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)
|
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
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: 99.2%
- 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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
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 |
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 |