Incidental Mutation 'IGL03211:Klhl32'
| ID |
413320 |
| 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 # |
IGL03211
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
24612554-24851124 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 24792616 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103853
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084781]
[ENSMUST00000108214]
[ENSMUST00000108218]
[ENSMUST00000140652]
|
| AlphaFold |
A2AJX0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000084781
|
| SMART Domains |
Protein: ENSMUSP00000081839
Gene: ENSMUSG00000040387
| 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 null
Transcript: ENSMUST00000108214
|
| SMART Domains |
Protein: ENSMUSP00000103849
Gene: ENSMUSG00000040387
| 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 null
Transcript: ENSMUST00000108218
|
| SMART Domains |
Protein: ENSMUSP00000103853
Gene: ENSMUSG00000040387
| 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 |
noncoding transcript
Transcript: ENSMUST00000142373
|
| 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 |
|---|
| Bmp7 |
C |
T |
2: 172,714,676 (GRCm39) |
V378I |
possibly damaging |
Het |
| Cd209b |
G |
T |
8: 3,968,830 (GRCm39) |
|
probably benign |
Het |
| Cilp |
A |
T |
9: 65,187,457 (GRCm39) |
Q1184L |
probably benign |
Het |
| Cysltr2 |
A |
T |
14: 73,267,155 (GRCm39) |
M185K |
possibly damaging |
Het |
| Dcaf6 |
A |
G |
1: 165,250,502 (GRCm39) |
F121L |
possibly damaging |
Het |
| Dnajc8 |
T |
A |
4: 132,272,048 (GRCm39) |
Y95N |
possibly damaging |
Het |
| Ebf3 |
A |
G |
7: 136,833,033 (GRCm39) |
V214A |
probably benign |
Het |
| Elavl3 |
A |
G |
9: 21,929,974 (GRCm39) |
V310A |
probably damaging |
Het |
| Emc2 |
C |
T |
15: 43,371,068 (GRCm39) |
R131* |
probably null |
Het |
| Hcn4 |
G |
A |
9: 58,765,434 (GRCm39) |
V639M |
unknown |
Het |
| Kif21a |
T |
G |
15: 90,882,166 (GRCm39) |
D46A |
possibly damaging |
Het |
| Kitl |
T |
C |
10: 99,916,721 (GRCm39) |
S175P |
probably benign |
Het |
| Plcg1 |
C |
T |
2: 160,601,611 (GRCm39) |
T972I |
possibly damaging |
Het |
| Prdm13 |
T |
C |
4: 21,678,492 (GRCm39) |
H666R |
probably damaging |
Het |
| Rap1gap |
G |
A |
4: 137,443,157 (GRCm39) |
|
probably null |
Het |
| Rdh7 |
T |
C |
10: 127,723,492 (GRCm39) |
N121S |
probably benign |
Het |
| Ric8b |
T |
A |
10: 84,837,657 (GRCm39) |
I488N |
probably damaging |
Het |
| Slc38a2 |
A |
T |
15: 96,596,153 (GRCm39) |
|
probably null |
Het |
| Slc9a9 |
G |
A |
9: 95,020,043 (GRCm39) |
|
probably benign |
Het |
| Tk2 |
T |
A |
8: 104,970,073 (GRCm39) |
I64F |
probably damaging |
Het |
| Virma |
G |
A |
4: 11,548,770 (GRCm39) |
W1776* |
probably null |
Het |
| Vrk1 |
C |
T |
12: 106,002,847 (GRCm39) |
A15V |
probably benign |
Het |
| Wdfy3 |
T |
C |
5: 101,992,778 (GRCm39) |
|
probably benign |
Het |
| Wfdc10 |
T |
C |
2: 164,499,172 (GRCm39) |
V94A |
probably benign |
Het |
| Zfp780b |
A |
T |
7: 27,662,600 (GRCm39) |
C652S |
possibly damaging |
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 |
|
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 |
|
|
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 |
2016-08-02 |
Incidental Mutation