Incidental Mutation 'IGL00234:Foxb1'
| ID |
2283 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Foxb1
|
| Ensembl Gene |
ENSMUSG00000059246 |
| Gene Name |
forkhead box B1 |
| Synonyms |
C43, Hfh-e5.1, TWH, Foxb1a, Foxb1b, Fkh5, Mf3 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.546)
|
| Stock # |
IGL00234
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
69664992-69668222 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 69667480 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 17
(S17P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096197
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071281]
|
| AlphaFold |
Q64732 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071281
AA Change: S17P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000096197
Gene: ENSMUSG00000059246
AA Change: S17P
| Domain | Start | End | E-Value | Type |
|---|
|
FH
|
11 |
101 |
6.75e-62 |
SMART |
|
low complexity region
|
102 |
113 |
N/A |
INTRINSIC |
|
low complexity region
|
265 |
309 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180488
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180914
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Targeted null mutant mice show variable embryonic lethality with neural tube defects or severe posterior reduction. Survivors have high postnatal mortality, reduced growth, motor weakness, midbrain abnormalities and females have a lactational defect. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Angptl4 |
T |
C |
17: 34,000,242 (GRCm39) |
N42S |
probably damaging |
Het |
| Apoc4 |
A |
T |
7: 19,412,665 (GRCm39) |
S27T |
probably benign |
Het |
| Atp13a3 |
T |
A |
16: 30,170,097 (GRCm39) |
Q363L |
probably damaging |
Het |
| Cfap69 |
A |
G |
5: 5,667,295 (GRCm39) |
Y417H |
probably benign |
Het |
| Cry1 |
A |
G |
10: 84,982,698 (GRCm39) |
S243P |
probably benign |
Het |
| Epb41l2 |
A |
G |
10: 25,377,734 (GRCm39) |
T116A |
probably damaging |
Het |
| Glb1l3 |
A |
T |
9: 26,764,967 (GRCm39) |
L148H |
probably damaging |
Het |
| Hnrnpk |
T |
C |
13: 58,543,111 (GRCm39) |
|
probably benign |
Het |
| Icam5 |
G |
A |
9: 20,948,091 (GRCm39) |
|
probably null |
Het |
| Lats1 |
A |
G |
10: 7,567,330 (GRCm39) |
I34V |
probably damaging |
Het |
| Lipc |
A |
T |
9: 70,727,719 (GRCm39) |
Y43N |
possibly damaging |
Het |
| Maml3 |
A |
G |
3: 51,598,125 (GRCm39) |
I207T |
probably benign |
Het |
| Nfatc2 |
A |
T |
2: 168,346,810 (GRCm39) |
S761R |
probably damaging |
Het |
| Nubp1 |
G |
A |
16: 10,240,703 (GRCm39) |
G280S |
probably damaging |
Het |
| Or4d2 |
T |
G |
11: 87,784,191 (GRCm39) |
R186S |
possibly damaging |
Het |
| Pabpc4 |
A |
G |
4: 123,180,497 (GRCm39) |
N73S |
probably damaging |
Het |
| Pcsk6 |
G |
A |
7: 65,577,568 (GRCm39) |
C163Y |
probably damaging |
Het |
| Phf3 |
G |
A |
1: 30,850,928 (GRCm39) |
T1142M |
probably damaging |
Het |
| Prune2 |
T |
A |
19: 17,145,708 (GRCm39) |
|
probably null |
Het |
| Psmd7 |
A |
G |
8: 108,312,342 (GRCm39) |
V85A |
probably damaging |
Het |
| Rc3h2 |
A |
G |
2: 37,279,759 (GRCm39) |
V490A |
possibly damaging |
Het |
| Sh3tc1 |
A |
C |
5: 35,868,301 (GRCm39) |
S388A |
probably damaging |
Het |
| Trank1 |
T |
C |
9: 111,221,677 (GRCm39) |
F2805L |
probably damaging |
Het |
| Yars2 |
T |
C |
16: 16,121,185 (GRCm39) |
L113P |
probably damaging |
Het |
| Zfp82 |
G |
A |
7: 29,765,755 (GRCm39) |
S16L |
probably damaging |
Het |
|
| Other mutations in Foxb1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01475:Foxb1
|
APN |
9 |
69,666,550 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02153:Foxb1
|
APN |
9 |
69,666,985 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4514001:Foxb1
|
UTSW |
9 |
69,667,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0570:Foxb1
|
UTSW |
9 |
69,666,844 (GRCm39) |
missense |
probably benign |
|
|
R1618:Foxb1
|
UTSW |
9 |
69,667,293 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1624:Foxb1
|
UTSW |
9 |
69,666,598 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1665:Foxb1
|
UTSW |
9 |
69,667,104 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1913:Foxb1
|
UTSW |
9 |
69,667,383 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R2243:Foxb1
|
UTSW |
9 |
69,667,146 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4913:Foxb1
|
UTSW |
9 |
69,666,859 (GRCm39) |
missense |
probably benign |
|
|
R4925:Foxb1
|
UTSW |
9 |
69,667,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5630:Foxb1
|
UTSW |
9 |
69,667,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5668:Foxb1
|
UTSW |
9 |
69,667,528 (GRCm39) |
start codon destroyed |
probably damaging |
0.96 |
|
R7540:Foxb1
|
UTSW |
9 |
69,667,141 (GRCm39) |
nonsense |
probably null |
|
|
R9369:Foxb1
|
UTSW |
9 |
69,666,930 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2011-12-09 |
Incidental Mutation