Incidental Mutation 'IGL02168:Klf10'
| ID |
282799 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Klf10
|
| Ensembl Gene |
ENSMUSG00000037465 |
| Gene Name |
Kruppel-like transcription factor 10 |
| Synonyms |
Tieg1, Gdnfif, Egral, mGIF |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.694)
|
| Stock # |
IGL02168
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
38291707-38300950 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 38297085 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 318
(F318L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154265
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074043]
[ENSMUST00000226363]
[ENSMUST00000227920]
[ENSMUST00000228416]
[ENSMUST00000228732]
[ENSMUST00000228772]
|
| AlphaFold |
O89091 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000074043
AA Change: F318L
PolyPhen 2
Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000073690
Gene: ENSMUSG00000037465
AA Change: F318L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
134 |
149 |
N/A |
INTRINSIC |
|
low complexity region
|
285 |
298 |
N/A |
INTRINSIC |
|
low complexity region
|
316 |
336 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
368 |
392 |
1.56e-2 |
SMART |
|
ZnF_C2H2
|
398 |
422 |
5.99e-4 |
SMART |
|
ZnF_C2H2
|
428 |
450 |
3.63e-3 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000226363
AA Change: F303L
PolyPhen 2
Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227920
AA Change: F318L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228416
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228732
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228772
|
| Coding Region Coverage |
|
| 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 a family of proteins that feature C2H2-type zinc finger domains. The encoded protein is a transcriptional repressor that acts as an effector of transforming growth factor beta signaling. Activity of this protein may inhibit the growth of cancers, particularly pancreatic cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]
PHENOTYPE: Homozygous mutants display increased osteoblast formation and impaired osteoblast function. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010007H06Rik |
T |
C |
9: 51,191,801 (GRCm39) |
|
probably benign |
Het |
| 6030468B19Rik |
T |
A |
11: 117,689,244 (GRCm39) |
|
probably benign |
Het |
| Ankra2 |
G |
A |
13: 98,409,882 (GRCm39) |
|
probably benign |
Het |
| Astn1 |
C |
A |
1: 158,436,911 (GRCm39) |
A823E |
possibly damaging |
Het |
| Cfap43 |
T |
C |
19: 47,740,362 (GRCm39) |
|
probably benign |
Het |
| Clec4b2 |
T |
A |
6: 123,181,156 (GRCm39) |
N180K |
probably damaging |
Het |
| Col7a1 |
A |
G |
9: 108,813,143 (GRCm39) |
|
probably benign |
Het |
| Dhrs7c |
T |
C |
11: 67,706,693 (GRCm39) |
F284L |
probably benign |
Het |
| Dock1 |
T |
C |
7: 134,678,860 (GRCm39) |
|
probably benign |
Het |
| Entpd5 |
A |
T |
12: 84,433,752 (GRCm39) |
|
probably null |
Het |
| Heatr5b |
A |
T |
17: 79,139,020 (GRCm39) |
|
probably benign |
Het |
| Kdm3a |
A |
G |
6: 71,577,101 (GRCm39) |
V738A |
probably damaging |
Het |
| Mcc |
A |
C |
18: 44,582,366 (GRCm39) |
I770S |
probably damaging |
Het |
| Muc19 |
C |
T |
15: 91,778,292 (GRCm39) |
|
noncoding transcript |
Het |
| Or9a4 |
A |
T |
6: 40,548,317 (GRCm39) |
|
probably benign |
Het |
| Pcdh17 |
A |
G |
14: 84,770,635 (GRCm39) |
T1038A |
probably benign |
Het |
| Pole2 |
A |
G |
12: 69,248,660 (GRCm39) |
|
probably benign |
Het |
| Polr2c |
A |
G |
8: 95,584,394 (GRCm39) |
R36G |
probably damaging |
Het |
| Ptgs2 |
A |
G |
1: 149,979,430 (GRCm39) |
|
probably null |
Het |
| Scart1 |
A |
T |
7: 139,803,399 (GRCm39) |
H321L |
probably benign |
Het |
| Taf5 |
A |
G |
19: 47,070,917 (GRCm39) |
D747G |
probably damaging |
Het |
| Tll1 |
T |
G |
8: 64,507,001 (GRCm39) |
K580T |
possibly damaging |
Het |
| Tmc3 |
A |
T |
7: 83,269,203 (GRCm39) |
N768I |
possibly damaging |
Het |
| Top1 |
G |
T |
2: 160,546,893 (GRCm39) |
|
probably null |
Het |
| Ubtf |
T |
C |
11: 102,204,994 (GRCm39) |
K97E |
probably damaging |
Het |
| Vcl |
T |
C |
14: 21,057,355 (GRCm39) |
V509A |
probably benign |
Het |
| Vmn2r110 |
A |
T |
17: 20,804,062 (GRCm39) |
|
probably benign |
Het |
| Zfp106 |
A |
G |
2: 120,364,712 (GRCm39) |
V565A |
possibly damaging |
Het |
| Zfp458 |
A |
T |
13: 67,406,098 (GRCm39) |
C111S |
probably damaging |
Het |
|
| Other mutations in Klf10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01934:Klf10
|
APN |
15 |
38,297,528 (GRCm39) |
missense |
probably benign |
0.35 |
|
IGL02444:Klf10
|
APN |
15 |
38,298,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0360:Klf10
|
UTSW |
15 |
38,297,090 (GRCm39) |
missense |
probably benign |
|
|
R1544:Klf10
|
UTSW |
15 |
38,297,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1961:Klf10
|
UTSW |
15 |
38,296,240 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2301:Klf10
|
UTSW |
15 |
38,297,326 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R2517:Klf10
|
UTSW |
15 |
38,297,357 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5217:Klf10
|
UTSW |
15 |
38,296,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5498:Klf10
|
UTSW |
15 |
38,296,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5994:Klf10
|
UTSW |
15 |
38,296,285 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6086:Klf10
|
UTSW |
15 |
38,297,181 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7386:Klf10
|
UTSW |
15 |
38,297,193 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7474:Klf10
|
UTSW |
15 |
38,297,446 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7579:Klf10
|
UTSW |
15 |
38,297,282 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7617:Klf10
|
UTSW |
15 |
38,297,080 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9269:Klf10
|
UTSW |
15 |
38,298,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9459:Klf10
|
UTSW |
15 |
38,296,171 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2015-04-16 |
Incidental Mutation