Incidental Mutation 'IGL02560:Foxa2'
| ID |
298194 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Foxa2
|
| Ensembl Gene |
ENSMUSG00000037025 |
| Gene Name |
forkhead box A2 |
| Synonyms |
Tcf-3b, HNF3beta, HNF3-beta, Tcf3b, Hnf-3b, Hnf3b |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02560
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
147884797-147888889 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 147885951 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 113
(L113P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134081
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047315]
[ENSMUST00000109964]
[ENSMUST00000172928]
|
| AlphaFold |
P35583 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047315
AA Change: L288P
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000045918
Gene: ENSMUSG00000037025
AA Change: L288P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
41 |
N/A |
INTRINSIC |
|
low complexity region
|
44 |
67 |
N/A |
INTRINSIC |
|
low complexity region
|
74 |
104 |
N/A |
INTRINSIC |
|
low complexity region
|
113 |
125 |
N/A |
INTRINSIC |
|
FH
|
157 |
247 |
4.77e-62 |
SMART |
|
low complexity region
|
262 |
281 |
N/A |
INTRINSIC |
|
low complexity region
|
326 |
365 |
N/A |
INTRINSIC |
|
Pfam:HNF_C
|
374 |
448 |
1.1e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109964
AA Change: L294P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000105590
Gene: ENSMUSG00000037025
AA Change: L294P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
36 |
47 |
N/A |
INTRINSIC |
|
low complexity region
|
50 |
73 |
N/A |
INTRINSIC |
|
low complexity region
|
80 |
110 |
N/A |
INTRINSIC |
|
low complexity region
|
119 |
131 |
N/A |
INTRINSIC |
|
FH
|
163 |
253 |
4.77e-62 |
SMART |
|
low complexity region
|
268 |
287 |
N/A |
INTRINSIC |
|
low complexity region
|
332 |
371 |
N/A |
INTRINSIC |
|
Pfam:HNF_C
|
380 |
454 |
5.5e-28 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136555
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146242
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172928
AA Change: L113P
PolyPhen 2
Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000134081
Gene: ENSMUSG00000037025
AA Change: L113P
| Domain | Start | End | E-Value | Type |
|---|
|
FH
|
13 |
72 |
1.94e-12 |
SMART |
|
low complexity region
|
87 |
106 |
N/A |
INTRINSIC |
|
low complexity region
|
151 |
190 |
N/A |
INTRINSIC |
|
Pfam:HNF_C
|
199 |
273 |
4.8e-26 |
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 genes 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. This gene has been linked to sporadic cases of maturity-onset diabetes of the young. Transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Oct 2008]
PHENOTYPE: Embryos homozygous for targeted null mutations fail to form a distinct node, lack a notochord, and die by embryonic day 10 or 11. Mutants also exhibit defects of somite and neural tube organization, and lack a floor plate and motor neurons. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano4 |
C |
T |
10: 88,814,603 (GRCm39) |
W660* |
probably null |
Het |
| Atp9b |
T |
C |
18: 80,805,413 (GRCm39) |
D715G |
probably benign |
Het |
| Catsper1 |
T |
C |
19: 5,386,216 (GRCm39) |
S150P |
possibly damaging |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cldn19 |
G |
A |
4: 119,112,921 (GRCm39) |
W51* |
probably null |
Het |
| Ddx31 |
T |
C |
2: 28,765,838 (GRCm39) |
I512T |
probably damaging |
Het |
| Dsc2 |
G |
T |
18: 20,178,596 (GRCm39) |
D269E |
probably damaging |
Het |
| Dsg1b |
T |
C |
18: 20,542,235 (GRCm39) |
V914A |
possibly damaging |
Het |
| Etl4 |
A |
G |
2: 20,748,529 (GRCm39) |
E420G |
probably damaging |
Het |
| Gm6034 |
T |
G |
17: 36,367,356 (GRCm39) |
|
probably benign |
Het |
| Gtf3c4 |
A |
T |
2: 28,724,279 (GRCm39) |
Y343* |
probably null |
Het |
| Hhip |
A |
T |
8: 80,713,638 (GRCm39) |
Y563N |
probably damaging |
Het |
| Ighg2c |
A |
T |
12: 113,251,504 (GRCm39) |
C208S |
unknown |
Het |
| Lipo2 |
A |
G |
19: 33,708,348 (GRCm39) |
L222P |
possibly damaging |
Het |
| Myb |
A |
T |
10: 21,028,347 (GRCm39) |
L172Q |
probably damaging |
Het |
| Nipal3 |
A |
T |
4: 135,207,015 (GRCm39) |
Y60N |
probably damaging |
Het |
| Npas2 |
A |
T |
1: 39,373,042 (GRCm39) |
|
probably benign |
Het |
| Or5h26 |
G |
T |
16: 58,987,891 (GRCm39) |
S205* |
probably null |
Het |
| Or8k16 |
T |
A |
2: 85,519,863 (GRCm39) |
V30D |
possibly damaging |
Het |
| Or8k39 |
A |
T |
2: 86,563,578 (GRCm39) |
I126N |
probably damaging |
Het |
| Pdxdc1 |
T |
C |
16: 13,657,596 (GRCm39) |
D532G |
probably benign |
Het |
| Pwp2 |
T |
C |
10: 78,014,899 (GRCm39) |
S362G |
probably damaging |
Het |
| Senp5 |
A |
G |
16: 31,808,210 (GRCm39) |
V348A |
probably benign |
Het |
| Slc25a37 |
T |
C |
14: 69,482,741 (GRCm39) |
T187A |
probably benign |
Het |
| Svil |
A |
G |
18: 5,049,379 (GRCm39) |
I219V |
probably benign |
Het |
| Tcf4 |
A |
G |
18: 69,776,093 (GRCm39) |
|
probably benign |
Het |
| Tex15 |
T |
C |
8: 34,071,779 (GRCm39) |
V2442A |
probably benign |
Het |
| Tomm70a |
T |
C |
16: 56,970,212 (GRCm39) |
L530S |
probably benign |
Het |
| Ulbp3 |
A |
G |
10: 3,075,866 (GRCm39) |
|
noncoding transcript |
Het |
| Wscd2 |
A |
T |
5: 113,699,045 (GRCm39) |
D200V |
probably benign |
Het |
| Zfp952 |
C |
T |
17: 33,221,793 (GRCm39) |
Q53* |
probably null |
Het |
|
| Other mutations in Foxa2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00922:Foxa2
|
APN |
2 |
147,886,738 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02797:Foxa2
|
APN |
2 |
147,886,045 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6768_Foxa2_027
|
UTSW |
2 |
147,885,747 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0116:Foxa2
|
UTSW |
2 |
147,885,481 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2252:Foxa2
|
UTSW |
2 |
147,886,086 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4334:Foxa2
|
UTSW |
2 |
147,886,623 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5293:Foxa2
|
UTSW |
2 |
147,885,922 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5339:Foxa2
|
UTSW |
2 |
147,886,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6768:Foxa2
|
UTSW |
2 |
147,885,747 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8036:Foxa2
|
UTSW |
2 |
147,885,909 (GRCm39) |
missense |
probably benign |
|
|
R8137:Foxa2
|
UTSW |
2 |
147,885,768 (GRCm39) |
missense |
probably benign |
|
|
R8993:Foxa2
|
UTSW |
2 |
147,886,626 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9091:Foxa2
|
UTSW |
2 |
147,886,426 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9270:Foxa2
|
UTSW |
2 |
147,886,426 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9648:Foxa2
|
UTSW |
2 |
147,887,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation