Incidental Mutation 'R2474:Tfap2b'
| ID |
253249 |
| 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 |
040405-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2474 (G1)
|
| Quality Score |
131 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
19279138-19308800 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 19284599 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 169
(H169L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140213
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027059]
[ENSMUST00000064976]
[ENSMUST00000187754]
|
| AlphaFold |
Q61313 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027059
AA Change: H169L
PolyPhen 2
Score 0.481 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000027059
Gene: ENSMUSG00000025927
AA Change: H169L
| 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 benign
Transcript: ENSMUST00000064976
AA Change: H151L
PolyPhen 2
Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000064488
Gene: ENSMUSG00000025927
AA Change: H151L
| 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 |
noncoding transcript
Transcript: ENSMUST00000186972
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000187754
AA Change: H169L
PolyPhen 2
Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000140213
Gene: ENSMUSG00000025927
AA Change: H169L
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191068
|
| Meta Mutation Damage Score |
0.1783 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 94.9%
|
| Validation Efficiency |
100% (32/32) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl4 |
A |
G |
3: 151,248,361 (GRCm39) |
T678A |
probably benign |
Het |
| Asb7 |
A |
T |
7: 66,328,901 (GRCm39) |
N46K |
probably damaging |
Het |
| Atxn7l2 |
A |
C |
3: 108,111,293 (GRCm39) |
S414R |
probably damaging |
Het |
| Bckdk |
C |
A |
7: 127,504,590 (GRCm39) |
R105S |
probably damaging |
Het |
| Cxcl13 |
C |
T |
5: 96,107,816 (GRCm39) |
Q91* |
probably null |
Het |
| Dchs1 |
T |
C |
7: 105,404,281 (GRCm39) |
N2754D |
probably benign |
Het |
| Dchs1 |
A |
T |
7: 105,422,045 (GRCm39) |
V125E |
probably damaging |
Het |
| Enpep |
G |
C |
3: 129,077,807 (GRCm39) |
S603R |
possibly damaging |
Het |
| Greb1 |
T |
C |
12: 16,764,954 (GRCm39) |
N393S |
possibly damaging |
Het |
| Hfm1 |
A |
T |
5: 107,020,282 (GRCm39) |
V1048D |
possibly damaging |
Het |
| Ilvbl |
T |
C |
10: 78,412,558 (GRCm39) |
V93A |
probably damaging |
Het |
| Itpkb |
A |
G |
1: 180,161,716 (GRCm39) |
D614G |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Lgi3 |
G |
A |
14: 70,770,689 (GRCm39) |
|
probably null |
Het |
| Mpeg1 |
G |
A |
19: 12,439,613 (GRCm39) |
C357Y |
probably damaging |
Het |
| Nedd1 |
A |
G |
10: 92,555,465 (GRCm39) |
F7L |
probably damaging |
Het |
| Or8g26 |
A |
G |
9: 39,095,846 (GRCm39) |
D121G |
probably damaging |
Het |
| Or8k35 |
C |
A |
2: 86,424,957 (GRCm39) |
V72F |
probably benign |
Het |
| Parp8 |
A |
T |
13: 117,029,577 (GRCm39) |
C510S |
possibly damaging |
Het |
| Phb1 |
T |
C |
11: 95,562,248 (GRCm39) |
F42L |
possibly damaging |
Het |
| Pik3r1 |
A |
T |
13: 101,839,284 (GRCm39) |
Y189* |
probably null |
Het |
| Rps5 |
T |
A |
7: 12,660,488 (GRCm39) |
|
probably null |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Senp3 |
T |
A |
11: 69,564,923 (GRCm39) |
N516Y |
probably damaging |
Het |
| Tmem260 |
A |
G |
14: 48,733,781 (GRCm39) |
D226G |
probably null |
Het |
| Ttc6 |
G |
T |
12: 57,622,713 (GRCm39) |
R37S |
probably benign |
Het |
| Vmn2r84 |
A |
T |
10: 130,222,392 (GRCm39) |
D609E |
possibly damaging |
Het |
| Vmn2r99 |
A |
T |
17: 19,598,891 (GRCm39) |
M192L |
probably benign |
Het |
| Zfp746 |
T |
C |
6: 48,041,703 (GRCm39) |
D341G |
probably damaging |
Het |
| Zfp941 |
A |
T |
7: 140,391,384 (GRCm39) |
H658Q |
probably damaging |
Het |
| Zw10 |
T |
A |
9: 48,978,105 (GRCm39) |
I351N |
probably damaging |
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 |
|
R5019:Tfap2b
|
UTSW |
1 |
19,296,666 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5300:Tfap2b
|
UTSW |
1 |
19,298,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- GTACTCCCACGTCAACGATC -3'
(R):5'- GGTCCGGTTCTAAAGATGACAAC -3'
Sequencing Primer
(F):5'- TGAACCCTCTGCATCAGCC -3'
(R):5'- AAGACCAGGCCGCCCCTCCTCCTTT -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation