Incidental Mutation 'IGL00819:Klf7'
ID |
11648 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Klf7
|
Ensembl Gene |
ENSMUSG00000025959 |
Gene Name |
Kruppel-like transcription factor 7 (ubiquitous) |
Synonyms |
9830124P08Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL00819
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
64068606-64161441 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 64081476 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 284
(D284G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109720
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055001]
[ENSMUST00000114086]
|
AlphaFold |
Q99JB0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000055001
AA Change: D284G
PolyPhen 2
Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000054674 Gene: ENSMUSG00000025959 AA Change: D284G
Domain | Start | End | E-Value | Type |
low complexity region
|
134 |
145 |
N/A |
INTRINSIC |
low complexity region
|
162 |
194 |
N/A |
INTRINSIC |
low complexity region
|
195 |
206 |
N/A |
INTRINSIC |
ZnF_C2H2
|
218 |
242 |
3.83e-2 |
SMART |
ZnF_C2H2
|
248 |
272 |
4.94e-5 |
SMART |
ZnF_C2H2
|
278 |
300 |
6.78e-3 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114086
AA Change: D284G
PolyPhen 2
Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000109720 Gene: ENSMUSG00000025959 AA Change: D284G
Domain | Start | End | E-Value | Type |
low complexity region
|
134 |
145 |
N/A |
INTRINSIC |
low complexity region
|
162 |
194 |
N/A |
INTRINSIC |
low complexity region
|
195 |
206 |
N/A |
INTRINSIC |
ZnF_C2H2
|
218 |
242 |
3.83e-2 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184798
|
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 member of the Kruppel-like transcriptional regulator family. Members in this family regulate cell proliferation, differentiation and survival and contain three C2H2 zinc fingers at the C-terminus that mediate binding to GC-rich sites. This protein may contribute to the progression of type 2 diabetes by inhibiting insulin expression and secretion in pancreatic beta-cells and by deregulating adipocytokine secretion in adipocytes. A pseudogene of this gene is located on the long arm of chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012] PHENOTYPE: Homozygous null mice die within 3 days of life, showing lack of gastic milk, hypopnea, cyanosis, olfactory bulb hypoplasia, no response to tail clamping, impaired axon projection in the olfactory and visual systems, cerebral cortex and hippocampus, and reduced dendritic branching in the hippocampus. [provided by MGI curators]
|
Allele List at MGI |
All alleles(3) : Targeted, knock-out(1) Targeted, other(2) |
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd35 |
A |
T |
3: 96,590,350 (GRCm39) |
|
probably null |
Het |
Apaf1 |
G |
T |
10: 90,833,202 (GRCm39) |
|
probably null |
Het |
Ash1l |
T |
A |
3: 88,915,043 (GRCm39) |
V1891E |
possibly damaging |
Het |
Atm |
A |
G |
9: 53,429,831 (GRCm39) |
S402P |
probably damaging |
Het |
Camk2g |
C |
T |
14: 20,787,398 (GRCm39) |
G500S |
probably damaging |
Het |
Ccdc150 |
T |
A |
1: 54,302,732 (GRCm39) |
N117K |
probably damaging |
Het |
Ccl7 |
A |
G |
11: 81,937,401 (GRCm39) |
N45S |
probably benign |
Het |
Dnah2 |
A |
T |
11: 69,364,176 (GRCm39) |
|
probably null |
Het |
Efcab6 |
A |
G |
15: 83,902,843 (GRCm39) |
I169T |
probably benign |
Het |
Exo1 |
T |
C |
1: 175,723,803 (GRCm39) |
V383A |
probably benign |
Het |
Fbxl2 |
A |
G |
9: 113,813,047 (GRCm39) |
|
probably benign |
Het |
Fryl |
A |
T |
5: 73,305,451 (GRCm39) |
V106D |
possibly damaging |
Het |
Fsip1 |
C |
A |
2: 118,080,393 (GRCm39) |
R121L |
possibly damaging |
Het |
Igsf9 |
T |
C |
1: 172,324,203 (GRCm39) |
S789P |
probably benign |
Het |
Mbtd1 |
A |
G |
11: 93,822,637 (GRCm39) |
|
probably null |
Het |
Mef2c |
A |
T |
13: 83,773,499 (GRCm39) |
D125V |
probably damaging |
Het |
Nectin4 |
T |
C |
1: 171,212,254 (GRCm39) |
L284S |
probably damaging |
Het |
Numa1 |
G |
T |
7: 101,641,917 (GRCm39) |
G122W |
possibly damaging |
Het |
Pcbd1 |
A |
C |
10: 60,927,919 (GRCm39) |
E27A |
probably benign |
Het |
Pclo |
A |
G |
5: 14,908,860 (GRCm39) |
N5056S |
unknown |
Het |
Pelp1 |
G |
A |
11: 70,285,444 (GRCm39) |
P808L |
unknown |
Het |
Ppp1r12a |
T |
C |
10: 108,076,682 (GRCm39) |
S304P |
probably damaging |
Het |
Ppp1r7 |
T |
A |
1: 93,273,978 (GRCm39) |
D51E |
probably benign |
Het |
Rassf6 |
T |
C |
5: 90,751,930 (GRCm39) |
K308E |
probably benign |
Het |
Rel |
A |
T |
11: 23,693,029 (GRCm39) |
F335I |
probably benign |
Het |
Scnn1g |
A |
G |
7: 121,339,660 (GRCm39) |
E153G |
probably benign |
Het |
Slc2a5 |
T |
C |
4: 150,210,113 (GRCm39) |
Y33H |
probably damaging |
Het |
Slit2 |
G |
A |
5: 48,146,493 (GRCm39) |
E95K |
possibly damaging |
Het |
Tpra1 |
T |
A |
6: 88,886,318 (GRCm39) |
Y65* |
probably null |
Het |
Trip12 |
C |
T |
1: 84,731,993 (GRCm39) |
G994S |
probably damaging |
Het |
Trnt1 |
T |
A |
6: 106,753,183 (GRCm39) |
Y195* |
probably null |
Het |
Ttn |
A |
G |
2: 76,573,394 (GRCm39) |
I17506T |
probably damaging |
Het |
Ubr4 |
C |
T |
4: 139,203,593 (GRCm39) |
T4761I |
possibly damaging |
Het |
Vmn1r204 |
T |
A |
13: 22,741,117 (GRCm39) |
Y249* |
probably null |
Het |
Zfp212 |
C |
T |
6: 47,908,256 (GRCm39) |
P412S |
probably damaging |
Het |
Zhx1 |
A |
G |
15: 57,918,090 (GRCm39) |
V52A |
probably benign |
Het |
Zpbp2 |
A |
T |
11: 98,448,418 (GRCm39) |
H245L |
probably damaging |
Het |
|
Other mutations in Klf7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01684:Klf7
|
APN |
1 |
64,160,051 (GRCm39) |
splice site |
probably benign |
|
IGL01844:Klf7
|
APN |
1 |
64,117,933 (GRCm39) |
missense |
probably benign |
0.02 |
IGL03181:Klf7
|
APN |
1 |
64,074,885 (GRCm39) |
missense |
possibly damaging |
0.88 |
Esurientes
|
UTSW |
1 |
64,118,372 (GRCm39) |
missense |
possibly damaging |
0.78 |
C9142:Klf7
|
UTSW |
1 |
64,118,316 (GRCm39) |
missense |
possibly damaging |
0.47 |
R1736:Klf7
|
UTSW |
1 |
64,118,372 (GRCm39) |
missense |
possibly damaging |
0.78 |
R1737:Klf7
|
UTSW |
1 |
64,118,372 (GRCm39) |
missense |
possibly damaging |
0.78 |
R1744:Klf7
|
UTSW |
1 |
64,118,372 (GRCm39) |
missense |
possibly damaging |
0.78 |
R2048:Klf7
|
UTSW |
1 |
64,117,913 (GRCm39) |
missense |
possibly damaging |
0.65 |
R2891:Klf7
|
UTSW |
1 |
64,081,521 (GRCm39) |
missense |
probably damaging |
1.00 |
R5055:Klf7
|
UTSW |
1 |
64,118,439 (GRCm39) |
missense |
probably benign |
0.08 |
R5613:Klf7
|
UTSW |
1 |
64,081,555 (GRCm39) |
missense |
probably damaging |
0.98 |
R5782:Klf7
|
UTSW |
1 |
64,081,570 (GRCm39) |
missense |
possibly damaging |
0.81 |
R7369:Klf7
|
UTSW |
1 |
64,160,300 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7470:Klf7
|
UTSW |
1 |
64,081,472 (GRCm39) |
critical splice donor site |
probably null |
|
R8501:Klf7
|
UTSW |
1 |
64,118,322 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2012-12-06 |