Incidental Mutation 'R8496:Afp'
ID 658265
Institutional Source Beutler Lab
Gene Symbol Afp
Ensembl Gene ENSMUSG00000054932
Gene Name alpha fetoprotein
Synonyms alpha-foetoprotein
MMRRC Submission 067938-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.515) question?
Stock # R8496 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 90638596-90656766 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 90639572 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Phenylalanine at position 34 (S34F)
Ref Sequence ENSEMBL: ENSMUSP00000144019 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042755] [ENSMUST00000200693]
AlphaFold P02772
Predicted Effect probably damaging
Transcript: ENSMUST00000042755
AA Change: S34F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000041006
Gene: ENSMUSG00000054932
AA Change: S34F

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 probably damaging
Transcript: ENSMUST00000200693
AA Change: S34F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144019
Gene: ENSMUSG00000054932
AA Change: S34F

DomainStartEndE-ValueType
ALBUMIN 20 121 1.4e-3 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik A G 5: 138,645,120 (GRCm39) E335G probably benign Het
Ano6 T A 15: 95,847,807 (GRCm39) I639N probably damaging Het
Atp13a1 T G 8: 70,250,618 (GRCm39) V411G probably damaging Het
Cadm2 A T 16: 66,461,309 (GRCm39) C383S probably damaging Het
Capn2 T C 1: 182,304,840 (GRCm39) I556V probably benign Het
Cd34 A G 1: 194,642,089 (GRCm39) E322G probably benign Het
Cel T C 2: 28,446,200 (GRCm39) D557G probably benign Het
Cemip T C 7: 83,600,634 (GRCm39) I996V probably benign Het
Clca3a1 A T 3: 144,453,182 (GRCm39) *514R probably null Het
Cry2 C G 2: 92,257,284 (GRCm39) R95P probably damaging Het
Ctse T A 1: 131,592,118 (GRCm39) I148N probably damaging Het
Cyp4f13 G C 17: 33,143,833 (GRCm39) P497R probably damaging Het
Dsn1 C T 2: 156,839,640 (GRCm39) V254M probably benign Het
Fcgbpl1 A G 7: 27,843,377 (GRCm39) D755G possibly damaging Het
Gm4847 T A 1: 166,469,761 (GRCm39) H104L possibly damaging Het
Gpr88 T C 3: 116,046,117 (GRCm39) T65A possibly damaging Het
Gtse1 A G 15: 85,746,283 (GRCm39) D33G probably damaging Het
Ints6 A G 14: 62,943,325 (GRCm39) Y455H probably benign Het
Kctd1 A T 18: 15,107,228 (GRCm39) C150S probably damaging Het
Kctd11 T G 11: 69,770,877 (GRCm39) T54P probably damaging Het
Kif1b C A 4: 149,277,068 (GRCm39) G56* probably null Het
Kifap3 T A 1: 163,656,866 (GRCm39) probably null Het
Naip5 G T 13: 100,349,247 (GRCm39) H1360Q probably benign Het
Ncapd2 T C 6: 125,147,127 (GRCm39) E1198G probably damaging Het
Nova1 T A 12: 46,760,325 (GRCm39) K90* probably null Het
Odc1 T A 12: 17,598,396 (GRCm39) L179H probably damaging Het
Or10w1 T A 19: 13,632,388 (GRCm39) H193Q probably damaging Het
Or1ad8 T C 11: 50,897,877 (GRCm39) V26A probably benign Het
Or1s2 A G 19: 13,758,384 (GRCm39) N136S probably benign Het
Palm C T 10: 79,642,485 (GRCm39) T6I probably benign Het
Parp10 T A 15: 76,117,749 (GRCm39) D879V probably damaging Het
Phf2 A G 13: 48,971,181 (GRCm39) V497A unknown Het
Pparg A G 6: 115,440,112 (GRCm39) I199V probably benign Het
Ppm1b T A 17: 85,301,660 (GRCm39) I180N probably damaging Het
Prdx5 A T 19: 6,885,542 (GRCm39) C37* probably null Het
Ptprz1 A T 6: 22,972,797 (GRCm39) T236S probably damaging Het
Rab5b G A 10: 128,518,776 (GRCm39) Q119* probably null Het
Rdh19 T A 10: 127,695,469 (GRCm39) W228R probably damaging Het
Schip1 G T 3: 68,401,946 (GRCm39) G36C probably damaging Het
Secisbp2 T C 13: 51,819,383 (GRCm39) V321A probably damaging Het
Slc6a5 T A 7: 49,585,960 (GRCm39) V426D probably damaging Het
Syne1 T A 10: 5,178,896 (GRCm39) E4526V probably damaging Het
Syne1 T C 10: 5,268,441 (GRCm39) K2083E probably damaging Het
Tecta T A 9: 42,241,547 (GRCm39) I2143F probably benign Het
Tfap4 T C 16: 4,369,170 (GRCm39) D90G probably damaging Het
Ttll12 T C 15: 83,462,010 (GRCm39) Y569C probably damaging Het
Zfp326 T G 5: 106,036,451 (GRCm39) S121A 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
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
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'- TCTGCAACTGATCATTCTGGTTAAC -3'
(R):5'- TGACCGAAGTTAAACATGTTGC -3'

Sequencing Primer
(F):5'- ACTGATCATTCTGGTTAACTTTGTTC -3'
(R):5'- GCTTATCAGTGTGATATTCAGCAC -3'
Posted On 2021-01-18