Het
Slc18b1 T G 10: 23,698,874 (GRCm39) M348R probably damaging Het
Slc36a3 G T 11: 55,033,607 (GRCm39) T137K probably benign Het
Sos2 T C 12: 69,650,327 (GRCm39) N865D probably damaging Het
Sp9 G A 2: 73,104,315 (GRCm39) A290T probably benign Het
Spg11 C T 2: 121,901,534 (GRCm39) V1469I probably benign Het
Unc13c G T 9: 73,837,935 (GRCm39) A972D possibly damaging Het
Vwa3a T C 7: 120,398,334 (GRCm39) L945P 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
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
R6424:Meltf UTSW 16 31,699,080 (GRCm39) nonsense probably null
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'- TGGCTTCCACTGAGAGACTTG -3'
(R):5'- GGATACCCTTCAATGTCCTCAG -3'

Sequencing Primer
(F):5'- ACTTGGGGCCCTGAAATG -3'
(R):5'- CACCCCTGTGATTATGGGG -3'
Posted On 2015-02-18