Incidental Mutation 'IGL02333:Klhl2'
ID |
288778 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Klhl2
|
Ensembl Gene |
ENSMUSG00000031605 |
Gene Name |
kelch-like 2, Mayven |
Synonyms |
Mav, 8530402H02Rik, ABP-KELCH, 6030411N21Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02333
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
65192709-65302669 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 65212784 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Tryptophan
at position 252
(R252W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147262
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034017]
[ENSMUST00000210166]
|
AlphaFold |
Q8JZP3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000034017
AA Change: R252W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000034017 Gene: ENSMUSG00000031605 AA Change: R252W
Domain | Start | End | E-Value | Type |
BTB
|
56 |
153 |
9.65e-32 |
SMART |
BACK
|
158 |
260 |
1.28e-40 |
SMART |
Kelch
|
308 |
353 |
1.09e-9 |
SMART |
Kelch
|
354 |
400 |
1.28e-15 |
SMART |
Kelch
|
401 |
447 |
1.58e-15 |
SMART |
Kelch
|
448 |
496 |
3.15e-15 |
SMART |
Kelch
|
497 |
543 |
3.25e-17 |
SMART |
Kelch
|
544 |
591 |
1.43e-13 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209458
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209919
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000210166
AA Change: R252W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ace |
G |
A |
11: 105,862,273 (GRCm39) |
V276I |
probably benign |
Het |
Acss2 |
T |
A |
2: 155,397,804 (GRCm39) |
W289R |
probably damaging |
Het |
Alpk2 |
A |
G |
18: 65,482,551 (GRCm39) |
S19P |
probably damaging |
Het |
Ano3 |
T |
C |
2: 110,527,544 (GRCm39) |
|
probably benign |
Het |
Atxn1 |
G |
A |
13: 45,720,680 (GRCm39) |
S405F |
probably damaging |
Het |
Atxn2 |
A |
G |
5: 121,919,450 (GRCm39) |
Y386C |
probably damaging |
Het |
Bach2 |
T |
A |
4: 32,575,334 (GRCm39) |
L643* |
probably null |
Het |
Ccl22 |
T |
A |
8: 95,476,507 (GRCm39) |
L91Q |
probably damaging |
Het |
Cdc40 |
A |
G |
10: 40,743,855 (GRCm39) |
Y81H |
probably benign |
Het |
Col5a3 |
C |
A |
9: 20,710,602 (GRCm39) |
R549M |
unknown |
Het |
Eif3e |
A |
T |
15: 43,129,533 (GRCm39) |
N198K |
probably benign |
Het |
Emp2 |
A |
G |
16: 10,102,375 (GRCm39) |
Y146H |
probably damaging |
Het |
Impg1 |
G |
A |
9: 80,322,808 (GRCm39) |
L66F |
possibly damaging |
Het |
Itsn1 |
A |
G |
16: 91,617,564 (GRCm39) |
|
probably benign |
Het |
Khdrbs3 |
T |
C |
15: 68,921,243 (GRCm39) |
Y187H |
probably damaging |
Het |
Klhdc7a |
T |
A |
4: 139,694,467 (GRCm39) |
H160L |
probably benign |
Het |
Krba1 |
C |
T |
6: 48,390,021 (GRCm39) |
T595I |
probably damaging |
Het |
Myo9b |
G |
T |
8: 71,811,637 (GRCm39) |
D1887Y |
possibly damaging |
Het |
Olfm4 |
C |
T |
14: 80,259,210 (GRCm39) |
T453I |
probably damaging |
Het |
Sin3a |
A |
G |
9: 57,014,843 (GRCm39) |
N688S |
possibly damaging |
Het |
Slc47a1 |
A |
G |
11: 61,260,950 (GRCm39) |
V150A |
probably damaging |
Het |
Sptbn4 |
A |
G |
7: 27,063,724 (GRCm39) |
L2234P |
probably damaging |
Het |
Trpm4 |
C |
T |
7: 44,971,539 (GRCm39) |
V166M |
possibly damaging |
Het |
Usp54 |
A |
T |
14: 20,639,463 (GRCm39) |
F156L |
probably damaging |
Het |
Vmn2r32 |
A |
T |
7: 7,467,143 (GRCm39) |
F795Y |
probably damaging |
Het |
|
Other mutations in Klhl2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00500:Klhl2
|
APN |
8 |
65,202,120 (GRCm39) |
missense |
probably benign |
|
IGL01111:Klhl2
|
APN |
8 |
65,202,081 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01620:Klhl2
|
APN |
8 |
65,232,772 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01878:Klhl2
|
APN |
8 |
65,212,858 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02664:Klhl2
|
APN |
8 |
65,205,801 (GRCm39) |
nonsense |
probably null |
|
IGL02828:Klhl2
|
APN |
8 |
65,232,791 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03162:Klhl2
|
APN |
8 |
65,207,426 (GRCm39) |
missense |
probably damaging |
0.99 |
R0315:Klhl2
|
UTSW |
8 |
65,196,053 (GRCm39) |
nonsense |
probably null |
|
R0482:Klhl2
|
UTSW |
8 |
65,211,164 (GRCm39) |
missense |
probably benign |
0.30 |
R1803:Klhl2
|
UTSW |
8 |
65,212,831 (GRCm39) |
missense |
probably damaging |
0.99 |
R1853:Klhl2
|
UTSW |
8 |
65,275,658 (GRCm39) |
missense |
probably benign |
0.03 |
R2155:Klhl2
|
UTSW |
8 |
65,202,804 (GRCm39) |
missense |
probably benign |
0.38 |
R2965:Klhl2
|
UTSW |
8 |
65,205,794 (GRCm39) |
missense |
probably benign |
0.01 |
R2979:Klhl2
|
UTSW |
8 |
65,275,730 (GRCm39) |
missense |
probably damaging |
1.00 |
R3980:Klhl2
|
UTSW |
8 |
65,196,115 (GRCm39) |
missense |
probably damaging |
1.00 |
R3980:Klhl2
|
UTSW |
8 |
65,196,109 (GRCm39) |
missense |
probably damaging |
1.00 |
R4597:Klhl2
|
UTSW |
8 |
65,207,421 (GRCm39) |
missense |
probably damaging |
1.00 |
R4627:Klhl2
|
UTSW |
8 |
65,211,225 (GRCm39) |
nonsense |
probably null |
|
R4825:Klhl2
|
UTSW |
8 |
65,205,847 (GRCm39) |
missense |
probably damaging |
1.00 |
R4854:Klhl2
|
UTSW |
8 |
65,287,111 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5448:Klhl2
|
UTSW |
8 |
65,275,642 (GRCm39) |
critical splice donor site |
probably null |
|
R5945:Klhl2
|
UTSW |
8 |
65,202,762 (GRCm39) |
missense |
probably benign |
|
R5961:Klhl2
|
UTSW |
8 |
65,202,818 (GRCm39) |
missense |
probably damaging |
1.00 |
R6218:Klhl2
|
UTSW |
8 |
65,205,801 (GRCm39) |
nonsense |
probably null |
|
R6290:Klhl2
|
UTSW |
8 |
65,264,351 (GRCm39) |
missense |
possibly damaging |
0.75 |
R6334:Klhl2
|
UTSW |
8 |
65,212,842 (GRCm39) |
missense |
probably benign |
0.00 |
R6595:Klhl2
|
UTSW |
8 |
65,196,077 (GRCm39) |
nonsense |
probably null |
|
R6847:Klhl2
|
UTSW |
8 |
65,212,816 (GRCm39) |
missense |
probably damaging |
1.00 |
R6863:Klhl2
|
UTSW |
8 |
65,275,743 (GRCm39) |
missense |
probably benign |
|
R7086:Klhl2
|
UTSW |
8 |
65,275,664 (GRCm39) |
missense |
probably damaging |
1.00 |
R7493:Klhl2
|
UTSW |
8 |
65,202,809 (GRCm39) |
missense |
probably damaging |
1.00 |
R8061:Klhl2
|
UTSW |
8 |
65,211,257 (GRCm39) |
missense |
probably damaging |
1.00 |
R8243:Klhl2
|
UTSW |
8 |
65,202,084 (GRCm39) |
missense |
probably benign |
|
R9391:Klhl2
|
UTSW |
8 |
65,275,684 (GRCm39) |
missense |
probably damaging |
1.00 |
R9420:Klhl2
|
UTSW |
8 |
65,205,870 (GRCm39) |
nonsense |
probably null |
|
R9469:Klhl2
|
UTSW |
8 |
65,196,069 (GRCm39) |
missense |
probably benign |
0.05 |
R9510:Klhl2
|
UTSW |
8 |
65,202,113 (GRCm39) |
missense |
probably benign |
|
R9602:Klhl2
|
UTSW |
8 |
65,205,696 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Klhl2
|
UTSW |
8 |
65,211,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |