Incidental Mutation 'R9560:Klf5'
| ID |
720976 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klf5
|
| Ensembl Gene |
ENSMUSG00000005148 |
| Gene Name |
Kruppel-like transcription factor 5 |
| Synonyms |
IKLF, Bteb2, 4930520J07Rik, CKLF |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9560 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
99536127-99550848 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 99539034 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 149
(Q149L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005279
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005279]
[ENSMUST00000226784]
|
| AlphaFold |
Q9Z0Z7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005279
AA Change: Q149L
PolyPhen 2
Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000005279
Gene: ENSMUSG00000005148
AA Change: Q149L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
53 |
65 |
N/A |
INTRINSIC |
|
low complexity region
|
166 |
173 |
N/A |
INTRINSIC |
|
low complexity region
|
290 |
301 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
362 |
386 |
3.83e-2 |
SMART |
|
ZnF_C2H2
|
392 |
416 |
2.47e-5 |
SMART |
|
ZnF_C2H2
|
422 |
444 |
1.2e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226784
AA Change: Q69L
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Kruppel-like factor subfamily of zinc finger proteins. The encoded protein is a transcriptional activator that binds directly to a specific recognition motif in the promoters of target genes. This protein acts downstream of multiple different signaling pathways and is regulated by post-translational modification. It may participate in both promoting and suppressing cell proliferation. Expression of this gene may be changed in a variety of different cancers and in cardiovascular disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]
PHENOTYPE: Homozygous null mice die during gestation, while heterozygotes exhibit abnormal cardiovascular remodeling after external stress. Mice homozygous for a floxed allele activated in the prostate exhibit increased cell proliferation and hyperplasia in the prostate without neoplasia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
T |
C |
11: 48,839,082 (GRCm39) |
R502G |
probably damaging |
Het |
| A930004D18Rik |
G |
A |
2: 18,032,218 (GRCm39) |
|
probably benign |
Het |
| Abhd16b |
T |
A |
2: 181,135,103 (GRCm39) |
C2S |
probably damaging |
Het |
| Adam2 |
T |
C |
14: 66,275,102 (GRCm39) |
M544V |
probably benign |
Het |
| Agbl3 |
T |
A |
6: 34,823,843 (GRCm39) |
V841E |
possibly damaging |
Het |
| Aldh1l1 |
A |
G |
6: 90,536,825 (GRCm39) |
D127G |
probably damaging |
Het |
| Ap1b1 |
G |
A |
11: 4,976,363 (GRCm39) |
E464K |
probably benign |
Het |
| Cdh19 |
T |
A |
1: 110,821,004 (GRCm39) |
E578V |
possibly damaging |
Het |
| Chat |
G |
A |
14: 32,170,942 (GRCm39) |
Q186* |
probably null |
Het |
| Cited4 |
A |
G |
4: 120,524,165 (GRCm39) |
T56A |
probably benign |
Het |
| Cpt1a |
T |
C |
19: 3,402,531 (GRCm39) |
L63P |
possibly damaging |
Het |
| Havcr2 |
C |
A |
11: 46,347,164 (GRCm39) |
A47E |
probably benign |
Het |
| Hdgfl1 |
C |
T |
13: 26,953,239 (GRCm39) |
G278E |
probably damaging |
Het |
| Klk10 |
A |
G |
7: 43,433,746 (GRCm39) |
Y186C |
probably damaging |
Het |
| Krt79 |
C |
T |
15: 101,846,277 (GRCm39) |
E224K |
probably damaging |
Het |
| Llgl2 |
A |
G |
11: 115,725,682 (GRCm39) |
D10G |
probably damaging |
Het |
| Lrrc37a |
C |
T |
11: 103,347,420 (GRCm39) |
V3092I |
unknown |
Het |
| Minar1 |
G |
T |
9: 89,484,531 (GRCm39) |
Q289K |
probably benign |
Het |
| Nbeal1 |
A |
G |
1: 60,368,544 (GRCm39) |
T2630A |
probably damaging |
Het |
| Ncor1 |
T |
C |
11: 62,263,948 (GRCm39) |
T485A |
possibly damaging |
Het |
| Olfr908 |
G |
A |
9: 38,427,385 (GRCm39) |
S19N |
probably benign |
Het |
| Or10h1b |
C |
T |
17: 33,395,868 (GRCm39) |
T164M |
probably damaging |
Het |
| Or10h5 |
G |
A |
17: 33,434,986 (GRCm39) |
H111Y |
probably damaging |
Het |
| Or4c104 |
A |
C |
2: 88,586,290 (GRCm39) |
I243S |
possibly damaging |
Het |
| Patj |
G |
A |
4: 98,570,289 (GRCm39) |
E1705K |
probably benign |
Het |
| Pcdh17 |
T |
A |
14: 84,770,898 (GRCm39) |
D1125E |
probably benign |
Het |
| Pfpl |
G |
C |
19: 12,406,297 (GRCm39) |
E183Q |
probably damaging |
Het |
| Pnliprp2 |
T |
C |
19: 58,762,523 (GRCm39) |
V376A |
possibly damaging |
Het |
| Pramel42 |
A |
T |
5: 94,685,640 (GRCm39) |
R433S |
possibly damaging |
Het |
| Scn1a |
A |
T |
2: 66,158,131 (GRCm39) |
L414Q |
probably damaging |
Het |
| Sfi1 |
ACA |
ACATCTTCCCAAAGCCAGTCA |
11: 3,103,382 (GRCm39) |
|
probably benign |
Het |
| Slc22a23 |
A |
G |
13: 34,381,851 (GRCm39) |
V411A |
possibly damaging |
Het |
| Slco1c1 |
T |
C |
6: 141,515,076 (GRCm39) |
V657A |
probably benign |
Het |
| Slco3a1 |
A |
T |
7: 74,153,931 (GRCm39) |
Y214N |
probably damaging |
Het |
| Sned1 |
A |
G |
1: 93,202,110 (GRCm39) |
T633A |
probably damaging |
Het |
| Tmem175 |
T |
C |
5: 108,789,693 (GRCm39) |
F96S |
probably damaging |
Het |
| Tmf1 |
C |
T |
6: 97,147,293 (GRCm39) |
E558K |
possibly damaging |
Het |
| Tsbp1 |
A |
T |
17: 34,663,016 (GRCm39) |
Q103H |
probably damaging |
Het |
| Ubac2 |
G |
A |
14: 122,145,636 (GRCm39) |
G98D |
possibly damaging |
Het |
| Unc50 |
T |
A |
1: 37,476,248 (GRCm39) |
V136D |
possibly damaging |
Het |
| Vmn1r49 |
T |
A |
6: 90,049,382 (GRCm39) |
M207L |
probably benign |
Het |
| Zfp853 |
T |
C |
5: 143,275,080 (GRCm39) |
E195G |
unknown |
Het |
| Zfyve9 |
A |
T |
4: 108,575,334 (GRCm39) |
N582K |
possibly damaging |
Het |
|
| Other mutations in Klf5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01295:Klf5
|
APN |
14 |
99,539,157 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02380:Klf5
|
APN |
14 |
99,538,894 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
Bernie
|
UTSW |
14 |
99,539,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
I0000:Klf5
|
UTSW |
14 |
99,540,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0133:Klf5
|
UTSW |
14 |
99,539,318 (GRCm39) |
missense |
probably benign |
|
|
R1672:Klf5
|
UTSW |
14 |
99,538,986 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1914:Klf5
|
UTSW |
14 |
99,539,357 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2193:Klf5
|
UTSW |
14 |
99,536,406 (GRCm39) |
unclassified |
probably benign |
|
|
R3892:Klf5
|
UTSW |
14 |
99,536,509 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4446:Klf5
|
UTSW |
14 |
99,539,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5437:Klf5
|
UTSW |
14 |
99,538,895 (GRCm39) |
nonsense |
probably null |
|
|
R5707:Klf5
|
UTSW |
14 |
99,538,944 (GRCm39) |
missense |
probably benign |
|
|
R6475:Klf5
|
UTSW |
14 |
99,538,817 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6552:Klf5
|
UTSW |
14 |
99,539,078 (GRCm39) |
missense |
probably benign |
|
|
R6982:Klf5
|
UTSW |
14 |
99,550,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7250:Klf5
|
UTSW |
14 |
99,536,455 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7643:Klf5
|
UTSW |
14 |
99,550,614 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7938:Klf5
|
UTSW |
14 |
99,536,444 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8272:Klf5
|
UTSW |
14 |
99,539,540 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8396:Klf5
|
UTSW |
14 |
99,539,670 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8898:Klf5
|
UTSW |
14 |
99,538,922 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9015:Klf5
|
UTSW |
14 |
99,540,919 (GRCm39) |
makesense |
probably null |
|
|
R9251:Klf5
|
UTSW |
14 |
99,538,824 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9717:Klf5
|
UTSW |
14 |
99,539,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCAGTTCCGATAATTTCAGAGC -3'
(R):5'- AACTGGGCATGTCTAGATCCG -3'
Sequencing Primer
(F):5'- CATAAAAAGTATAGACGAGACAGTGC -3'
(R):5'- GCATGTCTAGATCCGGTGTATTCAAC -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation