Incidental Mutation 'IGL01757:Tfap2d'
ID |
153202 |
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 # |
IGL01757
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
19173246-19236570 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 19174804 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 86
(T86A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000037699
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037294]
|
AlphaFold |
Q91ZK0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000037294
AA Change: T86A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000037699 Gene: ENSMUSG00000042596 AA Change: T86A
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159108
|
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: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc6 |
T |
C |
7: 45,639,705 (GRCm39) |
|
probably benign |
Het |
Adamts9 |
T |
C |
6: 92,773,140 (GRCm39) |
Y1789C |
probably damaging |
Het |
Cdcp1 |
A |
T |
9: 123,009,066 (GRCm39) |
Y537* |
probably null |
Het |
Chic2 |
T |
C |
5: 75,167,428 (GRCm39) |
|
probably benign |
Het |
Cpa5 |
G |
A |
6: 30,625,926 (GRCm39) |
|
probably benign |
Het |
Csgalnact2 |
T |
C |
6: 118,106,307 (GRCm39) |
R4G |
probably damaging |
Het |
Dnah10 |
T |
A |
5: 124,845,991 (GRCm39) |
V1510D |
probably benign |
Het |
Dnm2 |
T |
A |
9: 21,376,915 (GRCm39) |
F91L |
probably damaging |
Het |
Eif2b1 |
T |
C |
5: 124,711,203 (GRCm39) |
K189E |
probably benign |
Het |
Fgf17 |
A |
T |
14: 70,874,420 (GRCm39) |
L123Q |
probably damaging |
Het |
Ifna15 |
T |
C |
4: 88,476,322 (GRCm39) |
K54R |
possibly damaging |
Het |
Isg15 |
A |
G |
4: 156,284,301 (GRCm39) |
C76R |
probably damaging |
Het |
Ldb2 |
A |
T |
5: 44,699,209 (GRCm39) |
|
probably benign |
Het |
Lig4 |
A |
G |
8: 10,021,185 (GRCm39) |
I865T |
probably benign |
Het |
Lrrc46 |
T |
C |
11: 96,926,701 (GRCm39) |
Y154C |
probably damaging |
Het |
Lrrc8a |
G |
A |
2: 30,145,537 (GRCm39) |
R117H |
possibly damaging |
Het |
Mrpl2 |
A |
G |
17: 46,959,183 (GRCm39) |
I96V |
probably damaging |
Het |
Mtif2 |
G |
A |
11: 29,491,337 (GRCm39) |
|
probably benign |
Het |
Or2n1 |
G |
T |
17: 38,486,577 (GRCm39) |
V201L |
probably benign |
Het |
Ptpn23 |
G |
A |
9: 110,220,704 (GRCm39) |
R269W |
probably damaging |
Het |
Senp2 |
T |
C |
16: 21,828,414 (GRCm39) |
V8A |
probably benign |
Het |
Slf1 |
T |
C |
13: 77,232,559 (GRCm39) |
D515G |
probably benign |
Het |
Spc25 |
G |
A |
2: 69,032,952 (GRCm39) |
Q58* |
probably null |
Het |
Sult2a5 |
T |
C |
7: 13,399,079 (GRCm39) |
S229P |
probably damaging |
Het |
Trp53bp1 |
A |
G |
2: 121,041,785 (GRCm39) |
V1257A |
probably damaging |
Het |
Wdr6 |
A |
G |
9: 108,453,427 (GRCm39) |
V152A |
possibly damaging |
Het |
Zdhhc7 |
A |
G |
8: 120,814,662 (GRCm39) |
V49A |
probably benign |
Het |
Zfp648 |
T |
C |
1: 154,080,671 (GRCm39) |
S277P |
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 |
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 |
2014-02-04 |