Incidental Mutation 'IGL01823:Foxa3'
| ID |
154590 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Foxa3
|
| Ensembl Gene |
ENSMUSG00000040891 |
| Gene Name |
forkhead box A3 |
| Synonyms |
Tcf-3g, Hnf3g, Tcf3g, Hnf-3g |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01823
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
18747209-18757463 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 18748443 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 228
(T228A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043173
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036018]
|
| AlphaFold |
P35584 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036018
AA Change: T228A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000043173
Gene: ENSMUSG00000040891
AA Change: T228A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
59 |
93 |
N/A |
INTRINSIC |
|
FH
|
117 |
207 |
5.48e-62 |
SMART |
|
low complexity region
|
226 |
267 |
N/A |
INTRINSIC |
|
Pfam:HNF_C
|
304 |
332 |
1.9e-7 |
PFAM |
|
| 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 a member of the forkhead class of DNA-binding proteins. These hepatocyte nuclear factors are transcriptional activators for liver-specific transcripts such as albumin and transthyretin, and they also interact with chromatin. Similar family members in mice have roles in the regulation of metabolism and in the differentiation of the pancreas and liver. The crystal structure of a similar protein in rat has been resolved. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit reduced expression of several liver-specific and liver-enriched genes, but appear to be phenotypically normal. [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 |
|---|
| Bmp6 |
A |
G |
13: 38,682,798 (GRCm39) |
T460A |
probably damaging |
Het |
| Cd209a |
T |
C |
8: 3,798,851 (GRCm39) |
|
probably benign |
Het |
| Dock2 |
A |
G |
11: 34,212,391 (GRCm39) |
L1250P |
probably damaging |
Het |
| Evc |
T |
C |
5: 37,485,865 (GRCm39) |
N104D |
probably damaging |
Het |
| Fam161a |
A |
T |
11: 22,965,785 (GRCm39) |
E26V |
probably damaging |
Het |
| Gm8206 |
A |
T |
14: 6,017,078 (GRCm38) |
D133E |
probably benign |
Het |
| Ighv1-15 |
T |
A |
12: 114,621,212 (GRCm39) |
T38S |
probably benign |
Het |
| Ikzf1 |
A |
G |
11: 11,719,091 (GRCm39) |
D266G |
possibly damaging |
Het |
| Man2a1 |
T |
C |
17: 64,973,819 (GRCm39) |
I365T |
probably damaging |
Het |
| Mcm4 |
T |
C |
16: 15,443,995 (GRCm39) |
D756G |
probably damaging |
Het |
| Mroh9 |
G |
A |
1: 162,883,178 (GRCm39) |
L434F |
probably benign |
Het |
| Or13p4 |
A |
G |
4: 118,546,918 (GRCm39) |
C244R |
probably damaging |
Het |
| Or14c45 |
T |
C |
7: 86,176,249 (GRCm39) |
C95R |
probably damaging |
Het |
| Phldb2 |
T |
A |
16: 45,645,507 (GRCm39) |
Y313F |
probably damaging |
Het |
| Psd4 |
A |
G |
2: 24,284,444 (GRCm39) |
S103G |
probably benign |
Het |
| Ripk4 |
T |
C |
16: 97,556,483 (GRCm39) |
I87V |
possibly damaging |
Het |
| Scn9a |
A |
T |
2: 66,314,386 (GRCm39) |
F1766L |
probably damaging |
Het |
| Slc10a5 |
A |
T |
3: 10,399,574 (GRCm39) |
V362D |
possibly damaging |
Het |
| Slc12a3 |
A |
G |
8: 95,083,724 (GRCm39) |
D917G |
probably benign |
Het |
| Slc30a4 |
A |
G |
2: 122,544,012 (GRCm39) |
V110A |
probably damaging |
Het |
| Slc30a8 |
A |
G |
15: 52,159,358 (GRCm39) |
|
probably benign |
Het |
| Slc5a8 |
T |
A |
10: 88,755,334 (GRCm39) |
C480* |
probably null |
Het |
| Tmppe |
A |
G |
9: 114,234,175 (GRCm39) |
K158R |
probably benign |
Het |
| Tubb6 |
A |
G |
18: 67,535,343 (GRCm39) |
N414S |
probably damaging |
Het |
| Wnt8a |
A |
T |
18: 34,677,846 (GRCm39) |
T85S |
possibly damaging |
Het |
|
| Other mutations in Foxa3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0378:Foxa3
|
UTSW |
7 |
18,757,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1833:Foxa3
|
UTSW |
7 |
18,748,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2159:Foxa3
|
UTSW |
7 |
18,748,109 (GRCm39) |
missense |
probably benign |
0.40 |
|
R2877:Foxa3
|
UTSW |
7 |
18,748,805 (GRCm39) |
missense |
probably benign |
0.38 |
|
R4666:Foxa3
|
UTSW |
7 |
18,748,297 (GRCm39) |
nonsense |
probably null |
|
|
R5533:Foxa3
|
UTSW |
7 |
18,748,940 (GRCm39) |
nonsense |
probably null |
|
|
R5669:Foxa3
|
UTSW |
7 |
18,748,176 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7339:Foxa3
|
UTSW |
7 |
18,748,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8128:Foxa3
|
UTSW |
7 |
18,757,341 (GRCm39) |
start codon destroyed |
probably null |
0.77 |
|
R8329:Foxa3
|
UTSW |
7 |
18,748,109 (GRCm39) |
missense |
probably benign |
0.40 |
|
R9232:Foxa3
|
UTSW |
7 |
18,748,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9305:Foxa3
|
UTSW |
7 |
18,748,961 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9627:Foxa3
|
UTSW |
7 |
18,748,458 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2014-02-04 |
Incidental Mutation