Incidental Mutation 'IGL02613:Tfap2d'
| ID |
300559 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tfap2d
|
| Ensembl Gene |
ENSMUSG00000042596 |
| Gene Name |
transcription factor AP-2, delta |
| Synonyms |
Tcfap2d |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02613
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
19173246-19236570 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 19189415 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 265
(L265Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037699
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037294]
|
| AlphaFold |
Q91ZK0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037294
AA Change: L265Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000037699
Gene: ENSMUSG00000042596
AA Change: L265Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
41 |
53 |
N/A |
INTRINSIC |
|
low complexity region
|
96 |
107 |
N/A |
INTRINSIC |
|
low complexity region
|
162 |
181 |
N/A |
INTRINSIC |
|
Pfam:TF_AP-2
|
209 |
409 |
3.3e-91 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149505
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit loss of inferior colliculus due to apoptosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy8 |
T |
G |
15: 64,655,833 (GRCm39) |
I549L |
possibly damaging |
Het |
| Arhgef17 |
A |
T |
7: 100,578,103 (GRCm39) |
H948Q |
probably damaging |
Het |
| Auh |
A |
G |
13: 53,073,035 (GRCm39) |
|
probably null |
Het |
| Btf3 |
A |
G |
13: 98,446,714 (GRCm39) |
|
probably benign |
Het |
| Capg |
A |
G |
6: 72,532,594 (GRCm39) |
N53S |
probably damaging |
Het |
| Cfap70 |
T |
C |
14: 20,459,132 (GRCm39) |
|
probably null |
Het |
| Chrna5 |
A |
T |
9: 54,913,705 (GRCm39) |
E417V |
probably damaging |
Het |
| Coch |
A |
G |
12: 51,642,132 (GRCm39) |
T35A |
possibly damaging |
Het |
| Dock4 |
T |
A |
12: 40,860,465 (GRCm39) |
L1284M |
probably damaging |
Het |
| Etv3 |
A |
G |
3: 87,443,702 (GRCm39) |
T429A |
possibly damaging |
Het |
| Fmnl2 |
T |
C |
2: 52,963,747 (GRCm39) |
|
probably null |
Het |
| Glb1 |
A |
G |
9: 114,293,130 (GRCm39) |
T502A |
possibly damaging |
Het |
| Greb1 |
C |
A |
12: 16,789,889 (GRCm39) |
|
probably null |
Het |
| Hspg2 |
A |
G |
4: 137,271,731 (GRCm39) |
Y2499C |
probably damaging |
Het |
| Kcnq1 |
A |
T |
7: 142,979,863 (GRCm39) |
|
probably benign |
Het |
| Lrriq1 |
A |
G |
10: 102,980,409 (GRCm39) |
S1497P |
probably damaging |
Het |
| Magel2 |
G |
A |
7: 62,029,946 (GRCm39) |
R950H |
unknown |
Het |
| Mcc |
A |
G |
18: 44,563,021 (GRCm39) |
L982P |
probably damaging |
Het |
| Naif1 |
T |
A |
2: 32,345,172 (GRCm39) |
M292K |
possibly damaging |
Het |
| Npb |
T |
A |
11: 120,499,716 (GRCm39) |
C99S |
probably damaging |
Het |
| Obscn |
G |
T |
11: 58,892,958 (GRCm39) |
R6763S |
probably benign |
Het |
| Or13a21 |
A |
G |
7: 139,999,383 (GRCm39) |
V101A |
probably benign |
Het |
| Or5p56 |
C |
T |
7: 107,590,381 (GRCm39) |
Q270* |
probably null |
Het |
| Pip5k1c |
C |
A |
10: 81,153,155 (GRCm39) |
|
probably null |
Het |
| Pitpnm3 |
A |
T |
11: 71,948,898 (GRCm39) |
S736T |
probably damaging |
Het |
| Polr1a |
A |
T |
6: 71,944,304 (GRCm39) |
E1257V |
probably damaging |
Het |
| Sec63 |
G |
A |
10: 42,677,703 (GRCm39) |
D270N |
probably damaging |
Het |
| Snrnp200 |
C |
T |
2: 127,060,346 (GRCm39) |
T530I |
probably damaging |
Het |
| Sorbs1 |
A |
T |
19: 40,315,991 (GRCm39) |
N383K |
probably damaging |
Het |
| Syk |
G |
A |
13: 52,797,076 (GRCm39) |
G546R |
probably damaging |
Het |
| Trav12-1 |
C |
T |
14: 53,775,742 (GRCm39) |
S9L |
possibly damaging |
Het |
| Trerf1 |
T |
C |
17: 47,659,766 (GRCm39) |
|
noncoding transcript |
Het |
| Ttn |
T |
A |
2: 76,558,704 (GRCm39) |
I29726L |
possibly damaging |
Het |
| Usp18 |
A |
G |
6: 121,238,049 (GRCm39) |
T143A |
probably benign |
Het |
| Usp32 |
A |
T |
11: 84,930,896 (GRCm39) |
N511K |
probably damaging |
Het |
| Wdr64 |
C |
T |
1: 175,594,613 (GRCm39) |
Q4* |
probably null |
Het |
| Zfp277 |
A |
G |
12: 40,379,514 (GRCm39) |
F340S |
probably damaging |
Het |
|
| Other mutations in Tfap2d |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00484:Tfap2d
|
APN |
1 |
19,213,105 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL00837:Tfap2d
|
APN |
1 |
19,189,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01370:Tfap2d
|
APN |
1 |
19,175,009 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01470:Tfap2d
|
APN |
1 |
19,218,620 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01757:Tfap2d
|
APN |
1 |
19,174,804 (GRCm39) |
missense |
probably benign |
|
|
IGL01986:Tfap2d
|
APN |
1 |
19,189,383 (GRCm39) |
splice site |
probably benign |
|
|
IGL02666:Tfap2d
|
APN |
1 |
19,174,979 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL02812:Tfap2d
|
APN |
1 |
19,213,151 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL02900:Tfap2d
|
APN |
1 |
19,189,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03184:Tfap2d
|
APN |
1 |
19,189,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0389:Tfap2d
|
UTSW |
1 |
19,174,591 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0443:Tfap2d
|
UTSW |
1 |
19,174,591 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3962:Tfap2d
|
UTSW |
1 |
19,189,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3977:Tfap2d
|
UTSW |
1 |
19,174,718 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R3980:Tfap2d
|
UTSW |
1 |
19,236,187 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4721:Tfap2d
|
UTSW |
1 |
19,174,984 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6281:Tfap2d
|
UTSW |
1 |
19,174,702 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6283:Tfap2d
|
UTSW |
1 |
19,174,702 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6492:Tfap2d
|
UTSW |
1 |
19,174,702 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6493:Tfap2d
|
UTSW |
1 |
19,174,702 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6751:Tfap2d
|
UTSW |
1 |
19,173,507 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7288:Tfap2d
|
UTSW |
1 |
19,189,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7400:Tfap2d
|
UTSW |
1 |
19,213,150 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R8156:Tfap2d
|
UTSW |
1 |
19,173,486 (GRCm39) |
missense |
probably benign |
|
|
R8551:Tfap2d
|
UTSW |
1 |
19,175,024 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8686:Tfap2d
|
UTSW |
1 |
19,178,508 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8838:Tfap2d
|
UTSW |
1 |
19,175,036 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
| Posted On |
2015-04-16 |
Incidental Mutation