Incidental Mutation 'R7617:Klf10'
| ID |
588974 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klf10
|
| Ensembl Gene |
ENSMUSG00000037465 |
| Gene Name |
Kruppel-like transcription factor 10 |
| Synonyms |
Tieg1, Gdnfif, Egral, mGIF |
| MMRRC Submission |
045684-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.694)
|
| Stock # |
R7617 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
38291707-38300950 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 38297080 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 320
(V320E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073690
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074043]
[ENSMUST00000226363]
[ENSMUST00000227920]
[ENSMUST00000228416]
[ENSMUST00000228732]
[ENSMUST00000228772]
|
| AlphaFold |
O89091 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000074043
AA Change: V320E
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000073690
Gene: ENSMUSG00000037465
AA Change: V320E
| 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 |
probably damaging
Transcript: ENSMUST00000226363
AA Change: V305E
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227920
AA Change: V320E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228416
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228732
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228772
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (41/42) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
T |
G |
7: 120,102,694 (GRCm39) |
Y864* |
probably null |
Het |
| Abhd2 |
T |
C |
7: 78,998,032 (GRCm39) |
M188T |
probably benign |
Het |
| Adamtsl3 |
T |
A |
7: 82,206,054 (GRCm39) |
|
probably null |
Het |
| Ankrd36 |
G |
T |
11: 5,637,348 (GRCm39) |
V1306L |
probably benign |
Het |
| Ankrd50 |
C |
A |
3: 38,538,831 (GRCm39) |
|
probably benign |
Het |
| Btbd2 |
T |
C |
10: 80,482,226 (GRCm39) |
D258G |
probably damaging |
Het |
| Cabin1 |
C |
T |
10: 75,568,277 (GRCm39) |
R75K |
possibly damaging |
Het |
| Carmil3 |
A |
G |
14: 55,735,348 (GRCm39) |
N507S |
probably benign |
Het |
| Cntn1 |
A |
G |
15: 92,143,970 (GRCm39) |
E311G |
probably damaging |
Het |
| Csnk1a1 |
T |
C |
18: 61,718,387 (GRCm39) |
M371T |
unknown |
Het |
| Dnah1 |
A |
T |
14: 31,006,739 (GRCm39) |
V2192E |
possibly damaging |
Het |
| Entrep3 |
T |
A |
3: 89,092,278 (GRCm39) |
I199N |
probably damaging |
Het |
| Grip2 |
A |
C |
6: 91,742,031 (GRCm39) |
|
probably null |
Het |
| Gxylt2 |
G |
T |
6: 100,760,146 (GRCm39) |
W227L |
probably damaging |
Het |
| Ighv6-5 |
G |
T |
12: 114,380,626 (GRCm39) |
|
probably benign |
Het |
| Jak1 |
T |
A |
4: 101,031,408 (GRCm39) |
|
probably null |
Het |
| Jakmip1 |
A |
G |
5: 37,328,345 (GRCm39) |
D393G |
possibly damaging |
Het |
| Krt87 |
A |
T |
15: 101,336,426 (GRCm39) |
C76S |
probably benign |
Het |
| Myh1 |
A |
G |
11: 67,106,701 (GRCm39) |
D1261G |
possibly damaging |
Het |
| Myo18b |
A |
C |
5: 112,905,319 (GRCm39) |
|
probably null |
Het |
| Or4c124 |
T |
A |
2: 89,155,723 (GRCm39) |
D267V |
probably damaging |
Het |
| Oxct2a |
A |
C |
4: 123,217,150 (GRCm39) |
L77R |
probably damaging |
Het |
| P2rx2 |
A |
T |
5: 110,489,950 (GRCm39) |
C172S |
probably damaging |
Het |
| P3h3 |
A |
G |
6: 124,832,969 (GRCm39) |
Y195H |
probably damaging |
Het |
| Pex11b |
T |
C |
3: 96,544,107 (GRCm39) |
|
probably null |
Het |
| Ppm1j |
T |
A |
3: 104,691,059 (GRCm39) |
Y274* |
probably null |
Het |
| Scn9a |
A |
T |
2: 66,370,893 (GRCm39) |
D562E |
possibly damaging |
Het |
| Slc14a2 |
A |
G |
18: 78,203,156 (GRCm39) |
V557A |
probably benign |
Het |
| Slc9b2 |
T |
C |
3: 135,042,221 (GRCm39) |
I500T |
probably damaging |
Het |
| Sult2a3 |
C |
T |
7: 13,806,981 (GRCm39) |
V234I |
probably benign |
Het |
| Tcp10c |
T |
G |
17: 13,576,100 (GRCm39) |
L27V |
probably damaging |
Het |
| Tktl2 |
A |
G |
8: 66,965,651 (GRCm39) |
D403G |
probably benign |
Het |
| Tmprss13 |
G |
A |
9: 45,244,858 (GRCm39) |
W212* |
probably null |
Het |
| Tspoap1 |
T |
G |
11: 87,654,451 (GRCm39) |
S244A |
probably benign |
Het |
| Upb1 |
A |
C |
10: 75,260,368 (GRCm39) |
T136P |
probably benign |
Het |
| Wdr25 |
G |
A |
12: 108,958,819 (GRCm39) |
G344S |
possibly damaging |
Het |
| Wwp1 |
T |
C |
4: 19,662,188 (GRCm39) |
T136A |
probably benign |
Het |
| Zfp354a |
A |
G |
11: 50,960,751 (GRCm39) |
T320A |
probably benign |
Het |
| Zfyve16 |
A |
G |
13: 92,641,070 (GRCm39) |
Y1225H |
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 |
|
IGL02168:Klf10
|
APN |
15 |
38,297,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTAAAGTAAGTCTTGCCACACCC -3'
(R):5'- CCCAGTGCAGAAGTCAGTAC -3'
Sequencing Primer
(F):5'- CCTGGGTGGCTACAGATGTGAC -3'
(R):5'- CAGAAGTCAGTACTGGTGTCTTCAC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation