Incidental Mutation 'R2901:Klf12'
| ID |
261482 |
| 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 |
040489-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.461)
|
| Stock # |
R2901 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
100108068-100522115 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 100137582 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 321
(F321L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153901
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097079]
[ENSMUST00000228216]
|
| AlphaFold |
O35738 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000097079
AA Change: F321L
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000094844
Gene: ENSMUSG00000072294
AA Change: F321L
| 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 |
noncoding transcript
Transcript: ENSMUST00000226205
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228216
AA Change: F321L
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228612
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
100% (33/33) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd13 |
T |
A |
8: 10,038,231 (GRCm39) |
M276K |
probably damaging |
Het |
| Angpt4 |
G |
T |
2: 151,753,259 (GRCm39) |
C3F |
unknown |
Het |
| C1qtnf1 |
A |
G |
11: 118,338,930 (GRCm39) |
|
probably null |
Het |
| Cep192 |
C |
T |
18: 68,002,512 (GRCm39) |
R2236C |
possibly damaging |
Het |
| Cep68 |
A |
G |
11: 20,190,187 (GRCm39) |
L275P |
probably damaging |
Het |
| Clvs1 |
A |
G |
4: 9,281,972 (GRCm39) |
K139E |
probably damaging |
Het |
| Col25a1 |
A |
T |
3: 130,340,040 (GRCm39) |
E351V |
probably damaging |
Het |
| Dnah7a |
A |
T |
1: 53,467,031 (GRCm39) |
L3611Q |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Gm3336 |
T |
C |
8: 71,173,275 (GRCm39) |
S96P |
possibly damaging |
Het |
| Gm9845 |
T |
A |
3: 39,412,742 (GRCm39) |
|
noncoding transcript |
Het |
| Klhl20 |
G |
T |
1: 160,937,122 (GRCm39) |
C84* |
probably null |
Het |
| Krt23 |
T |
C |
11: 99,374,797 (GRCm39) |
D260G |
probably damaging |
Het |
| Lpin1 |
T |
C |
12: 16,603,999 (GRCm39) |
K578E |
probably benign |
Het |
| Mgat4f |
T |
C |
1: 134,318,662 (GRCm39) |
L478P |
probably damaging |
Het |
| Mrc1 |
A |
G |
2: 14,333,354 (GRCm39) |
H1345R |
possibly damaging |
Het |
| Nme8 |
A |
T |
13: 19,859,834 (GRCm39) |
V23E |
probably benign |
Het |
| Or10w1 |
C |
T |
19: 13,632,309 (GRCm39) |
P167L |
probably damaging |
Het |
| Or8g34 |
T |
A |
9: 39,373,234 (GRCm39) |
I169N |
probably damaging |
Het |
| Prf1 |
A |
T |
10: 61,136,098 (GRCm39) |
N125Y |
probably damaging |
Het |
| Ptp4a1 |
T |
C |
1: 30,982,385 (GRCm39) |
N142D |
possibly damaging |
Het |
| Simc1 |
G |
A |
13: 54,689,331 (GRCm39) |
|
probably null |
Het |
| Snai2 |
T |
C |
16: 14,523,847 (GRCm39) |
S4P |
possibly damaging |
Het |
| Ssc4d |
G |
A |
5: 135,993,517 (GRCm39) |
P113L |
possibly damaging |
Het |
| Stmn2 |
A |
G |
3: 8,606,981 (GRCm39) |
I34V |
probably benign |
Het |
| Tspoap1 |
C |
T |
11: 87,668,801 (GRCm39) |
P1358L |
probably benign |
Het |
| Ubr3 |
T |
C |
2: 69,846,536 (GRCm39) |
S1620P |
possibly damaging |
Het |
| Vps51 |
G |
A |
19: 6,126,468 (GRCm39) |
R95W |
probably damaging |
Het |
| Zup1 |
C |
T |
10: 33,803,608 (GRCm39) |
R492Q |
probably damaging |
Het |
| Zup1 |
T |
C |
10: 33,804,059 (GRCm39) |
T472A |
probably benign |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAAACTCGCTATGTTGAGAAGG -3'
(R):5'- GCAGTGTGTATGATCATTGAGCC -3'
Sequencing Primer
(F):5'- GAGAAGGTTTCATCATGCACTG -3'
(R):5'- ATTGAGAGCACAAGACGC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation