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|Institutional Source||Beutler Lab|
|Is this an essential gene?||Probably non essential (E-score: 0.188)|
|Stock #||R7950 (G1)|
|Chromosomal Location||90460897-90476602 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 90472464 bp|
|Amino Acid Change||Serine to Proline at position 478 (S478P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000031314 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000031314]|
|Predicted Effect||probably damaging
AA Change: S478P
PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
AA Change: S478P
|Coding Region Coverage||
|Validation Efficiency||100% (47/47)|
FUNCTION: This gene encodes albumin, an abundant plasma protein essential for maintaining oncotic pressure that functions as a carrier protein for various molecules such as steriods and fatty acids in blood. This gene is primarily expressed in liver where the encoded protein undergoes proteolytic processing before secretion into the plasma. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for a TALEN-mediated deletion exhibit analbuminemia but appear healthy and grossly normal and breed normally. Mice heterozygotes for an ENU-induced point mutation have significantly reduced plasma albumin and calcium levels and significantly elevated alkaline phosphatase activity. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Alb||
(F):5'- TAACTTTCAGGAGCAAGGGG -3'
(R):5'- TCCTTCTCTGGAAGTGTGCAG -3'
(F):5'- GGGGGTCCTAATACATGCATATG -3'
(R):5'- TCTGGAAGTGTGCAGATATCAG -3'