Incidental Mutation 'R4300:Tfap4'
| ID |
322393 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tfap4
|
| Ensembl Gene |
ENSMUSG00000005718 |
| Gene Name |
transcription factor AP4 |
| Synonyms |
AP-4, Tcfap4, D930048N17Rik, bHLHc41 |
| MMRRC Submission |
041657-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.657)
|
| Stock # |
R4300 (G1)
|
| Quality Score |
112 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
4362525-4377718 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 4369224 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 132
(D132G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005862
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005862]
[ENSMUST00000229956]
[ENSMUST00000230875]
|
| AlphaFold |
Q9JIZ5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000005862
AA Change: D132G
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000005862
Gene: ENSMUSG00000005718
AA Change: D132G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
41 |
52 |
N/A |
INTRINSIC |
|
HLH
|
54 |
105 |
2.06e-16 |
SMART |
|
coiled coil region
|
144 |
183 |
N/A |
INTRINSIC |
|
low complexity region
|
193 |
210 |
N/A |
INTRINSIC |
|
low complexity region
|
225 |
238 |
N/A |
INTRINSIC |
|
low complexity region
|
306 |
327 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229956
AA Change: D112G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230875
AA Change: D72G
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| Meta Mutation Damage Score |
0.0735 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
100% (40/40) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Transcription factors of the basic helix-loop-helix-zipper (bHLH-ZIP) family contain a basic domain, which is used for DNA binding, and HLH and ZIP domains, which are used for oligomerization. Transcription factor AP4 activates both viral and cellular genes by binding to the symmetrical DNA sequence CAGCTG (Mermod et al., 1988 [PubMed 2833704]; Hu et al., 1990 [PubMed 2123466]).[supplied by OMIM, Jul 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial prenatal lethality and reduced suppression of Cd4 in double negative thymocytes. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503B20Rik |
T |
A |
3: 146,356,675 (GRCm39) |
R78* |
probably null |
Het |
| A2m |
G |
A |
6: 121,650,434 (GRCm39) |
V1181I |
probably benign |
Het |
| Cacna1b |
T |
C |
2: 24,525,251 (GRCm39) |
S1639G |
probably damaging |
Het |
| Ccs |
T |
C |
19: 4,884,285 (GRCm39) |
T56A |
probably benign |
Het |
| Cd177 |
T |
C |
7: 24,449,845 (GRCm39) |
I547V |
possibly damaging |
Het |
| Ckmt2 |
C |
A |
13: 92,011,457 (GRCm39) |
|
probably null |
Het |
| Cyth1 |
A |
G |
11: 118,074,720 (GRCm39) |
F180L |
probably damaging |
Het |
| Dip2c |
A |
G |
13: 9,660,747 (GRCm39) |
I840M |
probably damaging |
Het |
| Gm37150 |
G |
A |
9: 72,292,758 (GRCm39) |
|
noncoding transcript |
Het |
| Herc1 |
A |
G |
9: 66,396,688 (GRCm39) |
D4255G |
probably damaging |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Kcnn4 |
G |
T |
7: 24,077,029 (GRCm39) |
V193L |
probably benign |
Het |
| Lrrc8d |
G |
A |
5: 105,961,606 (GRCm39) |
R672Q |
probably damaging |
Het |
| Mboat2 |
A |
G |
12: 25,009,082 (GRCm39) |
N463D |
probably benign |
Het |
| Mtfr1 |
T |
A |
3: 19,269,621 (GRCm39) |
|
probably null |
Het |
| Or10g6 |
A |
C |
9: 39,934,435 (GRCm39) |
I249L |
probably benign |
Het |
| Or5h24 |
T |
C |
16: 58,918,641 (GRCm39) |
Y238C |
unknown |
Het |
| Pcnt |
G |
C |
10: 76,203,225 (GRCm39) |
R2626G |
probably benign |
Het |
| Pik3cg |
A |
G |
12: 32,226,671 (GRCm39) |
I1072T |
probably damaging |
Het |
| Prc1 |
G |
A |
7: 79,960,964 (GRCm39) |
|
probably benign |
Het |
| Psph |
G |
T |
5: 129,864,529 (GRCm39) |
|
probably null |
Het |
| Rfx4 |
T |
C |
10: 84,740,966 (GRCm39) |
Y601H |
probably damaging |
Het |
| Rmc1 |
A |
G |
18: 12,321,919 (GRCm39) |
N513D |
probably benign |
Het |
| Setd5 |
T |
G |
6: 113,127,123 (GRCm39) |
V1249G |
probably damaging |
Het |
| Sirpb1b |
A |
T |
3: 15,613,821 (GRCm39) |
I87K |
probably damaging |
Het |
| Slc14a2 |
G |
A |
18: 78,250,283 (GRCm39) |
R62C |
probably damaging |
Het |
| Spata31 |
A |
T |
13: 65,067,575 (GRCm39) |
H79L |
probably benign |
Het |
| Srbd1 |
C |
A |
17: 86,292,632 (GRCm39) |
R979L |
probably damaging |
Het |
| Stox2 |
A |
T |
8: 47,647,027 (GRCm39) |
Y208* |
probably null |
Het |
| Sun1 |
A |
T |
5: 139,213,349 (GRCm39) |
|
probably benign |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Tubgcp3 |
G |
T |
8: 12,707,600 (GRCm39) |
P130T |
probably damaging |
Het |
| Txlnb |
A |
G |
10: 17,703,673 (GRCm39) |
E277G |
probably damaging |
Het |
|
| Other mutations in Tfap4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01155:Tfap4
|
APN |
16 |
4,365,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01816:Tfap4
|
APN |
16 |
4,369,956 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02947:Tfap4
|
APN |
16 |
4,369,224 (GRCm39) |
missense |
probably damaging |
0.99 |
|
E0370:Tfap4
|
UTSW |
16 |
4,377,334 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1311:Tfap4
|
UTSW |
16 |
4,377,290 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1791:Tfap4
|
UTSW |
16 |
4,369,933 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4371:Tfap4
|
UTSW |
16 |
4,369,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5945:Tfap4
|
UTSW |
16 |
4,363,493 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6219:Tfap4
|
UTSW |
16 |
4,365,175 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6738:Tfap4
|
UTSW |
16 |
4,367,311 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7678:Tfap4
|
UTSW |
16 |
4,369,630 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8496:Tfap4
|
UTSW |
16 |
4,369,170 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8854:Tfap4
|
UTSW |
16 |
4,367,238 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8927:Tfap4
|
UTSW |
16 |
4,369,218 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8928:Tfap4
|
UTSW |
16 |
4,369,218 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9127:Tfap4
|
UTSW |
16 |
4,365,183 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
X0065:Tfap4
|
UTSW |
16 |
4,365,140 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGACTCTGGGCATCACAC -3'
(R):5'- CTAGAACGTAAGGCCATTCTTCC -3'
Sequencing Primer
(F):5'- ATCACACTGGCCAGCAGAGG -3'
(R):5'- ATTCTTCCACGCCTGCAGGG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation