|Institutional Source||Beutler Lab|
|Synonyms||MTf, CD228, melanotransferrin, Mfi2|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R3804 (G1)|
|Chromosomal Location||31878810-31899020 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 31884998 bp|
|Amino Acid Change||Histidine to Arginine at position 181 (H181R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000023464 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000023464]|
|Predicted Effect||probably benign
AA Change: H181R
PolyPhen 2 Score 0.231 (Sensitivity: 0.91; Specificity: 0.88)
AA Change: H181R
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||100% (67/67)|
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||
|Other mutations in Meltf||
(F):5'- CTTGACTCTGAAAGGTGGAGGC -3'
(R):5'- AGCCCAAAGTCACTTCCCTG -3'
(F):5'- CTCTCTTGACTCTGCAGGGTG -3'
(R):5'- AAGTCACTTCCCTGCGCCC -3'