Incidental Mutation 'R9715:Tfap2b'
ID |
730370 |
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 |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9715 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
19279138-19308800 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 19284373 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 94
(S94P)
|
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: S94P
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000027059 Gene: ENSMUSG00000025927 AA Change: S94P
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 |
possibly damaging
Transcript: ENSMUST00000064976
AA Change: S76P
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000064488 Gene: ENSMUSG00000025927 AA Change: S76P
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: S94P
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000140213 Gene: ENSMUSG00000025927 AA Change: S94P
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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc6 |
C |
T |
7: 45,629,359 (GRCm39) |
V1323I |
probably damaging |
Het |
Adam20 |
G |
A |
8: 41,248,490 (GRCm39) |
R200H |
probably benign |
Het |
Ahnak |
GATCTCTAT |
GAT |
19: 8,984,393 (GRCm39) |
|
probably benign |
Het |
Cbr3 |
A |
G |
16: 93,481,941 (GRCm39) |
D99G |
probably benign |
Het |
Ccdc17 |
T |
A |
4: 116,455,090 (GRCm39) |
L215Q |
probably damaging |
Het |
Cep350 |
A |
G |
1: 155,751,107 (GRCm39) |
Y2022H |
probably benign |
Het |
Cimip2c |
G |
C |
5: 30,641,261 (GRCm39) |
D170H |
possibly damaging |
Het |
Cnbd2 |
T |
C |
2: 156,183,547 (GRCm39) |
S338P |
probably benign |
Het |
D5Ertd579e |
A |
T |
5: 36,787,029 (GRCm39) |
V113D |
possibly damaging |
Het |
Dhx30 |
A |
G |
9: 109,916,718 (GRCm39) |
F570S |
probably damaging |
Het |
Ephb1 |
T |
C |
9: 101,848,384 (GRCm39) |
N679S |
probably damaging |
Het |
Faxc |
T |
C |
4: 21,993,307 (GRCm39) |
I317T |
probably damaging |
Het |
Fgd5 |
T |
C |
6: 91,965,290 (GRCm39) |
Y508H |
possibly damaging |
Het |
Foxd2 |
G |
T |
4: 114,765,195 (GRCm39) |
A275E |
unknown |
Het |
Fut9 |
C |
A |
4: 25,620,679 (GRCm39) |
S45I |
probably benign |
Het |
Gm5148 |
T |
C |
3: 37,768,801 (GRCm39) |
N140D |
unknown |
Het |
Gpr37l1 |
C |
T |
1: 135,089,391 (GRCm39) |
G225S |
probably damaging |
Het |
Gramd1c |
G |
A |
16: 43,825,840 (GRCm39) |
S107L |
possibly damaging |
Het |
Gtpbp2 |
A |
G |
17: 46,478,301 (GRCm39) |
D483G |
|
Het |
Ik |
G |
A |
18: 36,886,566 (GRCm39) |
R346H |
probably benign |
Het |
Ino80e |
A |
T |
7: 126,461,098 (GRCm39) |
Y50N |
unknown |
Het |
Irag1 |
A |
T |
7: 110,470,640 (GRCm39) |
S898T |
possibly damaging |
Het |
Kbtbd2 |
A |
G |
6: 56,756,566 (GRCm39) |
V390A |
probably benign |
Het |
Limch1 |
A |
C |
5: 67,156,360 (GRCm39) |
N276H |
probably damaging |
Het |
Negr1 |
T |
G |
3: 156,774,936 (GRCm39) |
|
probably null |
Het |
Ngef |
G |
A |
1: 87,431,010 (GRCm39) |
P269L |
probably damaging |
Het |
Nlrp14 |
G |
A |
7: 106,781,626 (GRCm39) |
M274I |
probably benign |
Het |
Nr1d1 |
T |
C |
11: 98,662,943 (GRCm39) |
I17V |
probably benign |
Het |
Or10ad1b |
T |
A |
15: 98,124,902 (GRCm39) |
D210V |
probably damaging |
Het |
Or4k35 |
T |
C |
2: 111,100,623 (GRCm39) |
I30V |
probably benign |
Het |
Or5p64 |
A |
G |
7: 107,855,198 (GRCm39) |
I49T |
probably benign |
Het |
Ppip5k2 |
A |
G |
1: 97,677,312 (GRCm39) |
V334A |
|
Het |
Ppp1r9a |
G |
A |
6: 5,045,936 (GRCm39) |
V467I |
probably damaging |
Het |
Ppp2r2c |
A |
G |
5: 37,097,488 (GRCm39) |
I225V |
possibly damaging |
Het |
Ptpro |
A |
T |
6: 137,345,108 (GRCm39) |
N38I |
probably damaging |
Het |
Scn2a |
C |
A |
2: 65,579,149 (GRCm39) |
Q1495K |
possibly damaging |
Het |
Scn7a |
A |
T |
2: 66,519,902 (GRCm39) |
Y1001N |
possibly damaging |
Het |
Sfi1 |
ACA |
ACATCTTCCCAAAGCCAGTCA |
11: 3,103,382 (GRCm39) |
|
probably benign |
Het |
Sh3bgrl2 |
T |
A |
9: 83,430,513 (GRCm39) |
M1K |
probably null |
Het |
Slc25a12 |
C |
T |
2: 71,109,899 (GRCm39) |
V516M |
probably benign |
Het |
Sptbn4 |
A |
G |
7: 27,091,000 (GRCm39) |
L1402P |
probably damaging |
Het |
Styk1 |
CTCTTCATGATTTTCTT |
CTCTT |
6: 131,278,612 (GRCm39) |
|
probably benign |
Het |
Svop |
A |
G |
5: 114,198,169 (GRCm39) |
S135P |
probably benign |
Het |
Sycp2 |
G |
T |
2: 178,035,957 (GRCm39) |
D243E |
probably damaging |
Het |
Tcerg1 |
T |
C |
18: 42,706,413 (GRCm39) |
F1030S |
probably damaging |
Het |
Tecta |
T |
A |
9: 42,286,596 (GRCm39) |
N687Y |
probably damaging |
Het |
Tep1 |
A |
T |
14: 51,081,759 (GRCm39) |
H1230Q |
|
Het |
Tll2 |
C |
A |
19: 41,092,238 (GRCm39) |
G533V |
probably damaging |
Het |
Vmn2r55 |
A |
G |
7: 12,402,061 (GRCm39) |
V409A |
probably damaging |
Het |
Wdr41 |
A |
G |
13: 95,145,373 (GRCm39) |
E194G |
probably damaging |
Het |
Zan |
G |
T |
5: 137,398,817 (GRCm39) |
S4182R |
unknown |
Het |
Zfpl1 |
T |
C |
19: 6,134,074 (GRCm39) |
Y40C |
probably damaging |
Het |
Znrf3 |
C |
A |
11: 5,232,454 (GRCm39) |
R257L |
possibly 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 |
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 |
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'- TAGCTCGAGACTCTCTCAACTGG -3'
(R):5'- AATTACCTGCACGTCTTCCATG -3'
Sequencing Primer
(F):5'- GAGACTCTCTCAACTGGGCTCTG -3'
(R):5'- ACGTCTTCCATGCCGGGATG -3'
|
Posted On |
2022-10-06 |