Incidental Mutation 'R4038:Tfap2c'
ID |
313784 |
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 |
040965-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4038 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
172391513-172400542 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 172398110 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Cysteine
at position 413
(S413C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096657
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030391]
[ENSMUST00000099058]
[ENSMUST00000170744]
|
AlphaFold |
Q61312 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030391
AA Change: S349C
PolyPhen 2
Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000030391 Gene: ENSMUSG00000028640 AA Change: S349C
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: S413C
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000096657 Gene: ENSMUSG00000028640 AA Change: S413C
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: S388C
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000129922 Gene: ENSMUSG00000028640 AA Change: S388C
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 |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.1%
|
Validation Efficiency |
93% (39/42) |
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ate1 |
A |
G |
7: 130,106,495 (GRCm39) |
S282P |
probably damaging |
Het |
Cacna1d |
T |
A |
14: 29,788,040 (GRCm39) |
Q1610L |
probably damaging |
Het |
Carmil2 |
C |
A |
8: 106,422,039 (GRCm39) |
R1103S |
probably damaging |
Het |
Clca3a1 |
T |
A |
3: 144,460,994 (GRCm39) |
Y219F |
probably benign |
Het |
Creb3l3 |
A |
G |
10: 80,925,172 (GRCm39) |
V224A |
probably benign |
Het |
Crnkl1 |
T |
A |
2: 145,774,247 (GRCm39) |
D72V |
possibly damaging |
Het |
Dhcr24 |
T |
C |
4: 106,431,075 (GRCm39) |
F255L |
probably benign |
Het |
Eef2kmt |
A |
T |
16: 5,063,135 (GRCm39) |
V335D |
probably damaging |
Het |
Elp2 |
T |
A |
18: 24,767,405 (GRCm39) |
W696R |
probably damaging |
Het |
Glb1l3 |
A |
C |
9: 26,740,343 (GRCm39) |
M329R |
probably damaging |
Het |
Gm4787 |
A |
T |
12: 81,425,132 (GRCm39) |
F342Y |
probably damaging |
Het |
Gpr137c |
C |
A |
14: 45,457,687 (GRCm39) |
L80I |
probably damaging |
Het |
Gpr83 |
A |
G |
9: 14,772,073 (GRCm39) |
I82V |
possibly damaging |
Het |
Greb1l |
C |
T |
18: 10,515,209 (GRCm39) |
T558I |
possibly damaging |
Het |
Hnrnpul2 |
T |
A |
19: 8,800,591 (GRCm39) |
|
probably benign |
Het |
Hspa2 |
T |
C |
12: 76,452,542 (GRCm39) |
V412A |
probably damaging |
Het |
Iqcd |
T |
C |
5: 120,740,587 (GRCm39) |
V306A |
probably damaging |
Het |
Lmod3 |
T |
C |
6: 97,225,275 (GRCm39) |
N182S |
probably benign |
Het |
Metrn |
T |
C |
17: 26,013,984 (GRCm39) |
T281A |
probably benign |
Het |
Mid1-ps1 |
G |
A |
Y: 90,773,563 (GRCm39) |
|
noncoding transcript |
Het |
Mmachc |
T |
A |
4: 116,563,215 (GRCm39) |
T47S |
probably damaging |
Het |
Nfia |
C |
A |
4: 97,909,074 (GRCm39) |
R277S |
probably damaging |
Het |
Or9m2 |
T |
A |
2: 87,821,262 (GRCm39) |
I269N |
possibly damaging |
Het |
Pcdha8 |
T |
C |
18: 37,125,914 (GRCm39) |
M132T |
probably benign |
Het |
Prkaa2 |
T |
C |
4: 104,908,444 (GRCm39) |
N144D |
probably damaging |
Het |
Ptprf |
C |
T |
4: 118,114,805 (GRCm39) |
R150H |
probably damaging |
Het |
Sfmbt1 |
T |
G |
14: 30,509,449 (GRCm39) |
D309E |
probably damaging |
Het |
Skint5 |
G |
T |
4: 113,743,011 (GRCm39) |
T352K |
unknown |
Het |
Slc16a10 |
G |
C |
10: 39,932,620 (GRCm39) |
H314D |
possibly damaging |
Het |
Slc28a2 |
C |
A |
2: 122,284,996 (GRCm39) |
A328E |
probably benign |
Het |
Ssc4d |
C |
A |
5: 135,999,170 (GRCm39) |
W11L |
possibly damaging |
Het |
Sycp2 |
C |
A |
2: 178,022,720 (GRCm39) |
M470I |
possibly damaging |
Het |
Unc13c |
A |
G |
9: 73,441,188 (GRCm39) |
|
probably null |
Het |
Vmn1r218 |
T |
C |
13: 23,320,971 (GRCm39) |
V26A |
possibly damaging |
Het |
Wipf3 |
G |
A |
6: 54,458,813 (GRCm39) |
G56D |
probably damaging |
Het |
Wiz |
T |
C |
17: 32,578,198 (GRCm39) |
E429G |
probably damaging |
Het |
Zer1 |
T |
C |
2: 29,997,535 (GRCm39) |
N457S |
probably damaging |
Het |
Zfp931 |
T |
A |
2: 177,709,777 (GRCm39) |
Q203L |
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 |
R3120:Tfap2c
|
UTSW |
2 |
172,399,015 (GRCm39) |
missense |
possibly 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'- CAGGCATGTGTCCATACGTG -3'
(R):5'- TGGTGTTAGCAGGCCCCTC -3'
Sequencing Primer
(F):5'- CGCAGGAACAAAGTAACCTTGCTG -3'
(R):5'- TCGCCACCTGGGATGGAG -3'
|
Posted On |
2015-04-30 |