Incidental Mutation 'R5241:Afp'
| ID |
400812 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Afp
|
| Ensembl Gene |
ENSMUSG00000054932 |
| Gene Name |
alpha fetoprotein |
| Synonyms |
alpha-foetoprotein |
| MMRRC Submission |
042812-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.515)
|
| Stock # |
R5241 (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 90649473 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 347
(M347V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041006
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042755]
|
| AlphaFold |
P02772 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042755
AA Change: M347V
PolyPhen 2
Score 0.373 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000041006
Gene: ENSMUSG00000054932
AA Change: M347V
| 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: ENSMUST00000202955
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 91.8%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930033H14Rik |
A |
G |
10: 69,048,581 (GRCm39) |
|
probably null |
Het |
| Adgrb3 |
T |
C |
1: 25,150,871 (GRCm39) |
T881A |
possibly damaging |
Het |
| Adgrv1 |
A |
T |
13: 81,637,048 (GRCm39) |
C3464* |
probably null |
Het |
| Apc2 |
A |
G |
10: 80,148,068 (GRCm39) |
T1041A |
probably benign |
Het |
| Atl1 |
T |
C |
12: 70,005,887 (GRCm39) |
S398P |
possibly damaging |
Het |
| Atp8b4 |
G |
A |
2: 126,225,646 (GRCm39) |
P528L |
probably benign |
Het |
| Bahcc1 |
C |
A |
11: 120,162,229 (GRCm39) |
P176T |
probably damaging |
Het |
| Bsnd |
A |
G |
4: 106,345,182 (GRCm39) |
V88A |
probably benign |
Het |
| Dnah7c |
T |
A |
1: 46,569,660 (GRCm39) |
F687Y |
probably benign |
Het |
| Dok6 |
T |
C |
18: 89,616,913 (GRCm39) |
I23M |
possibly damaging |
Het |
| Fcgbp |
A |
T |
7: 27,784,624 (GRCm39) |
D228V |
probably damaging |
Het |
| Gatad2a |
G |
A |
8: 70,370,667 (GRCm39) |
Q107* |
probably null |
Het |
| Glis3 |
G |
T |
19: 28,327,423 (GRCm39) |
T663K |
probably benign |
Het |
| Gm10784 |
T |
A |
13: 50,099,129 (GRCm39) |
|
noncoding transcript |
Het |
| Gsdmc2 |
C |
T |
15: 63,696,743 (GRCm39) |
R476H |
probably benign |
Het |
| Gsdmc3 |
A |
G |
15: 63,735,995 (GRCm39) |
S202P |
possibly damaging |
Het |
| Map3k8 |
T |
C |
18: 4,340,750 (GRCm39) |
E188G |
probably damaging |
Het |
| Mccc1 |
T |
A |
3: 36,028,345 (GRCm39) |
Q487L |
probably benign |
Het |
| Msantd1 |
A |
G |
5: 35,078,813 (GRCm39) |
D116G |
probably damaging |
Het |
| Myh1 |
T |
A |
11: 67,095,275 (GRCm39) |
S212T |
probably benign |
Het |
| Nr1h4 |
A |
G |
10: 89,319,351 (GRCm39) |
Y158H |
probably damaging |
Het |
| Or4p19 |
T |
C |
2: 88,242,442 (GRCm39) |
T187A |
possibly damaging |
Het |
| Or51f1e |
T |
C |
7: 102,747,524 (GRCm39) |
V192A |
probably benign |
Het |
| Or6k8-ps1 |
T |
A |
1: 173,979,667 (GRCm39) |
I195N |
probably benign |
Het |
| Pcnt |
A |
T |
10: 76,269,451 (GRCm39) |
H272Q |
probably benign |
Het |
| Pdia5 |
T |
C |
16: 35,250,145 (GRCm39) |
N242S |
probably benign |
Het |
| Pkd1l2 |
A |
T |
8: 117,761,857 (GRCm39) |
D1441E |
probably damaging |
Het |
| Runx2 |
G |
T |
17: 44,950,664 (GRCm39) |
Y203* |
probably null |
Het |
| Sdr9c7 |
T |
G |
10: 127,745,659 (GRCm39) |
I257S |
probably benign |
Het |
| Slitrk1 |
A |
G |
14: 109,150,444 (GRCm39) |
M89T |
probably benign |
Het |
| St14 |
G |
T |
9: 31,011,714 (GRCm39) |
C397* |
probably null |
Het |
| Tas2r123 |
T |
C |
6: 132,824,181 (GRCm39) |
I26T |
probably benign |
Het |
| Tmem144 |
A |
T |
3: 79,721,431 (GRCm39) |
M329K |
probably benign |
Het |
| Tmem252 |
T |
C |
19: 24,651,491 (GRCm39) |
M20T |
probably benign |
Het |
| Umodl1 |
T |
C |
17: 31,203,066 (GRCm39) |
V473A |
probably benign |
Het |
| Wdr70 |
A |
G |
15: 8,108,700 (GRCm39) |
C149R |
probably benign |
Het |
| Xirp2 |
C |
T |
2: 67,312,704 (GRCm39) |
R58* |
probably null |
Het |
| Zer1 |
A |
C |
2: 29,994,982 (GRCm39) |
L471R |
probably damaging |
Het |
| Zfp101 |
C |
T |
17: 33,601,210 (GRCm39) |
C182Y |
probably benign |
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 |
|
R5035:Afp
|
UTSW |
5 |
90,655,764 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- TCCGGGCTCTAAGTTCCTAC -3'
(R):5'- CATCACGTTACAGTAGATCTCATTCC -3'
Sequencing Primer
(F):5'- GGCTCTAAGTTCCTACCTTAGAGG -3'
(R):5'- CAGTAGATCTCATTCCTAGCTACAAG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation