Incidental Mutation 'R4555:Afp'
| ID |
341832 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Afp
|
| Ensembl Gene |
ENSMUSG00000054932 |
| Gene Name |
alpha fetoprotein |
| Synonyms |
alpha-foetoprotein |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.515)
|
| Stock # |
R4555 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
90638596-90656766 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 90654546 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Serine
at position 528
(I528S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041006
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042755]
|
| AlphaFold |
P02772 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000042755
AA Change: I528S
PolyPhen 2
Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000041006
Gene: ENSMUSG00000054932
AA Change: I528S
| Domain | Start | End | E-Value | Type |
|---|
|
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
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830005F24Rik |
T |
C |
13: 48,667,937 (GRCm39) |
|
probably benign |
Het |
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Adamts17 |
A |
T |
7: 66,677,641 (GRCm39) |
E518D |
probably damaging |
Het |
| Cul9 |
T |
C |
17: 46,812,755 (GRCm39) |
D2407G |
possibly damaging |
Het |
| Cyp19a1 |
T |
C |
9: 54,074,105 (GRCm39) |
E483G |
probably damaging |
Het |
| Dennd2c |
G |
A |
3: 103,039,202 (GRCm39) |
V117I |
probably benign |
Het |
| Inha |
C |
T |
1: 75,486,227 (GRCm39) |
P174L |
possibly damaging |
Het |
| Myo15a |
A |
G |
11: 60,387,763 (GRCm39) |
R746G |
probably damaging |
Het |
| Ndufaf7 |
T |
C |
17: 79,249,516 (GRCm39) |
S138P |
probably benign |
Het |
| Osmr |
T |
C |
15: 6,845,201 (GRCm39) |
Q855R |
possibly damaging |
Het |
| Pip4k2a |
C |
T |
2: 18,877,103 (GRCm39) |
D211N |
probably damaging |
Het |
| Pitpnm1 |
A |
G |
19: 4,153,085 (GRCm39) |
Q135R |
probably benign |
Het |
| Plxna1 |
G |
T |
6: 89,300,310 (GRCm39) |
T1591K |
probably damaging |
Het |
| Rdh19 |
T |
A |
10: 127,686,020 (GRCm39) |
L44Q |
probably benign |
Het |
| Rom1 |
T |
C |
19: 8,905,380 (GRCm39) |
T267A |
possibly damaging |
Het |
| Smad3 |
C |
T |
9: 63,562,070 (GRCm39) |
V108I |
possibly damaging |
Het |
| Sptb |
A |
C |
12: 76,659,625 (GRCm39) |
S1092A |
probably benign |
Het |
| Thap12 |
A |
G |
7: 98,365,052 (GRCm39) |
N407D |
probably benign |
Het |
| Tmc5 |
T |
C |
7: 118,269,956 (GRCm39) |
I902T |
probably benign |
Het |
| Ugt1a6a |
C |
T |
1: 88,066,349 (GRCm39) |
R52* |
probably null |
Het |
| Usp54 |
C |
T |
14: 20,611,090 (GRCm39) |
R1242H |
probably benign |
Het |
| Vps16 |
T |
C |
2: 130,285,496 (GRCm39) |
V813A |
probably damaging |
Het |
|
| Other mutations in Afp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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'- CAGGCCGACATTTTCATTGG -3'
(R):5'- AAAATTGTCTGCCTCCGTGG -3'
Sequencing Primer
(F):5'- AGGCCGACATTTTCATTGGACATTTG -3'
(R):5'- TAACTTCCCACATAAGGCTGTG -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation