Incidental Mutation 'R2317:Klf12'
| ID |
245539 |
| 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 |
040312-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.461)
|
| Stock # |
R2317 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
100108068-100522115 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 100179503 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 279
(R279Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153901
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097079]
[ENSMUST00000228216]
|
| AlphaFold |
O35738 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097079
AA Change: R279Q
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000094844
Gene: ENSMUSG00000072294
AA Change: R279Q
| 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 benign
Transcript: ENSMUST00000228216
AA Change: R279Q
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ccdc102a |
T |
C |
8: 95,634,957 (GRCm39) |
D327G |
probably null |
Het |
| Cdh15 |
G |
A |
8: 123,583,374 (GRCm39) |
R59H |
probably benign |
Het |
| Cfap126 |
A |
G |
1: 170,953,700 (GRCm39) |
D134G |
possibly damaging |
Het |
| Cript |
T |
C |
17: 87,335,139 (GRCm39) |
L19P |
probably benign |
Het |
| Cwf19l1 |
A |
C |
19: 44,120,597 (GRCm39) |
L39V |
possibly damaging |
Het |
| Eif2b4 |
T |
C |
5: 31,348,920 (GRCm39) |
|
probably null |
Het |
| Esp16 |
A |
G |
17: 39,850,738 (GRCm39) |
N39S |
probably benign |
Het |
| Fbxo30 |
A |
G |
10: 11,166,078 (GRCm39) |
N267D |
probably damaging |
Het |
| Gabra6 |
T |
C |
11: 42,208,607 (GRCm39) |
|
probably null |
Het |
| Gp1ba |
A |
G |
11: 70,531,473 (GRCm39) |
|
probably benign |
Het |
| Lats1 |
C |
T |
10: 7,567,540 (GRCm39) |
Q104* |
probably null |
Het |
| Myrfl |
A |
G |
10: 116,675,289 (GRCm39) |
Y215H |
possibly damaging |
Het |
| Ncoa1 |
A |
G |
12: 4,325,189 (GRCm39) |
I963T |
probably damaging |
Het |
| Neurod6 |
A |
G |
6: 55,655,906 (GRCm39) |
Y244H |
probably damaging |
Het |
| Nodal |
T |
C |
10: 61,254,212 (GRCm39) |
M45T |
possibly damaging |
Het |
| Nuggc |
A |
G |
14: 65,861,591 (GRCm39) |
E479G |
possibly damaging |
Het |
| Pdcd6ip |
T |
C |
9: 113,501,842 (GRCm39) |
D467G |
probably benign |
Het |
| Pnmt |
C |
A |
11: 98,277,677 (GRCm39) |
Q74K |
probably benign |
Het |
| Slc25a36 |
G |
A |
9: 96,961,235 (GRCm39) |
T267I |
probably damaging |
Het |
| Slc35e3 |
A |
G |
10: 117,580,804 (GRCm39) |
S167P |
probably damaging |
Het |
| Sprr2f |
C |
A |
3: 92,273,390 (GRCm39) |
P63H |
unknown |
Het |
| Stt3a |
T |
C |
9: 36,659,371 (GRCm39) |
I323V |
probably benign |
Het |
| Tedc2 |
A |
G |
17: 24,435,358 (GRCm39) |
S344P |
probably benign |
Het |
| Unc13b |
A |
G |
4: 43,245,514 (GRCm39) |
D3722G |
probably damaging |
Het |
| Zfp35 |
T |
C |
18: 24,136,555 (GRCm39) |
Y300H |
probably damaging |
Het |
| Zfp959 |
A |
G |
17: 56,204,326 (GRCm39) |
D121G |
possibly 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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGCAGAGTAATTCCATCAGC -3'
(R):5'- ATGTGTGGCACCTTGGTACC -3'
Sequencing Primer
(F):5'- CTGCAGAGTAATTCCATCAGCATTTG -3'
(R):5'- GGCCCTGGAATTTAATTAATTGCACC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation