Incidental Mutation 'R9479:Klf11'
ID |
716137 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Klf11
|
Ensembl Gene |
ENSMUSG00000020653 |
Gene Name |
Kruppel-like transcription factor 11 |
Synonyms |
D12Ertd427e, Tieg3, Tieg2, Tieg2b |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9479 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
24701370-24712781 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 24705029 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 161
(M161T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020982
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020982]
[ENSMUST00000139940]
[ENSMUST00000144046]
[ENSMUST00000146894]
|
AlphaFold |
Q8K1S5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020982
AA Change: M161T
PolyPhen 2
Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000020982 Gene: ENSMUSG00000020653 AA Change: M161T
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
AA Change: M144T
PolyPhen 2
Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146894
AA Change: M144T
PolyPhen 2
Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
|
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.] 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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aox3 |
A |
G |
1: 58,177,568 (GRCm39) |
Y261C |
probably benign |
Het |
Arhgef10 |
T |
C |
8: 15,047,632 (GRCm39) |
V1165A |
probably damaging |
Het |
Arih2 |
C |
G |
9: 108,488,938 (GRCm39) |
R260P |
probably damaging |
Het |
Bhmt2 |
G |
A |
13: 93,799,833 (GRCm39) |
A201V |
probably damaging |
Het |
Ccdc115 |
A |
T |
1: 34,476,895 (GRCm39) |
S115T |
possibly damaging |
Het |
Clca4b |
A |
G |
3: 144,617,100 (GRCm39) |
V850A |
probably benign |
Het |
Commd8 |
A |
T |
5: 72,318,350 (GRCm39) |
H144Q |
probably benign |
Het |
Creb3l1 |
C |
T |
2: 91,822,231 (GRCm39) |
|
probably null |
Het |
Csnka2ip |
T |
C |
16: 64,298,262 (GRCm39) |
K701E |
unknown |
Het |
Cyb5d2 |
A |
G |
11: 72,669,702 (GRCm39) |
C219R |
|
Het |
Ep400 |
T |
C |
5: 110,877,730 (GRCm39) |
T835A |
unknown |
Het |
Fam169a |
A |
G |
13: 97,246,543 (GRCm39) |
Y228C |
possibly damaging |
Het |
Fam169a |
A |
G |
13: 97,250,695 (GRCm39) |
D342G |
possibly damaging |
Het |
Fbxw21 |
A |
T |
9: 108,968,612 (GRCm39) |
C455S |
probably benign |
Het |
Fbxw26 |
A |
G |
9: 109,561,625 (GRCm39) |
S190P |
probably damaging |
Het |
Gabra5 |
A |
G |
7: 57,058,440 (GRCm39) |
I436T |
|
Het |
Gm9767 |
G |
A |
10: 25,954,916 (GRCm39) |
G156D |
|
Het |
Grid1 |
G |
A |
14: 35,043,664 (GRCm39) |
D340N |
probably damaging |
Het |
Gsn |
T |
C |
2: 35,186,227 (GRCm39) |
|
probably null |
Het |
Hao1 |
A |
G |
2: 134,396,204 (GRCm39) |
S17P |
probably benign |
Het |
Hspa1l |
A |
G |
17: 35,196,735 (GRCm39) |
N258S |
probably benign |
Het |
Isyna1 |
C |
T |
8: 71,048,193 (GRCm39) |
R200C |
probably damaging |
Het |
Itgb2 |
A |
T |
10: 77,396,942 (GRCm39) |
K659M |
probably benign |
Het |
Ktn1 |
A |
T |
14: 47,962,174 (GRCm39) |
K1114N |
probably damaging |
Het |
Lonrf1 |
G |
A |
8: 36,697,668 (GRCm39) |
R439* |
probably null |
Het |
Lrrc26 |
C |
T |
2: 25,180,571 (GRCm39) |
P191S |
probably benign |
Het |
Ogdh |
T |
C |
11: 6,297,854 (GRCm39) |
I576T |
possibly damaging |
Het |
Or10al4 |
T |
C |
17: 38,036,986 (GRCm39) |
S24P |
probably damaging |
Het |
Or14c45 |
T |
C |
7: 86,176,285 (GRCm39) |
C107R |
possibly damaging |
Het |
Or14j4 |
A |
G |
17: 37,920,718 (GRCm39) |
F308S |
probably damaging |
Het |
Or4k40 |
A |
T |
2: 111,251,013 (GRCm39) |
F94L |
probably damaging |
Het |
Or4p20 |
T |
C |
2: 88,253,677 (GRCm39) |
R231G |
probably damaging |
Het |
Or7g20 |
G |
A |
9: 18,946,730 (GRCm39) |
V104I |
probably benign |
Het |
Pcnt |
A |
G |
10: 76,217,963 (GRCm39) |
V2104A |
probably benign |
Het |
Pds5a |
G |
A |
5: 65,792,747 (GRCm39) |
R729W |
probably damaging |
Het |
Pgap1 |
G |
A |
1: 54,582,275 (GRCm39) |
Q191* |
probably null |
Het |
Pglyrp3 |
A |
G |
3: 91,935,310 (GRCm39) |
I187V |
probably benign |
Het |
Pkdrej |
T |
A |
15: 85,699,571 (GRCm39) |
I2122F |
possibly damaging |
Het |
Pold1 |
G |
A |
7: 44,191,079 (GRCm39) |
R251W |
probably damaging |
Het |
Prr22 |
A |
G |
17: 57,078,335 (GRCm39) |
M163V |
probably benign |
Het |
Ptprc |
A |
T |
1: 138,001,388 (GRCm39) |
N814K |
probably benign |
Het |
Rapgef2 |
G |
A |
3: 79,019,495 (GRCm39) |
L59F |
probably damaging |
Het |
Rbm22 |
T |
C |
18: 60,699,492 (GRCm39) |
L147P |
probably damaging |
Het |
Rgsl1 |
G |
A |
1: 153,657,445 (GRCm39) |
S391F |
unknown |
Het |
Rnf13 |
A |
T |
3: 57,727,983 (GRCm39) |
D221V |
possibly damaging |
Het |
Senp2 |
T |
A |
16: 21,842,398 (GRCm39) |
L154Q |
probably damaging |
Het |
Srfbp1 |
A |
G |
18: 52,621,332 (GRCm39) |
Q131R |
possibly damaging |
Het |
Tmprss11a |
A |
T |
5: 86,562,402 (GRCm39) |
Y314* |
probably null |
Het |
Ttn |
G |
T |
2: 76,666,286 (GRCm39) |
P11590Q |
unknown |
Het |
Txnrd3 |
C |
T |
6: 89,640,084 (GRCm39) |
T266M |
possibly damaging |
Het |
Zfp810 |
T |
C |
9: 22,194,497 (GRCm39) |
S64G |
possibly damaging |
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 |
R5483:Klf11
|
UTSW |
12 |
24,705,410 (GRCm39) |
nonsense |
probably null |
|
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 |
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'- ACAACCTTTGATGTGGTGCTG -3'
(R):5'- ACCAAGTTAGTGACGAGTAAGCC -3'
Sequencing Primer
(F):5'- AGTGTATAACTCCTCCTCAGAGC -3'
(R):5'- TAAGCCATTTGCCAAGCGTG -3'
|
Posted On |
2022-07-18 |