Incidental Mutation 'R8423:Tfap2a'
| ID |
653318 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tfap2a
|
| Ensembl Gene |
ENSMUSG00000021359 |
| Gene Name |
transcription factor AP-2, alpha |
| Synonyms |
Ap2tf, Ap2, Tcfap2a, Ap-2 (a), AP-2 alpha, AP2alpha |
| MMRRC Submission |
067899-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8423 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
40868778-40891852 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 40872706 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 323
(N323K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021787
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021787]
[ENSMUST00000110193]
[ENSMUST00000223869]
[ENSMUST00000224665]
[ENSMUST00000224999]
[ENSMUST00000225180]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021787
AA Change: N323K
PolyPhen 2
Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000021787
Gene: ENSMUSG00000021359
AA Change: N323K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
46 |
68 |
N/A |
INTRINSIC |
|
low complexity region
|
82 |
95 |
N/A |
INTRINSIC |
|
low complexity region
|
126 |
142 |
N/A |
INTRINSIC |
|
Pfam:TF_AP-2
|
201 |
408 |
1.6e-103 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110193
AA Change: N329K
PolyPhen 2
Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000105822
Gene: ENSMUSG00000021359
AA Change: N329K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
52 |
74 |
N/A |
INTRINSIC |
|
low complexity region
|
88 |
101 |
N/A |
INTRINSIC |
|
low complexity region
|
132 |
148 |
N/A |
INTRINSIC |
|
Pfam:TF_AP-2
|
209 |
409 |
7.8e-94 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000223869
AA Change: N325K
PolyPhen 2
Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224665
AA Change: N331K
PolyPhen 2
Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224999
AA Change: N331K
PolyPhen 2
Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225180
AA Change: N358K
PolyPhen 2
Score 0.362 (Sensitivity: 0.90; Specificity: 0.89)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
98% (46/47) |
| MGI Phenotype |
FUNCTION: This gene is a member of the activator protein 2 (AP-2) transcription factor family. The protein encoded by this gene can act as both an activator and repressor of gene transcription, and plays an important role in early embryogenesis, specifically in cranial development. This protein forms both homodimers and heterodimers, and binds to a GC-rich consensus sequence found in some promoters and enhancers. Disruption of this gene causes perinatal death, with neural tube, craniofacial, and limb mesenchyme defects. Alternative splicing results in multiple transcript variants that encode multiple protein isoforms. [provided by RefSeq, Sep 2014]
PHENOTYPE: Homozygous null mutants die perinatally with anencephaly, craniofacial and neural tube defects, thoraco-abdominoschisis and defects in sensory organs, cranial ganglia, skeleton, and heart. On some genetic backgrounds, heterozygotes may exhibit exencephaly. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6b |
A |
G |
12: 113,454,530 (GRCm39) |
D449G |
possibly damaging |
Het |
| Ampd1 |
T |
C |
3: 102,988,305 (GRCm39) |
S83P |
probably benign |
Het |
| Bub1 |
G |
A |
2: 127,649,750 (GRCm39) |
L703F |
probably benign |
Het |
| C1rb |
T |
A |
6: 124,551,617 (GRCm39) |
D242E |
probably damaging |
Het |
| Carf |
T |
A |
1: 60,189,752 (GRCm39) |
L659Q |
possibly damaging |
Het |
| Carmil3 |
A |
G |
14: 55,736,522 (GRCm39) |
N662S |
probably damaging |
Het |
| Ccno |
A |
G |
13: 113,124,678 (GRCm39) |
S83G |
possibly damaging |
Het |
| Chd3 |
A |
T |
11: 69,245,252 (GRCm39) |
Y1155* |
probably null |
Het |
| Clec16a |
A |
G |
16: 10,394,527 (GRCm39) |
E295G |
probably benign |
Het |
| Clnk |
A |
G |
5: 38,952,253 (GRCm39) |
|
probably null |
Het |
| Clvs2 |
T |
C |
10: 33,498,855 (GRCm39) |
D25G |
possibly damaging |
Het |
| Cnr2 |
C |
T |
4: 135,644,827 (GRCm39) |
R302W |
probably damaging |
Het |
| Col20a1 |
A |
G |
2: 180,640,498 (GRCm39) |
T594A |
probably damaging |
Het |
| Dclk3 |
C |
T |
9: 111,297,787 (GRCm39) |
R444W |
possibly damaging |
Het |
| Dmxl1 |
T |
C |
18: 49,998,183 (GRCm39) |
V761A |
probably damaging |
Het |
| Dnah7a |
C |
A |
1: 53,512,063 (GRCm39) |
K2999N |
possibly damaging |
Het |
| Dusp28 |
T |
C |
1: 92,834,906 (GRCm39) |
S44P |
probably damaging |
Het |
| Enpep |
T |
G |
3: 129,102,774 (GRCm39) |
N394T |
probably damaging |
Het |
| Fam135a |
A |
T |
1: 24,060,998 (GRCm39) |
F1343I |
probably damaging |
Het |
| Fbxl12 |
C |
A |
9: 20,550,160 (GRCm39) |
R165L |
possibly damaging |
Het |
| Fbxo40 |
A |
T |
16: 36,790,947 (GRCm39) |
H54Q |
probably damaging |
Het |
| Galnt9 |
A |
G |
5: 110,744,111 (GRCm39) |
D315G |
probably benign |
Het |
| Gbp4 |
T |
A |
5: 105,267,800 (GRCm39) |
D482V |
probably damaging |
Het |
| Gm17175 |
T |
A |
14: 51,809,070 (GRCm39) |
I99F |
possibly damaging |
Het |
| Heatr4 |
A |
G |
12: 84,027,104 (GRCm39) |
F51S |
probably benign |
Het |
| Herc1 |
T |
C |
9: 66,415,442 (GRCm39) |
S4806P |
probably damaging |
Het |
| Hoxc11 |
G |
A |
15: 102,863,177 (GRCm39) |
V73I |
possibly damaging |
Het |
| Knl1 |
T |
G |
2: 118,900,513 (GRCm39) |
I738S |
probably damaging |
Het |
| Lcor |
T |
C |
19: 41,573,888 (GRCm39) |
I881T |
possibly damaging |
Het |
| Lipt2 |
T |
C |
7: 99,809,450 (GRCm39) |
F179S |
probably damaging |
Het |
| Lrrc8b |
G |
A |
5: 105,628,622 (GRCm39) |
V323M |
probably damaging |
Het |
| Ltbp1 |
T |
C |
17: 75,599,852 (GRCm39) |
S665P |
probably benign |
Het |
| Miga1 |
A |
T |
3: 152,028,045 (GRCm39) |
D161E |
probably benign |
Het |
| Mynn |
A |
G |
3: 30,657,933 (GRCm39) |
T84A |
probably benign |
Het |
| Or13c7d |
T |
C |
4: 43,770,598 (GRCm39) |
S138G |
possibly damaging |
Het |
| Or3a1b |
T |
C |
11: 74,012,492 (GRCm39) |
F126L |
probably benign |
Het |
| Or4a75 |
A |
T |
2: 89,448,331 (GRCm39) |
D68E |
probably damaging |
Het |
| Pik3r3 |
C |
T |
4: 116,079,572 (GRCm39) |
S23L |
probably benign |
Het |
| Plat |
G |
T |
8: 23,262,248 (GRCm39) |
G91W |
probably damaging |
Het |
| Plscr4 |
C |
T |
9: 92,372,843 (GRCm39) |
R322* |
probably null |
Het |
| Ralgapa1 |
A |
G |
12: 55,705,847 (GRCm39) |
S1892P |
probably damaging |
Het |
| Slc6a18 |
T |
A |
13: 73,813,693 (GRCm39) |
Q540L |
probably benign |
Het |
| Tgm1 |
A |
T |
14: 55,943,100 (GRCm39) |
M580K |
probably benign |
Het |
| Tnrc6b |
G |
A |
15: 80,813,619 (GRCm39) |
G1792D |
unknown |
Het |
| Trim66 |
T |
A |
7: 109,074,599 (GRCm39) |
Q554L |
possibly damaging |
Het |
| Ttc28 |
G |
A |
5: 111,381,207 (GRCm39) |
D1240N |
probably benign |
Het |
| Vmn1r238 |
G |
T |
18: 3,123,365 (GRCm39) |
C16* |
probably null |
Het |
| Vmn1r6 |
G |
A |
6: 56,979,495 (GRCm39) |
M52I |
probably benign |
Het |
| Zfp61 |
A |
G |
7: 23,991,459 (GRCm39) |
F231L |
probably benign |
Het |
|
| Other mutations in Tfap2a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
PIT4366001:Tfap2a
|
UTSW |
13 |
40,874,850 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0124:Tfap2a
|
UTSW |
13 |
40,870,887 (GRCm39) |
splice site |
probably benign |
|
|
R0400:Tfap2a
|
UTSW |
13 |
40,870,888 (GRCm39) |
splice site |
probably benign |
|
|
R0486:Tfap2a
|
UTSW |
13 |
40,882,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1132:Tfap2a
|
UTSW |
13 |
40,874,867 (GRCm39) |
splice site |
probably null |
|
|
R1418:Tfap2a
|
UTSW |
13 |
40,870,680 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1751:Tfap2a
|
UTSW |
13 |
40,878,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1767:Tfap2a
|
UTSW |
13 |
40,878,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1802:Tfap2a
|
UTSW |
13 |
40,878,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1865:Tfap2a
|
UTSW |
13 |
40,881,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4913:Tfap2a
|
UTSW |
13 |
40,870,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5764:Tfap2a
|
UTSW |
13 |
40,881,831 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R6378:Tfap2a
|
UTSW |
13 |
40,876,717 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R6496:Tfap2a
|
UTSW |
13 |
40,882,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6751:Tfap2a
|
UTSW |
13 |
40,882,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6773:Tfap2a
|
UTSW |
13 |
40,882,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6774:Tfap2a
|
UTSW |
13 |
40,882,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6786:Tfap2a
|
UTSW |
13 |
40,882,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7027:Tfap2a
|
UTSW |
13 |
40,887,150 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7140:Tfap2a
|
UTSW |
13 |
40,883,523 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7268:Tfap2a
|
UTSW |
13 |
40,882,236 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7299:Tfap2a
|
UTSW |
13 |
40,874,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7301:Tfap2a
|
UTSW |
13 |
40,874,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7689:Tfap2a
|
UTSW |
13 |
40,882,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7761:Tfap2a
|
UTSW |
13 |
40,878,656 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8005:Tfap2a
|
UTSW |
13 |
40,872,684 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R8170:Tfap2a
|
UTSW |
13 |
40,872,744 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8550:Tfap2a
|
UTSW |
13 |
40,882,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8809:Tfap2a
|
UTSW |
13 |
40,870,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8929:Tfap2a
|
UTSW |
13 |
40,882,308 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9213:Tfap2a
|
UTSW |
13 |
40,870,875 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9790:Tfap2a
|
UTSW |
13 |
40,870,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9791:Tfap2a
|
UTSW |
13 |
40,870,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACAATCCCACTCTGGTTCC -3'
(R):5'- GGAGGGGAAACTTTGATCCC -3'
Sequencing Primer
(F):5'- TTTGTGACACAGACTGCGC -3'
(R):5'- GGAAACTTTGATCCCAAGTCCGTG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation