Incidental Mutation 'R3844:Klhl11'
| ID |
277289 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klhl11
|
| Ensembl Gene |
ENSMUSG00000048732 |
| Gene Name |
kelch-like 11 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.317)
|
| Stock # |
R3844 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
100353440-100363567 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 100363133 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 141
(M141K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054963
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007131]
[ENSMUST00000056665]
[ENSMUST00000107389]
[ENSMUST00000165111]
|
| AlphaFold |
Q8CE33 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000007131
|
| SMART Domains |
Protein: ENSMUSP00000007131
Gene: ENSMUSG00000020917
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ATP-grasp_2
|
6 |
207 |
2.4e-8 |
PFAM |
|
low complexity region
|
441 |
457 |
N/A |
INTRINSIC |
|
low complexity region
|
465 |
475 |
N/A |
INTRINSIC |
|
Pfam:CoA_binding
|
484 |
590 |
3.9e-14 |
PFAM |
|
Pfam:Ligase_CoA
|
650 |
775 |
1.2e-16 |
PFAM |
|
Pfam:Citrate_synt
|
868 |
1076 |
4.8e-22 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000056665
AA Change: M141K
PolyPhen 2
Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000054963
Gene: ENSMUSG00000048732
AA Change: M141K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
BTB
|
95 |
201 |
2.69e-21 |
SMART |
|
BACK
|
206 |
308 |
9.54e-26 |
SMART |
|
Kelch
|
361 |
408 |
4.1e0 |
SMART |
|
Kelch
|
409 |
454 |
2.61e-1 |
SMART |
|
Kelch
|
455 |
502 |
2.17e-1 |
SMART |
|
Kelch
|
611 |
662 |
1.39e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107389
|
| SMART Domains |
Protein: ENSMUSP00000103012
Gene: ENSMUSG00000020917
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Citrate_bind
|
244 |
421 |
1.7e-94 |
PFAM |
|
low complexity region
|
441 |
457 |
N/A |
INTRINSIC |
|
low complexity region
|
465 |
475 |
N/A |
INTRINSIC |
|
Pfam:CoA_binding
|
494 |
600 |
6.6e-15 |
PFAM |
|
Pfam:Ligase_CoA
|
660 |
785 |
2.1e-16 |
PFAM |
|
Pfam:Citrate_synt
|
879 |
1085 |
2e-21 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154151
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165111
|
| SMART Domains |
Protein: ENSMUSP00000127632
Gene: ENSMUSG00000020917
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ATP-grasp_2
|
6 |
207 |
2.4e-8 |
PFAM |
|
low complexity region
|
441 |
457 |
N/A |
INTRINSIC |
|
low complexity region
|
465 |
475 |
N/A |
INTRINSIC |
|
Pfam:CoA_binding
|
484 |
590 |
3.9e-14 |
PFAM |
|
Pfam:Ligase_CoA
|
650 |
775 |
1.2e-16 |
PFAM |
|
Pfam:Citrate_synt
|
868 |
1076 |
4.8e-22 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730071L15Rik |
A |
T |
11: 6,150,032 (GRCm39) |
R2* |
probably null |
Het |
| Acaca |
T |
A |
11: 84,255,239 (GRCm39) |
D1932E |
probably damaging |
Het |
| Adam5 |
T |
A |
8: 25,303,426 (GRCm39) |
D167V |
probably benign |
Het |
| Amt |
C |
T |
9: 108,174,420 (GRCm39) |
R62C |
possibly damaging |
Het |
| Aqp11 |
T |
A |
7: 97,387,046 (GRCm39) |
E50V |
probably damaging |
Het |
| Arid4b |
C |
T |
13: 14,361,645 (GRCm39) |
S703L |
probably damaging |
Het |
| Ccl25 |
T |
G |
8: 4,404,183 (GRCm39) |
V179G |
possibly damaging |
Het |
| Clk2 |
A |
G |
3: 89,077,710 (GRCm39) |
N222S |
probably benign |
Het |
| Col13a1 |
C |
T |
10: 61,685,988 (GRCm39) |
G668D |
unknown |
Het |
| Col20a1 |
A |
G |
2: 180,634,242 (GRCm39) |
E69G |
probably damaging |
Het |
| Dcc |
G |
A |
18: 71,959,257 (GRCm39) |
H172Y |
probably benign |
Het |
| Dock8 |
T |
G |
19: 25,042,794 (GRCm39) |
Y125* |
probably null |
Het |
| E2f1 |
A |
G |
2: 154,402,748 (GRCm39) |
S340P |
probably benign |
Het |
| Fars2 |
T |
C |
13: 36,389,084 (GRCm39) |
F191S |
probably damaging |
Het |
| Filip1l |
T |
C |
16: 57,392,790 (GRCm39) |
V888A |
probably benign |
Het |
| Fn1 |
T |
A |
1: 71,648,733 (GRCm39) |
H1392L |
possibly damaging |
Het |
| Fsip2 |
C |
T |
2: 82,819,950 (GRCm39) |
H5228Y |
possibly damaging |
Het |
| Galnt14 |
A |
G |
17: 74,016,924 (GRCm39) |
|
probably null |
Het |
| Grm8 |
A |
T |
6: 27,429,507 (GRCm39) |
N462K |
possibly damaging |
Het |
| Ireb2 |
A |
G |
9: 54,799,789 (GRCm39) |
E410G |
probably damaging |
Het |
| Kdm2b |
A |
T |
5: 123,072,856 (GRCm39) |
Y341N |
probably damaging |
Het |
| Kdm7a |
T |
A |
6: 39,158,513 (GRCm39) |
I77F |
probably damaging |
Het |
| Lactbl1 |
A |
G |
4: 136,365,271 (GRCm39) |
H541R |
possibly damaging |
Het |
| Mylk |
A |
G |
16: 34,742,247 (GRCm39) |
M920V |
probably benign |
Het |
| Or2w1b |
A |
G |
13: 21,300,233 (GRCm39) |
T124A |
possibly damaging |
Het |
| Piwil4 |
T |
A |
9: 14,641,256 (GRCm39) |
T179S |
possibly damaging |
Het |
| Ranbp2 |
T |
C |
10: 58,313,717 (GRCm39) |
L1479P |
possibly damaging |
Het |
| Rpl3l |
A |
G |
17: 24,952,916 (GRCm39) |
H292R |
probably benign |
Het |
| Rps6ka4 |
C |
A |
19: 6,815,171 (GRCm39) |
E202* |
probably null |
Het |
| Rsph14 |
T |
C |
10: 74,867,107 (GRCm39) |
D13G |
possibly damaging |
Het |
| Sri |
A |
G |
5: 8,114,576 (GRCm39) |
D177G |
probably damaging |
Het |
| Tenm2 |
A |
G |
11: 35,938,365 (GRCm39) |
V1437A |
probably damaging |
Het |
| Tiam2 |
A |
G |
17: 3,471,926 (GRCm39) |
R523G |
probably damaging |
Het |
| Tm9sf3 |
A |
T |
19: 41,205,555 (GRCm39) |
L561M |
possibly damaging |
Het |
| Tnrc6c |
G |
T |
11: 117,646,309 (GRCm39) |
D1417Y |
probably damaging |
Het |
| Ubr4 |
C |
T |
4: 139,186,437 (GRCm39) |
S648L |
probably damaging |
Het |
| Zfp827 |
T |
A |
8: 79,863,248 (GRCm39) |
L69Q |
probably damaging |
Het |
|
| Other mutations in Klhl11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00966:Klhl11
|
APN |
11 |
100,354,031 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02334:Klhl11
|
APN |
11 |
100,354,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02886:Klhl11
|
APN |
11 |
100,363,047 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0372:Klhl11
|
UTSW |
11 |
100,354,348 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0583:Klhl11
|
UTSW |
11 |
100,355,150 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R0608:Klhl11
|
UTSW |
11 |
100,363,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0609:Klhl11
|
UTSW |
11 |
100,354,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1417:Klhl11
|
UTSW |
11 |
100,363,115 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1629:Klhl11
|
UTSW |
11 |
100,355,012 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1643:Klhl11
|
UTSW |
11 |
100,353,841 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1985:Klhl11
|
UTSW |
11 |
100,354,070 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4746:Klhl11
|
UTSW |
11 |
100,355,176 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5053:Klhl11
|
UTSW |
11 |
100,363,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5426:Klhl11
|
UTSW |
11 |
100,354,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5731:Klhl11
|
UTSW |
11 |
100,354,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5755:Klhl11
|
UTSW |
11 |
100,355,177 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6874:Klhl11
|
UTSW |
11 |
100,363,031 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7295:Klhl11
|
UTSW |
11 |
100,363,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7426:Klhl11
|
UTSW |
11 |
100,355,178 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7554:Klhl11
|
UTSW |
11 |
100,354,774 (GRCm39) |
missense |
probably benign |
|
|
R7960:Klhl11
|
UTSW |
11 |
100,354,805 (GRCm39) |
missense |
probably benign |
|
|
R8125:Klhl11
|
UTSW |
11 |
100,354,811 (GRCm39) |
missense |
probably benign |
|
|
R8145:Klhl11
|
UTSW |
11 |
100,354,740 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8192:Klhl11
|
UTSW |
11 |
100,354,922 (GRCm39) |
missense |
probably benign |
0.29 |
|
R8202:Klhl11
|
UTSW |
11 |
100,354,150 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9649:Klhl11
|
UTSW |
11 |
100,363,506 (GRCm39) |
missense |
probably benign |
0.18 |
|
Z1177:Klhl11
|
UTSW |
11 |
100,354,792 (GRCm39) |
missense |
probably benign |
0.31 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCGCACAAGCTAGACTCTC -3'
(R):5'- ACTCACTGCTCCGAGTTGTC -3'
Sequencing Primer
(F):5'- CACAAGCTAGACTCTCAGGGG -3'
(R):5'- TTGTCCTGGCGGCAGAAC -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation