Incidental Mutation 'IGL00592:Klhl9'
| ID |
6635 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Klhl9
|
| Ensembl Gene |
ENSMUSG00000070923 |
| Gene Name |
kelch-like 9 |
| Synonyms |
C530050O22Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00592
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
88636529-88640702 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 88639378 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 288
(S288P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092602
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094993]
[ENSMUST00000181601]
|
| AlphaFold |
Q6ZPT1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094993
AA Change: S288P
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000092602
Gene: ENSMUSG00000070923
AA Change: S288P
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
50 |
149 |
7.21e-22 |
SMART |
|
BACK
|
154 |
255 |
3.93e-27 |
SMART |
|
low complexity region
|
276 |
287 |
N/A |
INTRINSIC |
|
Kelch
|
299 |
347 |
1.13e-2 |
SMART |
|
Kelch
|
348 |
399 |
1.92e-5 |
SMART |
|
Kelch
|
400 |
446 |
1.59e-11 |
SMART |
|
Kelch
|
447 |
493 |
2.61e-7 |
SMART |
|
Kelch
|
494 |
545 |
1.58e-6 |
SMART |
|
Kelch
|
546 |
594 |
1.43e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000181601
|
| SMART Domains |
Protein: ENSMUSP00000137773
Gene: ENSMUSG00000097078
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
121 |
133 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the kelch repeat-containing family, and contains an N-terminal BTB/POZ domain, a BACK domain and six C-terminal kelch repeats. The encoded protein is a component of a complex with cullin 3-based E3 ligase, which plays a role in mitosis. This protein complex is a cell cycle regulator, and functions in the organization and integrity of the spindle midzone in anaphase and the completion of cytokinesis. The complex is required for the removal of the chromosomal passenger protein aurora B from mitotic chromosomes. [provided by RefSeq, Jul 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adh4 |
A |
G |
3: 138,126,397 (GRCm39) |
I91V |
probably damaging |
Het |
| Ak6 |
T |
C |
13: 100,800,599 (GRCm39) |
V74A |
probably benign |
Het |
| Antxr1 |
C |
A |
6: 87,265,784 (GRCm39) |
V110F |
probably damaging |
Het |
| Anxa1 |
T |
C |
19: 20,355,033 (GRCm39) |
D247G |
probably benign |
Het |
| Dgkg |
T |
C |
16: 22,298,112 (GRCm39) |
|
probably benign |
Het |
| Eva1b |
T |
C |
4: 126,043,443 (GRCm39) |
M161T |
probably benign |
Het |
| Fbxw22 |
C |
A |
9: 109,213,108 (GRCm39) |
V280F |
possibly damaging |
Het |
| Masp2 |
C |
T |
4: 148,687,186 (GRCm39) |
P23S |
probably benign |
Het |
| Ncam1 |
T |
A |
9: 49,434,865 (GRCm39) |
D600V |
probably damaging |
Het |
| Pcnx4 |
A |
G |
12: 72,626,139 (GRCm39) |
N1115S |
probably damaging |
Het |
| Pdia2 |
A |
G |
17: 26,417,090 (GRCm39) |
V109A |
probably damaging |
Het |
| Pla1a |
G |
T |
16: 38,235,212 (GRCm39) |
H161N |
probably damaging |
Het |
| Prokr2 |
A |
T |
2: 132,223,424 (GRCm39) |
D39E |
probably benign |
Het |
| Sall4 |
T |
C |
2: 168,597,883 (GRCm39) |
D319G |
probably damaging |
Het |
| Sgms2 |
A |
G |
3: 131,135,482 (GRCm39) |
S131P |
possibly damaging |
Het |
| Slc22a2 |
A |
T |
17: 12,827,305 (GRCm39) |
Q319L |
possibly damaging |
Het |
| Slc27a5 |
A |
G |
7: 12,722,566 (GRCm39) |
I636T |
probably benign |
Het |
| Tas2r131 |
T |
G |
6: 132,934,159 (GRCm39) |
T217P |
probably damaging |
Het |
| Trh |
T |
C |
6: 92,219,723 (GRCm39) |
M198V |
possibly damaging |
Het |
| Ube2b |
A |
C |
11: 51,877,546 (GRCm39) |
V141G |
probably damaging |
Het |
| Ube2l6 |
T |
A |
2: 84,639,373 (GRCm39) |
V112E |
probably damaging |
Het |
| Vmn1r79 |
T |
C |
7: 11,910,934 (GRCm39) |
I272T |
probably benign |
Het |
| Xylb |
C |
T |
9: 119,219,549 (GRCm39) |
Q513* |
probably null |
Het |
| Zbtb4 |
T |
A |
11: 69,667,557 (GRCm39) |
C287* |
probably null |
Het |
|
| Other mutations in Klhl9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00588:Klhl9
|
APN |
4 |
88,639,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01986:Klhl9
|
APN |
4 |
88,640,016 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02364:Klhl9
|
APN |
4 |
88,639,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02994:Klhl9
|
APN |
4 |
88,639,434 (GRCm39) |
nonsense |
probably null |
|
|
minnow
|
UTSW |
4 |
88,639,843 (GRCm39) |
nonsense |
probably null |
|
|
R0319:Klhl9
|
UTSW |
4 |
88,638,691 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0360:Klhl9
|
UTSW |
4 |
88,638,527 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0364:Klhl9
|
UTSW |
4 |
88,638,527 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0693:Klhl9
|
UTSW |
4 |
88,638,527 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0961:Klhl9
|
UTSW |
4 |
88,639,974 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1521:Klhl9
|
UTSW |
4 |
88,640,230 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2891:Klhl9
|
UTSW |
4 |
88,639,207 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3762:Klhl9
|
UTSW |
4 |
88,639,830 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4584:Klhl9
|
UTSW |
4 |
88,640,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4678:Klhl9
|
UTSW |
4 |
88,639,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4888:Klhl9
|
UTSW |
4 |
88,640,182 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5030:Klhl9
|
UTSW |
4 |
88,638,771 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R5082:Klhl9
|
UTSW |
4 |
88,639,622 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6466:Klhl9
|
UTSW |
4 |
88,639,399 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7032:Klhl9
|
UTSW |
4 |
88,639,843 (GRCm39) |
nonsense |
probably null |
|
|
R7532:Klhl9
|
UTSW |
4 |
88,639,090 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7602:Klhl9
|
UTSW |
4 |
88,640,646 (GRCm39) |
start gained |
probably benign |
|
|
R7618:Klhl9
|
UTSW |
4 |
88,638,772 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7879:Klhl9
|
UTSW |
4 |
88,638,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7909:Klhl9
|
UTSW |
4 |
88,639,238 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8372:Klhl9
|
UTSW |
4 |
88,639,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8990:Klhl9
|
UTSW |
4 |
88,640,205 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9024:Klhl9
|
UTSW |
4 |
88,639,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9619:Klhl9
|
UTSW |
4 |
88,639,062 (GRCm39) |
missense |
probably benign |
0.04 |
|
X0063:Klhl9
|
UTSW |
4 |
88,640,188 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2012-04-20 |
Incidental Mutation