Incidental Mutation 'R0577:Klf12'
ID |
56274 |
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 |
038767-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.461)
|
Stock # |
R0577 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
100108068-100522115 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 100260585 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 48
(Y48F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153987
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097079]
[ENSMUST00000226774]
[ENSMUST00000228216]
|
AlphaFold |
O35738 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000097079
AA Change: Y48F
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000094844 Gene: ENSMUSG00000072294 AA Change: Y48F
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 damaging
Transcript: ENSMUST00000226774
AA Change: Y48F
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228216
AA Change: Y48F
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
Meta Mutation Damage Score |
0.1031 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.2%
|
Validation Efficiency |
97% (30/31) |
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 |
Aars1 |
T |
A |
8: 111,769,910 (GRCm39) |
H336Q |
probably benign |
Het |
Abcc2 |
A |
T |
19: 43,807,840 (GRCm39) |
D827V |
probably damaging |
Het |
Asph |
G |
T |
4: 9,604,620 (GRCm39) |
A139E |
probably benign |
Het |
Bag3 |
T |
C |
7: 128,125,611 (GRCm39) |
M10T |
probably benign |
Het |
Bod1l |
T |
C |
5: 41,952,230 (GRCm39) |
D2894G |
probably damaging |
Het |
Cdk12 |
T |
C |
11: 98,094,332 (GRCm39) |
S47P |
probably damaging |
Het |
Dchs1 |
C |
T |
7: 105,413,462 (GRCm39) |
V1118I |
possibly damaging |
Het |
Ddi2 |
A |
T |
4: 141,411,818 (GRCm39) |
C365S |
possibly damaging |
Het |
Eef1g |
A |
G |
19: 8,950,406 (GRCm39) |
D264G |
probably benign |
Het |
Fbxw17 |
T |
C |
13: 50,585,619 (GRCm39) |
L274P |
probably benign |
Het |
Gpc6 |
A |
G |
14: 117,673,420 (GRCm39) |
T226A |
probably benign |
Het |
Klhdc4 |
C |
T |
8: 122,548,090 (GRCm39) |
A67T |
probably damaging |
Het |
Macir |
C |
T |
1: 97,589,551 (GRCm39) |
|
probably null |
Het |
Madd |
C |
T |
2: 90,968,740 (GRCm39) |
E1596K |
possibly damaging |
Het |
Mov10l1 |
A |
G |
15: 88,889,930 (GRCm39) |
Y533C |
probably damaging |
Het |
Mtif2 |
G |
T |
11: 29,490,862 (GRCm39) |
|
probably null |
Het |
Mtmr6 |
G |
A |
14: 60,534,087 (GRCm39) |
V442I |
possibly damaging |
Het |
Or4k15b |
C |
T |
14: 50,272,249 (GRCm39) |
G204R |
probably damaging |
Het |
Or5ac23 |
A |
T |
16: 59,149,061 (GRCm39) |
D270E |
probably benign |
Het |
Or9i16 |
T |
C |
19: 13,865,167 (GRCm39) |
T136A |
probably damaging |
Het |
Pdcd11 |
A |
G |
19: 47,087,271 (GRCm39) |
N277S |
probably benign |
Het |
Pias2 |
A |
T |
18: 77,184,977 (GRCm39) |
L12F |
probably damaging |
Het |
Potefam1 |
G |
T |
2: 111,024,694 (GRCm39) |
Q57K |
probably benign |
Het |
Rnf213 |
G |
T |
11: 119,334,106 (GRCm39) |
R3105L |
probably damaging |
Het |
Rps11 |
A |
G |
7: 44,772,274 (GRCm39) |
V111A |
probably benign |
Het |
Rrs1 |
C |
A |
1: 9,616,026 (GRCm39) |
|
probably null |
Het |
Thsd7a |
T |
C |
6: 12,321,047 (GRCm39) |
T1543A |
possibly damaging |
Het |
Vmn2r86 |
C |
A |
10: 130,288,444 (GRCm39) |
R352S |
probably benign |
Het |
Zfp141 |
T |
C |
7: 42,125,938 (GRCm39) |
N178S |
probably benign |
Het |
Zfp955a |
A |
T |
17: 33,461,068 (GRCm39) |
F355I |
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 |
|
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACCACAGGGATTCGATGAACATGAC -3'
(R):5'- TGTGACCTCTTGTATGAACCAGTGC -3'
Sequencing Primer
(F):5'- CTGTTGACGAAGACGATGCTG -3'
(R):5'- GTGCGTCCTTCCAATGAAAAG -3'
|
Posted On |
2013-07-11 |