Incidental Mutation 'IGL01470:Tfap2d'
| ID |
88235 |
| 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 # |
IGL01470
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
19173246-19236570 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 19218620 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 373
(Q373L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037699
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037294]
|
| AlphaFold |
Q91ZK0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037294
AA Change: Q373L
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000037699
Gene: ENSMUSG00000042596
AA Change: Q373L
| 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 |
|---|
| 3425401B19Rik |
T |
C |
14: 32,382,414 (GRCm39) |
T1184A |
possibly damaging |
Het |
| A2ml1 |
A |
G |
6: 128,557,375 (GRCm39) |
I106T |
probably damaging |
Het |
| Asic4 |
C |
T |
1: 75,427,510 (GRCm39) |
A12V |
probably damaging |
Het |
| Cacna1d |
A |
T |
14: 29,821,099 (GRCm39) |
V1139D |
probably damaging |
Het |
| Edc4 |
T |
C |
8: 106,616,613 (GRCm39) |
|
probably benign |
Het |
| Eif4h |
A |
T |
5: 134,654,393 (GRCm39) |
|
probably null |
Het |
| Exog |
C |
A |
9: 119,291,592 (GRCm39) |
Q290K |
probably damaging |
Het |
| Fam83c |
A |
T |
2: 155,676,728 (GRCm39) |
I14K |
possibly damaging |
Het |
| Fes |
A |
T |
7: 80,033,021 (GRCm39) |
Y268N |
probably benign |
Het |
| Fhod1 |
A |
G |
8: 106,056,281 (GRCm39) |
L1144P |
probably damaging |
Het |
| Frem3 |
C |
T |
8: 81,340,944 (GRCm39) |
T1079I |
probably damaging |
Het |
| Gbp10 |
A |
G |
5: 105,368,980 (GRCm39) |
|
probably benign |
Het |
| Herc1 |
T |
C |
9: 66,404,918 (GRCm39) |
V4496A |
possibly damaging |
Het |
| Lamb1 |
A |
G |
12: 31,350,261 (GRCm39) |
R729G |
possibly damaging |
Het |
| Lifr |
T |
A |
15: 7,205,147 (GRCm39) |
C461* |
probably null |
Het |
| Lypd6 |
T |
C |
2: 50,078,795 (GRCm39) |
V97A |
probably benign |
Het |
| Map3k5 |
A |
G |
10: 19,993,933 (GRCm39) |
E973G |
possibly damaging |
Het |
| Mep1b |
A |
T |
18: 21,230,524 (GRCm39) |
N692I |
probably benign |
Het |
| Mrpl15 |
A |
G |
1: 4,846,754 (GRCm39) |
V274A |
probably damaging |
Het |
| Naaa |
A |
G |
5: 92,411,507 (GRCm39) |
I264T |
probably damaging |
Het |
| Nlrp4c |
T |
C |
7: 6,103,783 (GRCm39) |
C906R |
possibly damaging |
Het |
| Or1j15 |
T |
A |
2: 36,458,754 (GRCm39) |
L48H |
probably damaging |
Het |
| Or4x11 |
T |
C |
2: 89,868,162 (GRCm39) |
W300R |
possibly damaging |
Het |
| Or5b95 |
T |
C |
19: 12,658,035 (GRCm39) |
S188P |
possibly damaging |
Het |
| Or8b38 |
A |
T |
9: 37,973,300 (GRCm39) |
H228L |
possibly damaging |
Het |
| Or8k3 |
T |
C |
2: 86,058,628 (GRCm39) |
N229S |
probably benign |
Het |
| Phc2 |
C |
T |
4: 128,616,903 (GRCm39) |
T392I |
probably benign |
Het |
| Ptprg |
G |
A |
14: 12,213,702 (GRCm38) |
W248* |
probably null |
Het |
| Pzp |
T |
A |
6: 128,498,087 (GRCm39) |
E243D |
probably benign |
Het |
| Rbm33 |
T |
A |
5: 28,592,846 (GRCm39) |
L542Q |
probably damaging |
Het |
| Recql4 |
G |
A |
15: 76,593,144 (GRCm39) |
T229I |
probably benign |
Het |
| Ssbp3 |
T |
C |
4: 106,894,855 (GRCm39) |
|
probably benign |
Het |
| Timmdc1 |
A |
G |
16: 38,338,902 (GRCm39) |
|
probably benign |
Het |
| Tiparp |
G |
T |
3: 65,460,030 (GRCm39) |
G442* |
probably null |
Het |
| Vmn2r4 |
A |
T |
3: 64,313,816 (GRCm39) |
N388K |
probably damaging |
Het |
| Vps13c |
T |
C |
9: 67,820,209 (GRCm39) |
|
probably benign |
Het |
| Zfp551 |
A |
G |
7: 12,152,468 (GRCm39) |
|
probably null |
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 |
|
IGL01757:Tfap2d
|
APN |
1 |
19,174,804 (GRCm39) |
missense |
probably benign |
|
|
IGL01986:Tfap2d
|
APN |
1 |
19,189,383 (GRCm39) |
splice site |
probably benign |
|
|
IGL02613:Tfap2d
|
APN |
1 |
19,189,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2013-11-18 |
Incidental Mutation