Incidental Mutation 'R5035:Afp'
ID 389495
Institutional Source Beutler Lab
Gene Symbol Afp
Ensembl Gene ENSMUSG00000054932
Gene Name alpha fetoprotein
Synonyms alpha-foetoprotein
MMRRC Submission 042626-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.515) question?
Stock # R5035 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 90638596-90656766 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 90655764 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 583 (D583G)
Ref Sequence ENSEMBL: ENSMUSP00000041006 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042755]
AlphaFold P02772
Predicted Effect probably benign
Transcript: ENSMUST00000042755
AA Change: D583G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000041006
Gene: ENSMUSG00000054932
AA Change: D583G

DomainStartEndE-ValueType
ALBUMIN 20 201 5.33e-70 SMART
ALBUMIN 208 393 8.52e-69 SMART
ALBUMIN 400 591 6.39e-82 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200728
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202209
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202955
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.8%
Validation Efficiency 98% (46/47)
MGI Phenotype 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
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acat1 T C 9: 53,494,810 (GRCm39) I361V probably benign Het
Bcas3 C T 11: 85,434,771 (GRCm39) A552V probably damaging Het
Bfsp2 T G 9: 103,357,065 (GRCm39) T121P probably benign Het
Bicra C T 7: 15,713,349 (GRCm39) R951Q possibly damaging Het
Cdc40 G A 10: 40,725,809 (GRCm39) T220I probably benign Het
Cdk5rap3 T C 11: 96,806,911 (GRCm39) probably benign Het
Clcnka A T 4: 141,122,469 (GRCm39) Y179* probably null Het
Creb3l1 T A 2: 91,817,431 (GRCm39) I361F probably benign Het
Csmd3 T C 15: 47,454,175 (GRCm39) Y3557C probably damaging Het
Dab2ip A G 2: 35,599,953 (GRCm39) S190G probably benign Het
Dbx1 T C 7: 49,282,284 (GRCm39) H307R unknown Het
Dock8 C A 19: 25,063,571 (GRCm39) P258T probably damaging Het
Eml6 T C 11: 29,804,187 (GRCm39) I305V probably benign Het
Frem3 T A 8: 81,342,543 (GRCm39) F1612Y probably damaging Het
Fubp1 A G 3: 151,920,488 (GRCm39) T76A probably benign Het
Glmp G C 3: 88,233,951 (GRCm39) probably benign Het
Gm20918 A G Y: 5,045,992 (GRCm39) Q183R probably benign Het
Krt28 T C 11: 99,257,650 (GRCm39) N397S probably benign Het
Lin9 T A 1: 180,496,763 (GRCm39) L351I probably benign Het
Map3k13 T C 16: 21,740,421 (GRCm39) Y583H probably benign Het
Mcm3 A T 1: 20,873,642 (GRCm39) probably benign Het
Misp T C 10: 79,663,790 (GRCm39) V588A probably benign Het
Or1j19 A G 2: 36,676,903 (GRCm39) D122G probably damaging Het
Or2z9 T A 8: 72,853,922 (GRCm39) L106H probably damaging Het
Or4c105 A T 2: 88,648,443 (GRCm39) K309N probably benign Het
Or51a43 G A 7: 103,717,614 (GRCm39) T208I possibly damaging Het
Or8g37 G A 9: 39,731,390 (GRCm39) A152T possibly damaging Het
Osbpl9 A G 4: 108,923,364 (GRCm39) F449L probably damaging Het
Pkhd1l1 A G 15: 44,431,720 (GRCm39) D3358G probably damaging Het
Prodh2 A T 7: 30,205,904 (GRCm39) S247C possibly damaging Het
Prr23a3 G A 9: 98,747,183 (GRCm39) E46K possibly damaging Het
Ptprz1 A G 6: 23,016,214 (GRCm39) I837V probably benign Het
Rabgap1l A C 1: 160,551,606 (GRCm39) F263V probably damaging Het
Rnf4 A G 5: 34,508,683 (GRCm39) K182E probably damaging Het
Slc24a2 G T 4: 86,929,943 (GRCm39) R469S possibly damaging Het
Speer2 A G 16: 69,654,829 (GRCm39) probably null Het
Tg C A 15: 66,553,662 (GRCm39) probably null Het
Tns1 G A 1: 73,992,979 (GRCm39) probably benign Het
Top2b G T 14: 16,409,966 (GRCm38) A878S probably benign Het
Trgc4 G T 13: 19,536,506 (GRCm39) R188L unknown Het
Ugt3a1 G A 15: 9,361,704 (GRCm39) R160Q probably benign Het
Ush2a G T 1: 188,643,005 (GRCm39) L4122F probably damaging Het
Other mutations in Afp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03261:Afp APN 5 90,639,610 (GRCm39) critical splice donor site probably null
R0018:Afp UTSW 5 90,654,600 (GRCm39) missense probably damaging 1.00
R0387:Afp UTSW 5 90,645,150 (GRCm39) missense probably damaging 1.00
R0529:Afp UTSW 5 90,652,254 (GRCm39) missense probably damaging 1.00
R1401:Afp UTSW 5 90,649,486 (GRCm39) splice site probably benign
R1471:Afp UTSW 5 90,651,541 (GRCm39) missense possibly damaging 0.49
R1666:Afp UTSW 5 90,652,927 (GRCm39) missense probably damaging 0.99
R1800:Afp UTSW 5 90,638,655 (GRCm39) missense probably benign 0.00
R2138:Afp UTSW 5 90,647,506 (GRCm39) missense probably damaging 1.00
R2248:Afp UTSW 5 90,649,429 (GRCm39) missense probably damaging 0.99
R4324:Afp UTSW 5 90,655,764 (GRCm39) missense probably benign 0.00
R4555:Afp UTSW 5 90,654,546 (GRCm39) missense possibly damaging 0.88
R5241:Afp UTSW 5 90,649,473 (GRCm39) missense probably benign 0.37
R5925:Afp UTSW 5 90,645,147 (GRCm39) missense probably damaging 1.00
R6220:Afp UTSW 5 90,652,269 (GRCm39) missense possibly damaging 0.78
R6719:Afp UTSW 5 90,651,562 (GRCm39) missense probably benign 0.01
R8211:Afp UTSW 5 90,649,345 (GRCm39) missense possibly damaging 0.73
R8496:Afp UTSW 5 90,639,572 (GRCm39) missense probably damaging 1.00
R8960:Afp UTSW 5 90,651,500 (GRCm39) missense probably benign 0.12
R9112:Afp UTSW 5 90,652,289 (GRCm39) critical splice donor site probably null
R9326:Afp UTSW 5 90,652,205 (GRCm39) missense probably damaging 0.99
Z1088:Afp UTSW 5 90,652,874 (GRCm39) missense possibly damaging 0.54
Predicted Primers PCR Primer
(F):5'- TAAACGTTCTGGGAAGGTGCG -3'
(R):5'- GCTCTTAAGTGAGGTCAGGAG -3'

Sequencing Primer
(F):5'- GGCTTTCTTTGCATGGCAGACTC -3'
(R):5'- CTCTTAAGTGAGGTCAGGAGTATTTC -3'
Posted On 2016-06-06