Incidental Mutation 'R4498:Tfap2c'
ID |
331683 |
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 |
041751-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4498 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
172391513-172400542 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 172399102 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 425
(Q425*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129922
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030391]
[ENSMUST00000099058]
[ENSMUST00000170744]
|
AlphaFold |
Q61312 |
Predicted Effect |
probably null
Transcript: ENSMUST00000030391
AA Change: Q386*
|
SMART Domains |
Protein: ENSMUSP00000030391 Gene: ENSMUSG00000028640 AA Change: Q386*
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 null
Transcript: ENSMUST00000099058
AA Change: Q450*
|
SMART Domains |
Protein: ENSMUSP00000096657 Gene: ENSMUSG00000028640 AA Change: Q450*
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 null
Transcript: ENSMUST00000170744
AA Change: Q425*
|
SMART Domains |
Protein: ENSMUSP00000129922 Gene: ENSMUSG00000028640 AA Change: Q425*
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: 97.2%
- 20x: 95.2%
|
Validation Efficiency |
91% (53/58) |
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aco2 |
G |
A |
15: 81,779,486 (GRCm39) |
A97T |
probably damaging |
Het |
Acot9 |
T |
A |
X: 154,047,064 (GRCm39) |
L18* |
probably null |
Het |
Arhgap12 |
A |
T |
18: 6,111,774 (GRCm39) |
C69S |
probably damaging |
Het |
Ccdc17 |
G |
T |
4: 116,454,438 (GRCm39) |
|
probably benign |
Het |
Ctnnd2 |
A |
C |
15: 30,620,020 (GRCm39) |
D124A |
probably damaging |
Het |
Cux1 |
T |
C |
5: 136,341,847 (GRCm39) |
N424S |
probably damaging |
Het |
Dhrs7c |
T |
C |
11: 67,706,706 (GRCm39) |
F214S |
possibly damaging |
Het |
Fat2 |
T |
C |
11: 55,160,923 (GRCm39) |
D3269G |
possibly damaging |
Het |
Fhod3 |
T |
A |
18: 25,243,296 (GRCm39) |
|
probably null |
Het |
Glul |
G |
T |
1: 153,782,849 (GRCm39) |
G187* |
probably null |
Het |
Gnmt |
ATTAGGGGATGGTCTTAGGG |
ATTAGGG |
17: 47,036,662 (GRCm39) |
294 |
probably benign |
Het |
H2-Q7 |
A |
T |
17: 35,658,506 (GRCm39) |
Y48F |
probably damaging |
Het |
Hes3 |
T |
C |
4: 152,371,542 (GRCm39) |
T136A |
probably benign |
Het |
Krt40 |
T |
C |
11: 99,433,900 (GRCm39) |
T29A |
possibly damaging |
Het |
Lrrc37a |
C |
A |
11: 103,392,624 (GRCm39) |
D934Y |
probably benign |
Het |
Mctp2 |
T |
A |
7: 71,833,599 (GRCm39) |
D581V |
probably damaging |
Het |
Med27 |
T |
C |
2: 29,361,354 (GRCm39) |
S38P |
probably damaging |
Het |
Mff |
A |
G |
1: 82,719,501 (GRCm39) |
|
probably benign |
Het |
Mmadhc |
T |
C |
2: 50,170,236 (GRCm39) |
K292R |
probably benign |
Het |
Mmp24 |
A |
G |
2: 155,655,908 (GRCm39) |
I449V |
possibly damaging |
Het |
Mthfd1 |
G |
T |
12: 76,361,764 (GRCm39) |
L123F |
probably damaging |
Het |
Mug2 |
T |
A |
6: 122,059,711 (GRCm39) |
L1363Q |
probably damaging |
Het |
Myh4 |
T |
C |
11: 67,142,578 (GRCm39) |
I913T |
probably damaging |
Het |
Myo16 |
T |
A |
8: 10,485,869 (GRCm39) |
N649K |
probably benign |
Het |
Myo7b |
A |
G |
18: 32,147,282 (GRCm39) |
I87T |
probably benign |
Het |
Ndst4 |
A |
G |
3: 125,232,007 (GRCm39) |
D192G |
probably damaging |
Het |
Nup155 |
A |
G |
15: 8,183,157 (GRCm39) |
D1239G |
possibly damaging |
Het |
Or5b21 |
T |
C |
19: 12,840,033 (GRCm39) |
V298A |
probably damaging |
Het |
Or7e173 |
G |
C |
9: 19,939,029 (GRCm39) |
N68K |
possibly damaging |
Het |
Phf10 |
T |
A |
17: 15,165,377 (GRCm39) |
N493I |
probably benign |
Het |
Pramel32 |
A |
T |
4: 88,547,129 (GRCm39) |
|
probably null |
Het |
Prr12 |
T |
C |
7: 44,695,338 (GRCm39) |
E1376G |
unknown |
Het |
Rasa3 |
T |
C |
8: 13,664,587 (GRCm39) |
H75R |
probably benign |
Het |
Rin3 |
G |
A |
12: 102,335,939 (GRCm39) |
V537M |
probably damaging |
Het |
Samd4 |
C |
T |
14: 47,333,566 (GRCm39) |
T272I |
probably damaging |
Het |
Septin5 |
C |
T |
16: 18,442,142 (GRCm39) |
G257D |
probably damaging |
Het |
Serpina6 |
T |
C |
12: 103,620,326 (GRCm39) |
K141R |
probably benign |
Het |
Siglecf |
T |
A |
7: 43,001,700 (GRCm39) |
I170N |
possibly damaging |
Het |
Spopl |
C |
T |
2: 23,407,957 (GRCm39) |
V241M |
probably damaging |
Het |
Stk40 |
G |
A |
4: 126,023,544 (GRCm39) |
|
probably null |
Het |
Syne1 |
A |
G |
10: 4,981,768 (GRCm39) |
S8700P |
probably benign |
Het |
Tbc1d4 |
C |
T |
14: 101,845,772 (GRCm39) |
G42E |
probably damaging |
Het |
Tmem255b |
T |
C |
8: 13,505,998 (GRCm39) |
S202P |
probably damaging |
Het |
Traf6 |
T |
C |
2: 101,514,891 (GRCm39) |
S16P |
probably benign |
Het |
Ttc12 |
A |
G |
9: 49,383,705 (GRCm39) |
I66T |
probably damaging |
Het |
Ttc21a |
G |
A |
9: 119,787,885 (GRCm39) |
D818N |
possibly damaging |
Het |
Zfp81 |
A |
T |
17: 33,553,677 (GRCm39) |
I379N |
possibly damaging |
Het |
Zgrf1 |
C |
A |
3: 127,379,749 (GRCm39) |
S211* |
probably null |
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 |
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 |
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'- AATGCTAAATTCTCCTTTCTGAGCC -3'
(R):5'- CCATCGTCTTGCTGGAATCAG -3'
Sequencing Primer
(F):5'- CTGAGCCTGCCTATCCTAATAG -3'
(R):5'- TGGAATCAGCCGGACTCTG -3'
|
Posted On |
2015-07-21 |