Incidental Mutation 'R6698:Klf11'
| ID |
528659 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klf11
|
| Ensembl Gene |
ENSMUSG00000020653 |
| Gene Name |
Kruppel-like transcription factor 11 |
| Synonyms |
D12Ertd427e, Tieg3, Tieg2, Tieg2b |
| MMRRC Submission |
044816-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6698 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
24701370-24712781 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 24703618 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 18
(S18A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121730
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020982]
[ENSMUST00000139940]
[ENSMUST00000144046]
[ENSMUST00000146894]
|
| AlphaFold |
Q8K1S5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020982
AA Change: S35A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000020982
Gene: ENSMUSG00000020653
AA Change: S35A
| 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 damaging
Transcript: ENSMUST00000139940
AA Change: S18A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000144046
AA Change: S18A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000146894
AA Change: S18A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Meta Mutation Damage Score |
0.0830 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.0%
|
| Validation Efficiency |
95% (40/42) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Brca2 |
T |
C |
5: 150,455,859 (GRCm39) |
V200A |
probably damaging |
Het |
| Camk2g |
T |
A |
14: 20,792,776 (GRCm39) |
K393* |
probably null |
Het |
| Catsperb |
T |
A |
12: 101,475,466 (GRCm39) |
F337I |
probably damaging |
Het |
| Cdk17 |
T |
C |
10: 93,064,540 (GRCm39) |
Y270H |
probably damaging |
Het |
| Col5a3 |
C |
T |
9: 20,690,329 (GRCm39) |
G1162R |
probably damaging |
Het |
| Col6a5 |
T |
A |
9: 105,811,374 (GRCm39) |
N715I |
unknown |
Het |
| Fancg |
A |
G |
4: 43,007,034 (GRCm39) |
S248P |
probably benign |
Het |
| Flvcr1 |
T |
C |
1: 190,757,929 (GRCm39) |
Y79C |
probably damaging |
Het |
| Gabrp |
A |
G |
11: 33,507,017 (GRCm39) |
S198P |
probably damaging |
Het |
| Gask1b |
A |
G |
3: 79,843,902 (GRCm39) |
I10V |
probably damaging |
Het |
| Glp1r |
A |
G |
17: 31,155,375 (GRCm39) |
Y454C |
probably damaging |
Het |
| Gpr158 |
A |
C |
2: 21,831,921 (GRCm39) |
D1007A |
probably damaging |
Het |
| Gsdmc3 |
A |
G |
15: 63,732,120 (GRCm39) |
F302S |
possibly damaging |
Het |
| Gsdmc4 |
T |
A |
15: 63,765,613 (GRCm39) |
D312V |
probably benign |
Het |
| Itga5 |
T |
C |
15: 103,259,808 (GRCm39) |
Y663C |
probably benign |
Het |
| Kif1b |
A |
T |
4: 149,359,413 (GRCm39) |
M108K |
probably damaging |
Het |
| Lmtk2 |
T |
C |
5: 144,111,737 (GRCm39) |
V819A |
probably benign |
Het |
| Lrba |
A |
G |
3: 86,211,732 (GRCm39) |
M451V |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 41,192,958 (GRCm39) |
D488G |
probably damaging |
Het |
| Mark4 |
T |
C |
7: 19,163,362 (GRCm39) |
N589S |
probably benign |
Het |
| Mis12 |
T |
C |
11: 70,916,012 (GRCm39) |
F15S |
probably damaging |
Het |
| Nif3l1 |
A |
G |
1: 58,489,648 (GRCm39) |
D179G |
probably benign |
Het |
| Nlrx1 |
A |
G |
9: 44,177,104 (GRCm39) |
W3R |
probably damaging |
Het |
| Nup210l |
G |
A |
3: 90,089,815 (GRCm39) |
S1194N |
possibly damaging |
Het |
| Or13m2-ps1 |
A |
T |
6: 42,778,136 (GRCm39) |
T154S |
probably benign |
Het |
| Or5d20-ps1 |
A |
G |
2: 87,931,561 (GRCm39) |
F257L |
unknown |
Het |
| Pnkd |
T |
A |
1: 74,389,836 (GRCm39) |
L320Q |
probably damaging |
Het |
| Prkn |
A |
G |
17: 11,286,183 (GRCm39) |
|
probably null |
Het |
| Rcc2 |
G |
A |
4: 140,429,586 (GRCm39) |
C40Y |
probably benign |
Homo |
| Rilpl2 |
C |
T |
5: 124,607,843 (GRCm39) |
E126K |
probably damaging |
Het |
| Rpn2 |
T |
C |
2: 157,139,330 (GRCm39) |
I208T |
possibly damaging |
Het |
| Skint4 |
G |
T |
4: 111,977,096 (GRCm39) |
C170F |
probably damaging |
Het |
| Synj1 |
C |
G |
16: 90,757,340 (GRCm39) |
V877L |
probably damaging |
Het |
| Tcp11 |
A |
T |
17: 28,290,804 (GRCm39) |
I106N |
possibly damaging |
Het |
| Tg |
A |
G |
15: 66,711,211 (GRCm39) |
Y991C |
probably damaging |
Het |
| Trib3 |
A |
G |
2: 152,180,339 (GRCm39) |
S285P |
probably damaging |
Het |
| Wdr49 |
A |
T |
3: 75,336,673 (GRCm39) |
W345R |
probably benign |
Het |
| Wnt5a |
A |
G |
14: 28,240,420 (GRCm39) |
Y190C |
possibly damaging |
Het |
| Xpo1 |
A |
G |
11: 23,244,040 (GRCm39) |
E955G |
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 |
|
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 |
|
|
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'- AGCCCAGTCTTCAGAGCTTG -3'
(R):5'- CCTTTGGTAGATCAGGTGCAG -3'
Sequencing Primer
(F):5'- TCCAAGACAGAGACCATTGCTTTG -3'
(R):5'- TGCAGCTGTGTCCATAAGCAC -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation