|Institutional Source||Beutler Lab|
|Gene Name||alpha fetoprotein|
|Is this an essential gene?||Probably non essential (E-score: 0.163)|
|Stock #||R8211 (G1)|
|Chromosomal Location||90490737-90508907 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 90501486 bp|
|Amino Acid Change||Isoleucine to Threonine at position 304 (I304T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000041006 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000042755]|
|Predicted Effect||possibly damaging
AA Change: I304T
PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
AA Change: I304T
|Coding Region Coverage||
|Validation Efficiency||100% (43/43)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes alpha-fetoprotein, a major plasma protein produced by the yolk sac and the liver during fetal life. Alpha-fetoprotein expression in adults is often associated with hepatoma or teratoma. However, hereditary persistance of alpha-fetoprotein may also be found in individuals with no obvious pathology. The protein is thought to be the fetal counterpart of serum albumin, and the alpha-fetoprotein and albumin genes are present in tandem in the same transcriptional orientation on chromosome 4. Alpha-fetoprotein is found in monomeric as well as dimeric and trimeric forms, and binds copper, nickel, fatty acids and bilirubin. The level of alpha-fetoprotein in amniotic fluid is used to measure renal loss of protein to screen for spina bifida and anencephaly. [provided by RefSeq, Jul 2008]
PHENOTYPE: Females homozygous for targeted null mutations are sterile due to impairment of the hypothalamic/pituitary system and failure of the estrus cycle resulting in anovulation. Homozygous males are fertile. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Afp||
(F):5'- GCTCTAAGTTCCTACCTTAGAGG -3'
(R):5'- TAGACAGCCAGCCTCAGTTG -3'
(F):5'- AAGTTCCTACCTTAGAGGATAAACC -3'
(R):5'- ATCACTTCATGGTCTTTATCATTGC -3'