Incidental Mutation 'IGL01407:Klf12'
| ID |
79830 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Klf12
|
| Ensembl Gene |
ENSMUSG00000072294 |
| Gene Name |
Kruppel-like transcription factor 12 |
| Synonyms |
AP-2rep, 2700063E05Rik, D530033K05Rik, B130052C06Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.461)
|
| Stock # |
IGL01407
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
100108068-100522115 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 100347294 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 12
(N12K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153901
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097079]
[ENSMUST00000226774]
[ENSMUST00000228216]
|
| AlphaFold |
O35738 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000097079
AA Change: N12K
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000094844
Gene: ENSMUSG00000072294
AA Change: N12K
| 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 benign
Transcript: ENSMUST00000226774
AA Change: N12K
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228216
AA Change: N12K
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
| Coding Region Coverage |
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
T |
A |
2: 69,076,288 (GRCm39) |
D1140V |
probably damaging |
Het |
| Ak1 |
G |
T |
2: 32,523,507 (GRCm39) |
|
probably benign |
Het |
| Ano1 |
A |
T |
7: 144,190,848 (GRCm39) |
L411H |
probably benign |
Het |
| Atad2 |
A |
T |
15: 57,967,921 (GRCm39) |
N569K |
probably benign |
Het |
| Bst2 |
C |
A |
8: 71,989,830 (GRCm39) |
R81L |
probably damaging |
Het |
| Cd4 |
G |
A |
6: 124,856,341 (GRCm39) |
T50I |
probably benign |
Het |
| Chrna5 |
C |
T |
9: 54,911,683 (GRCm39) |
T57M |
possibly damaging |
Het |
| Cp |
A |
T |
3: 20,031,369 (GRCm39) |
D602V |
possibly damaging |
Het |
| Drd2 |
T |
C |
9: 49,312,115 (GRCm39) |
I156T |
probably damaging |
Het |
| Elp4 |
G |
A |
2: 105,622,653 (GRCm39) |
R349W |
probably damaging |
Het |
| Eml6 |
G |
A |
11: 29,705,021 (GRCm39) |
R1508* |
probably null |
Het |
| Etl4 |
T |
C |
2: 20,748,667 (GRCm39) |
L335S |
probably damaging |
Het |
| Fat3 |
A |
T |
9: 16,289,319 (GRCm39) |
I68K |
probably benign |
Het |
| Fyco1 |
G |
T |
9: 123,657,944 (GRCm39) |
A744D |
probably damaging |
Het |
| Gm22165 |
G |
T |
3: 64,012,886 (GRCm39) |
|
probably benign |
Het |
| Gse1 |
T |
C |
8: 121,280,326 (GRCm39) |
M1T |
probably null |
Het |
| Hs3st5 |
A |
T |
10: 36,709,404 (GRCm39) |
H313L |
probably damaging |
Het |
| Hsd17b3 |
T |
C |
13: 64,210,719 (GRCm39) |
Y212C |
probably damaging |
Het |
| Hyal5 |
G |
T |
6: 24,876,406 (GRCm39) |
S93I |
probably benign |
Het |
| Itgb1 |
T |
C |
8: 129,449,315 (GRCm39) |
V578A |
probably benign |
Het |
| Krt40 |
C |
T |
11: 99,432,045 (GRCm39) |
C222Y |
probably damaging |
Het |
| Lrrn2 |
T |
C |
1: 132,864,965 (GRCm39) |
L10P |
probably damaging |
Het |
| Lrsam1 |
T |
C |
2: 32,837,915 (GRCm39) |
Y213C |
probably damaging |
Het |
| Mitf |
C |
A |
6: 97,994,892 (GRCm39) |
T277K |
possibly damaging |
Het |
| Ncan |
C |
T |
8: 70,554,607 (GRCm39) |
R1070H |
probably benign |
Het |
| Nr4a3 |
A |
G |
4: 48,083,201 (GRCm39) |
E578G |
probably benign |
Het |
| Patj |
A |
G |
4: 98,301,287 (GRCm39) |
T191A |
possibly damaging |
Het |
| Pign |
A |
G |
1: 105,517,027 (GRCm39) |
V533A |
probably benign |
Het |
| Smad5 |
G |
A |
13: 56,883,630 (GRCm39) |
V339I |
probably benign |
Het |
| Spem2 |
T |
A |
11: 69,708,065 (GRCm39) |
Y300F |
possibly damaging |
Het |
| Trank1 |
T |
G |
9: 111,193,790 (GRCm39) |
S605A |
probably damaging |
Het |
| Treml4 |
T |
A |
17: 48,571,877 (GRCm39) |
D93E |
possibly damaging |
Het |
| Tsc22d2 |
T |
A |
3: 58,323,924 (GRCm39) |
V272E |
probably damaging |
Het |
| Vmn2r19 |
T |
A |
6: 123,306,826 (GRCm39) |
F445I |
possibly damaging |
Het |
| Zfp712 |
T |
A |
13: 67,190,230 (GRCm39) |
Q99L |
possibly damaging |
Het |
| Zfp719 |
A |
T |
7: 43,233,611 (GRCm39) |
K10I |
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 |
|
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 |
|
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 |
|
| Posted On |
2013-11-05 |
Incidental Mutation