Incidental Mutation 'IGL02886:Klhl11'
| ID |
363026 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Klhl11
|
| Ensembl Gene |
ENSMUSG00000048732 |
| Gene Name |
kelch-like 11 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.322)
|
| Stock # |
IGL02886
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
100353440-100363567 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 100363047 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 170
(S170G)
|
| 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: S170G
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000054963
Gene: ENSMUSG00000048732
AA Change: S170G
| 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 |
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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
A |
3: 121,921,863 (GRCm39) |
C1140S |
probably damaging |
Het |
| Abhd12b |
T |
C |
12: 70,229,740 (GRCm39) |
I238T |
possibly damaging |
Het |
| Adgrb3 |
T |
C |
1: 25,543,991 (GRCm39) |
|
probably null |
Het |
| Baz2b |
A |
T |
2: 59,788,087 (GRCm39) |
|
probably null |
Het |
| Brwd3 |
T |
C |
X: 107,794,454 (GRCm39) |
Y1410C |
probably damaging |
Het |
| Casp7 |
T |
A |
19: 56,421,775 (GRCm39) |
I71N |
probably damaging |
Het |
| Cspg4 |
A |
T |
9: 56,804,672 (GRCm39) |
I1828F |
probably damaging |
Het |
| Cul2 |
T |
C |
18: 3,426,920 (GRCm39) |
|
probably benign |
Het |
| Efcab3 |
A |
G |
11: 104,986,700 (GRCm39) |
D5409G |
possibly damaging |
Het |
| Fam187a |
A |
T |
11: 102,777,380 (GRCm39) |
T395S |
probably benign |
Het |
| Fcgr2b |
A |
G |
1: 170,793,297 (GRCm39) |
V244A |
possibly damaging |
Het |
| Fubp1 |
A |
G |
3: 151,926,392 (GRCm39) |
E333G |
possibly damaging |
Het |
| Ganab |
G |
T |
19: 8,888,391 (GRCm39) |
|
probably benign |
Het |
| Hpdl |
A |
G |
4: 116,677,952 (GRCm39) |
S170P |
probably benign |
Het |
| Hsd17b7 |
C |
T |
1: 169,780,649 (GRCm39) |
E320K |
probably damaging |
Het |
| Lrrc56 |
A |
G |
7: 140,777,090 (GRCm39) |
|
probably benign |
Het |
| Lrrd1 |
T |
C |
5: 3,901,534 (GRCm39) |
V613A |
probably benign |
Het |
| Myo1e |
T |
C |
9: 70,276,055 (GRCm39) |
F757L |
probably benign |
Het |
| Myo5a |
T |
A |
9: 75,059,169 (GRCm39) |
|
probably benign |
Het |
| Myocd |
T |
A |
11: 65,069,569 (GRCm39) |
D837V |
probably damaging |
Het |
| Naip6 |
T |
C |
13: 100,436,984 (GRCm39) |
Q513R |
possibly damaging |
Het |
| Nol4l |
A |
G |
2: 153,371,457 (GRCm39) |
F76L |
probably benign |
Het |
| Or10ak7 |
T |
C |
4: 118,792,027 (GRCm39) |
E6G |
probably benign |
Het |
| Or2b2b |
T |
A |
13: 21,859,122 (GRCm39) |
|
probably benign |
Het |
| Or5b98 |
T |
A |
19: 12,931,882 (GRCm39) |
S310T |
probably benign |
Het |
| Pck1 |
G |
A |
2: 172,996,649 (GRCm39) |
E188K |
probably benign |
Het |
| Pdcd11 |
T |
C |
19: 47,102,064 (GRCm39) |
V1083A |
possibly damaging |
Het |
| Primpol |
G |
A |
8: 47,046,619 (GRCm39) |
Q226* |
probably null |
Het |
| Rbm15 |
A |
C |
3: 107,233,611 (GRCm39) |
V959G |
probably benign |
Het |
| Rorb |
A |
G |
19: 18,954,943 (GRCm39) |
|
probably null |
Het |
| Spata9 |
T |
C |
13: 76,125,853 (GRCm39) |
L112P |
probably damaging |
Het |
| Stk24 |
A |
T |
14: 121,529,527 (GRCm39) |
L375Q |
probably null |
Het |
| Svip |
A |
G |
7: 51,655,509 (GRCm39) |
S11P |
possibly damaging |
Het |
| Taf13 |
T |
C |
3: 108,488,500 (GRCm39) |
|
probably benign |
Het |
| Tex30 |
T |
C |
1: 44,127,683 (GRCm39) |
Y7C |
probably damaging |
Het |
| Tmem68 |
T |
C |
4: 3,569,361 (GRCm39) |
|
probably benign |
Het |
| Tnc |
T |
C |
4: 63,918,344 (GRCm39) |
E1189G |
probably damaging |
Het |
| Top2b |
T |
C |
14: 16,365,688 (GRCm38) |
S4P |
possibly damaging |
Het |
| Trav3-3 |
C |
A |
14: 53,903,822 (GRCm39) |
L47I |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,733,557 (GRCm39) |
|
probably benign |
Het |
| Uroc1 |
A |
G |
6: 90,323,811 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
R3844:Klhl11
|
UTSW |
11 |
100,363,133 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
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 |
|
| Posted On |
2015-12-18 |
Incidental Mutation