Incidental Mutation 'R5483:Klf11'
ID |
434440 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Klf11
|
Ensembl Gene |
ENSMUSG00000020653 |
Gene Name |
Kruppel-like transcription factor 11 |
Synonyms |
D12Ertd427e, Tieg3, Tieg2, Tieg2b |
MMRRC Submission |
043044-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5483 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
24701370-24712781 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 24705410 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Stop codon
at position 288
(L288*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020982
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020982]
[ENSMUST00000139940]
[ENSMUST00000144046]
[ENSMUST00000146894]
|
AlphaFold |
Q8K1S5 |
Predicted Effect |
probably null
Transcript: ENSMUST00000020982
AA Change: L288*
|
SMART Domains |
Protein: ENSMUSP00000020982 Gene: ENSMUSG00000020653 AA Change: L288*
Domain | Start | End | E-Value | Type |
low complexity region
|
267 |
275 |
N/A |
INTRINSIC |
low complexity region
|
356 |
367 |
N/A |
INTRINSIC |
ZnF_C2H2
|
384 |
408 |
5.9e-3 |
SMART |
ZnF_C2H2
|
414 |
438 |
9.22e-5 |
SMART |
ZnF_C2H2
|
444 |
466 |
1.38e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000139940
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000144046
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146894
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 97.5%
- 10x: 94.8%
- 20x: 89.2%
|
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 zinc finger transcription factor that binds to SP1-like sequences in epsilon- and gamma-globin gene promoters. This binding inhibits cell growth and causes apoptosis. Defects in this gene are a cause of maturity-onset diabetes of the young type 7 (MODY7). Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Apr 2010] PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile, show normal hematopoiesis, growth and development, and display no evidence of increased tumor formation following gamma-irradiation. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cfap206 |
G |
T |
4: 34,711,404 (GRCm39) |
Q498K |
probably benign |
Het |
Dnmt3a |
A |
G |
12: 3,949,615 (GRCm39) |
Y524C |
probably damaging |
Het |
Dnttip2 |
A |
T |
3: 122,070,446 (GRCm39) |
T554S |
probably damaging |
Het |
Emc1 |
A |
G |
4: 139,102,687 (GRCm39) |
T949A |
probably damaging |
Het |
Enkur |
A |
T |
2: 21,199,109 (GRCm39) |
F142I |
probably benign |
Het |
Fbxo24 |
C |
T |
5: 137,617,002 (GRCm39) |
A362T |
probably damaging |
Het |
Heatr1 |
A |
G |
13: 12,413,795 (GRCm39) |
H124R |
probably damaging |
Het |
Hira |
T |
A |
16: 18,788,290 (GRCm39) |
I1011N |
possibly damaging |
Het |
Ipo5 |
T |
A |
14: 121,157,450 (GRCm39) |
I96N |
probably benign |
Het |
Kctd16 |
A |
G |
18: 40,663,929 (GRCm39) |
I353V |
probably benign |
Het |
Kmt2a |
A |
T |
9: 44,735,921 (GRCm39) |
|
probably benign |
Het |
Lmbrd1 |
T |
C |
1: 24,783,989 (GRCm39) |
Y373H |
probably damaging |
Het |
Mlh1 |
G |
A |
9: 111,060,126 (GRCm39) |
A584V |
possibly damaging |
Het |
Ociad1 |
T |
C |
5: 73,452,314 (GRCm39) |
F35S |
probably damaging |
Het |
Or11l3 |
T |
A |
11: 58,516,783 (GRCm39) |
I30F |
possibly damaging |
Het |
Or6c208 |
T |
C |
10: 129,223,526 (GRCm39) |
I8T |
probably benign |
Het |
Or8u3-ps |
C |
T |
2: 85,952,962 (GRCm39) |
Q232* |
probably null |
Het |
Pkd1l1 |
C |
T |
11: 8,851,141 (GRCm39) |
|
probably null |
Het |
Pole |
T |
A |
5: 110,442,434 (GRCm39) |
D287E |
probably damaging |
Het |
Polh |
G |
T |
17: 46,483,671 (GRCm39) |
S531R |
probably benign |
Het |
Prss29 |
A |
G |
17: 25,541,177 (GRCm39) |
K207R |
probably benign |
Het |
Rasgrp3 |
T |
G |
17: 75,832,013 (GRCm39) |
S611R |
probably damaging |
Het |
Rffl |
G |
T |
11: 82,703,549 (GRCm39) |
|
probably null |
Het |
Scrib |
A |
G |
15: 75,939,508 (GRCm39) |
|
probably null |
Het |
Serpinb3a |
T |
A |
1: 106,974,899 (GRCm39) |
K211N |
probably benign |
Het |
Slc22a3 |
C |
T |
17: 12,683,354 (GRCm39) |
A170T |
probably damaging |
Het |
Socs5 |
T |
G |
17: 87,442,402 (GRCm39) |
F447L |
probably damaging |
Het |
Srrm2 |
T |
A |
17: 24,040,246 (GRCm39) |
S2393T |
probably damaging |
Het |
Usp7 |
T |
A |
16: 8,516,404 (GRCm39) |
Y585F |
probably benign |
Het |
Vps39 |
A |
T |
2: 120,153,564 (GRCm39) |
I670N |
probably benign |
Het |
|
Other mutations in Klf11 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01630:Klf11
|
APN |
12 |
24,710,368 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02202:Klf11
|
APN |
12 |
24,703,631 (GRCm39) |
missense |
probably benign |
0.37 |
IGL02527:Klf11
|
APN |
12 |
24,705,322 (GRCm39) |
missense |
probably benign |
0.31 |
IGL02964:Klf11
|
APN |
12 |
24,705,626 (GRCm39) |
missense |
probably damaging |
1.00 |
R0254:Klf11
|
UTSW |
12 |
24,703,582 (GRCm39) |
missense |
probably damaging |
1.00 |
R0553:Klf11
|
UTSW |
12 |
24,705,089 (GRCm39) |
missense |
probably benign |
0.12 |
R0739:Klf11
|
UTSW |
12 |
24,710,247 (GRCm39) |
missense |
probably damaging |
1.00 |
R1584:Klf11
|
UTSW |
12 |
24,705,304 (GRCm39) |
missense |
probably damaging |
1.00 |
R1592:Klf11
|
UTSW |
12 |
24,703,737 (GRCm39) |
missense |
probably damaging |
1.00 |
R2356:Klf11
|
UTSW |
12 |
24,703,582 (GRCm39) |
missense |
probably damaging |
1.00 |
R3085:Klf11
|
UTSW |
12 |
24,705,490 (GRCm39) |
missense |
probably benign |
|
R4690:Klf11
|
UTSW |
12 |
24,705,071 (GRCm39) |
missense |
probably damaging |
0.97 |
R5023:Klf11
|
UTSW |
12 |
24,705,358 (GRCm39) |
missense |
probably benign |
0.00 |
R5528:Klf11
|
UTSW |
12 |
24,704,929 (GRCm39) |
missense |
probably benign |
0.00 |
R6148:Klf11
|
UTSW |
12 |
24,701,567 (GRCm39) |
critical splice donor site |
probably null |
|
R6698:Klf11
|
UTSW |
12 |
24,703,618 (GRCm39) |
missense |
probably damaging |
1.00 |
R6799:Klf11
|
UTSW |
12 |
24,705,638 (GRCm39) |
missense |
possibly damaging |
0.59 |
R7317:Klf11
|
UTSW |
12 |
24,705,518 (GRCm39) |
missense |
possibly damaging |
0.59 |
R7384:Klf11
|
UTSW |
12 |
24,703,742 (GRCm39) |
missense |
probably damaging |
0.97 |
R7440:Klf11
|
UTSW |
12 |
24,705,490 (GRCm39) |
missense |
probably benign |
|
R7473:Klf11
|
UTSW |
12 |
24,705,141 (GRCm39) |
splice site |
probably null |
|
R7477:Klf11
|
UTSW |
12 |
24,703,562 (GRCm39) |
missense |
probably benign |
0.01 |
R7658:Klf11
|
UTSW |
12 |
24,703,670 (GRCm39) |
missense |
probably damaging |
1.00 |
R9378:Klf11
|
UTSW |
12 |
24,705,043 (GRCm39) |
missense |
probably benign |
0.01 |
R9479:Klf11
|
UTSW |
12 |
24,705,029 (GRCm39) |
missense |
probably benign |
0.10 |
R9663:Klf11
|
UTSW |
12 |
24,705,731 (GRCm39) |
missense |
probably damaging |
1.00 |
R9721:Klf11
|
UTSW |
12 |
24,710,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TTGCACAAGTCCGGTGGTTC -3'
(R):5'- GGGGCAACAGCTTGGTATTTC -3'
Sequencing Primer
(F):5'- GTTCGTTCCCCACTGACAAAGG -3'
(R):5'- GGTATTTCCAATGGCCATGACACTG -3'
|
Posted On |
2016-10-06 |