Incidental Mutation 'R1374:Klhl30'
| ID |
157428 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klhl30
|
| Ensembl Gene |
ENSMUSG00000026308 |
| Gene Name |
kelch-like 30 |
| Synonyms |
4631423F02Rik |
| MMRRC Submission |
039438-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1374 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
91278795-91290126 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 91288798 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 519
(T519M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027533
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027533]
|
| AlphaFold |
Q8C3F7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027533
AA Change: T519M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027533
Gene: ENSMUSG00000026308
AA Change: T519M
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
33 |
130 |
1.41e-24 |
SMART |
|
BACK
|
135 |
237 |
5.11e-26 |
SMART |
|
Kelch
|
328 |
378 |
2.2e-5 |
SMART |
|
Kelch
|
379 |
423 |
7.4e-2 |
SMART |
|
Kelch
|
473 |
514 |
1e1 |
SMART |
|
Kelch
|
515 |
564 |
2.7e0 |
SMART |
|
| Meta Mutation Damage Score |
0.1482 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.4%
- 20x: 90.1%
|
| Validation Efficiency |
100% (38/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap5z1 |
G |
A |
5: 142,456,213 (GRCm39) |
R344H |
probably damaging |
Het |
| Ccdc38 |
C |
T |
10: 93,418,296 (GRCm39) |
|
probably benign |
Het |
| Cd47 |
T |
C |
16: 49,714,543 (GRCm39) |
L184P |
probably damaging |
Het |
| Cps1 |
T |
C |
1: 67,269,440 (GRCm39) |
S1480P |
probably damaging |
Het |
| Cyp2a4 |
A |
G |
7: 26,012,348 (GRCm39) |
D377G |
probably damaging |
Het |
| Ddb1 |
G |
A |
19: 10,585,682 (GRCm39) |
G132D |
probably damaging |
Het |
| Dlgap2 |
T |
C |
8: 14,881,228 (GRCm39) |
|
probably benign |
Het |
| Epg5 |
A |
G |
18: 78,024,541 (GRCm39) |
D1132G |
probably benign |
Het |
| Fam184b |
T |
C |
5: 45,712,485 (GRCm39) |
E511G |
probably benign |
Het |
| Fbn1 |
T |
A |
2: 125,188,354 (GRCm39) |
D1495V |
probably damaging |
Het |
| Gpatch1 |
A |
T |
7: 34,991,187 (GRCm39) |
L619Q |
probably damaging |
Het |
| Inpp4b |
T |
G |
8: 82,470,445 (GRCm39) |
|
probably null |
Het |
| Kifc1 |
T |
C |
17: 34,102,849 (GRCm39) |
R192G |
probably benign |
Het |
| Klhl8 |
A |
C |
5: 104,011,049 (GRCm39) |
L516R |
probably damaging |
Het |
| Meikin |
T |
A |
11: 54,289,270 (GRCm39) |
|
probably benign |
Het |
| Mlph |
T |
A |
1: 90,869,425 (GRCm39) |
S476T |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,133,401 (GRCm39) |
Y3379C |
probably damaging |
Het |
| Nfxl1 |
G |
A |
5: 72,681,488 (GRCm39) |
T681I |
probably benign |
Het |
| Nhsl3 |
A |
G |
4: 129,116,082 (GRCm39) |
S849P |
possibly damaging |
Het |
| Obox1 |
A |
T |
7: 15,289,426 (GRCm39) |
|
probably benign |
Het |
| Oplah |
G |
A |
15: 76,190,755 (GRCm39) |
R31C |
probably damaging |
Het |
| Polb |
T |
C |
8: 23,143,073 (GRCm39) |
|
probably benign |
Het |
| Ppfibp2 |
A |
G |
7: 107,285,195 (GRCm39) |
|
probably benign |
Het |
| Prr12 |
A |
G |
7: 44,695,642 (GRCm39) |
S1275P |
unknown |
Het |
| Ptcd3 |
C |
A |
6: 71,885,637 (GRCm39) |
E30* |
probably null |
Het |
| Ranbp2 |
T |
C |
10: 58,321,715 (GRCm39) |
|
probably benign |
Het |
| Rapgef2 |
A |
G |
3: 78,995,275 (GRCm39) |
V791A |
probably benign |
Het |
| Rbpms2 |
ACTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGC |
9: 65,558,948 (GRCm39) |
|
probably benign |
Het |
| Rims1 |
G |
A |
1: 22,367,172 (GRCm39) |
T1176M |
probably damaging |
Het |
| Ripor2 |
T |
C |
13: 24,857,095 (GRCm39) |
|
probably null |
Het |
| Sae1 |
A |
G |
7: 16,112,333 (GRCm39) |
I60T |
probably damaging |
Het |
| Tenm2 |
T |
C |
11: 35,899,281 (GRCm39) |
T2626A |
probably benign |
Het |
| Trrap |
A |
G |
5: 144,783,428 (GRCm39) |
Q3419R |
probably damaging |
Het |
| Vill |
C |
A |
9: 118,890,562 (GRCm39) |
N158K |
probably benign |
Het |
| Zbtb14 |
A |
G |
17: 69,694,575 (GRCm39) |
N91S |
probably damaging |
Het |
| Zfp248 |
A |
G |
6: 118,410,334 (GRCm39) |
L25P |
probably damaging |
Het |
| Zmym1 |
T |
A |
4: 126,943,404 (GRCm39) |
K230I |
probably damaging |
Het |
|
| Other mutations in Klhl30 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00229:Klhl30
|
APN |
1 |
91,281,879 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL01485:Klhl30
|
APN |
1 |
91,281,761 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02698:Klhl30
|
APN |
1 |
91,281,429 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02751:Klhl30
|
APN |
1 |
91,281,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB006:Klhl30
|
UTSW |
1 |
91,283,238 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
BB016:Klhl30
|
UTSW |
1 |
91,283,238 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0458:Klhl30
|
UTSW |
1 |
91,288,718 (GRCm39) |
splice site |
probably benign |
|
|
R0578:Klhl30
|
UTSW |
1 |
91,282,074 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0621:Klhl30
|
UTSW |
1 |
91,285,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0645:Klhl30
|
UTSW |
1 |
91,283,228 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1240:Klhl30
|
UTSW |
1 |
91,288,737 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2029:Klhl30
|
UTSW |
1 |
91,285,636 (GRCm39) |
splice site |
probably null |
|
|
R2126:Klhl30
|
UTSW |
1 |
91,286,499 (GRCm39) |
splice site |
probably null |
|
|
R2152:Klhl30
|
UTSW |
1 |
91,285,546 (GRCm39) |
missense |
probably benign |
0.32 |
|
R3913:Klhl30
|
UTSW |
1 |
91,287,166 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4031:Klhl30
|
UTSW |
1 |
91,288,879 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4116:Klhl30
|
UTSW |
1 |
91,281,830 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4427:Klhl30
|
UTSW |
1 |
91,281,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4561:Klhl30
|
UTSW |
1 |
91,288,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4896:Klhl30
|
UTSW |
1 |
91,287,046 (GRCm39) |
splice site |
probably null |
|
|
R4961:Klhl30
|
UTSW |
1 |
91,285,106 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5004:Klhl30
|
UTSW |
1 |
91,287,046 (GRCm39) |
splice site |
probably null |
|
|
R5062:Klhl30
|
UTSW |
1 |
91,283,300 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6298:Klhl30
|
UTSW |
1 |
91,285,086 (GRCm39) |
missense |
probably benign |
0.24 |
|
R6299:Klhl30
|
UTSW |
1 |
91,285,636 (GRCm39) |
splice site |
probably null |
|
|
R6393:Klhl30
|
UTSW |
1 |
91,288,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6962:Klhl30
|
UTSW |
1 |
91,285,137 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7461:Klhl30
|
UTSW |
1 |
91,285,130 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7849:Klhl30
|
UTSW |
1 |
91,287,059 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7929:Klhl30
|
UTSW |
1 |
91,283,238 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8378:Klhl30
|
UTSW |
1 |
91,285,494 (GRCm39) |
nonsense |
probably null |
|
|
R8944:Klhl30
|
UTSW |
1 |
91,287,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9790:Klhl30
|
UTSW |
1 |
91,282,089 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9791:Klhl30
|
UTSW |
1 |
91,282,089 (GRCm39) |
missense |
probably benign |
0.23 |
|
Z1176:Klhl30
|
UTSW |
1 |
91,287,187 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGATAGAGCCACAGTGAGCAGTG -3'
(R):5'- GGGCTGTGTCCATTTGGAGACATC -3'
Sequencing Primer
(F):5'- ggggagagggagaaggg -3'
(R):5'- TCCATTTGGAGACATCCAGAAAG -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation