Incidental Mutation 'R5293:Foxa2'
| ID |
405237 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Foxa2
|
| Ensembl Gene |
ENSMUSG00000037025 |
| Gene Name |
forkhead box A2 |
| Synonyms |
Tcf-3b, HNF3beta, HNF3-beta, Tcf3b, Hnf-3b, Hnf3b |
| MMRRC Submission |
042876-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5293 (G1)
|
| Quality Score |
209 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
147884797-147888889 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 147885922 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 123
(T123A)
|
| 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: T298A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000045918
Gene: ENSMUSG00000037025
AA Change: T298A
| 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: T304A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000105590
Gene: ENSMUSG00000037025
AA Change: T304A
| 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: T123A
PolyPhen 2
Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000134081
Gene: ENSMUSG00000037025
AA Change: T123A
| 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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam5 |
A |
G |
8: 25,300,722 (GRCm39) |
V269A |
possibly damaging |
Het |
| Akap9 |
C |
T |
5: 3,998,687 (GRCm39) |
R19W |
probably damaging |
Het |
| Akr7a5 |
G |
T |
4: 139,041,517 (GRCm39) |
R142L |
probably benign |
Het |
| Atp6v0a2 |
A |
T |
5: 124,784,649 (GRCm39) |
M311L |
probably benign |
Het |
| Atxn1 |
C |
T |
13: 45,721,844 (GRCm39) |
R17H |
probably damaging |
Het |
| Ccdc116 |
A |
T |
16: 16,959,651 (GRCm39) |
L346Q |
possibly damaging |
Het |
| Copg2 |
T |
A |
6: 30,803,162 (GRCm39) |
N261I |
probably damaging |
Het |
| Crtc2 |
A |
G |
3: 90,170,871 (GRCm39) |
E648G |
probably benign |
Het |
| Dnah10 |
A |
C |
5: 124,868,851 (GRCm39) |
K2334Q |
probably benign |
Het |
| Galnt6 |
A |
G |
15: 100,601,382 (GRCm39) |
V299A |
probably benign |
Het |
| Grip1 |
T |
C |
10: 119,733,640 (GRCm39) |
S26P |
probably damaging |
Het |
| Jkamp |
A |
G |
12: 72,136,883 (GRCm39) |
S84G |
probably benign |
Het |
| Kcnc1 |
A |
G |
7: 46,047,235 (GRCm39) |
H45R |
probably benign |
Het |
| Knl1 |
T |
C |
2: 118,900,176 (GRCm39) |
Y626H |
probably damaging |
Het |
| Mmp19 |
T |
A |
10: 128,626,970 (GRCm39) |
V16D |
probably damaging |
Het |
| Mrpl38 |
T |
C |
11: 116,023,599 (GRCm39) |
N280S |
probably benign |
Het |
| Myl7 |
T |
A |
11: 5,848,521 (GRCm39) |
|
probably benign |
Het |
| Ngef |
CCCTCCTCCTCCTCCTCCTCCTCCTC |
CCCTCCTCCTCCTCCTCCTCCTC |
1: 87,431,151 (GRCm39) |
|
probably benign |
Het |
| Nlrp2 |
A |
C |
7: 5,330,614 (GRCm39) |
L594R |
probably damaging |
Het |
| Or2y3 |
T |
A |
17: 38,393,131 (GRCm39) |
H246L |
probably damaging |
Het |
| Or4f15 |
T |
G |
2: 111,813,611 (GRCm39) |
K269N |
probably damaging |
Het |
| Or52n2c |
T |
C |
7: 104,574,486 (GRCm39) |
T162A |
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,579,300 (GRCm39) |
E1802G |
possibly damaging |
Het |
| Pkhd1l1 |
T |
C |
15: 44,399,146 (GRCm39) |
V2070A |
probably benign |
Het |
| Plcxd2 |
G |
T |
16: 45,800,706 (GRCm39) |
H173N |
probably damaging |
Het |
| Plec |
C |
G |
15: 76,083,783 (GRCm39) |
W26C |
probably benign |
Het |
| Psmc1 |
C |
T |
12: 100,081,731 (GRCm39) |
T111I |
probably benign |
Het |
| Rbfa |
T |
C |
18: 80,235,981 (GRCm39) |
E256G |
probably benign |
Het |
| Sh3d21 |
T |
A |
4: 126,046,050 (GRCm39) |
T173S |
probably benign |
Het |
| Slc41a3 |
T |
A |
6: 90,603,426 (GRCm39) |
V149E |
probably damaging |
Het |
| Sntg1 |
A |
G |
1: 8,665,757 (GRCm39) |
S186P |
probably damaging |
Het |
| Spag4 |
A |
G |
2: 155,908,111 (GRCm39) |
D29G |
probably benign |
Het |
| Spc25 |
A |
G |
2: 69,032,996 (GRCm39) |
V43A |
possibly damaging |
Het |
| Spen |
G |
A |
4: 141,199,717 (GRCm39) |
A2947V |
possibly damaging |
Het |
| Spta1 |
T |
C |
1: 174,023,551 (GRCm39) |
S653P |
probably damaging |
Het |
| Ssrp1 |
T |
A |
2: 84,872,596 (GRCm39) |
Y411* |
probably null |
Het |
| Synrg |
C |
T |
11: 83,872,325 (GRCm39) |
L149F |
probably damaging |
Het |
| Trappc11 |
G |
A |
8: 47,946,377 (GRCm39) |
A1085V |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,571,276 (GRCm39) |
E18212G |
probably damaging |
Het |
| Wnk4 |
T |
G |
11: 101,166,023 (GRCm39) |
|
probably benign |
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 |
|
IGL02560:Foxa2
|
APN |
2 |
147,885,951 (GRCm39) |
missense |
probably benign |
0.40 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAAGGCGTAATGGTGCTC -3'
(R):5'- GCAACATGTTCGAGAACGGC -3'
Sequencing Primer
(F):5'- AATGGTGCTCGGGCTTCAG -3'
(R):5'- ATGTTCGAGAACGGCTGCTAC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation