Incidental Mutation 'R3120:Tfap2c'
| ID |
263163 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tfap2c
|
| Ensembl Gene |
ENSMUSG00000028640 |
| Gene Name |
transcription factor AP-2, gamma |
| Synonyms |
Tcfap2c, AP2gamma, Stra2, Ap-2.2 |
| MMRRC Submission |
040593-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3120 (G1)
|
| Quality Score |
220 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
172391513-172400542 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 172399015 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 396
(V396M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129922
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030391]
[ENSMUST00000099058]
[ENSMUST00000170744]
|
| AlphaFold |
Q61312 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030391
AA Change: V357M
PolyPhen 2
Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000030391
Gene: ENSMUSG00000028640
AA Change: V357M
| 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 |
possibly damaging
Transcript: ENSMUST00000099058
AA Change: V421M
PolyPhen 2
Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000096657
Gene: ENSMUSG00000028640
AA Change: V421M
| 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 |
possibly damaging
Transcript: ENSMUST00000170744
AA Change: V396M
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000129922
Gene: ENSMUSG00000028640
AA Change: V396M
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bsx |
A |
G |
9: 40,788,908 (GRCm39) |
K155R |
possibly damaging |
Het |
| Ccdc39 |
T |
C |
3: 33,891,987 (GRCm39) |
K162E |
probably damaging |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Dnah1 |
G |
A |
14: 30,988,779 (GRCm39) |
R3351* |
probably null |
Het |
| Eml1 |
A |
G |
12: 108,479,312 (GRCm39) |
R362G |
probably benign |
Het |
| Fam222b |
T |
C |
11: 78,044,742 (GRCm39) |
L101P |
probably damaging |
Het |
| Fars2 |
A |
G |
13: 36,430,400 (GRCm39) |
E276G |
probably damaging |
Het |
| Gatad1 |
G |
T |
5: 3,691,456 (GRCm39) |
Y33* |
probably null |
Het |
| Gclc |
A |
C |
9: 77,688,552 (GRCm39) |
E219A |
possibly damaging |
Het |
| Gm4846 |
A |
G |
1: 166,319,117 (GRCm39) |
V207A |
probably benign |
Het |
| H1f5 |
A |
T |
13: 21,964,215 (GRCm39) |
S170R |
probably benign |
Het |
| Hbq1a |
T |
C |
11: 32,250,472 (GRCm39) |
L87P |
probably damaging |
Het |
| Magea6 |
A |
T |
X: 153,707,291 (GRCm39) |
I255N |
probably benign |
Het |
| Mfsd12 |
T |
G |
10: 81,197,049 (GRCm39) |
V206G |
probably benign |
Het |
| Mis18bp1 |
T |
C |
12: 65,203,762 (GRCm39) |
|
probably null |
Het |
| Nf1 |
C |
A |
11: 79,455,725 (GRCm39) |
T550K |
probably damaging |
Het |
| Nlrp4f |
T |
C |
13: 65,342,530 (GRCm39) |
T372A |
probably benign |
Het |
| Or5p70 |
T |
C |
7: 107,994,930 (GRCm39) |
I201T |
possibly damaging |
Het |
| Pkdcc |
T |
C |
17: 83,527,466 (GRCm39) |
Y215H |
probably damaging |
Het |
| Plekha5 |
A |
G |
6: 140,537,367 (GRCm39) |
T253A |
probably benign |
Het |
| Polr2f |
T |
A |
15: 79,028,788 (GRCm39) |
|
probably null |
Het |
| Prph2 |
C |
T |
17: 47,234,298 (GRCm39) |
A289V |
possibly damaging |
Het |
| Ptdss2 |
C |
T |
7: 140,732,132 (GRCm39) |
H140Y |
probably damaging |
Het |
| Rlf |
T |
A |
4: 121,006,680 (GRCm39) |
I877L |
probably benign |
Het |
| Scgb2b2 |
T |
C |
7: 31,003,001 (GRCm39) |
L32S |
possibly damaging |
Het |
| Sfpq |
T |
A |
4: 126,915,926 (GRCm39) |
H239Q |
unknown |
Het |
| St6gal2 |
A |
T |
17: 55,789,111 (GRCm39) |
R48S |
probably benign |
Het |
| Sybu |
T |
C |
15: 44,536,355 (GRCm39) |
D657G |
possibly damaging |
Het |
| Syt15 |
A |
G |
14: 33,944,950 (GRCm39) |
I166V |
probably benign |
Het |
| Taar7f |
C |
A |
10: 23,925,478 (GRCm39) |
T24K |
probably benign |
Het |
| Tbcd |
T |
C |
11: 121,499,474 (GRCm39) |
S1093P |
probably damaging |
Het |
| Tnxb |
C |
T |
17: 34,911,329 (GRCm39) |
T1544I |
possibly damaging |
Het |
| Trim28 |
A |
G |
7: 12,762,341 (GRCm39) |
T322A |
probably damaging |
Het |
| Tubgcp3 |
G |
A |
8: 12,707,626 (GRCm39) |
A121V |
possibly damaging |
Het |
| Vmn2r14 |
A |
T |
5: 109,372,431 (GRCm39) |
W20R |
probably null |
Het |
| Zfp551 |
A |
G |
7: 12,149,943 (GRCm39) |
F489L |
possibly 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 |
|
IGL02986:Tfap2c
|
APN |
2 |
172,399,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTAATCCCTGGCCTGGCATAG -3'
(R):5'- TAATTCTGCACTGCGGAGAC -3'
Sequencing Primer
(F):5'- GCTTGCCTGGCATACATGTAAAC -3'
(R):5'- AGACCGCCGCACAGATG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation