Incidental Mutation 'IGL02310:Klhl36'
| ID |
287788 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Klhl36
|
| Ensembl Gene |
ENSMUSG00000031828 |
| Gene Name |
kelch-like 36 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.804)
|
| Stock # |
IGL02310
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
120589005-120603734 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 120596356 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034287
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034287]
[ENSMUST00000034287]
|
| AlphaFold |
Q8R124 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000034287
|
| SMART Domains |
Protein: ENSMUSP00000034287
Gene: ENSMUSG00000031828
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
45 |
142 |
2.05e-26 |
SMART |
|
BACK
|
147 |
249 |
1.76e-15 |
SMART |
|
Kelch
|
294 |
343 |
7.59e-2 |
SMART |
|
Kelch
|
344 |
395 |
6.67e-5 |
SMART |
|
Kelch
|
396 |
442 |
2.86e-4 |
SMART |
|
Kelch
|
443 |
491 |
2.86e-4 |
SMART |
|
Kelch
|
492 |
544 |
2.23e-1 |
SMART |
|
Kelch
|
545 |
593 |
1.81e-6 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000034287
|
| SMART Domains |
Protein: ENSMUSP00000034287
Gene: ENSMUSG00000031828
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
45 |
142 |
2.05e-26 |
SMART |
|
BACK
|
147 |
249 |
1.76e-15 |
SMART |
|
Kelch
|
294 |
343 |
7.59e-2 |
SMART |
|
Kelch
|
344 |
395 |
6.67e-5 |
SMART |
|
Kelch
|
396 |
442 |
2.86e-4 |
SMART |
|
Kelch
|
443 |
491 |
2.86e-4 |
SMART |
|
Kelch
|
492 |
544 |
2.23e-1 |
SMART |
|
Kelch
|
545 |
593 |
1.81e-6 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212636
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212970
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano4 |
T |
A |
10: 88,859,740 (GRCm39) |
K382* |
probably null |
Het |
| Apoc2l |
A |
G |
7: 19,405,688 (GRCm39) |
*98Q |
probably null |
Het |
| Bcl9l |
A |
G |
9: 44,420,602 (GRCm39) |
Y1299C |
probably damaging |
Het |
| Best1 |
T |
A |
19: 9,966,516 (GRCm39) |
H357L |
probably benign |
Het |
| Cdc26 |
T |
C |
4: 62,313,266 (GRCm39) |
|
probably benign |
Het |
| Esyt2 |
C |
T |
12: 116,329,541 (GRCm39) |
L700F |
probably benign |
Het |
| Fkbp15 |
T |
C |
4: 62,258,553 (GRCm39) |
Y138C |
probably damaging |
Het |
| Gbp6 |
T |
C |
5: 105,438,841 (GRCm39) |
N16D |
probably benign |
Het |
| Hecw2 |
T |
C |
1: 53,963,075 (GRCm39) |
D812G |
probably null |
Het |
| Hic2 |
G |
A |
16: 17,075,621 (GRCm39) |
R150Q |
probably damaging |
Het |
| Kif21b |
T |
A |
1: 136,087,495 (GRCm39) |
L937Q |
probably damaging |
Het |
| Matcap2 |
A |
G |
9: 22,335,724 (GRCm39) |
Y114C |
probably benign |
Het |
| Mug2 |
C |
T |
6: 122,036,082 (GRCm39) |
|
probably benign |
Het |
| Or9s14 |
T |
C |
1: 92,535,787 (GRCm39) |
V76A |
possibly damaging |
Het |
| Pdcl2 |
A |
T |
5: 76,465,728 (GRCm39) |
I116N |
probably damaging |
Het |
| Pip4p1 |
T |
C |
14: 51,166,667 (GRCm39) |
T187A |
possibly damaging |
Het |
| Pkn2 |
A |
G |
3: 142,517,341 (GRCm39) |
I482T |
probably damaging |
Het |
| Prss53 |
T |
G |
7: 127,485,786 (GRCm39) |
D518A |
probably benign |
Het |
| Psme4 |
A |
G |
11: 30,787,484 (GRCm39) |
D1093G |
probably benign |
Het |
| Tmcc2 |
A |
T |
1: 132,286,645 (GRCm39) |
I602N |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,619,035 (GRCm39) |
V16115I |
possibly damaging |
Het |
| Zbtb21 |
G |
T |
16: 97,752,990 (GRCm39) |
T459K |
possibly damaging |
Het |
|
| Other mutations in Klhl36 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01544:Klhl36
|
APN |
8 |
120,596,755 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02952:Klhl36
|
APN |
8 |
120,597,223 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03027:Klhl36
|
APN |
8 |
120,603,229 (GRCm39) |
missense |
probably benign |
0.33 |
|
R0440:Klhl36
|
UTSW |
8 |
120,603,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1918:Klhl36
|
UTSW |
8 |
120,603,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2141:Klhl36
|
UTSW |
8 |
120,603,511 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2762:Klhl36
|
UTSW |
8 |
120,596,713 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4184:Klhl36
|
UTSW |
8 |
120,601,124 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6268:Klhl36
|
UTSW |
8 |
120,597,406 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6899:Klhl36
|
UTSW |
8 |
120,596,881 (GRCm39) |
missense |
probably benign |
|
|
R7057:Klhl36
|
UTSW |
8 |
120,603,536 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7152:Klhl36
|
UTSW |
8 |
120,596,953 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7431:Klhl36
|
UTSW |
8 |
120,597,121 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7438:Klhl36
|
UTSW |
8 |
120,596,914 (GRCm39) |
nonsense |
probably null |
|
|
R7751:Klhl36
|
UTSW |
8 |
120,596,397 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7883:Klhl36
|
UTSW |
8 |
120,601,217 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8897:Klhl36
|
UTSW |
8 |
120,597,279 (GRCm39) |
missense |
probably benign |
0.29 |
|
R8969:Klhl36
|
UTSW |
8 |
120,596,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9530:Klhl36
|
UTSW |
8 |
120,591,808 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9776:Klhl36
|
UTSW |
8 |
120,601,129 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation