Incidental Mutation 'R8005:Tfap2a'
| ID |
616591 |
| 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 |
046045-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8005 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
40868778-40891852 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 40872684 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 331
(M331L)
|
| 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: M331L
PolyPhen 2
Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000021787
Gene: ENSMUSG00000021359
AA Change: M331L
| 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 benign
Transcript: ENSMUST00000110193
AA Change: M337L
PolyPhen 2
Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000105822
Gene: ENSMUSG00000021359
AA Change: M337L
| 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: M333L
PolyPhen 2
Score 0.551 (Sensitivity: 0.88; Specificity: 0.91)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224665
AA Change: M339L
PolyPhen 2
Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224999
AA Change: M339L
PolyPhen 2
Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225180
AA Change: M366L
PolyPhen 2
Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot1 |
A |
G |
12: 84,063,774 (GRCm39) |
D294G |
probably benign |
Het |
| Ak8 |
A |
T |
2: 28,602,314 (GRCm39) |
S83C |
probably benign |
Het |
| Ankrd34b |
C |
A |
13: 92,575,230 (GRCm39) |
A154E |
possibly damaging |
Het |
| Anks1 |
A |
G |
17: 28,278,341 (GRCm39) |
D1175G |
probably damaging |
Het |
| Ano4 |
T |
A |
10: 88,807,183 (GRCm39) |
L799F |
probably benign |
Het |
| Aplp1 |
T |
C |
7: 30,135,470 (GRCm39) |
|
probably null |
Het |
| Apob |
A |
T |
12: 8,059,744 (GRCm39) |
H2742L |
probably benign |
Het |
| Apol7e |
C |
T |
15: 77,602,277 (GRCm39) |
Q292* |
probably null |
Het |
| Atp2b1 |
G |
A |
10: 98,830,661 (GRCm39) |
G374D |
probably damaging |
Het |
| B4galt5 |
A |
G |
2: 167,143,384 (GRCm39) |
S347P |
probably damaging |
Het |
| Bcl11b |
T |
C |
12: 107,882,456 (GRCm39) |
T620A |
probably benign |
Het |
| Bco2 |
T |
A |
9: 50,450,213 (GRCm39) |
D329V |
probably damaging |
Het |
| Cd200l2 |
T |
C |
16: 45,352,400 (GRCm39) |
|
probably benign |
Het |
| Cemip |
C |
A |
7: 83,652,616 (GRCm39) |
|
probably benign |
Het |
| Copg2 |
T |
A |
6: 30,873,632 (GRCm39) |
M1L |
possibly damaging |
Het |
| D430041D05Rik |
G |
A |
2: 104,088,599 (GRCm39) |
H164Y |
possibly damaging |
Het |
| Dscaml1 |
G |
T |
9: 45,628,808 (GRCm39) |
G1121C |
probably damaging |
Het |
| Gas2l1 |
A |
T |
11: 5,011,552 (GRCm39) |
S426T |
probably benign |
Het |
| Gm9195 |
T |
A |
14: 72,663,840 (GRCm39) |
I2740F |
probably benign |
Het |
| Irgm1 |
A |
G |
11: 48,757,217 (GRCm39) |
I214T |
probably damaging |
Het |
| Kbtbd3 |
C |
T |
9: 4,330,655 (GRCm39) |
T343I |
probably damaging |
Het |
| Ldlrad1 |
G |
A |
4: 107,066,688 (GRCm39) |
A8T |
probably benign |
Het |
| Ly75 |
A |
T |
2: 60,163,278 (GRCm39) |
Y804N |
probably damaging |
Het |
| Mgat2 |
A |
G |
12: 69,232,722 (GRCm39) |
H432R |
probably damaging |
Het |
| Nsrp1 |
A |
T |
11: 76,936,612 (GRCm39) |
M528K |
probably damaging |
Het |
| Nup54 |
T |
C |
5: 92,576,006 (GRCm39) |
I162V |
probably benign |
Het |
| Obsl1 |
T |
A |
1: 75,482,096 (GRCm39) |
N258I |
probably damaging |
Het |
| Or1j4 |
A |
G |
2: 36,740,156 (GRCm39) |
T33A |
probably benign |
Het |
| Or2y1b |
G |
T |
11: 49,208,968 (GRCm39) |
M198I |
probably benign |
Het |
| Or5p6 |
T |
C |
7: 107,631,470 (GRCm39) |
R27G |
possibly damaging |
Het |
| Or5p73 |
T |
C |
7: 108,064,693 (GRCm39) |
V54A |
probably benign |
Het |
| Pax2 |
G |
A |
19: 44,749,328 (GRCm39) |
V20M |
probably damaging |
Het |
| Pigb |
A |
T |
9: 72,922,546 (GRCm39) |
M13K |
unknown |
Het |
| Pigt |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
2: 164,341,589 (GRCm39) |
|
probably null |
Het |
| Pik3c2a |
T |
C |
7: 116,017,271 (GRCm39) |
Y162C |
probably damaging |
Het |
| Pik3c2g |
A |
T |
6: 139,599,067 (GRCm39) |
D61V |
probably benign |
Het |
| Plscr4 |
C |
T |
9: 92,372,843 (GRCm39) |
R322* |
probably null |
Het |
| Pramel17 |
A |
G |
4: 101,694,448 (GRCm39) |
V145A |
probably damaging |
Het |
| Prss46 |
A |
G |
9: 110,685,144 (GRCm39) |
D256G |
probably benign |
Het |
| Rims1 |
G |
T |
1: 22,482,437 (GRCm39) |
D196E |
|
Het |
| Sbf1 |
A |
G |
15: 89,178,408 (GRCm39) |
L1498P |
probably damaging |
Het |
| Sh2b1 |
T |
C |
7: 126,068,479 (GRCm39) |
D444G |
possibly damaging |
Het |
| Slc7a15 |
T |
G |
12: 8,589,395 (GRCm39) |
M51L |
probably damaging |
Het |
| Slitrk1 |
T |
C |
14: 109,150,697 (GRCm39) |
I5V |
probably benign |
Het |
| Spart |
T |
A |
3: 55,024,773 (GRCm39) |
C123S |
probably benign |
Het |
| Sry |
C |
T |
Y: 2,663,303 (GRCm39) |
R119K |
possibly damaging |
Het |
| Tasor2 |
C |
T |
13: 3,625,681 (GRCm39) |
S1423N |
probably benign |
Het |
| Tbcc |
T |
C |
17: 47,201,686 (GRCm39) |
V24A |
possibly damaging |
Het |
| Thnsl1 |
A |
G |
2: 21,216,755 (GRCm39) |
I170V |
probably benign |
Het |
| Ticrr |
T |
G |
7: 79,343,796 (GRCm39) |
S1220R |
probably damaging |
Het |
| Tmem262 |
T |
C |
19: 6,130,507 (GRCm39) |
M77T |
possibly damaging |
Het |
| Tmem67 |
A |
G |
4: 12,047,821 (GRCm39) |
S771P |
probably damaging |
Het |
| Tsc2 |
G |
A |
17: 24,818,570 (GRCm39) |
A1423V |
probably damaging |
Het |
| Ubr4 |
T |
A |
4: 139,139,941 (GRCm39) |
Y1175N |
probably damaging |
Het |
| Usp25 |
G |
A |
16: 76,873,956 (GRCm39) |
A511T |
probably benign |
Het |
| Vmn2r115 |
T |
A |
17: 23,563,124 (GRCm39) |
Y58* |
probably null |
Het |
| Wt1 |
T |
C |
2: 104,957,789 (GRCm39) |
|
probably null |
Het |
| Zfp735 |
A |
T |
11: 73,603,140 (GRCm39) |
K695* |
probably null |
Het |
| Zkscan14 |
A |
G |
5: 145,132,568 (GRCm39) |
F321S |
possibly damaging |
Het |
| Zswim9 |
T |
C |
7: 12,995,064 (GRCm39) |
E364G |
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 |
|
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 |
|
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'- GACAATCCCACTCTGGTTCC -3'
(R):5'- TGGAGGGGAAACTTTGATCC -3'
Sequencing Primer
(F):5'- TTTGTGACACAGACTGCGC -3'
(R):5'- GGAAACTTTGATCCCAAGTCCGTG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation