Incidental Mutation 'IGL02293:Klhl32'
| ID |
290106 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Klhl32
|
| Ensembl Gene |
ENSMUSG00000040387 |
| Gene Name |
kelch-like 32 |
| Synonyms |
6430524H05Rik, D4Ertd389e, LOC384000 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.084)
|
| Stock # |
IGL02293
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
24612554-24851124 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24626935 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 555
(Y555H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103853
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084781]
[ENSMUST00000108214]
[ENSMUST00000108218]
[ENSMUST00000140652]
[ENSMUST00000150920]
|
| AlphaFold |
A2AJX0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000084781
AA Change: Y522H
PolyPhen 2
Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000081839
Gene: ENSMUSG00000040387
AA Change: Y522H
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
42 |
138 |
1.28e-22 |
SMART |
|
BACK
|
111 |
212 |
3.17e-22 |
SMART |
|
Kelch
|
257 |
313 |
4.07e-1 |
SMART |
|
Kelch
|
314 |
365 |
3.57e-1 |
SMART |
|
Kelch
|
366 |
413 |
3.77e-4 |
SMART |
|
Kelch
|
414 |
461 |
7.04e-4 |
SMART |
|
Kelch
|
462 |
514 |
6.47e-3 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000108214
AA Change: Y293H
|
| SMART Domains |
Protein: ENSMUSP00000103849
Gene: ENSMUSG00000040387
AA Change: Y293H
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
42 |
139 |
2.86e-25 |
SMART |
|
BACK
|
144 |
225 |
3.31e-2 |
SMART |
|
Blast:Kelch
|
233 |
285 |
1e-31 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108218
AA Change: Y555H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103853
Gene: ENSMUSG00000040387
AA Change: Y555H
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
42 |
139 |
2.86e-25 |
SMART |
|
BACK
|
144 |
245 |
3.17e-22 |
SMART |
|
Kelch
|
290 |
346 |
4.07e-1 |
SMART |
|
Kelch
|
347 |
398 |
3.57e-1 |
SMART |
|
Kelch
|
399 |
446 |
3.77e-4 |
SMART |
|
Kelch
|
447 |
494 |
7.04e-4 |
SMART |
|
Kelch
|
495 |
547 |
6.47e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140652
|
| SMART Domains |
Protein: ENSMUSP00000137312
Gene: ENSMUSG00000040387
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
42 |
139 |
2.14e-24 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150920
|
| SMART Domains |
Protein: ENSMUSP00000135917
Gene: ENSMUSG00000040387
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:BTB
|
1 |
49 |
4e-19 |
BLAST |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agtr1a |
A |
G |
13: 30,565,340 (GRCm39) |
K135R |
probably benign |
Het |
| Ahdc1 |
C |
T |
4: 132,792,929 (GRCm39) |
A1390V |
possibly damaging |
Het |
| Aldh1a2 |
A |
G |
9: 71,192,559 (GRCm39) |
|
probably null |
Het |
| Bltp2 |
T |
A |
11: 78,162,736 (GRCm39) |
L866H |
probably damaging |
Het |
| C6 |
T |
A |
15: 4,784,785 (GRCm39) |
I217K |
probably benign |
Het |
| Ccr1l1 |
G |
A |
9: 123,777,973 (GRCm39) |
T158I |
possibly damaging |
Het |
| Dnah6 |
A |
T |
6: 73,110,633 (GRCm39) |
|
probably benign |
Het |
| Ect2l |
A |
G |
10: 18,016,259 (GRCm39) |
|
probably null |
Het |
| Eif1ad11 |
A |
G |
12: 87,994,033 (GRCm39) |
N87S |
probably benign |
Het |
| Endov |
T |
C |
11: 119,395,999 (GRCm39) |
|
probably benign |
Het |
| Fpr-rs7 |
A |
G |
17: 20,334,232 (GRCm39) |
V86A |
probably benign |
Het |
| Gle1 |
A |
G |
2: 29,847,772 (GRCm39) |
I660V |
probably benign |
Het |
| Hk2 |
A |
T |
6: 82,720,956 (GRCm39) |
D159E |
probably benign |
Het |
| Hmcn1 |
A |
G |
1: 150,540,666 (GRCm39) |
V2881A |
probably damaging |
Het |
| Hspa14 |
T |
C |
2: 3,512,071 (GRCm39) |
K68E |
probably damaging |
Het |
| Ifi207 |
A |
T |
1: 173,551,314 (GRCm39) |
I974N |
probably damaging |
Het |
| Igkv4-71 |
A |
C |
6: 69,220,306 (GRCm39) |
S42A |
possibly damaging |
Het |
| Itgb4 |
G |
A |
11: 115,879,752 (GRCm39) |
V635I |
probably damaging |
Het |
| Lmbrd2 |
T |
C |
15: 9,172,276 (GRCm39) |
S357P |
probably benign |
Het |
| Mfsd1 |
T |
A |
3: 67,505,425 (GRCm39) |
V380D |
probably damaging |
Het |
| Ndc80 |
A |
G |
17: 71,821,273 (GRCm39) |
F225S |
probably damaging |
Het |
| Or2ak7 |
T |
C |
11: 58,574,996 (GRCm39) |
V99A |
probably benign |
Het |
| Or2n1 |
G |
T |
17: 38,486,577 (GRCm39) |
V201L |
probably benign |
Het |
| Plxnd1 |
A |
G |
6: 115,940,874 (GRCm39) |
V1355A |
probably damaging |
Het |
| Prkd1 |
A |
G |
12: 50,536,761 (GRCm39) |
S108P |
probably damaging |
Het |
| Ptges3 |
C |
T |
10: 127,911,204 (GRCm39) |
|
probably benign |
Het |
| Rabggta |
G |
T |
14: 55,959,153 (GRCm39) |
L5M |
probably benign |
Het |
| Rag1 |
C |
T |
2: 101,473,391 (GRCm39) |
D584N |
probably benign |
Het |
| Rasl12 |
A |
G |
9: 65,315,593 (GRCm39) |
D79G |
probably benign |
Het |
| Rhoj |
A |
G |
12: 75,422,186 (GRCm39) |
|
probably benign |
Het |
| Slc4a9 |
T |
C |
18: 36,666,268 (GRCm39) |
L483P |
probably benign |
Het |
|
| Other mutations in Klhl32 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00978:Klhl32
|
APN |
4 |
24,682,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02374:Klhl32
|
APN |
4 |
24,743,856 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02824:Klhl32
|
APN |
4 |
24,682,237 (GRCm39) |
nonsense |
probably null |
|
|
IGL03211:Klhl32
|
APN |
4 |
24,792,616 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03374:Klhl32
|
APN |
4 |
24,649,533 (GRCm39) |
intron |
probably benign |
|
|
R0071:Klhl32
|
UTSW |
4 |
24,743,907 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0478:Klhl32
|
UTSW |
4 |
24,792,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0856:Klhl32
|
UTSW |
4 |
24,682,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0908:Klhl32
|
UTSW |
4 |
24,682,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1882:Klhl32
|
UTSW |
4 |
24,743,916 (GRCm39) |
nonsense |
probably null |
|
|
R1927:Klhl32
|
UTSW |
4 |
24,617,474 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2137:Klhl32
|
UTSW |
4 |
24,629,275 (GRCm39) |
nonsense |
probably null |
|
|
R3176:Klhl32
|
UTSW |
4 |
24,682,063 (GRCm39) |
missense |
probably benign |
0.39 |
|
R3276:Klhl32
|
UTSW |
4 |
24,682,063 (GRCm39) |
missense |
probably benign |
0.39 |
|
R4059:Klhl32
|
UTSW |
4 |
24,792,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4246:Klhl32
|
UTSW |
4 |
24,800,822 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4597:Klhl32
|
UTSW |
4 |
24,629,339 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4801:Klhl32
|
UTSW |
4 |
24,649,698 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4802:Klhl32
|
UTSW |
4 |
24,649,698 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4929:Klhl32
|
UTSW |
4 |
24,709,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5654:Klhl32
|
UTSW |
4 |
24,800,805 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6039:Klhl32
|
UTSW |
4 |
24,792,615 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6039:Klhl32
|
UTSW |
4 |
24,792,615 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6362:Klhl32
|
UTSW |
4 |
24,629,195 (GRCm39) |
missense |
probably null |
1.00 |
|
R6490:Klhl32
|
UTSW |
4 |
24,711,578 (GRCm39) |
intron |
probably benign |
|
|
R6948:Klhl32
|
UTSW |
4 |
24,629,250 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6981:Klhl32
|
UTSW |
4 |
24,709,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8268:Klhl32
|
UTSW |
4 |
24,800,843 (GRCm39) |
start gained |
probably benign |
|
|
R8379:Klhl32
|
UTSW |
4 |
24,629,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8419:Klhl32
|
UTSW |
4 |
24,682,203 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8553:Klhl32
|
UTSW |
4 |
24,629,343 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9257:Klhl32
|
UTSW |
4 |
24,649,608 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9460:Klhl32
|
UTSW |
4 |
24,649,866 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9472:Klhl32
|
UTSW |
4 |
24,629,273 (GRCm39) |
missense |
probably benign |
0.13 |
|
| Posted On |
2015-04-16 |
Incidental Mutation