Incidental Mutation 'R6751:Tfap2a'
| ID |
530799 |
| 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 |
044868-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6751 (G1)
|
| Quality Score |
164.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
40868778-40891852 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 40882230 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 25
(N25I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153522
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021787]
[ENSMUST00000110193]
[ENSMUST00000223869]
[ENSMUST00000224665]
[ENSMUST00000224999]
[ENSMUST00000225180]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021787
AA Change: N17I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000021787
Gene: ENSMUSG00000021359
AA Change: N17I
| 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 |
probably damaging
Transcript: ENSMUST00000110193
AA Change: N23I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105822
Gene: ENSMUSG00000021359
AA Change: N23I
| 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 |
noncoding transcript
Transcript: ENSMUST00000181176
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223869
AA Change: N19I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223908
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224038
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224319
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224665
AA Change: N25I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224999
AA Change: N25I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225180
AA Change: N52I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224700
|
| Meta Mutation Damage Score |
0.1815 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.7%
|
| Validation Efficiency |
95% (59/62) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
T |
3: 137,771,971 (GRCm39) |
N387Y |
probably damaging |
Het |
| Abhd17a |
T |
C |
10: 80,422,421 (GRCm39) |
E87G |
probably damaging |
Het |
| Aco1 |
T |
A |
4: 40,188,330 (GRCm39) |
|
probably null |
Het |
| Adcy6 |
T |
C |
15: 98,494,086 (GRCm39) |
N817S |
probably benign |
Het |
| Ak8 |
T |
A |
2: 28,599,957 (GRCm39) |
L63* |
probably null |
Het |
| Arhgef28 |
G |
A |
13: 98,211,755 (GRCm39) |
S76L |
probably damaging |
Het |
| Asap1 |
A |
G |
15: 63,966,261 (GRCm39) |
L891S |
possibly damaging |
Het |
| Cacng5 |
C |
A |
11: 107,768,379 (GRCm39) |
M209I |
probably benign |
Het |
| Casr |
T |
C |
16: 36,335,950 (GRCm39) |
I120V |
probably benign |
Het |
| Ccnq |
T |
C |
11: 78,641,950 (GRCm39) |
Y180C |
probably damaging |
Het |
| Chd7 |
T |
C |
4: 8,833,866 (GRCm39) |
Y1207H |
probably damaging |
Het |
| Chrnb2 |
A |
T |
3: 89,668,883 (GRCm39) |
F144Y |
probably damaging |
Het |
| Cyp4a14 |
T |
A |
4: 115,348,391 (GRCm39) |
H362L |
probably damaging |
Het |
| Dnaaf4 |
A |
G |
9: 72,869,257 (GRCm39) |
T156A |
probably benign |
Het |
| Dym |
G |
A |
18: 75,419,718 (GRCm39) |
V630M |
probably damaging |
Het |
| Dync2i1 |
A |
T |
12: 116,177,076 (GRCm39) |
V842E |
possibly damaging |
Het |
| Dyrk1b |
C |
A |
7: 27,886,134 (GRCm39) |
P619Q |
probably damaging |
Het |
| Eml5 |
T |
C |
12: 98,831,659 (GRCm39) |
D433G |
probably damaging |
Het |
| Frem2 |
A |
T |
3: 53,561,086 (GRCm39) |
S1140R |
probably damaging |
Het |
| Gabra5 |
T |
C |
7: 57,068,082 (GRCm39) |
R255G |
probably damaging |
Het |
| Galnt17 |
T |
A |
5: 131,110,428 (GRCm39) |
I304F |
probably damaging |
Het |
| Gpc5 |
A |
G |
14: 115,607,363 (GRCm39) |
S322G |
probably benign |
Het |
| Herc1 |
TCCC |
TCC |
9: 66,408,470 (GRCm39) |
|
probably null |
Het |
| Hmcn1 |
T |
A |
1: 150,610,269 (GRCm39) |
N1467Y |
probably damaging |
Het |
| Ifna6 |
T |
C |
4: 88,745,987 (GRCm39) |
L112P |
probably damaging |
Het |
| Ifrd1 |
C |
T |
12: 40,253,913 (GRCm39) |
|
probably null |
Het |
| Il17f |
A |
G |
1: 20,849,713 (GRCm39) |
M17T |
probably benign |
Het |
| Itga11 |
G |
A |
9: 62,675,866 (GRCm39) |
V892I |
probably benign |
Het |
| Nckap5l |
A |
G |
15: 99,321,042 (GRCm39) |
L1246P |
probably damaging |
Het |
| Nlrp4f |
A |
T |
13: 65,342,243 (GRCm39) |
H467Q |
probably damaging |
Het |
| Ntng2 |
A |
G |
2: 29,118,055 (GRCm39) |
V131A |
possibly damaging |
Het |
| Or51r1 |
G |
A |
7: 102,227,706 (GRCm39) |
M1I |
probably null |
Het |
| Or8b40 |
T |
G |
9: 38,027,271 (GRCm39) |
Y60D |
probably damaging |
Het |
| Or8g37 |
T |
A |
9: 39,731,193 (GRCm39) |
V86E |
probably benign |
Het |
| Or8g55 |
T |
C |
9: 39,784,976 (GRCm39) |
V135A |
probably benign |
Het |
| Osbpl8 |
T |
C |
10: 111,110,874 (GRCm39) |
Y459H |
possibly damaging |
Het |
| Pabpc1 |
A |
T |
15: 36,597,778 (GRCm39) |
V537D |
possibly damaging |
Het |
| Pde4b |
A |
T |
4: 102,459,868 (GRCm39) |
M583L |
probably damaging |
Het |
| Phlda1 |
T |
C |
10: 111,342,555 (GRCm39) |
V97A |
possibly damaging |
Het |
| Pik3cb |
G |
T |
9: 98,976,574 (GRCm39) |
H174Q |
probably benign |
Het |
| Plxdc2 |
A |
T |
2: 16,552,952 (GRCm39) |
I117F |
probably benign |
Het |
| Psapl1 |
C |
A |
5: 36,362,303 (GRCm39) |
C298* |
probably null |
Het |
| Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Homo |
| Rtkn2 |
T |
A |
10: 67,877,283 (GRCm39) |
F448I |
probably benign |
Het |
| Scn10a |
T |
C |
9: 119,500,617 (GRCm39) |
R221G |
probably damaging |
Het |
| Serpina3c |
A |
G |
12: 104,117,759 (GRCm39) |
L193P |
probably damaging |
Het |
| Sox12 |
T |
C |
2: 152,238,678 (GRCm39) |
Y314C |
probably damaging |
Het |
| Spata31h1 |
A |
G |
10: 82,119,331 (GRCm39) |
S4560P |
probably benign |
Het |
| Sptbn1 |
T |
C |
11: 30,067,859 (GRCm39) |
E1772G |
probably damaging |
Het |
| Supt6 |
A |
G |
11: 78,099,775 (GRCm39) |
V1570A |
probably benign |
Het |
| Synrg |
T |
C |
11: 83,872,251 (GRCm39) |
F125S |
probably damaging |
Het |
| Tenm4 |
A |
T |
7: 96,494,919 (GRCm39) |
I1116F |
possibly damaging |
Het |
| Tfap2d |
C |
A |
1: 19,173,507 (GRCm39) |
H10N |
possibly damaging |
Het |
| Trpm8 |
T |
C |
1: 88,312,428 (GRCm39) |
I1103T |
possibly damaging |
Het |
| Vmn1r158 |
C |
T |
7: 22,489,306 (GRCm39) |
C301Y |
probably damaging |
Het |
| Vmn2r56 |
T |
C |
7: 12,428,719 (GRCm39) |
I516V |
probably benign |
Het |
| Vmn2r71 |
G |
A |
7: 85,269,095 (GRCm39) |
|
probably null |
Het |
| Vnn3 |
C |
T |
10: 23,745,523 (GRCm39) |
R491C |
probably benign |
Het |
| Vps50 |
A |
G |
6: 3,600,274 (GRCm39) |
Y911C |
probably damaging |
Het |
| Zfp772 |
C |
T |
7: 7,206,716 (GRCm39) |
R325Q |
possibly damaging |
Het |
| Zranb3 |
T |
A |
1: 127,887,556 (GRCm39) |
H957L |
probably benign |
Het |
| Zscan20 |
G |
T |
4: 128,479,668 (GRCm39) |
T941K |
probably damaging |
Het |
| Zscan25 |
T |
A |
5: 145,227,373 (GRCm39) |
F346I |
probably damaging |
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 |
|
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 |
|
R8423:Tfap2a
|
UTSW |
13 |
40,872,706 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
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'- GTGTGTAAGAGCCCAGATTCCTG -3'
(R):5'- AGGCCTGCTTCACTTCTTGG -3'
Sequencing Primer
(F):5'- CGTGCAGAGGATTCAGGCTG -3'
(R):5'- CTTGGGTGTTTTCCAATATGAACAG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation