Incidental Mutation 'R4324:Afp'
ID |
323955 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Afp
|
Ensembl Gene |
ENSMUSG00000054932 |
Gene Name |
alpha fetoprotein |
Synonyms |
alpha-foetoprotein |
MMRRC Submission |
041095-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.515)
|
Stock # |
R4324 (G1)
|
Quality Score |
225 |
Status
|
Not 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
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
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alg9 |
T |
G |
9: 50,716,643 (GRCm39) |
H22Q |
probably damaging |
Het |
Aqp6 |
G |
A |
15: 99,499,291 (GRCm39) |
M1I |
probably null |
Het |
Arhgef10 |
T |
A |
8: 14,990,335 (GRCm39) |
I270N |
possibly damaging |
Het |
Asb13 |
G |
T |
13: 3,695,012 (GRCm39) |
R160L |
possibly damaging |
Het |
Atg10 |
T |
A |
13: 91,189,085 (GRCm39) |
D75V |
probably damaging |
Het |
Atxn7l2 |
A |
T |
3: 108,113,148 (GRCm39) |
D218E |
probably damaging |
Het |
Ccdc191 |
A |
G |
16: 43,767,872 (GRCm39) |
E624G |
probably damaging |
Het |
Cdan1 |
T |
C |
2: 120,555,460 (GRCm39) |
I760M |
probably damaging |
Het |
Cdk14 |
T |
A |
5: 5,086,532 (GRCm39) |
K263* |
probably null |
Het |
Cdk5rap2 |
A |
T |
4: 70,271,851 (GRCm39) |
I287N |
probably damaging |
Het |
Cdkn2aip |
A |
T |
8: 48,165,208 (GRCm39) |
S168R |
probably benign |
Het |
Dnah17 |
C |
T |
11: 117,985,039 (GRCm39) |
V1555M |
probably benign |
Het |
Dsel |
T |
C |
1: 111,789,123 (GRCm39) |
T471A |
probably damaging |
Het |
Dzank1 |
T |
C |
2: 144,330,618 (GRCm39) |
E478G |
possibly damaging |
Het |
Enc1 |
T |
C |
13: 97,382,405 (GRCm39) |
F305S |
probably benign |
Het |
Epn1 |
T |
A |
7: 5,100,210 (GRCm39) |
M441K |
probably benign |
Het |
Fbxw24 |
C |
T |
9: 109,434,013 (GRCm39) |
|
probably null |
Het |
Gad1 |
G |
A |
2: 70,420,174 (GRCm39) |
D353N |
probably damaging |
Het |
Ggcx |
A |
G |
6: 72,405,803 (GRCm39) |
S545G |
probably benign |
Het |
H2-K2 |
C |
T |
17: 34,219,014 (GRCm39) |
V30M |
possibly damaging |
Het |
Hipk3 |
C |
A |
2: 104,276,916 (GRCm39) |
V388L |
probably damaging |
Het |
Krt82 |
T |
A |
15: 101,450,182 (GRCm39) |
M505L |
probably benign |
Het |
Man2a1 |
A |
G |
17: 64,973,788 (GRCm39) |
I355V |
probably benign |
Het |
Or5p53 |
C |
T |
7: 107,532,900 (GRCm39) |
P58S |
probably damaging |
Het |
Pcbp3 |
G |
A |
10: 76,599,177 (GRCm39) |
R109* |
probably null |
Het |
Pcgf1 |
T |
C |
6: 83,056,938 (GRCm39) |
|
probably null |
Het |
Plekhm2 |
A |
T |
4: 141,359,168 (GRCm39) |
V533E |
possibly damaging |
Het |
Prss3 |
T |
G |
6: 41,350,779 (GRCm39) |
D237A |
probably benign |
Het |
Rnf125 |
G |
A |
18: 21,110,817 (GRCm39) |
R25K |
probably benign |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Shc4 |
T |
A |
2: 125,520,670 (GRCm39) |
M260L |
probably benign |
Het |
Spag6l |
T |
C |
16: 16,605,099 (GRCm39) |
Y151C |
probably benign |
Het |
Stac3 |
C |
T |
10: 127,339,118 (GRCm39) |
P76S |
probably damaging |
Het |
Trpc7 |
T |
C |
13: 57,035,169 (GRCm39) |
I255V |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,738,923 (GRCm39) |
E3872G |
probably benign |
Het |
Uqcrfs1 |
A |
G |
13: 30,725,141 (GRCm39) |
V133A |
probably benign |
Het |
Vmn2r52 |
T |
A |
7: 9,904,940 (GRCm39) |
T300S |
possibly damaging |
Het |
Wipi1 |
A |
T |
11: 109,494,662 (GRCm39) |
I57N |
possibly 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 |
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'- TAAACGTTCTGGGAAGGTGCG -3'
(R):5'- CGCTCTTAAGTGAGGTCAGGAG -3'
Sequencing Primer
(F):5'- GGCTTTCTTTGCATGGCAGACTC -3'
(R):5'- CTCTTAAGTGAGGTCAGGAGTATTTC -3'
|
Posted On |
2015-06-24 |