Incidental Mutation 'R5541:Tfap2b'
ID |
435937 |
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 |
043099-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5541 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
19279138-19308800 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 19284250 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 35
(S35G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000064488
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027059]
[ENSMUST00000064976]
[ENSMUST00000187754]
|
AlphaFold |
Q61313 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027059
AA Change: S53G
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000027059 Gene: ENSMUSG00000025927 AA Change: S53G
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: S35G
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000064488 Gene: ENSMUSG00000025927 AA Change: S35G
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 benign
Transcript: ENSMUST00000187754
AA Change: S53G
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000140213 Gene: ENSMUSG00000025927 AA Change: S53G
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 |
0.0716 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.2%
|
Validation Efficiency |
100% (63/63) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700113H08Rik |
A |
G |
10: 87,061,808 (GRCm39) |
K86R |
probably benign |
Het |
Abca13 |
T |
C |
11: 9,241,545 (GRCm39) |
V1136A |
probably benign |
Het |
Arfgap2 |
G |
A |
2: 91,106,114 (GRCm39) |
R530H |
probably benign |
Het |
Arhgap30 |
T |
C |
1: 171,231,707 (GRCm39) |
|
probably null |
Het |
Asb7 |
T |
C |
7: 66,329,017 (GRCm39) |
R8G |
probably benign |
Het |
Bod1l |
T |
C |
5: 41,949,276 (GRCm39) |
N2949D |
probably benign |
Het |
Ccdc86 |
T |
C |
19: 10,925,918 (GRCm39) |
E227G |
probably damaging |
Het |
Cercam |
A |
G |
2: 29,765,641 (GRCm39) |
D261G |
probably benign |
Het |
Chd9 |
A |
T |
8: 91,778,132 (GRCm39) |
E2714D |
probably benign |
Het |
Dcp1a |
T |
A |
14: 30,224,796 (GRCm39) |
S126R |
probably damaging |
Het |
Defa17 |
T |
A |
8: 22,146,565 (GRCm39) |
C64S |
probably damaging |
Het |
Depdc5 |
A |
T |
5: 33,021,973 (GRCm39) |
|
probably benign |
Het |
Dhx29 |
A |
G |
13: 113,076,908 (GRCm39) |
N259S |
possibly damaging |
Het |
Dnah6 |
A |
T |
6: 73,169,971 (GRCm39) |
L323Q |
possibly damaging |
Het |
Dnah9 |
T |
C |
11: 66,036,162 (GRCm39) |
Y416C |
probably damaging |
Het |
Faap100 |
T |
A |
11: 120,268,458 (GRCm39) |
E105V |
possibly damaging |
Het |
Fbxw15 |
T |
G |
9: 109,394,498 (GRCm39) |
I106L |
probably benign |
Het |
Flacc1 |
A |
G |
1: 58,697,588 (GRCm39) |
M384T |
probably benign |
Het |
Gm10610 |
A |
G |
7: 83,198,614 (GRCm39) |
|
noncoding transcript |
Het |
Gpr22 |
A |
G |
12: 31,759,348 (GRCm39) |
F258S |
probably damaging |
Het |
Grip1 |
A |
T |
10: 119,908,623 (GRCm39) |
I618F |
probably damaging |
Het |
Hspg2 |
C |
T |
4: 137,247,862 (GRCm39) |
T1233I |
probably damaging |
Het |
Hspg2 |
C |
A |
4: 137,270,136 (GRCm39) |
Q2365K |
probably benign |
Het |
Intu |
A |
G |
3: 40,647,017 (GRCm39) |
|
probably null |
Het |
Kdm1b |
T |
C |
13: 47,232,672 (GRCm39) |
M714T |
probably damaging |
Het |
Kif21a |
A |
G |
15: 90,852,316 (GRCm39) |
M924T |
probably damaging |
Het |
Klb |
A |
T |
5: 65,536,577 (GRCm39) |
M636L |
probably benign |
Het |
Klrb1a |
G |
A |
6: 128,586,699 (GRCm39) |
H219Y |
probably benign |
Het |
Macroh2a2 |
T |
C |
10: 61,583,496 (GRCm39) |
I215V |
probably benign |
Het |
Marchf10 |
C |
T |
11: 105,280,957 (GRCm39) |
D443N |
probably damaging |
Het |
Nos1 |
A |
G |
5: 118,043,459 (GRCm39) |
E578G |
probably damaging |
Het |
Or8b39 |
T |
C |
9: 37,996,419 (GRCm39) |
C96R |
probably damaging |
Het |
Or9i1 |
T |
C |
19: 13,839,328 (GRCm39) |
I57T |
probably benign |
Het |
Pard3b |
A |
G |
1: 61,678,502 (GRCm39) |
Y34C |
probably damaging |
Het |
Pcdh17 |
T |
A |
14: 84,684,856 (GRCm39) |
V441E |
probably damaging |
Het |
Pde6g |
A |
T |
11: 120,338,998 (GRCm39) |
I64N |
probably damaging |
Het |
Pdia4 |
C |
T |
6: 47,773,571 (GRCm39) |
V593M |
probably damaging |
Het |
Pnn |
T |
G |
12: 59,118,716 (GRCm39) |
V433G |
possibly damaging |
Het |
Rbak |
G |
A |
5: 143,159,745 (GRCm39) |
S436F |
probably damaging |
Het |
Rpl11 |
A |
G |
4: 135,780,043 (GRCm39) |
|
probably benign |
Het |
Ryr1 |
G |
T |
7: 28,785,610 (GRCm39) |
Q1701K |
probably damaging |
Het |
Scn1a |
T |
A |
2: 66,154,977 (GRCm39) |
T661S |
probably benign |
Het |
Smg1 |
T |
A |
7: 117,756,386 (GRCm39) |
|
probably benign |
Het |
St8sia2 |
T |
C |
7: 73,616,648 (GRCm39) |
D109G |
probably benign |
Het |
Stk-ps1 |
T |
A |
17: 36,709,105 (GRCm39) |
|
noncoding transcript |
Het |
Stxbp3-ps |
C |
T |
19: 9,535,334 (GRCm39) |
|
noncoding transcript |
Het |
Taf1d |
T |
A |
9: 15,220,146 (GRCm39) |
F132I |
probably damaging |
Het |
Tnk2 |
C |
T |
16: 32,488,341 (GRCm39) |
T198I |
probably benign |
Het |
Trappc2b |
T |
C |
11: 51,576,796 (GRCm39) |
H34R |
probably benign |
Het |
Ube2q2 |
T |
A |
9: 55,099,163 (GRCm39) |
V168E |
possibly damaging |
Het |
Ucma |
A |
G |
2: 4,986,141 (GRCm39) |
R105G |
probably benign |
Het |
Vmn2r97 |
C |
T |
17: 19,148,617 (GRCm39) |
Q171* |
probably null |
Het |
Wapl |
T |
C |
14: 34,452,619 (GRCm39) |
|
probably null |
Het |
Zfand4 |
T |
A |
6: 116,291,256 (GRCm39) |
C397S |
possibly damaging |
Het |
Zfhx3 |
A |
G |
8: 109,675,583 (GRCm39) |
N2211S |
probably damaging |
Het |
Zfp143 |
G |
T |
7: 109,669,687 (GRCm39) |
G39C |
probably benign |
Het |
Zfp568 |
T |
A |
7: 29,722,301 (GRCm39) |
D414E |
possibly damaging |
Het |
Zfp574 |
C |
T |
7: 24,781,375 (GRCm39) |
A799V |
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 |
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 |
|
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'- AGAAACCCAACTTCTCTCCTCTC -3'
(R):5'- GAGCCCACTTCTTGGCGTT -3'
Sequencing Primer
(F):5'- ACCCAACTTCTCTCCTCTCTCCTC -3'
(R):5'- GTTGCCGTTGCCCCCAC -3'
|
Posted On |
2016-10-24 |