Incidental Mutation 'IGL00978:Klhl32'
| ID |
27345 |
| 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 # |
IGL00978
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
24612554-24851124 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 24682245 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 146
(D146V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103849
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084781]
[ENSMUST00000108214]
[ENSMUST00000108218]
[ENSMUST00000140652]
[ENSMUST00000150920]
|
| AlphaFold |
A2AJX0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000084781
AA Change: D113V
PolyPhen 2
Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000081839
Gene: ENSMUSG00000040387
AA Change: D113V
| 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 |
noncoding transcript
Transcript: ENSMUST00000108213
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108214
AA Change: D146V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103849
Gene: ENSMUSG00000040387
AA Change: D146V
| 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 |
possibly damaging
Transcript: ENSMUST00000108218
AA Change: D146V
PolyPhen 2
Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000103853
Gene: ENSMUSG00000040387
AA Change: D146V
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610009L18Rik |
T |
C |
11: 120,241,773 (GRCm39) |
|
probably benign |
Het |
| Alpk2 |
A |
T |
18: 65,424,605 (GRCm39) |
|
probably benign |
Het |
| Angptl8 |
T |
C |
9: 21,748,349 (GRCm39) |
|
probably benign |
Het |
| AU040320 |
T |
A |
4: 126,722,632 (GRCm39) |
D383E |
probably benign |
Het |
| Cep97 |
C |
T |
16: 55,745,323 (GRCm39) |
|
probably benign |
Het |
| Clcn4 |
A |
T |
7: 7,290,672 (GRCm39) |
L649H |
probably damaging |
Het |
| Col5a2 |
T |
C |
1: 45,415,899 (GRCm39) |
N1416S |
probably benign |
Het |
| Erbb2 |
C |
T |
11: 98,326,456 (GRCm39) |
P1027S |
probably damaging |
Het |
| Eya1 |
A |
G |
1: 14,340,925 (GRCm39) |
|
probably benign |
Het |
| Gfm2 |
T |
C |
13: 97,299,485 (GRCm39) |
I402T |
probably benign |
Het |
| Gmeb2 |
A |
T |
2: 180,900,836 (GRCm39) |
V187E |
probably benign |
Het |
| Hectd1 |
T |
C |
12: 51,838,173 (GRCm39) |
H662R |
possibly damaging |
Het |
| Ifne |
T |
C |
4: 88,798,268 (GRCm39) |
Q50R |
probably benign |
Het |
| Kidins220 |
A |
G |
12: 25,107,473 (GRCm39) |
D1642G |
probably damaging |
Het |
| Krt36 |
T |
C |
11: 99,993,774 (GRCm39) |
I355V |
probably damaging |
Het |
| Lrrcc1 |
T |
A |
3: 14,601,188 (GRCm39) |
S73R |
possibly damaging |
Het |
| Ltbp3 |
A |
T |
19: 5,804,047 (GRCm39) |
H853L |
probably benign |
Het |
| Map3k5 |
G |
A |
10: 20,017,313 (GRCm39) |
R1369Q |
probably damaging |
Het |
| Mcm8 |
A |
G |
2: 132,663,326 (GRCm39) |
N148S |
probably benign |
Het |
| Mylk3 |
A |
T |
8: 86,082,155 (GRCm39) |
L211* |
probably null |
Het |
| Nras |
T |
C |
3: 102,966,232 (GRCm39) |
|
probably benign |
Het |
| Or2n1c |
A |
T |
17: 38,519,873 (GRCm39) |
I246F |
probably damaging |
Het |
| Or52e18 |
A |
T |
7: 104,609,923 (GRCm39) |
N5K |
probably damaging |
Het |
| Os9 |
A |
T |
10: 126,956,378 (GRCm39) |
Y66N |
probably damaging |
Het |
| Pitpnm1 |
A |
G |
19: 4,151,228 (GRCm39) |
D15G |
possibly damaging |
Het |
| Reg3a |
A |
T |
6: 78,359,284 (GRCm39) |
R95* |
probably null |
Het |
| Rnf17 |
C |
T |
14: 56,749,728 (GRCm39) |
P1425S |
probably damaging |
Het |
| Smad2 |
T |
C |
18: 76,432,846 (GRCm39) |
|
probably benign |
Het |
| Ttll5 |
C |
T |
12: 85,980,256 (GRCm39) |
Q76* |
probably null |
Het |
| Uri1 |
A |
T |
7: 37,696,156 (GRCm39) |
|
probably benign |
Het |
| Vmn2r102 |
G |
T |
17: 19,899,185 (GRCm39) |
|
probably null |
Het |
| Vmn2r70 |
T |
G |
7: 85,213,007 (GRCm39) |
M467L |
probably benign |
Het |
| Zfp318 |
T |
A |
17: 46,724,652 (GRCm39) |
D2218E |
possibly damaging |
Het |
| Zfp692 |
T |
C |
11: 58,204,855 (GRCm39) |
I405T |
possibly damaging |
Het |
| Zfp692 |
A |
G |
11: 58,200,824 (GRCm39) |
H235R |
possibly damaging |
Het |
|
| Other mutations in Klhl32 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02293:Klhl32
|
APN |
4 |
24,626,935 (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 |
2013-04-17 |
Incidental Mutation