Incidental Mutation 'R0034:Klf12'
| ID |
15272 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klf12
|
| Ensembl Gene |
ENSMUSG00000072294 |
| Gene Name |
Kruppel-like transcription factor 12 |
| Synonyms |
AP-2rep, 2700063E05Rik, D530033K05Rik, B130052C06Rik |
| MMRRC Submission |
038328-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.449)
|
| Stock # |
R0034 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
100108068-100522115 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 100224865 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153901
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097079]
[ENSMUST00000228216]
|
| AlphaFold |
O35738 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000097079
|
| SMART Domains |
Protein: ENSMUSP00000094844
Gene: ENSMUSG00000072294
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
89 |
145 |
N/A |
INTRINSIC |
|
low complexity region
|
183 |
200 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
317 |
341 |
9.58e-3 |
SMART |
|
ZnF_C2H2
|
347 |
371 |
8.6e-5 |
SMART |
|
ZnF_C2H2
|
377 |
399 |
9.58e-3 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000228216
|
| Meta Mutation Damage Score |
0.9491 |
| Coding Region Coverage |
- 1x: 76.6%
- 3x: 64.3%
- 10x: 35.1%
- 20x: 16.8%
|
| Validation Efficiency |
87% (59/68) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Activator protein-2 alpha (AP-2 alpha) is a developmentally-regulated transcription factor and important regulator of gene expression during vertebrate development and carcinogenesis. The protein encoded by this gene is a member of the Kruppel-like zinc finger protein family and can repress expression of the AP-2 alpha gene by binding to a specific site in the AP-2 alpha gene promoter. Repression by the encoded protein requires binding with a corepressor, CtBP1. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
All alleles(49) : Targeted(1) Gene trapped(48)
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asns |
G |
A |
6: 7,676,299 (GRCm39) |
P419L |
probably damaging |
Het |
| Cep152 |
C |
T |
2: 125,425,813 (GRCm39) |
A851T |
probably benign |
Het |
| Chrna7 |
T |
G |
7: 62,798,354 (GRCm39) |
K109N |
possibly damaging |
Het |
| Dnaaf9 |
T |
C |
2: 130,578,492 (GRCm39) |
H664R |
probably damaging |
Het |
| Farp1 |
A |
G |
14: 121,492,841 (GRCm39) |
H481R |
probably benign |
Het |
| Kif9 |
G |
A |
9: 110,348,679 (GRCm39) |
C738Y |
probably benign |
Het |
| Ltbp1 |
T |
A |
17: 75,354,563 (GRCm39) |
|
probably benign |
Het |
| Map2k4 |
A |
G |
11: 65,610,437 (GRCm39) |
|
probably benign |
Het |
| Nat8f5 |
C |
A |
6: 85,794,868 (GRCm39) |
A31S |
probably benign |
Het |
| Plb1 |
G |
T |
5: 32,430,457 (GRCm39) |
G138V |
probably benign |
Het |
| Plcz1 |
A |
T |
6: 139,966,174 (GRCm39) |
|
probably benign |
Het |
| Poln |
A |
C |
5: 34,272,762 (GRCm39) |
V398G |
possibly damaging |
Het |
| Ppp2r2c |
A |
G |
5: 37,084,883 (GRCm39) |
I115V |
probably benign |
Het |
| Rapgef1 |
C |
A |
2: 29,614,780 (GRCm39) |
|
probably benign |
Het |
| Rbm43 |
A |
T |
2: 51,815,722 (GRCm39) |
D166E |
probably benign |
Het |
| Sgk3 |
T |
C |
1: 9,955,902 (GRCm39) |
V301A |
probably damaging |
Het |
| Trap1 |
A |
T |
16: 3,886,894 (GRCm39) |
|
probably benign |
Het |
| Trim14 |
A |
G |
4: 46,523,627 (GRCm39) |
L137P |
probably damaging |
Het |
| Tsku |
T |
C |
7: 98,001,870 (GRCm39) |
T154A |
possibly damaging |
Het |
| Usp50 |
T |
C |
2: 126,619,895 (GRCm39) |
E139G |
possibly damaging |
Het |
| Zfp949 |
A |
T |
9: 88,449,693 (GRCm39) |
|
probably benign |
Het |
| Zscan20 |
T |
C |
4: 128,479,455 (GRCm39) |
N1012S |
probably damaging |
Het |
|
| Other mutations in Klf12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01392:Klf12
|
APN |
14 |
100,387,193 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01407:Klf12
|
APN |
14 |
100,347,294 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL01621:Klf12
|
APN |
14 |
100,260,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02746:Klf12
|
APN |
14 |
100,137,656 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL02839:Klf12
|
APN |
14 |
100,137,675 (GRCm39) |
nonsense |
probably null |
|
|
R0034:Klf12
|
UTSW |
14 |
100,224,865 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0212:Klf12
|
UTSW |
14 |
100,260,298 (GRCm39) |
missense |
probably benign |
|
|
R0577:Klf12
|
UTSW |
14 |
100,260,585 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1980:Klf12
|
UTSW |
14 |
100,387,162 (GRCm39) |
splice site |
probably null |
|
|
R2017:Klf12
|
UTSW |
14 |
100,260,073 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2282:Klf12
|
UTSW |
14 |
100,137,581 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2317:Klf12
|
UTSW |
14 |
100,179,503 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2901:Klf12
|
UTSW |
14 |
100,137,582 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4946:Klf12
|
UTSW |
14 |
100,260,393 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5386:Klf12
|
UTSW |
14 |
100,137,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5802:Klf12
|
UTSW |
14 |
100,260,330 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5903:Klf12
|
UTSW |
14 |
100,260,124 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6037:Klf12
|
UTSW |
14 |
100,137,650 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6037:Klf12
|
UTSW |
14 |
100,137,650 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6753:Klf12
|
UTSW |
14 |
100,347,212 (GRCm39) |
nonsense |
probably null |
|
|
R8801:Klf12
|
UTSW |
14 |
100,260,172 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9347:Klf12
|
UTSW |
14 |
100,260,144 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9455:Klf12
|
UTSW |
14 |
100,347,226 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Protein Function and Prediction |
Klf12 encodes AP2 repressor (AP-2REP), which shares structural homology with transcription factors of the Wt-1/EGR-1 family (1) and is a Krüppel-like zinc finger protein (2). AP-2REP represses the transcription of the AP-2α gene (1;2). KLF12 increases UT-A1 but not ENaC promoter activity and is proposed to be involved in the post-birth maturation of the kidney collecting ducts (3).
|
| Expression/Localization |
Klf12 expression is highest in the adult kidney and low levels are detected in the liver and lung; no other tissues expressed transcripts (1). Expression is initially observed in the kidney at about 15 days after birth (3). AP-2REP is expressed in the collecting ducts of the kidney (3).
|
| References |
1. Imhof, A., Schuierer, M., Werner, O., Moser, M., Roth, C., Bauer, R., and Buettner, R. (1999) Transcriptional Regulation of the AP-2alpha Promoter by BTEB-1 and AP-2rep, a Novel Wt-1/egr-Related Zinc Finger Repressor. Mol Cell Biol. 19, 194-204.
3. Suda, S., Rai, T., Sohara, E., Sasaki, S., and Uchida, S. (2006) Postnatal Expression of KLF12 in the Inner Medullary Collecting Ducts of Kidney and its Trans-Activation of UT-A1 Urea Transporter Promoter. Biochem Biophys Res Commun. 344, 246-252. |
| Posted On |
2012-12-17 |
| Science Writer |
Anne Murray |
Incidental Mutation