Incidental Mutation 'IGL02412:Tfap2b'
ID |
294409 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tfap2b
|
Ensembl Gene |
ENSMUSG00000025927 |
Gene Name |
transcription factor AP-2 beta |
Synonyms |
Tcfap2b, E130018K07Rik, AP-2(beta) |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02412
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
19279138-19308800 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 19289427 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 166
(D166V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000064488
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027059]
[ENSMUST00000064976]
[ENSMUST00000187754]
|
AlphaFold |
Q61313 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027059
AA Change: D184V
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000027059 Gene: ENSMUSG00000025927 AA Change: D184V
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: D166V
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000064488 Gene: ENSMUSG00000025927 AA Change: D166V
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 |
probably damaging
Transcript: ENSMUST00000187754
AA Change: D184V
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000140213 Gene: ENSMUSG00000025927 AA Change: D184V
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
|
Coding Region Coverage |
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alms1 |
T |
A |
6: 85,605,854 (GRCm39) |
F2032L |
possibly damaging |
Het |
Caps2 |
T |
C |
10: 112,039,941 (GRCm39) |
|
probably null |
Het |
Ccdc88b |
A |
T |
19: 6,824,012 (GRCm39) |
F1414I |
probably damaging |
Het |
Cr1l |
T |
G |
1: 194,797,080 (GRCm39) |
Y319S |
probably damaging |
Het |
Cr1l |
C |
T |
1: 194,797,074 (GRCm39) |
G283E |
probably damaging |
Het |
Csmd2 |
G |
A |
4: 128,407,165 (GRCm39) |
|
probably benign |
Het |
Dhx37 |
T |
A |
5: 125,508,692 (GRCm39) |
K81M |
probably damaging |
Het |
Dzip3 |
T |
A |
16: 48,778,820 (GRCm39) |
M326L |
probably benign |
Het |
Exosc10 |
A |
G |
4: 148,652,849 (GRCm39) |
D488G |
probably benign |
Het |
Gm2058 |
G |
A |
7: 39,238,457 (GRCm39) |
|
noncoding transcript |
Het |
Gm43638 |
T |
A |
5: 87,633,995 (GRCm39) |
Q204L |
possibly damaging |
Het |
Gm4847 |
T |
C |
1: 166,469,307 (GRCm39) |
D119G |
probably damaging |
Het |
Gnb3 |
A |
C |
6: 124,814,425 (GRCm39) |
M120R |
probably benign |
Het |
Il16 |
A |
C |
7: 83,301,899 (GRCm39) |
D74E |
probably benign |
Het |
Kpna1 |
T |
C |
16: 35,851,561 (GRCm39) |
F382L |
probably benign |
Het |
Krt33a |
G |
T |
11: 99,902,805 (GRCm39) |
Q340K |
probably benign |
Het |
Lrrc17 |
T |
A |
5: 21,765,877 (GRCm39) |
S120T |
possibly damaging |
Het |
Mapk3 |
C |
A |
7: 126,362,210 (GRCm39) |
Y56* |
probably null |
Het |
Mfhas1 |
C |
T |
8: 36,055,969 (GRCm39) |
A148V |
probably benign |
Het |
Npr2 |
A |
G |
4: 43,647,005 (GRCm39) |
I713V |
probably damaging |
Het |
Obp1a |
T |
A |
X: 77,131,980 (GRCm39) |
Y108F |
probably damaging |
Het |
Or51f1d |
A |
T |
7: 102,701,359 (GRCm39) |
M285L |
probably benign |
Het |
Or5ac21 |
T |
A |
16: 59,123,555 (GRCm39) |
L13H |
probably damaging |
Het |
Or6n1 |
T |
C |
1: 173,916,809 (GRCm39) |
F68L |
probably benign |
Het |
Or7e178 |
T |
A |
9: 20,225,935 (GRCm39) |
S86C |
probably benign |
Het |
Pias1 |
A |
T |
9: 62,800,421 (GRCm39) |
N430K |
probably benign |
Het |
Ralgapa2 |
G |
T |
2: 146,254,052 (GRCm39) |
A836D |
probably damaging |
Het |
Rftn2 |
T |
C |
1: 55,245,497 (GRCm39) |
E238G |
probably benign |
Het |
Samt4 |
T |
G |
X: 153,267,118 (GRCm39) |
S86A |
probably damaging |
Het |
Setd2 |
T |
C |
9: 110,379,842 (GRCm39) |
M1219T |
probably benign |
Het |
Sh3pxd2b |
T |
A |
11: 32,337,992 (GRCm39) |
D99E |
probably damaging |
Het |
Sh3rf1 |
A |
T |
8: 61,825,723 (GRCm39) |
T573S |
probably benign |
Het |
Sugct |
A |
G |
13: 17,837,386 (GRCm39) |
W82R |
probably damaging |
Het |
Syt4 |
T |
G |
18: 31,576,896 (GRCm39) |
K153Q |
probably benign |
Het |
Tbrg1 |
T |
C |
9: 37,563,908 (GRCm39) |
|
probably null |
Het |
Tex36 |
C |
T |
7: 133,189,137 (GRCm39) |
R145K |
probably benign |
Het |
Trhde |
T |
C |
10: 114,322,830 (GRCm39) |
Y694C |
probably damaging |
Het |
Trpc1 |
G |
A |
9: 95,618,914 (GRCm39) |
L146F |
probably damaging |
Het |
Ttc29 |
G |
A |
8: 79,003,569 (GRCm39) |
E262K |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,547,293 (GRCm39) |
I32251N |
probably damaging |
Het |
Ttn |
G |
T |
2: 76,612,691 (GRCm39) |
D17129E |
probably benign |
Het |
Ucma |
T |
A |
2: 4,981,636 (GRCm39) |
I47N |
probably damaging |
Het |
Vmn1r13 |
A |
T |
6: 57,187,474 (GRCm39) |
K211M |
possibly damaging |
Het |
Vmn2r95 |
A |
C |
17: 18,660,218 (GRCm39) |
H210P |
probably damaging |
Het |
Xpc |
T |
C |
6: 91,476,767 (GRCm39) |
E444G |
probably benign |
Het |
Yy1 |
T |
C |
12: 108,760,023 (GRCm39) |
|
probably benign |
Het |
Zfp217 |
A |
G |
2: 169,954,422 (GRCm39) |
|
probably benign |
Het |
Zfp318 |
T |
A |
17: 46,720,043 (GRCm39) |
Y1080* |
probably null |
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 |
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 |
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 |
|
Posted On |
2015-04-16 |