Incidental Mutation 'IGL02986:Tfap2c'
| ID |
406736 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tfap2c
|
| Ensembl Gene |
ENSMUSG00000028640 |
| Gene Name |
transcription factor AP-2, gamma |
| Synonyms |
Tcfap2c, AP2gamma, Stra2, Ap-2.2 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02986
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
172391513-172400542 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 172399171 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 448
(S448P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129922
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030391]
[ENSMUST00000099058]
[ENSMUST00000170744]
|
| AlphaFold |
Q61312 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030391
AA Change: S409P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000030391
Gene: ENSMUSG00000028640
AA Change: S409P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
54 |
66 |
N/A |
INTRINSIC |
|
low complexity region
|
112 |
124 |
N/A |
INTRINSIC |
|
low complexity region
|
148 |
168 |
N/A |
INTRINSIC |
|
Pfam:TF_AP-2
|
219 |
427 |
2.1e-102 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099058
AA Change: S473P
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000096657
Gene: ENSMUSG00000028640
AA Change: S473P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
118 |
130 |
N/A |
INTRINSIC |
|
low complexity region
|
176 |
188 |
N/A |
INTRINSIC |
|
low complexity region
|
212 |
232 |
N/A |
INTRINSIC |
|
Pfam:TF_AP-2
|
285 |
486 |
2e-92 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122982
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128406
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142633
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170744
AA Change: S448P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000129922
Gene: ENSMUSG00000028640
AA Change: S448P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
93 |
105 |
N/A |
INTRINSIC |
|
low complexity region
|
151 |
163 |
N/A |
INTRINSIC |
|
low complexity region
|
187 |
207 |
N/A |
INTRINSIC |
|
Pfam:TF_AP-2
|
258 |
466 |
4.4e-102 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a sequence-specific DNA-binding transcription factor involved in the activation of several developmental genes. The encoded protein can act as either a homodimer or heterodimer with other family members and is induced during retinoic acid-mediated differentiation. It plays a role in the development of the eyes, face, body wall, limbs, and neural tube. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene leads to embryonic growth retardation, failure to establish a normal maternal-embryonic interface, malformed extra-embryonic tissues, and early embryonic lethality due to placental malfunction. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agrn |
A |
G |
4: 156,263,311 (GRCm39) |
V264A |
possibly damaging |
Het |
| Akr1c6 |
G |
T |
13: 4,486,414 (GRCm39) |
V74L |
probably benign |
Het |
| Atp10a |
T |
G |
7: 58,478,469 (GRCm39) |
V1504G |
probably benign |
Het |
| Ccng1 |
A |
G |
11: 40,641,690 (GRCm39) |
|
probably benign |
Het |
| Celsr3 |
A |
T |
9: 108,718,454 (GRCm39) |
|
probably null |
Het |
| Coro1b |
T |
C |
19: 4,199,470 (GRCm39) |
V43A |
possibly damaging |
Het |
| Dab1 |
A |
G |
4: 104,336,418 (GRCm39) |
T5A |
probably benign |
Het |
| Dennd5a |
C |
T |
7: 109,534,731 (GRCm39) |
A47T |
probably benign |
Het |
| Dgkb |
A |
G |
12: 38,150,399 (GRCm39) |
T69A |
possibly damaging |
Het |
| Dhx37 |
G |
A |
5: 125,496,379 (GRCm39) |
P721L |
probably damaging |
Het |
| Efr3b |
T |
C |
12: 4,016,495 (GRCm39) |
N641D |
probably benign |
Het |
| Espnl |
A |
T |
1: 91,272,572 (GRCm39) |
Q600L |
probably benign |
Het |
| Esyt1 |
A |
G |
10: 128,352,626 (GRCm39) |
V693A |
probably damaging |
Het |
| Fscn2 |
A |
G |
11: 120,258,176 (GRCm39) |
D366G |
possibly damaging |
Het |
| Gcsam |
C |
A |
16: 45,440,366 (GRCm39) |
F136L |
probably benign |
Het |
| Gm10643 |
A |
T |
8: 84,790,887 (GRCm39) |
|
probably benign |
Het |
| Habp2 |
A |
T |
19: 56,299,624 (GRCm39) |
D174V |
probably benign |
Het |
| Hgfac |
T |
C |
5: 35,201,207 (GRCm39) |
V210A |
probably benign |
Het |
| Hipk3 |
T |
C |
2: 104,264,086 (GRCm39) |
D804G |
probably damaging |
Het |
| L3mbtl1 |
T |
C |
2: 162,812,225 (GRCm39) |
W757R |
probably damaging |
Het |
| Lrrfip2 |
A |
G |
9: 110,990,461 (GRCm39) |
|
probably null |
Het |
| Ly75 |
T |
C |
2: 60,138,535 (GRCm39) |
D1444G |
probably damaging |
Het |
| Mars1 |
A |
G |
10: 127,133,438 (GRCm39) |
V765A |
probably benign |
Het |
| Med1 |
A |
G |
11: 98,047,086 (GRCm39) |
|
probably benign |
Het |
| Msln |
G |
A |
17: 25,971,907 (GRCm39) |
|
probably benign |
Het |
| Nup188 |
T |
A |
2: 30,197,645 (GRCm39) |
|
probably null |
Het |
| Or1p1c |
T |
G |
11: 74,160,928 (GRCm39) |
F238V |
possibly damaging |
Het |
| Or7e173 |
A |
T |
9: 19,939,007 (GRCm39) |
F76I |
probably benign |
Het |
| Otop2 |
T |
A |
11: 115,220,393 (GRCm39) |
M411K |
probably benign |
Het |
| Picalm |
A |
G |
7: 89,856,793 (GRCm39) |
I649M |
probably benign |
Het |
| Plekha8 |
T |
C |
6: 54,606,851 (GRCm39) |
L382P |
probably damaging |
Het |
| Pspn |
A |
G |
17: 57,306,853 (GRCm39) |
|
probably benign |
Het |
| Rnf215 |
A |
G |
11: 4,089,793 (GRCm39) |
T269A |
probably damaging |
Het |
| Rps6kc1 |
A |
T |
1: 190,566,258 (GRCm39) |
L329Q |
probably damaging |
Het |
| Srms |
T |
A |
2: 180,854,290 (GRCm39) |
R92S |
possibly damaging |
Het |
| Ssxb10 |
C |
A |
X: 8,201,845 (GRCm39) |
S157* |
probably null |
Het |
| Thsd7b |
A |
G |
1: 129,843,352 (GRCm39) |
N855D |
probably benign |
Het |
| Timeless |
A |
C |
10: 128,085,629 (GRCm39) |
D887A |
possibly damaging |
Het |
| Tyms |
T |
C |
5: 30,266,997 (GRCm39) |
Y169C |
probably damaging |
Het |
| Unc45b |
T |
A |
11: 82,808,005 (GRCm39) |
C207S |
probably damaging |
Het |
| Utp20 |
A |
G |
10: 88,611,147 (GRCm39) |
F1390S |
probably damaging |
Het |
| Vmn2r53 |
A |
T |
7: 12,315,393 (GRCm39) |
|
probably benign |
Het |
| Zfp369 |
A |
T |
13: 65,428,095 (GRCm39) |
D18V |
probably damaging |
Het |
|
| Other mutations in Tfap2c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00662:Tfap2c
|
APN |
2 |
172,393,438 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03151:Tfap2c
|
APN |
2 |
172,399,110 (GRCm39) |
nonsense |
probably null |
|
|
BB009:Tfap2c
|
UTSW |
2 |
172,393,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB019:Tfap2c
|
UTSW |
2 |
172,393,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0268:Tfap2c
|
UTSW |
2 |
172,393,423 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0344:Tfap2c
|
UTSW |
2 |
172,393,423 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1982:Tfap2c
|
UTSW |
2 |
172,399,156 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3120:Tfap2c
|
UTSW |
2 |
172,399,015 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R4038:Tfap2c
|
UTSW |
2 |
172,398,110 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4498:Tfap2c
|
UTSW |
2 |
172,399,102 (GRCm39) |
nonsense |
probably null |
|
|
R4570:Tfap2c
|
UTSW |
2 |
172,399,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4855:Tfap2c
|
UTSW |
2 |
172,393,438 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5061:Tfap2c
|
UTSW |
2 |
172,393,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5610:Tfap2c
|
UTSW |
2 |
172,391,778 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6706:Tfap2c
|
UTSW |
2 |
172,399,276 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7218:Tfap2c
|
UTSW |
2 |
172,399,277 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7228:Tfap2c
|
UTSW |
2 |
172,393,492 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7502:Tfap2c
|
UTSW |
2 |
172,393,639 (GRCm39) |
missense |
probably benign |
|
|
R7932:Tfap2c
|
UTSW |
2 |
172,393,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8078:Tfap2c
|
UTSW |
2 |
172,393,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8336:Tfap2c
|
UTSW |
2 |
172,399,112 (GRCm39) |
nonsense |
probably null |
|
|
R8686:Tfap2c
|
UTSW |
2 |
172,393,926 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9301:Tfap2c
|
UTSW |
2 |
172,395,347 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9608:Tfap2c
|
UTSW |
2 |
172,391,764 (GRCm39) |
nonsense |
probably null |
|
|
R9663:Tfap2c
|
UTSW |
2 |
172,399,213 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2016-08-02 |
Incidental Mutation