Incidental Mutation 'IGL01630:Klf11'
| ID |
92909 |
| 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 # |
IGL01630
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
24701370-24712781 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 24710368 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 472
(I472T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020982
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020982]
|
| AlphaFold |
Q8K1S5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020982
AA Change: I472T
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000020982
Gene: ENSMUSG00000020653
AA Change: I472T
| 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 |
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam30 |
A |
G |
3: 98,069,171 (GRCm39) |
T207A |
possibly damaging |
Het |
| Ak8 |
T |
A |
2: 28,602,291 (GRCm39) |
M75K |
probably benign |
Het |
| Aldh1a7 |
A |
T |
19: 20,673,693 (GRCm39) |
|
probably benign |
Het |
| Ankrd34c |
G |
A |
9: 89,611,879 (GRCm39) |
T154I |
probably damaging |
Het |
| Arrb2 |
A |
G |
11: 70,327,697 (GRCm39) |
I120M |
probably damaging |
Het |
| Atp2a1 |
A |
G |
7: 126,049,437 (GRCm39) |
V535A |
probably benign |
Het |
| Cckbr |
G |
T |
7: 105,083,293 (GRCm39) |
W165C |
probably damaging |
Het |
| Col12a1 |
A |
T |
9: 79,564,648 (GRCm39) |
H1677Q |
probably damaging |
Het |
| Fancd2 |
T |
C |
6: 113,540,085 (GRCm39) |
F658S |
probably damaging |
Het |
| Gm5581 |
A |
T |
6: 131,145,259 (GRCm39) |
|
noncoding transcript |
Het |
| H2-M3 |
A |
G |
17: 37,581,548 (GRCm39) |
E70G |
possibly damaging |
Het |
| Hltf |
A |
G |
3: 20,137,068 (GRCm39) |
|
probably benign |
Het |
| Ighv1-24 |
C |
A |
12: 114,736,673 (GRCm39) |
V76F |
probably benign |
Het |
| Igkv1-110 |
A |
T |
6: 68,248,145 (GRCm39) |
R85W |
probably damaging |
Het |
| Kif9 |
A |
C |
9: 110,314,138 (GRCm39) |
R43S |
probably benign |
Het |
| Napsa |
A |
G |
7: 44,236,089 (GRCm39) |
Y376C |
probably damaging |
Het |
| Notch2 |
C |
T |
3: 98,053,934 (GRCm39) |
A2199V |
possibly damaging |
Het |
| Or10a5 |
A |
T |
7: 106,636,318 (GRCm39) |
|
probably benign |
Het |
| Or1e30 |
A |
G |
11: 73,678,687 (GRCm39) |
K308E |
probably benign |
Het |
| Pcnt |
T |
A |
10: 76,256,080 (GRCm39) |
D720V |
probably damaging |
Het |
| Psmg2 |
G |
A |
18: 67,786,293 (GRCm39) |
V218I |
probably benign |
Het |
| Ptk6 |
T |
C |
2: 180,838,859 (GRCm39) |
E298G |
probably damaging |
Het |
| Rbm27 |
T |
A |
18: 42,434,905 (GRCm39) |
L323H |
probably damaging |
Het |
| Sall3 |
A |
G |
18: 81,014,484 (GRCm39) |
L1076P |
probably benign |
Het |
| Sprr2h |
A |
G |
3: 92,294,258 (GRCm39) |
N35S |
unknown |
Het |
| Susd1 |
T |
C |
4: 59,365,817 (GRCm39) |
D412G |
possibly damaging |
Het |
| Ugdh |
T |
A |
5: 65,574,248 (GRCm39) |
M432L |
probably benign |
Het |
| Uggt2 |
C |
T |
14: 119,280,184 (GRCm39) |
V765I |
probably benign |
Het |
| Unc13d |
T |
C |
11: 115,964,692 (GRCm39) |
Q258R |
probably benign |
Het |
| Wdfy3 |
A |
T |
5: 102,055,354 (GRCm39) |
F1572Y |
probably benign |
Het |
| Xpo1 |
A |
G |
11: 23,235,846 (GRCm39) |
T645A |
probably benign |
Het |
| Zer1 |
A |
G |
2: 29,991,843 (GRCm39) |
V659A |
probably damaging |
Het |
|
| Other mutations in Klf11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02202:Klf11
|
APN |
12 |
24,703,631 (GRCm39) |
missense |
probably benign |
0.37 |
|
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 |
2013-12-09 |
Incidental Mutation