Incidental Mutation 'R0018:Afp'
ID 64933
Institutional Source Beutler Lab
Gene Symbol Afp
Ensembl Gene ENSMUSG00000054932
Gene Name alpha fetoprotein
Synonyms alpha-foetoprotein
MMRRC Submission 038313-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.515) question?
Stock # R0018 (G1)
Quality Score 170
Status Validated
Chromosome 5
Chromosomal Location 90638596-90656766 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 90654600 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Proline at position 546 (Q546P)
Ref Sequence ENSEMBL: ENSMUSP00000041006 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042755]
AlphaFold P02772
Predicted Effect probably damaging
Transcript: ENSMUST00000042755
AA Change: Q546P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000041006
Gene: ENSMUSG00000054932
AA Change: Q546P

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 0.8548 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 99.0%
  • 10x: 97.9%
  • 20x: 96.6%
Validation Efficiency 100% (64/64)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 T C 17: 24,532,162 (GRCm39) probably null Het
Api5 A T 2: 94,251,329 (GRCm39) probably null Het
Atp2b4 T A 1: 133,645,609 (GRCm39) I982F probably damaging Het
BC024139 G A 15: 76,005,087 (GRCm39) Q592* probably null Het
Capn7 T A 14: 31,076,069 (GRCm39) C290* probably null Het
Ccn1 A G 3: 145,355,186 (GRCm39) L23P probably damaging Het
Celsr1 T A 15: 85,915,243 (GRCm39) D910V possibly damaging Het
Chga T C 12: 102,524,764 (GRCm39) S45P probably damaging Het
Cpne2 T A 8: 95,282,681 (GRCm39) C59S possibly damaging Het
Cyp2b13 G A 7: 25,785,375 (GRCm39) R248H probably benign Het
Dennd1a T A 2: 37,748,472 (GRCm39) T336S possibly damaging Het
Drc7 A G 8: 95,800,862 (GRCm39) Y628C probably damaging Het
Dse A G 10: 34,029,464 (GRCm39) V542A probably benign Het
Dspp A T 5: 104,326,096 (GRCm39) S820C unknown Het
Efcab3 G A 11: 104,612,378 (GRCm39) probably null Het
Eif5b T C 1: 38,057,970 (GRCm39) S91P unknown Het
Epop A G 11: 97,519,017 (GRCm39) V364A probably benign Het
Ext2 G A 2: 93,626,037 (GRCm39) P341L probably damaging Het
Galns T C 8: 123,311,724 (GRCm39) T429A probably benign Het
Gsx2 A G 5: 75,237,828 (GRCm39) K260R probably damaging Het
H2-M10.6 A C 17: 37,124,941 (GRCm39) H286P probably damaging Het
Hectd4 A G 5: 121,392,242 (GRCm39) N169D possibly damaging Het
Helz2 C A 2: 180,874,552 (GRCm39) G1981C probably damaging Het
Hmcn1 T C 1: 150,528,302 (GRCm39) D3282G probably benign Het
Hnmt T A 2: 23,893,640 (GRCm39) N285Y possibly damaging Het
Hr A G 14: 70,795,717 (GRCm39) R450G probably benign Het
Kat6a A G 8: 23,419,289 (GRCm39) D684G possibly damaging Het
Kif27 T G 13: 58,435,867 (GRCm39) I1309L probably benign Het
Mab21l4 T A 1: 93,082,327 (GRCm39) D264V probably benign Het
Man2b1 T A 8: 85,824,118 (GRCm39) V1005E probably damaging Het
Me2 A T 18: 73,924,923 (GRCm39) F265I possibly damaging Het
Myo9a A T 9: 59,779,007 (GRCm39) T1588S probably benign Het
Neu4 T A 1: 93,953,060 (GRCm39) D476E probably benign Het
Nlrp9c T A 7: 26,071,423 (GRCm39) Q895L possibly damaging Het
Or1e35 T C 11: 73,797,452 (GRCm39) I289V probably damaging Het
Or1p1c A C 11: 74,160,934 (GRCm39) T240P probably benign Het
Pdzd8 C T 19: 59,289,105 (GRCm39) R765H probably damaging Het
Plk1 T C 7: 121,768,208 (GRCm39) probably null Het
Ppfia2 A G 10: 106,678,647 (GRCm39) probably benign Het
Prkdc T C 16: 15,544,406 (GRCm39) Y1799H probably benign Het
Psmc1 T C 12: 100,082,951 (GRCm39) probably benign Het
Ptchd3 A C 11: 121,733,170 (GRCm39) I687L probably benign Het
Ptprh A G 7: 4,604,845 (GRCm39) probably null Het
Pus3 A G 9: 35,477,920 (GRCm39) D384G probably benign Het
Rab44 C T 17: 29,358,354 (GRCm39) P181S probably benign Het
Rasa2 A G 9: 96,454,016 (GRCm39) S307P probably damaging Het
Rbpms2 A G 9: 65,558,360 (GRCm39) D142G probably damaging Het
Reln A T 5: 22,130,369 (GRCm39) D2647E probably benign Het
Ryr2 G A 13: 11,610,109 (GRCm39) T4239I possibly damaging Het
Sctr C A 1: 119,971,286 (GRCm39) probably benign Het
Serpinb6e A T 13: 34,021,828 (GRCm39) Y167N probably damaging Het
Slc13a5 T C 11: 72,157,301 (GRCm39) I31V probably benign Het
Slc15a4 A T 5: 127,679,074 (GRCm39) I422N probably damaging Het
Stk24 G A 14: 121,545,419 (GRCm39) probably benign Het
Vmn1r213 T A 13: 23,196,311 (GRCm39) V298D probably damaging Het
Xdh C T 17: 74,232,020 (GRCm39) R230H probably benign Het
Zfp418 A T 7: 7,185,449 (GRCm39) S471C probably benign Het
Other mutations in Afp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03261:Afp APN 5 90,639,610 (GRCm39) critical splice donor site probably null
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
R5035:Afp UTSW 5 90,655,764 (GRCm39) missense probably benign 0.00
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'- ATCAGCCACTGCTGCAACTCTTCG -3'
(R):5'- ACCATTACAGAATGTCTCCCCTCGC -3'

Sequencing Primer
(F):5'- TTCGTATTCCAACAGGAGGC -3'
(R):5'- AGAAAATTGTCTGCCTCCGTG -3'
Posted On 2013-08-06