Incidental Mutation 'IGL01111:Klhl2'
| ID |
51781 |
| 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 # |
IGL01111
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
65192709-65302669 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 65202081 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 532
(C532R)
|
| 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: C532R
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000034017
Gene: ENSMUSG00000031605
AA Change: C532R
| 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: ENSMUST00000209919
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210166
AA Change: C532R
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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ammecr1l |
T |
A |
18: 31,905,123 (GRCm39) |
Y121* |
probably null |
Het |
| Apc |
C |
T |
18: 34,448,189 (GRCm39) |
T1661I |
possibly damaging |
Het |
| Ccdc13 |
T |
C |
9: 121,639,150 (GRCm39) |
|
probably benign |
Het |
| Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
| Cpt1c |
T |
C |
7: 44,614,978 (GRCm39) |
H325R |
possibly damaging |
Het |
| Cyp2a22 |
T |
C |
7: 26,635,883 (GRCm39) |
K227E |
probably damaging |
Het |
| Ddx10 |
T |
C |
9: 53,071,248 (GRCm39) |
K682E |
possibly damaging |
Het |
| Dlg2 |
T |
C |
7: 91,098,971 (GRCm39) |
Y123H |
possibly damaging |
Het |
| Dnaaf9 |
G |
T |
2: 130,578,518 (GRCm39) |
D655E |
possibly damaging |
Het |
| Dnah11 |
A |
T |
12: 118,106,669 (GRCm39) |
|
probably benign |
Het |
| Dpysl2 |
T |
C |
14: 67,071,681 (GRCm39) |
E153G |
probably damaging |
Het |
| Edrf1 |
T |
A |
7: 133,260,282 (GRCm39) |
Y64* |
probably null |
Het |
| Ephb2 |
A |
T |
4: 136,384,721 (GRCm39) |
S897T |
probably benign |
Het |
| Flt1 |
A |
G |
5: 147,515,146 (GRCm39) |
I1092T |
probably damaging |
Het |
| Gabra4 |
T |
C |
5: 71,790,972 (GRCm39) |
Y290C |
probably damaging |
Het |
| Hectd2 |
A |
T |
19: 36,574,520 (GRCm39) |
H67L |
probably damaging |
Het |
| Itgb2 |
T |
C |
10: 77,377,834 (GRCm39) |
L11P |
probably damaging |
Het |
| Jmy |
T |
C |
13: 93,577,529 (GRCm39) |
R880G |
probably damaging |
Het |
| Kpna1 |
A |
G |
16: 35,833,259 (GRCm39) |
|
probably benign |
Het |
| L3mbtl2 |
T |
C |
15: 81,569,099 (GRCm39) |
V591A |
possibly damaging |
Het |
| Ldc1 |
T |
A |
4: 130,115,518 (GRCm39) |
D10V |
probably benign |
Het |
| Lepr |
A |
T |
4: 101,671,852 (GRCm39) |
N959Y |
possibly damaging |
Het |
| Man1a |
A |
T |
10: 53,853,109 (GRCm39) |
|
probably benign |
Het |
| Mov10 |
A |
T |
3: 104,708,721 (GRCm39) |
S431T |
possibly damaging |
Het |
| Mx2 |
A |
T |
16: 97,359,919 (GRCm39) |
Q563L |
probably benign |
Het |
| Nrap |
A |
T |
19: 56,333,990 (GRCm39) |
Y874N |
probably damaging |
Het |
| Nup160 |
T |
C |
2: 90,563,553 (GRCm39) |
I1373T |
probably benign |
Het |
| Nwd2 |
A |
T |
5: 63,964,643 (GRCm39) |
D1409V |
probably damaging |
Het |
| Obsl1 |
A |
T |
1: 75,473,789 (GRCm39) |
V744E |
possibly damaging |
Het |
| Or51l4 |
T |
A |
7: 103,404,580 (GRCm39) |
T71S |
probably benign |
Het |
| Pgap1 |
T |
C |
1: 54,570,102 (GRCm39) |
K315R |
probably benign |
Het |
| Rab8a |
T |
C |
8: 72,929,700 (GRCm39) |
V114A |
probably damaging |
Het |
| Sh2d6 |
T |
C |
6: 72,496,812 (GRCm39) |
T73A |
probably benign |
Het |
| Shroom1 |
A |
G |
11: 53,354,875 (GRCm39) |
E265G |
probably damaging |
Het |
| Slc8b1 |
G |
A |
5: 120,671,000 (GRCm39) |
V529M |
probably damaging |
Het |
| Srbd1 |
G |
T |
17: 86,405,961 (GRCm39) |
A613E |
probably benign |
Het |
| Stat1 |
G |
A |
1: 52,182,120 (GRCm39) |
|
probably null |
Het |
| Tbck |
A |
G |
3: 132,400,168 (GRCm39) |
H73R |
probably damaging |
Het |
| Thg1l |
A |
T |
11: 45,839,051 (GRCm39) |
D220E |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,608,667 (GRCm39) |
G16037D |
probably damaging |
Het |
| Unc13b |
A |
G |
4: 43,096,927 (GRCm39) |
E100G |
possibly damaging |
Het |
| Vmn2r81 |
T |
A |
10: 79,083,831 (GRCm39) |
D68E |
probably benign |
Het |
| Xpo6 |
T |
C |
7: 125,728,740 (GRCm39) |
T505A |
probably benign |
Het |
| Zfp976 |
T |
C |
7: 42,265,711 (GRCm39) |
K25E |
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 |
|
|
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 |
|
IGL02333:Klhl2
|
APN |
8 |
65,212,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2013-06-21 |
Incidental Mutation