|Institutional Source||Beutler Lab|
|Gene Name||STEAP family member 4|
|Is this an essential gene?||Probably non essential (E-score: 0.135)|
|Stock #||R6136 (G1)|
|Chromosomal Location||7960457-7982213 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 7978562 bp|
|Amino Acid Change||Arginine to Glutamine at position 380 (R380Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000111081 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000115421]|
|Predicted Effect||probably damaging
AA Change: R380Q
PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
AA Change: R380Q
|Meta Mutation Damage Score||0.2708|
|Coding Region Coverage||
|Validation Efficiency||98% (52/53)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the STEAP (six transmembrane epithelial antigen of prostate) family, and resides in the golgi apparatus. It functions as a metalloreductase that has the ability to reduce both Fe(3+) to Fe(2+) and Cu(2+) to Cu(1+), using NAD(+) as acceptor. Studies in mice and human suggest that this gene maybe involved in adipocyte development and metabolism, and may contribute to the normal biology of the prostate cell, as well as prostate cancer progression. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit adipose accumulation, oxidative stress, increased liver weight, lower metabolic rate, hypoactivity, insulin resistance, glucose intolerance, mild hyperglycemia and dyslipidemia. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Steap4||
(F):5'- TCCCCTTGGAAGAGTAAAGTAGAAG -3'
(R):5'- ATCGAGTCTGCCTGTCAGTG -3'
(F):5'- GAAGGAACATCCATTGTAATTGTTTC -3'
(R):5'- GTCTGAGTTCATTTTTCTGAGCGAAC -3'