Incidental Mutation 'IGL02830:Klhl33'
| ID |
361396 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Klhl33
|
| Ensembl Gene |
ENSMUSG00000090799 |
| Gene Name |
kelch-like 33 |
| Synonyms |
EG546611 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
IGL02830
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
51126038-51134940 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 51129214 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 672
(V672M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154785
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164415]
[ENSMUST00000170855]
[ENSMUST00000227271]
|
| AlphaFold |
A0A2I3BRZ3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000164415
AA Change: V412M
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000129810
Gene: ENSMUSG00000090799
AA Change: V412M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BTB
|
1 |
70 |
5.7e-6 |
PFAM |
|
BACK
|
75 |
176 |
3.59e-21 |
SMART |
|
Kelch
|
273 |
322 |
5.26e-3 |
SMART |
|
Kelch
|
323 |
369 |
7.83e-11 |
SMART |
|
Kelch
|
370 |
418 |
1.46e-1 |
SMART |
|
Kelch
|
419 |
465 |
2.84e-8 |
SMART |
|
Kelch
|
466 |
514 |
6.08e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170855
|
| SMART Domains |
Protein: ENSMUSP00000131456
Gene: ENSMUSG00000090799
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1buoa_
|
83 |
129 |
2e-3 |
SMART |
|
Blast:BTB
|
109 |
170 |
2e-18 |
BLAST |
|
SCOP:d1jkjb2
|
142 |
198 |
2e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226765
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227271
AA Change: V672M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700122O11Rik |
T |
A |
17: 48,348,235 (GRCm39) |
E67D |
possibly damaging |
Het |
| Acad11 |
T |
A |
9: 103,953,118 (GRCm39) |
F116I |
probably damaging |
Het |
| Acox2 |
G |
A |
14: 8,255,298 (GRCm38) |
T160I |
probably damaging |
Het |
| Anxa7 |
A |
T |
14: 20,506,608 (GRCm39) |
M444K |
possibly damaging |
Het |
| Atg2a |
A |
G |
19: 6,297,711 (GRCm39) |
D423G |
probably benign |
Het |
| Cela3a |
T |
C |
4: 137,128,946 (GRCm39) |
N282S |
probably benign |
Het |
| Cyp2c50 |
G |
A |
19: 40,086,500 (GRCm39) |
V296I |
probably benign |
Het |
| Fcgbpl1 |
C |
A |
7: 27,862,348 (GRCm39) |
H2471Q |
probably damaging |
Het |
| Fgd3 |
A |
G |
13: 49,418,107 (GRCm39) |
|
probably benign |
Het |
| Gfus |
C |
T |
15: 75,797,437 (GRCm39) |
V275I |
probably benign |
Het |
| Gimap8 |
G |
A |
6: 48,633,239 (GRCm39) |
A353T |
probably benign |
Het |
| Grin3a |
T |
A |
4: 49,702,787 (GRCm39) |
M900L |
possibly damaging |
Het |
| H1f0 |
T |
G |
15: 78,913,511 (GRCm39) |
|
probably benign |
Het |
| Heatr1 |
T |
C |
13: 12,441,093 (GRCm39) |
V1456A |
possibly damaging |
Het |
| Hsd17b7 |
C |
T |
1: 169,780,649 (GRCm39) |
E320K |
probably damaging |
Het |
| Kbtbd3 |
T |
A |
9: 4,330,096 (GRCm39) |
S157T |
possibly damaging |
Het |
| Kif19a |
C |
T |
11: 114,672,034 (GRCm39) |
T207M |
probably damaging |
Het |
| Klc1 |
T |
C |
12: 111,743,341 (GRCm39) |
Y223H |
probably damaging |
Het |
| Lrrc49 |
G |
A |
9: 60,592,393 (GRCm39) |
L34F |
probably damaging |
Het |
| Nalcn |
C |
T |
14: 123,530,881 (GRCm39) |
V1386I |
probably damaging |
Het |
| Or14c39 |
T |
G |
7: 86,344,382 (GRCm39) |
C239W |
probably damaging |
Het |
| Or4b13 |
A |
T |
2: 90,083,125 (GRCm39) |
I69N |
probably damaging |
Het |
| Or51b6 |
C |
T |
7: 103,555,651 (GRCm39) |
P2S |
probably benign |
Het |
| Or5ac19 |
A |
G |
16: 59,089,416 (GRCm39) |
S205P |
possibly damaging |
Het |
| Orc5 |
A |
T |
5: 22,734,265 (GRCm39) |
L173Q |
probably damaging |
Het |
| Otud4 |
T |
G |
8: 80,399,930 (GRCm39) |
D880E |
probably benign |
Het |
| Pde12 |
T |
C |
14: 26,389,740 (GRCm39) |
Y323C |
probably damaging |
Het |
| Pde8b |
G |
T |
13: 95,189,409 (GRCm39) |
D198E |
probably benign |
Het |
| Prom2 |
T |
A |
2: 127,376,989 (GRCm39) |
I542F |
possibly damaging |
Het |
| Ptprj |
G |
A |
2: 90,283,488 (GRCm39) |
T952I |
probably benign |
Het |
| Ribc2 |
T |
A |
15: 85,016,458 (GRCm39) |
|
probably benign |
Het |
| Sec31b |
C |
T |
19: 44,520,142 (GRCm39) |
R214K |
probably damaging |
Het |
| Senp5 |
G |
A |
16: 31,802,303 (GRCm39) |
|
probably benign |
Het |
| Sh3pxd2a |
G |
A |
19: 47,271,517 (GRCm39) |
R249W |
probably damaging |
Het |
| Sorcs3 |
G |
A |
19: 48,711,441 (GRCm39) |
|
probably null |
Het |
| Spata31d1c |
A |
G |
13: 65,183,180 (GRCm39) |
T241A |
probably benign |
Het |
| Tac1 |
G |
A |
6: 7,555,650 (GRCm39) |
V13I |
probably benign |
Het |
| Tnnc2 |
T |
A |
2: 164,619,430 (GRCm39) |
D138V |
probably null |
Het |
| Tspan32 |
T |
A |
7: 142,571,329 (GRCm39) |
M159K |
possibly damaging |
Het |
| Ttc28 |
A |
T |
5: 111,434,105 (GRCm39) |
T2380S |
probably benign |
Het |
| Ubc |
T |
A |
5: 125,464,377 (GRCm39) |
I317F |
probably damaging |
Het |
| Usp24 |
T |
C |
4: 106,204,584 (GRCm39) |
S268P |
possibly damaging |
Het |
| Vmn2r91 |
C |
A |
17: 18,356,884 (GRCm39) |
H850Q |
probably benign |
Het |
| Xrn1 |
T |
C |
9: 95,900,234 (GRCm39) |
|
probably null |
Het |
| Zfp329 |
A |
C |
7: 12,544,043 (GRCm39) |
C494G |
probably damaging |
Het |
| Zfp54 |
T |
C |
17: 21,653,718 (GRCm39) |
S71P |
probably damaging |
Het |
|
| Other mutations in Klhl33 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01561:Klhl33
|
APN |
14 |
51,128,888 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01965:Klhl33
|
APN |
14 |
51,129,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02804:Klhl33
|
APN |
14 |
51,130,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0309:Klhl33
|
UTSW |
14 |
51,128,868 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0520:Klhl33
|
UTSW |
14 |
51,129,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0671:Klhl33
|
UTSW |
14 |
51,129,851 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0894:Klhl33
|
UTSW |
14 |
51,129,583 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0989:Klhl33
|
UTSW |
14 |
51,129,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1681:Klhl33
|
UTSW |
14 |
51,130,534 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1795:Klhl33
|
UTSW |
14 |
51,129,583 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2088:Klhl33
|
UTSW |
14 |
51,130,230 (GRCm39) |
nonsense |
probably null |
|
|
R3114:Klhl33
|
UTSW |
14 |
51,128,972 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5650:Klhl33
|
UTSW |
14 |
51,129,285 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5851:Klhl33
|
UTSW |
14 |
51,130,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5995:Klhl33
|
UTSW |
14 |
51,130,108 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6365:Klhl33
|
UTSW |
14 |
51,129,294 (GRCm39) |
missense |
probably benign |
|
|
R6434:Klhl33
|
UTSW |
14 |
51,130,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6803:Klhl33
|
UTSW |
14 |
51,134,192 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6881:Klhl33
|
UTSW |
14 |
51,128,929 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6932:Klhl33
|
UTSW |
14 |
51,129,373 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6953:Klhl33
|
UTSW |
14 |
51,128,973 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6998:Klhl33
|
UTSW |
14 |
51,130,478 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7545:Klhl33
|
UTSW |
14 |
51,130,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7985:Klhl33
|
UTSW |
14 |
51,128,962 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8370:Klhl33
|
UTSW |
14 |
51,129,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8371:Klhl33
|
UTSW |
14 |
51,129,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8372:Klhl33
|
UTSW |
14 |
51,129,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8798:Klhl33
|
UTSW |
14 |
51,130,565 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8923:Klhl33
|
UTSW |
14 |
51,129,882 (GRCm39) |
nonsense |
probably null |
|
|
R9027:Klhl33
|
UTSW |
14 |
51,130,322 (GRCm39) |
nonsense |
probably null |
|
|
R9326:Klhl33
|
UTSW |
14 |
51,134,615 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9341:Klhl33
|
UTSW |
14 |
51,133,903 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9343:Klhl33
|
UTSW |
14 |
51,133,903 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9354:Klhl33
|
UTSW |
14 |
51,130,385 (GRCm39) |
missense |
probably benign |
|
|
R9416:Klhl33
|
UTSW |
14 |
51,130,225 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9525:Klhl33
|
UTSW |
14 |
51,128,929 (GRCm39) |
missense |
probably null |
0.05 |
|
R9590:Klhl33
|
UTSW |
14 |
51,130,042 (GRCm39) |
missense |
probably benign |
|
|
R9657:Klhl33
|
UTSW |
14 |
51,134,117 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-12-18 |
Incidental Mutation