Incidental Mutation 'IGL01868:Tfap2b'
| ID |
178610 |
| 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 # |
IGL01868
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
19279138-19308800 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 19284506 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 138
(R138L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027059
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027059]
[ENSMUST00000064976]
[ENSMUST00000187754]
|
| AlphaFold |
Q61313 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027059
AA Change: R138L
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000027059
Gene: ENSMUSG00000025927
AA Change: R138L
| 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: R120L
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000064488
Gene: ENSMUSG00000025927
AA Change: R120L
| 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: R138L
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000140213
Gene: ENSMUSG00000025927
AA Change: R138L
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afg3l2 |
G |
A |
18: 67,547,218 (GRCm39) |
T569M |
possibly damaging |
Het |
| Aldh1l1 |
A |
T |
6: 90,560,212 (GRCm39) |
K620* |
probably null |
Het |
| Amdhd2 |
G |
T |
17: 24,376,504 (GRCm39) |
T346K |
probably damaging |
Het |
| Arhgap44 |
T |
C |
11: 64,902,904 (GRCm39) |
D521G |
probably damaging |
Het |
| Ccdc146 |
C |
A |
5: 21,538,052 (GRCm39) |
A91S |
probably damaging |
Het |
| Ccdc187 |
C |
A |
2: 26,170,960 (GRCm39) |
R506L |
probably benign |
Het |
| Cd37 |
T |
C |
7: 44,885,603 (GRCm39) |
Q128R |
probably benign |
Het |
| Cdh22 |
T |
A |
2: 164,999,278 (GRCm39) |
M185L |
probably damaging |
Het |
| Cib2 |
A |
T |
9: 54,455,759 (GRCm39) |
N68K |
probably damaging |
Het |
| Ddx46 |
C |
T |
13: 55,787,683 (GRCm39) |
R96* |
probably null |
Het |
| Dnajc13 |
A |
T |
9: 104,039,944 (GRCm39) |
H2050Q |
possibly damaging |
Het |
| Drgx |
C |
A |
14: 32,330,334 (GRCm39) |
F150L |
probably damaging |
Het |
| Duox1 |
A |
G |
2: 122,168,888 (GRCm39) |
H1172R |
probably benign |
Het |
| Eftud2 |
C |
T |
11: 102,759,953 (GRCm39) |
V132I |
probably benign |
Het |
| Fcrl5 |
G |
A |
3: 87,351,014 (GRCm39) |
D87N |
possibly damaging |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm5862 |
A |
C |
5: 26,227,769 (GRCm39) |
W41G |
probably benign |
Het |
| Kat6a |
T |
C |
8: 23,416,471 (GRCm39) |
F660L |
probably damaging |
Het |
| Lipo2 |
T |
C |
19: 33,708,238 (GRCm39) |
M259V |
probably benign |
Het |
| Lrrcc1 |
T |
A |
3: 14,619,417 (GRCm39) |
L90* |
probably null |
Het |
| Lsm1 |
G |
A |
8: 26,283,821 (GRCm39) |
|
probably null |
Het |
| Luzp1 |
T |
C |
4: 136,270,048 (GRCm39) |
I757T |
probably damaging |
Het |
| Micall1 |
A |
G |
15: 78,999,260 (GRCm39) |
I76V |
probably benign |
Het |
| Mmp21 |
A |
T |
7: 133,277,643 (GRCm39) |
D394E |
probably damaging |
Het |
| Mtfr1l |
T |
C |
4: 134,258,018 (GRCm39) |
D68G |
probably null |
Het |
| Necab2 |
A |
G |
8: 120,189,315 (GRCm39) |
S162G |
probably benign |
Het |
| Or11a4 |
A |
T |
17: 37,536,043 (GRCm39) |
Q9L |
probably benign |
Het |
| Or4c100 |
T |
C |
2: 88,356,059 (GRCm39) |
V44A |
possibly damaging |
Het |
| Or51b17 |
G |
A |
7: 103,542,583 (GRCm39) |
R120* |
probably null |
Het |
| Or6n1 |
C |
T |
1: 173,916,936 (GRCm39) |
T110I |
possibly damaging |
Het |
| Pde7b |
A |
T |
10: 20,282,911 (GRCm39) |
C376* |
probably null |
Het |
| Pira12 |
G |
A |
7: 3,900,174 (GRCm39) |
Q143* |
probably null |
Het |
| Plcb2 |
A |
G |
2: 118,540,071 (GRCm39) |
L1074P |
probably damaging |
Het |
| Plcb2 |
G |
T |
2: 118,541,868 (GRCm39) |
T914N |
probably benign |
Het |
| Prph |
C |
A |
15: 98,954,224 (GRCm39) |
D207E |
probably damaging |
Het |
| Rbp4 |
C |
A |
19: 38,112,968 (GRCm39) |
R37L |
probably damaging |
Het |
| Ryr3 |
T |
C |
2: 112,633,503 (GRCm39) |
|
probably benign |
Het |
| Sardh |
T |
G |
2: 27,117,159 (GRCm39) |
Q496P |
probably benign |
Het |
| Serpina1f |
T |
A |
12: 103,659,704 (GRCm39) |
N193Y |
probably benign |
Het |
| Slc10a7 |
G |
A |
8: 79,423,965 (GRCm39) |
|
probably null |
Het |
| Spg7 |
T |
C |
8: 123,816,975 (GRCm39) |
|
probably null |
Het |
| Sphkap |
T |
C |
1: 83,258,120 (GRCm39) |
|
probably null |
Het |
| Tas2r121 |
T |
A |
6: 132,677,235 (GRCm39) |
I246L |
probably benign |
Het |
| Tbc1d9b |
T |
C |
11: 50,052,460 (GRCm39) |
F889S |
probably damaging |
Het |
| Tcp10a |
T |
C |
17: 7,597,263 (GRCm39) |
M140T |
possibly damaging |
Het |
| Tctn2 |
G |
A |
5: 124,754,591 (GRCm39) |
|
noncoding transcript |
Het |
| Tnrc18 |
T |
C |
5: 142,757,567 (GRCm39) |
T985A |
unknown |
Het |
| Treml1 |
G |
A |
17: 48,673,035 (GRCm39) |
V211I |
probably benign |
Het |
| Ubr4 |
C |
T |
4: 139,139,989 (GRCm39) |
Q1191* |
probably null |
Het |
| Vim |
G |
A |
2: 13,583,249 (GRCm39) |
R217H |
possibly damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r77 |
A |
G |
7: 86,452,224 (GRCm39) |
D468G |
probably benign |
Het |
| Vmn2r98 |
G |
T |
17: 19,286,548 (GRCm39) |
V349F |
probably benign |
Het |
| Vwa7 |
A |
T |
17: 35,240,235 (GRCm39) |
E401V |
probably null |
Het |
| Zfp119b |
C |
A |
17: 56,246,866 (GRCm39) |
V75L |
possibly damaging |
Het |
| Zfp287 |
C |
T |
11: 62,606,083 (GRCm39) |
E275K |
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 |
|
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 |
|
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 |
2014-05-07 |
Incidental Mutation