Incidental Mutation 'IGL02202:Klf11'
| ID |
284378 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Klf11
|
| Ensembl Gene |
ENSMUSG00000020653 |
| Gene Name |
Kruppel-like transcription factor 11 |
| Synonyms |
D12Ertd427e, Tieg3, Tieg2, Tieg2b |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02202
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
24701370-24712781 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 24703631 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 22
(V22G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115340
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020982]
[ENSMUST00000139940]
[ENSMUST00000144046]
[ENSMUST00000146894]
|
| AlphaFold |
Q8K1S5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020982
AA Change: V39G
PolyPhen 2
Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000020982
Gene: ENSMUSG00000020653
AA Change: V39G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
267 |
275 |
N/A |
INTRINSIC |
|
low complexity region
|
356 |
367 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
384 |
408 |
5.9e-3 |
SMART |
|
ZnF_C2H2
|
414 |
438 |
9.22e-5 |
SMART |
|
ZnF_C2H2
|
444 |
466 |
1.38e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139940
AA Change: V22G
PolyPhen 2
Score 0.261 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144046
AA Change: V22G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146894
AA Change: V22G
PolyPhen 2
Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a zinc finger transcription factor that binds to SP1-like sequences in epsilon- and gamma-globin gene promoters. This binding inhibits cell growth and causes apoptosis. Defects in this gene are a cause of maturity-onset diabetes of the young type 7 (MODY7). Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Apr 2010]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile, show normal hematopoiesis, growth and development, and display no evidence of increased tumor formation following gamma-irradiation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
C |
T |
11: 9,238,529 (GRCm39) |
T709I |
possibly damaging |
Het |
| Acte1 |
T |
A |
7: 143,447,910 (GRCm39) |
M251K |
possibly damaging |
Het |
| Arhgef1 |
T |
A |
7: 24,612,854 (GRCm39) |
Y185* |
probably null |
Het |
| Atxn7l1 |
T |
C |
12: 33,392,077 (GRCm39) |
S218P |
probably benign |
Het |
| Cd200r2 |
T |
A |
16: 44,729,723 (GRCm39) |
L126Q |
probably damaging |
Het |
| Cdc6 |
T |
A |
11: 98,811,641 (GRCm39) |
|
probably null |
Het |
| Cenph |
T |
C |
13: 100,898,381 (GRCm39) |
N174S |
probably benign |
Het |
| Cep192 |
A |
G |
18: 67,936,207 (GRCm39) |
R49G |
possibly damaging |
Het |
| Edrf1 |
A |
G |
7: 133,258,699 (GRCm39) |
T692A |
probably benign |
Het |
| Frem2 |
A |
T |
3: 53,562,220 (GRCm39) |
H762Q |
probably benign |
Het |
| Gli2 |
T |
C |
1: 118,764,596 (GRCm39) |
D1185G |
probably damaging |
Het |
| Hsd3b2 |
T |
A |
3: 98,619,183 (GRCm39) |
Y254F |
possibly damaging |
Het |
| Itgal |
C |
A |
7: 126,929,351 (GRCm39) |
Y1089* |
probably null |
Het |
| Morc3 |
T |
C |
16: 93,667,749 (GRCm39) |
V636A |
probably benign |
Het |
| Nin |
T |
A |
12: 70,102,210 (GRCm39) |
D330V |
probably damaging |
Het |
| Nlrp4a |
G |
T |
7: 26,148,703 (GRCm39) |
K103N |
possibly damaging |
Het |
| Ntsr2 |
T |
A |
12: 16,703,661 (GRCm39) |
V54E |
probably damaging |
Het |
| Or7g27 |
C |
A |
9: 19,250,545 (GRCm39) |
A263E |
probably benign |
Het |
| Pdha2 |
T |
C |
3: 140,916,412 (GRCm39) |
I365M |
probably benign |
Het |
| Prr19 |
T |
C |
7: 25,003,462 (GRCm39) |
S359P |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,745,274 (GRCm39) |
K2040E |
probably damaging |
Het |
| Ryr2 |
C |
A |
13: 11,762,544 (GRCm39) |
|
probably benign |
Het |
| Sema4a |
G |
T |
3: 88,357,050 (GRCm39) |
A307E |
probably damaging |
Het |
| Setd5 |
T |
A |
6: 113,127,976 (GRCm39) |
S1310T |
probably benign |
Het |
| Tph1 |
A |
T |
7: 46,303,185 (GRCm39) |
D264E |
probably benign |
Het |
| Zc3h6 |
T |
C |
2: 128,858,501 (GRCm39) |
L844P |
probably damaging |
Het |
|
| Other mutations in Klf11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01630:Klf11
|
APN |
12 |
24,710,368 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02527:Klf11
|
APN |
12 |
24,705,322 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL02964:Klf11
|
APN |
12 |
24,705,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0254:Klf11
|
UTSW |
12 |
24,703,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0553:Klf11
|
UTSW |
12 |
24,705,089 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0739:Klf11
|
UTSW |
12 |
24,710,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1584:Klf11
|
UTSW |
12 |
24,705,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1592:Klf11
|
UTSW |
12 |
24,703,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2356:Klf11
|
UTSW |
12 |
24,703,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3085:Klf11
|
UTSW |
12 |
24,705,490 (GRCm39) |
missense |
probably benign |
|
|
R4690:Klf11
|
UTSW |
12 |
24,705,071 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5023:Klf11
|
UTSW |
12 |
24,705,358 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5483:Klf11
|
UTSW |
12 |
24,705,410 (GRCm39) |
nonsense |
probably null |
|
|
R5528:Klf11
|
UTSW |
12 |
24,704,929 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6148:Klf11
|
UTSW |
12 |
24,701,567 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6698:Klf11
|
UTSW |
12 |
24,703,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6799:Klf11
|
UTSW |
12 |
24,705,638 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R7317:Klf11
|
UTSW |
12 |
24,705,518 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R7384:Klf11
|
UTSW |
12 |
24,703,742 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7440:Klf11
|
UTSW |
12 |
24,705,490 (GRCm39) |
missense |
probably benign |
|
|
R7473:Klf11
|
UTSW |
12 |
24,705,141 (GRCm39) |
splice site |
probably null |
|
|
R7477:Klf11
|
UTSW |
12 |
24,703,562 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7658:Klf11
|
UTSW |
12 |
24,703,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9378:Klf11
|
UTSW |
12 |
24,705,043 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9479:Klf11
|
UTSW |
12 |
24,705,029 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9663:Klf11
|
UTSW |
12 |
24,705,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9721:Klf11
|
UTSW |
12 |
24,710,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation