Incidental Mutation 'IGL03261:Afp'
ID |
414827 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Afp
|
Ensembl Gene |
ENSMUSG00000054932 |
Gene Name |
alpha fetoprotein |
Synonyms |
alpha-foetoprotein |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.515)
|
Stock # |
IGL03261
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
90638596-90656766 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 90639610 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144019
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042755]
[ENSMUST00000042755]
[ENSMUST00000200693]
[ENSMUST00000200693]
|
AlphaFold |
P02772 |
Predicted Effect |
probably null
Transcript: ENSMUST00000042755
|
SMART Domains |
Protein: ENSMUSP00000041006 Gene: ENSMUSG00000054932
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 |
probably null
Transcript: ENSMUST00000042755
|
SMART Domains |
Protein: ENSMUSP00000041006 Gene: ENSMUSG00000054932
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 |
probably null
Transcript: ENSMUST00000200693
|
SMART Domains |
Protein: ENSMUSP00000144019 Gene: ENSMUSG00000054932
Domain | Start | End | E-Value | Type |
ALBUMIN
|
20 |
121 |
1.4e-3 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000200693
|
SMART Domains |
Protein: ENSMUSP00000144019 Gene: ENSMUSG00000054932
Domain | Start | End | E-Value | Type |
ALBUMIN
|
20 |
121 |
1.4e-3 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201061
|
Coding Region Coverage |
|
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: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310022A10Rik |
T |
G |
7: 27,279,863 (GRCm39) |
Y281* |
probably null |
Het |
Adamts3 |
T |
C |
5: 90,030,756 (GRCm39) |
|
probably benign |
Het |
Ap1g2 |
T |
C |
14: 55,337,987 (GRCm39) |
T634A |
probably benign |
Het |
Cidec |
A |
G |
6: 113,410,133 (GRCm39) |
V32A |
probably benign |
Het |
Dip2a |
G |
A |
10: 76,140,982 (GRCm39) |
P315S |
possibly damaging |
Het |
Hoxc11 |
T |
C |
15: 102,863,178 (GRCm39) |
V73A |
probably benign |
Het |
Jmjd1c |
A |
G |
10: 67,067,849 (GRCm39) |
Y1784C |
probably damaging |
Het |
Mmp21 |
A |
G |
7: 133,276,403 (GRCm39) |
V480A |
probably benign |
Het |
Nek4 |
C |
T |
14: 30,697,247 (GRCm39) |
T471I |
probably benign |
Het |
Nr4a2 |
A |
G |
2: 57,000,199 (GRCm39) |
V299A |
probably benign |
Het |
Or14j8 |
A |
T |
17: 38,263,697 (GRCm39) |
S73T |
possibly damaging |
Het |
Or6c5 |
A |
G |
10: 129,074,272 (GRCm39) |
T85A |
possibly damaging |
Het |
Ptprg |
A |
G |
14: 12,225,552 (GRCm38) |
D505G |
probably damaging |
Het |
Rag2 |
A |
G |
2: 101,460,608 (GRCm39) |
D306G |
probably damaging |
Het |
Rpap2 |
T |
A |
5: 107,746,426 (GRCm39) |
S38T |
possibly damaging |
Het |
Scart2 |
A |
G |
7: 139,874,746 (GRCm39) |
H408R |
probably benign |
Het |
Scgb2b7 |
A |
T |
7: 31,404,506 (GRCm39) |
C65S |
probably damaging |
Het |
Slx4ip |
A |
T |
2: 136,888,659 (GRCm39) |
R113S |
probably benign |
Het |
Smyd5 |
T |
A |
6: 85,409,000 (GRCm39) |
M5K |
probably benign |
Het |
Stkld1 |
A |
T |
2: 26,842,789 (GRCm39) |
H587L |
probably benign |
Het |
Taf4b |
A |
G |
18: 14,954,585 (GRCm39) |
T554A |
probably benign |
Het |
Tex16 |
C |
A |
X: 111,028,552 (GRCm39) |
D350E |
possibly damaging |
Het |
Tex38 |
T |
C |
4: 115,637,723 (GRCm39) |
K27E |
possibly damaging |
Het |
Trdv4 |
T |
C |
14: 54,312,875 (GRCm39) |
L83P |
possibly damaging |
Het |
Ugt2a3 |
G |
A |
5: 87,484,439 (GRCm39) |
P195L |
probably damaging |
Het |
Vmn1r120 |
A |
G |
7: 20,787,450 (GRCm39) |
L87P |
probably damaging |
Het |
Zfp236 |
T |
C |
18: 82,648,733 (GRCm39) |
D916G |
possibly damaging |
Het |
|
Other mutations in Afp |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
|
Posted On |
2016-08-02 |