Incidental Mutation 'R5300:Tfap2b'
ID |
405593 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tfap2b
|
Ensembl Gene |
ENSMUSG00000025927 |
Gene Name |
transcription factor AP-2 beta |
Synonyms |
Tcfap2b, E130018K07Rik, AP-2(beta) |
MMRRC Submission |
042883-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5300 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
19279138-19308800 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 19298677 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 278
(K278R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140213
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027059]
[ENSMUST00000064976]
[ENSMUST00000187754]
|
AlphaFold |
Q61313 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027059
AA Change: K278R
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000027059 Gene: ENSMUSG00000025927 AA Change: K278R
Domain | Start | End | E-Value | Type |
low complexity region
|
61 |
83 |
N/A |
INTRINSIC |
low complexity region
|
121 |
132 |
N/A |
INTRINSIC |
low complexity region
|
196 |
210 |
N/A |
INTRINSIC |
Pfam:TF_AP-2
|
228 |
428 |
7.1e-94 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000064976
AA Change: K260R
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000064488 Gene: ENSMUSG00000025927 AA Change: K260R
Domain | Start | End | E-Value | Type |
low complexity region
|
43 |
65 |
N/A |
INTRINSIC |
low complexity region
|
103 |
114 |
N/A |
INTRINSIC |
low complexity region
|
178 |
192 |
N/A |
INTRINSIC |
Pfam:TF_AP-2
|
208 |
415 |
2.2e-100 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000187754
AA Change: K278R
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000140213 Gene: ENSMUSG00000025927 AA Change: K278R
Domain | Start | End | E-Value | Type |
low complexity region
|
61 |
83 |
N/A |
INTRINSIC |
low complexity region
|
121 |
132 |
N/A |
INTRINSIC |
low complexity region
|
196 |
210 |
N/A |
INTRINSIC |
Pfam:TF_AP-2
|
226 |
433 |
2.2e-101 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.6%
- 20x: 93.1%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the AP-2 family of transcription factors. AP-2 proteins form homo- or hetero-dimers with other AP-2 family members and bind specific DNA sequences. They are thought to stimulate cell proliferation and suppress terminal differentiation of specific cell types during embryonic development. Specific AP-2 family members differ in their expression patterns and binding affinity for different promoters. This protein functions as both a transcriptional activator and repressor. Mutations in this gene result in autosomal dominant Char syndrome, suggesting that this gene functions in the differentiation of neural crest cell derivatives. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygotes have kidney cysts and show neonatal or postnatal lethality, depending on strain background. On a congenic 129P2 background, mice have tremors, polydactyly, defective tubular secretory function and ion homeostasis, hypocalcemia, hyperphosphatemia, hyperuremia, and terminal renal failure. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ank1 |
A |
G |
8: 23,622,517 (GRCm39) |
K1644E |
probably benign |
Het |
C7 |
C |
A |
15: 5,061,432 (GRCm39) |
G306W |
probably damaging |
Het |
Ccdc185 |
A |
G |
1: 182,575,645 (GRCm39) |
V348A |
probably benign |
Het |
Cfap58 |
A |
T |
19: 47,929,595 (GRCm39) |
I19F |
probably benign |
Het |
Dnaaf2 |
C |
G |
12: 69,245,002 (GRCm39) |
V20L |
probably damaging |
Het |
Dpy19l3 |
A |
G |
7: 35,426,735 (GRCm39) |
Y58H |
probably damaging |
Het |
Dsc1 |
T |
C |
18: 20,227,917 (GRCm39) |
S480G |
probably damaging |
Het |
Eno4 |
G |
A |
19: 58,943,982 (GRCm39) |
|
probably null |
Het |
Gm136 |
T |
G |
4: 34,750,930 (GRCm39) |
K114N |
probably damaging |
Het |
Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
Lrrc37a |
T |
A |
11: 103,347,784 (GRCm39) |
L2970F |
unknown |
Het |
Ly86 |
C |
T |
13: 37,602,588 (GRCm39) |
T160I |
probably benign |
Het |
Mfsd4b1 |
A |
C |
10: 39,879,027 (GRCm39) |
F290C |
probably benign |
Het |
Minar1 |
A |
T |
9: 89,485,252 (GRCm39) |
S48R |
probably damaging |
Het |
Nbeal1 |
T |
G |
1: 60,274,718 (GRCm39) |
Y376* |
probably null |
Het |
Nipbl |
A |
T |
15: 8,380,981 (GRCm39) |
S604T |
probably benign |
Het |
Pml |
A |
C |
9: 58,154,302 (GRCm39) |
N190K |
probably damaging |
Het |
Rin3 |
C |
A |
12: 102,335,929 (GRCm39) |
F533L |
probably benign |
Het |
Scamp1 |
A |
G |
13: 94,340,670 (GRCm39) |
V233A |
probably damaging |
Het |
Sppl2c |
A |
T |
11: 104,077,901 (GRCm39) |
N234Y |
possibly damaging |
Het |
Tg |
A |
G |
15: 66,550,704 (GRCm39) |
Y278C |
probably damaging |
Het |
Trdn |
A |
G |
10: 33,071,978 (GRCm39) |
E215G |
probably damaging |
Het |
Tssk6 |
T |
C |
8: 70,355,285 (GRCm39) |
S110P |
probably benign |
Het |
Vmn2r15 |
A |
T |
5: 109,441,974 (GRCm39) |
L153Q |
probably damaging |
Het |
Wdr17 |
C |
T |
8: 55,134,434 (GRCm39) |
G349R |
probably damaging |
Het |
Zfp667 |
A |
G |
7: 6,307,635 (GRCm39) |
H101R |
probably benign |
Het |
Zfp772 |
A |
T |
7: 7,207,157 (GRCm39) |
M178K |
probably benign |
Het |
|
Other mutations in Tfap2b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00504:Tfap2b
|
APN |
1 |
19,284,250 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL01868:Tfap2b
|
APN |
1 |
19,284,506 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02408:Tfap2b
|
APN |
1 |
19,304,485 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02412:Tfap2b
|
APN |
1 |
19,289,427 (GRCm39) |
missense |
probably damaging |
0.99 |
R0243:Tfap2b
|
UTSW |
1 |
19,304,347 (GRCm39) |
missense |
probably damaging |
1.00 |
R0552:Tfap2b
|
UTSW |
1 |
19,304,449 (GRCm39) |
missense |
probably damaging |
1.00 |
R1077:Tfap2b
|
UTSW |
1 |
19,304,373 (GRCm39) |
nonsense |
probably null |
|
R1541:Tfap2b
|
UTSW |
1 |
19,304,294 (GRCm39) |
missense |
probably damaging |
1.00 |
R1816:Tfap2b
|
UTSW |
1 |
19,279,436 (GRCm39) |
missense |
probably damaging |
0.98 |
R2474:Tfap2b
|
UTSW |
1 |
19,284,599 (GRCm39) |
missense |
possibly damaging |
0.49 |
R5019:Tfap2b
|
UTSW |
1 |
19,296,666 (GRCm39) |
missense |
probably benign |
0.31 |
R5331:Tfap2b
|
UTSW |
1 |
19,296,722 (GRCm39) |
missense |
probably benign |
|
R5383:Tfap2b
|
UTSW |
1 |
19,296,722 (GRCm39) |
missense |
probably benign |
|
R5541:Tfap2b
|
UTSW |
1 |
19,284,250 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5744:Tfap2b
|
UTSW |
1 |
19,289,445 (GRCm39) |
missense |
probably benign |
0.15 |
R7239:Tfap2b
|
UTSW |
1 |
19,304,404 (GRCm39) |
missense |
probably damaging |
1.00 |
R7684:Tfap2b
|
UTSW |
1 |
19,284,511 (GRCm39) |
missense |
probably damaging |
1.00 |
R7686:Tfap2b
|
UTSW |
1 |
19,284,511 (GRCm39) |
missense |
probably damaging |
1.00 |
R7775:Tfap2b
|
UTSW |
1 |
19,304,531 (GRCm39) |
missense |
probably damaging |
0.98 |
R7778:Tfap2b
|
UTSW |
1 |
19,304,531 (GRCm39) |
missense |
probably damaging |
0.98 |
R7824:Tfap2b
|
UTSW |
1 |
19,304,531 (GRCm39) |
missense |
probably damaging |
0.98 |
R8305:Tfap2b
|
UTSW |
1 |
19,296,660 (GRCm39) |
missense |
possibly damaging |
0.80 |
R8816:Tfap2b
|
UTSW |
1 |
19,284,337 (GRCm39) |
missense |
probably benign |
0.00 |
R9040:Tfap2b
|
UTSW |
1 |
19,304,314 (GRCm39) |
missense |
probably damaging |
1.00 |
R9223:Tfap2b
|
UTSW |
1 |
19,282,649 (GRCm39) |
critical splice donor site |
probably null |
|
R9629:Tfap2b
|
UTSW |
1 |
19,289,468 (GRCm39) |
missense |
probably damaging |
1.00 |
R9715:Tfap2b
|
UTSW |
1 |
19,284,373 (GRCm39) |
missense |
probably damaging |
0.96 |
X0026:Tfap2b
|
UTSW |
1 |
19,296,774 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Tfap2b
|
UTSW |
1 |
19,304,357 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTGGATCCACTGCCCTAAC -3'
(R):5'- AAAAGGTCAGACTCCAGTGG -3'
Sequencing Primer
(F):5'- ACAAGACTTACTTTCCAATGTCCTG -3'
(R):5'- GTCAGACTCCAGTGGACACTTAAG -3'
|
Posted On |
2016-07-22 |