Incidental Mutation 'R1347:Foxa1'
| ID |
186171 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Foxa1
|
| Ensembl Gene |
ENSMUSG00000035451 |
| Gene Name |
forkhead box A1 |
| Synonyms |
Tcf3a, Hnf3a, Tcf-3a, Hnf-3a |
| MMRRC Submission |
039412-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1347 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
57587414-57593702 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 57589070 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 383
(H383Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041118
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044380]
|
| AlphaFold |
P35582 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044380
AA Change: H383Q
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000041118
Gene: ENSMUSG00000035451
AA Change: H383Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
60 |
N/A |
INTRINSIC |
|
low complexity region
|
96 |
107 |
N/A |
INTRINSIC |
|
FH
|
168 |
258 |
3.88e-62 |
SMART |
|
low complexity region
|
273 |
286 |
N/A |
INTRINSIC |
|
low complexity region
|
318 |
328 |
N/A |
INTRINSIC |
|
low complexity region
|
347 |
365 |
N/A |
INTRINSIC |
|
Pfam:HNF_C
|
393 |
457 |
1.3e-30 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218398
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.8%
|
| 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. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit abnormal feeding, hypoglycemia, impaired glucagon secretion, hypotryglyceridemia, wasting, and lethality between postnatal days 2 and 14. [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 |
|---|
| Ak5 |
G |
T |
3: 152,239,071 (GRCm39) |
D301E |
probably damaging |
Het |
| Arpc1a |
G |
T |
5: 145,034,082 (GRCm39) |
W150L |
probably damaging |
Het |
| Filip1l |
A |
G |
16: 57,391,350 (GRCm39) |
D646G |
probably damaging |
Het |
| Fpr-rs6 |
T |
C |
17: 20,403,011 (GRCm39) |
T117A |
probably benign |
Het |
| Fry |
A |
T |
5: 150,419,283 (GRCm39) |
E905V |
probably damaging |
Het |
| Furin |
C |
T |
7: 80,041,932 (GRCm39) |
|
probably benign |
Het |
| Glyr1 |
T |
C |
16: 4,839,203 (GRCm39) |
D338G |
probably damaging |
Het |
| Gpd2 |
A |
T |
2: 57,247,683 (GRCm39) |
K542M |
probably damaging |
Het |
| Itpr3 |
T |
C |
17: 27,330,535 (GRCm39) |
F1679L |
probably benign |
Het |
| Kif23 |
A |
G |
9: 61,834,438 (GRCm39) |
M427T |
probably damaging |
Het |
| Kpna1 |
T |
A |
16: 35,829,696 (GRCm39) |
I83N |
probably benign |
Het |
| Man2a1 |
T |
C |
17: 65,019,445 (GRCm39) |
F770L |
probably damaging |
Het |
| Mrpl44 |
T |
A |
1: 79,755,669 (GRCm39) |
F92I |
probably damaging |
Het |
| Myh4 |
A |
G |
11: 67,135,567 (GRCm39) |
|
probably benign |
Het |
| Or2a56 |
A |
C |
6: 42,932,639 (GRCm39) |
D69A |
probably damaging |
Het |
| Or5b105 |
T |
C |
19: 13,080,054 (GRCm39) |
I199V |
probably benign |
Het |
| Rbm15 |
G |
T |
3: 107,239,946 (GRCm39) |
R151S |
possibly damaging |
Het |
| Rims3 |
G |
A |
4: 120,740,322 (GRCm39) |
G90S |
probably damaging |
Het |
| Rock2 |
G |
A |
12: 17,027,625 (GRCm39) |
C1314Y |
possibly damaging |
Het |
| Serpinb6e |
C |
T |
13: 34,025,180 (GRCm39) |
C37Y |
possibly damaging |
Het |
| Spata31d1c |
C |
T |
13: 65,183,202 (GRCm39) |
T248I |
probably benign |
Het |
| Tbx15 |
C |
A |
3: 99,259,427 (GRCm39) |
Q433K |
possibly damaging |
Het |
| Vmn1r11 |
G |
A |
6: 57,114,963 (GRCm39) |
C209Y |
probably benign |
Het |
| Zfhx3 |
T |
C |
8: 109,527,330 (GRCm39) |
|
probably benign |
Het |
| Zim1 |
C |
A |
7: 6,680,430 (GRCm39) |
C411F |
probably damaging |
Het |
|
| Other mutations in Foxa1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00696:Foxa1
|
APN |
12 |
57,589,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02371:Foxa1
|
APN |
12 |
57,589,486 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03150:Foxa1
|
APN |
12 |
57,589,082 (GRCm39) |
missense |
probably benign |
0.41 |
|
PIT4377001:Foxa1
|
UTSW |
12 |
57,589,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1347:Foxa1
|
UTSW |
12 |
57,589,070 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1494:Foxa1
|
UTSW |
12 |
57,588,984 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1598:Foxa1
|
UTSW |
12 |
57,589,473 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1809:Foxa1
|
UTSW |
12 |
57,589,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5554:Foxa1
|
UTSW |
12 |
57,589,077 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5667:Foxa1
|
UTSW |
12 |
57,589,081 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5782:Foxa1
|
UTSW |
12 |
57,589,302 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6174:Foxa1
|
UTSW |
12 |
57,589,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6750:Foxa1
|
UTSW |
12 |
57,589,396 (GRCm39) |
missense |
probably benign |
0.32 |
|
R6781:Foxa1
|
UTSW |
12 |
57,590,043 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R6995:Foxa1
|
UTSW |
12 |
57,589,264 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7209:Foxa1
|
UTSW |
12 |
57,590,077 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7864:Foxa1
|
UTSW |
12 |
57,589,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8257:Foxa1
|
UTSW |
12 |
57,589,932 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8464:Foxa1
|
UTSW |
12 |
57,589,246 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0020:Foxa1
|
UTSW |
12 |
57,590,098 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
Z1177:Foxa1
|
UTSW |
12 |
57,589,203 (GRCm39) |
missense |
probably benign |
0.09 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGACAAAACCCTCAGTTCTGGGAG -3'
(R):5'- ACATGTTCGAGAACGGCTGCTAC -3'
Sequencing Primer
(F):5'- ATACACACCTTGGTAGTAGGCTG -3'
(R):5'- TAGCCAGCTAGAgggcg -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation