Incidental Mutation 'IGL01620:Klhl2'
| ID |
92527 |
| 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 # |
IGL01620
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
65192709-65302669 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 65232772 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 168
(H168Q)
|
| 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: H168Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034017
Gene: ENSMUSG00000031605
AA Change: H168Q
| 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 |
probably damaging
Transcript: ENSMUST00000210166
AA Change: H168Q
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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aaas |
A |
T |
15: 102,248,385 (GRCm39) |
V277D |
probably damaging |
Het |
| Akap9 |
T |
A |
5: 4,010,218 (GRCm39) |
V325D |
probably benign |
Het |
| Ambra1 |
A |
G |
2: 91,741,757 (GRCm39) |
|
probably null |
Het |
| Ano9 |
A |
G |
7: 140,690,352 (GRCm39) |
L94P |
probably damaging |
Het |
| Atad3a |
G |
T |
4: 155,830,535 (GRCm39) |
T521K |
probably damaging |
Het |
| Bckdk |
A |
G |
7: 127,504,948 (GRCm39) |
K126E |
possibly damaging |
Het |
| Bdp1 |
A |
T |
13: 100,220,713 (GRCm39) |
|
probably benign |
Het |
| Btbd17 |
T |
C |
11: 114,686,599 (GRCm39) |
T26A |
probably benign |
Het |
| Cadps2 |
G |
A |
6: 23,587,461 (GRCm39) |
S314L |
probably benign |
Het |
| Ccl8 |
A |
T |
11: 82,007,435 (GRCm39) |
Q90L |
probably damaging |
Het |
| Chit1 |
T |
C |
1: 134,078,257 (GRCm39) |
V355A |
probably damaging |
Het |
| Col17a1 |
A |
G |
19: 47,656,978 (GRCm39) |
I555T |
possibly damaging |
Het |
| Dmwd |
T |
A |
7: 18,815,159 (GRCm39) |
|
probably null |
Het |
| Dtna |
T |
C |
18: 23,758,144 (GRCm39) |
I483T |
probably damaging |
Het |
| Eloc |
T |
A |
1: 16,713,502 (GRCm39) |
|
probably benign |
Het |
| Emc7 |
T |
A |
2: 112,295,119 (GRCm39) |
L177H |
probably damaging |
Het |
| Emsy |
T |
A |
7: 98,275,831 (GRCm39) |
K352I |
probably damaging |
Het |
| Ermn |
T |
C |
2: 57,942,502 (GRCm39) |
E76G |
probably benign |
Het |
| Flot1 |
A |
T |
17: 36,140,763 (GRCm39) |
E203V |
possibly damaging |
Het |
| Hsd11b2 |
A |
G |
8: 106,249,529 (GRCm39) |
K266R |
probably benign |
Het |
| Iqck |
A |
T |
7: 118,476,901 (GRCm39) |
K154M |
probably damaging |
Het |
| Itgb5 |
T |
A |
16: 33,740,168 (GRCm39) |
V426E |
probably damaging |
Het |
| Kash5 |
T |
C |
7: 44,839,384 (GRCm39) |
D359G |
probably damaging |
Het |
| Kif13a |
T |
C |
13: 47,018,296 (GRCm39) |
K53R |
probably benign |
Het |
| Lpcat2b |
T |
C |
5: 107,581,759 (GRCm39) |
Y363H |
probably damaging |
Het |
| Lrp6 |
A |
T |
6: 134,488,225 (GRCm39) |
N290K |
probably damaging |
Het |
| Map2k3 |
T |
C |
11: 60,840,873 (GRCm39) |
F301L |
possibly damaging |
Het |
| Mns1 |
A |
G |
9: 72,364,195 (GRCm39) |
|
probably benign |
Het |
| Nos1 |
A |
G |
5: 118,043,374 (GRCm39) |
|
probably null |
Het |
| Or1j17 |
T |
A |
2: 36,578,550 (GRCm39) |
C179S |
probably damaging |
Het |
| Or52h7 |
T |
A |
7: 104,214,220 (GRCm39) |
V264D |
probably damaging |
Het |
| Pask |
A |
T |
1: 93,237,844 (GRCm39) |
H1374Q |
possibly damaging |
Het |
| Pik3r1 |
G |
A |
13: 101,822,728 (GRCm39) |
A658V |
probably damaging |
Het |
| Ppp2r2a |
A |
T |
14: 67,307,726 (GRCm39) |
F14I |
probably damaging |
Het |
| Ptprc |
C |
T |
1: 137,996,148 (GRCm39) |
E904K |
possibly damaging |
Het |
| Rab11fip4 |
G |
T |
11: 79,582,705 (GRCm39) |
D591Y |
possibly damaging |
Het |
| Rab3gap2 |
A |
G |
1: 184,936,523 (GRCm39) |
T29A |
probably benign |
Het |
| Rgs19 |
A |
G |
2: 181,331,381 (GRCm39) |
V84A |
possibly damaging |
Het |
| Shisa6 |
T |
G |
11: 66,108,705 (GRCm39) |
M391L |
probably benign |
Het |
| Sipa1l1 |
G |
A |
12: 82,469,263 (GRCm39) |
G1254D |
probably damaging |
Het |
| Slfn8 |
A |
T |
11: 82,895,059 (GRCm39) |
Y358* |
probably null |
Het |
| Taf3 |
G |
T |
2: 9,957,472 (GRCm39) |
R232S |
probably benign |
Het |
| Terb2 |
T |
A |
2: 122,035,338 (GRCm39) |
H186Q |
possibly damaging |
Het |
| Trav13n-4 |
T |
C |
14: 53,601,473 (GRCm39) |
S81P |
probably damaging |
Het |
| Trim30d |
G |
T |
7: 104,121,333 (GRCm39) |
P321T |
possibly damaging |
Het |
| Tyrp1 |
G |
T |
4: 80,763,039 (GRCm39) |
G309* |
probably null |
Het |
| Vps13d |
C |
A |
4: 144,821,437 (GRCm39) |
G2979V |
possibly 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 |
|
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 |
2013-12-09 |
Incidental Mutation