Incidental Mutation 'R4949:Klf6'
| ID |
383678 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klf6
|
| Ensembl Gene |
ENSMUSG00000000078 |
| Gene Name |
Kruppel-like transcription factor 6 |
| Synonyms |
FM6, Ierepo1, Copeb, FM2, CPBP, BCD1, Ierepo3, Zf9 |
| MMRRC Submission |
042546-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4949 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
5911488-5920392 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 5914947 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Cysteine
at position 129
(S129C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000080
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000080]
[ENSMUST00000222857]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000080
AA Change: S129C
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000000080
Gene: ENSMUSG00000000078
AA Change: S129C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
107 |
129 |
N/A |
INTRINSIC |
|
low complexity region
|
137 |
155 |
N/A |
INTRINSIC |
|
low complexity region
|
168 |
187 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
235 |
259 |
1.08e-1 |
SMART |
|
ZnF_C2H2
|
265 |
289 |
1.13e-4 |
SMART |
|
ZnF_C2H2
|
295 |
317 |
6.32e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221734
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222857
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.3%
|
| 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 family of transcription factors. The zinc finger protein is a transcriptional activator, and functions as a tumor suppressor. Multiple transcript variants encoding different isoforms have been found for this gene, some of which are implicated in carcinogenesis. [provided by RefSeq, May 2009]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality during organogenesis, small size, pallor, decreased cellular proliferation and delayed liver development. Mice heterozygous for a null allele exhibit delays in embryonic hematopoeisis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox3 |
T |
C |
5: 35,769,450 (GRCm39) |
V692A |
probably benign |
Het |
| Bcl2l13 |
G |
T |
6: 120,864,191 (GRCm39) |
G382W |
probably damaging |
Het |
| Cdhr5 |
T |
A |
7: 140,852,557 (GRCm39) |
N353I |
probably damaging |
Het |
| Chil4 |
A |
G |
3: 106,113,408 (GRCm39) |
S170P |
possibly damaging |
Het |
| Clp1 |
A |
C |
2: 84,554,086 (GRCm39) |
M361R |
possibly damaging |
Het |
| Cylc2 |
A |
G |
4: 51,229,804 (GRCm39) |
K382R |
unknown |
Het |
| Dsg2 |
T |
A |
18: 20,723,241 (GRCm39) |
D422E |
probably damaging |
Het |
| Dync1h1 |
C |
A |
12: 110,624,560 (GRCm39) |
T3700N |
probably damaging |
Het |
| Gm14295 |
A |
C |
2: 176,501,469 (GRCm39) |
T320P |
probably damaging |
Het |
| Ido2 |
T |
G |
8: 25,023,970 (GRCm39) |
|
probably null |
Het |
| Ift140 |
T |
A |
17: 25,313,639 (GRCm39) |
S1357T |
probably benign |
Het |
| Insr |
T |
G |
8: 3,235,059 (GRCm39) |
E145A |
probably benign |
Het |
| Itpripl1 |
A |
G |
2: 126,983,327 (GRCm39) |
M265T |
probably benign |
Het |
| Kcnb1 |
G |
T |
2: 166,947,521 (GRCm39) |
N442K |
probably damaging |
Het |
| Kifc5b |
C |
A |
17: 27,144,488 (GRCm39) |
R536S |
probably damaging |
Het |
| Lpin2 |
C |
G |
17: 71,538,334 (GRCm39) |
P327A |
probably damaging |
Het |
| Lsm1 |
T |
C |
8: 26,292,065 (GRCm39) |
V114A |
probably benign |
Het |
| Map7d1 |
C |
T |
4: 126,128,846 (GRCm39) |
W218* |
probably null |
Het |
| N4bp2 |
T |
A |
5: 65,979,142 (GRCm39) |
|
probably null |
Het |
| Nt5el |
T |
A |
13: 105,246,214 (GRCm39) |
S258R |
probably damaging |
Het |
| Rheb |
A |
T |
5: 25,008,729 (GRCm39) |
I163K |
possibly damaging |
Het |
| Rph3a |
T |
C |
5: 121,101,897 (GRCm39) |
D113G |
probably damaging |
Het |
| Scn8a |
A |
G |
15: 100,927,663 (GRCm39) |
N1381D |
probably damaging |
Het |
| Sdsl |
T |
A |
5: 120,597,870 (GRCm39) |
N208Y |
possibly damaging |
Het |
| Serpinb9e |
A |
G |
13: 33,435,591 (GRCm39) |
N8S |
possibly damaging |
Het |
| Sox18 |
G |
A |
2: 181,313,017 (GRCm39) |
Q100* |
probably null |
Het |
| Taar8b |
C |
T |
10: 23,967,825 (GRCm39) |
C123Y |
probably damaging |
Het |
| Tas2r124 |
A |
G |
6: 132,731,858 (GRCm39) |
I56V |
possibly damaging |
Het |
| Tes |
C |
A |
6: 17,100,359 (GRCm39) |
H331N |
probably benign |
Het |
| Tmbim1 |
T |
G |
1: 74,334,524 (GRCm39) |
D12A |
probably damaging |
Het |
| Tmprss4 |
T |
C |
9: 45,086,841 (GRCm39) |
I307V |
possibly damaging |
Het |
| Ttll1 |
A |
T |
15: 83,386,374 (GRCm39) |
M77K |
probably null |
Het |
| Ttpal |
G |
A |
2: 163,455,671 (GRCm39) |
R220Q |
probably damaging |
Het |
| Vmn1r230 |
T |
A |
17: 21,067,625 (GRCm39) |
H271Q |
probably benign |
Het |
| Vmn2r32 |
A |
G |
7: 7,467,083 (GRCm39) |
I815T |
probably benign |
Het |
|
| Other mutations in Klf6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00952:Klf6
|
APN |
13 |
5,911,680 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01714:Klf6
|
APN |
13 |
5,916,658 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL02606:Klf6
|
APN |
13 |
5,916,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
H8786:Klf6
|
UTSW |
13 |
5,911,790 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0689:Klf6
|
UTSW |
13 |
5,915,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1174:Klf6
|
UTSW |
13 |
5,911,711 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1175:Klf6
|
UTSW |
13 |
5,911,711 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4706:Klf6
|
UTSW |
13 |
5,911,639 (GRCm39) |
start codon destroyed |
probably null |
0.66 |
|
R7982:Klf6
|
UTSW |
13 |
5,911,822 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8781:Klf6
|
UTSW |
13 |
5,915,071 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9021:Klf6
|
UTSW |
13 |
5,915,160 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9072:Klf6
|
UTSW |
13 |
5,917,233 (GRCm39) |
missense |
probably benign |
0.28 |
|
Z1177:Klf6
|
UTSW |
13 |
5,914,881 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTTTTGCACAGACCTGCCTG -3'
(R):5'- CCCCATAGTTGAGAAGATTCCCTG -3'
Sequencing Primer
(F):5'- CCTGGAGTTGGAACGCTATC -3'
(R):5'- AGAAGATTCCCTGTTCACTTCTGGAG -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation