Incidental Mutation 'R4334:Foxa2'
| ID |
323681 |
| 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 |
041664-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4334 (G1)
|
| Quality Score |
179 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
147884797-147888889 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 147886623 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 64
(N64S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045918
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047315]
[ENSMUST00000109964]
[ENSMUST00000172928]
|
| AlphaFold |
P35583 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047315
AA Change: N64S
PolyPhen 2
Score 0.850 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000045918
Gene: ENSMUSG00000037025
AA Change: N64S
| 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 |
possibly damaging
Transcript: ENSMUST00000109964
AA Change: N70S
PolyPhen 2
Score 0.635 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000105590
Gene: ENSMUSG00000037025
AA Change: N70S
| 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
|
| SMART Domains |
Protein: ENSMUSP00000134081
Gene: ENSMUSG00000037025
| 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: 97.5%
- 20x: 95.8%
|
| 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 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
A |
T |
17: 24,537,242 (GRCm39) |
V447E |
probably damaging |
Het |
| Adcyap1 |
T |
C |
17: 93,509,696 (GRCm39) |
L49P |
probably benign |
Het |
| B4galt4 |
T |
C |
16: 38,572,621 (GRCm39) |
I102T |
probably damaging |
Het |
| Cc2d2a |
A |
G |
5: 43,840,476 (GRCm39) |
D110G |
probably benign |
Het |
| Ccdc141 |
C |
T |
2: 77,000,776 (GRCm39) |
V19I |
probably damaging |
Het |
| Ccdc39 |
A |
G |
3: 33,892,031 (GRCm39) |
L147P |
probably damaging |
Het |
| Cdc5l |
A |
T |
17: 45,721,712 (GRCm39) |
D519E |
probably benign |
Het |
| Cdh23 |
G |
T |
10: 60,220,838 (GRCm39) |
T1305K |
probably damaging |
Het |
| Cfi |
T |
A |
3: 129,644,478 (GRCm39) |
V158D |
possibly damaging |
Het |
| Clstn2 |
T |
G |
9: 97,345,581 (GRCm39) |
Y589S |
probably damaging |
Het |
| Dsp |
A |
G |
13: 38,380,640 (GRCm39) |
K1863E |
possibly damaging |
Het |
| Enpp3 |
A |
T |
10: 24,669,487 (GRCm39) |
M491K |
probably damaging |
Het |
| Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
| Fkbp15 |
G |
A |
4: 62,221,456 (GRCm39) |
A1170V |
possibly damaging |
Het |
| Foxm1 |
T |
C |
6: 128,342,930 (GRCm39) |
I88T |
probably damaging |
Het |
| Gm3173 |
A |
T |
14: 15,728,364 (GRCm39) |
I8L |
possibly damaging |
Het |
| Gpatch3 |
A |
G |
4: 133,309,792 (GRCm39) |
D375G |
probably damaging |
Het |
| Herc2 |
T |
C |
7: 55,876,402 (GRCm39) |
F4436L |
probably damaging |
Het |
| Htr3b |
G |
A |
9: 48,856,809 (GRCm39) |
A223V |
probably damaging |
Het |
| Iars2 |
T |
A |
1: 185,035,591 (GRCm39) |
T550S |
probably benign |
Het |
| Igsf9 |
A |
T |
1: 172,321,779 (GRCm39) |
K149* |
probably null |
Het |
| Khnyn |
A |
G |
14: 56,131,499 (GRCm39) |
D536G |
probably damaging |
Het |
| Kng1 |
T |
C |
16: 22,898,370 (GRCm39) |
V409A |
possibly damaging |
Het |
| Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
| Madd |
C |
T |
2: 90,970,917 (GRCm39) |
V1508I |
probably benign |
Het |
| Micall2 |
T |
C |
5: 139,699,105 (GRCm39) |
E527G |
probably damaging |
Het |
| Myo7b |
A |
G |
18: 32,110,040 (GRCm39) |
S1141P |
probably damaging |
Het |
| Ncoa2 |
G |
A |
1: 13,245,187 (GRCm39) |
P504S |
possibly damaging |
Het |
| Notch1 |
G |
A |
2: 26,350,048 (GRCm39) |
T2364I |
probably benign |
Het |
| Pde4c |
T |
A |
8: 71,202,475 (GRCm39) |
|
probably null |
Het |
| Pik3cb |
A |
G |
9: 98,943,904 (GRCm39) |
L633P |
probably damaging |
Het |
| Ranbp2 |
T |
A |
10: 58,299,816 (GRCm39) |
D483E |
probably damaging |
Het |
| Sh3tc2 |
A |
G |
18: 62,123,392 (GRCm39) |
N718D |
probably damaging |
Het |
| Spast |
G |
A |
17: 74,659,010 (GRCm39) |
A126T |
probably damaging |
Het |
| Ssc5d |
T |
C |
7: 4,946,663 (GRCm39) |
S1006P |
probably benign |
Het |
| Tmprss6 |
T |
A |
15: 78,343,627 (GRCm39) |
|
probably null |
Het |
| Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
| Unc79 |
C |
T |
12: 103,045,233 (GRCm39) |
T803M |
probably benign |
Het |
| Vmn2r118 |
A |
T |
17: 55,917,347 (GRCm39) |
F388L |
possibly damaging |
Het |
| Vmn2r71 |
T |
C |
7: 85,269,042 (GRCm39) |
V415A |
probably benign |
Het |
| Wdr4 |
A |
T |
17: 31,718,126 (GRCm39) |
F316Y |
possibly damaging |
Het |
| Zfp810 |
T |
C |
9: 22,190,080 (GRCm39) |
Y276C |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCATCGAGTTCATGTTGGCG -3'
(R):5'- AGATTCCAGAGGCTTGCACG -3'
Sequencing Primer
(F):5'- ATCGAGTTCATGTTGGCGTAGGG -3'
(R):5'- ATTCCAGAGGCTTGCACGAATTG -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation