Incidental Mutation 'R4427:Klhl30'
ID |
328214 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Klhl30
|
Ensembl Gene |
ENSMUSG00000026308 |
Gene Name |
kelch-like 30 |
Synonyms |
4631423F02Rik |
MMRRC Submission |
041145-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4427 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
91278795-91290126 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 91281426 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 9
(D9G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027533
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027533]
|
AlphaFold |
Q8C3F7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027533
AA Change: D9G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000027533 Gene: ENSMUSG00000026308 AA Change: D9G
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 |
0.3826 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
Validation Efficiency |
96% (48/50) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930432E11Rik |
A |
T |
7: 29,278,678 (GRCm39) |
|
noncoding transcript |
Het |
A2ml1 |
T |
C |
6: 128,522,009 (GRCm39) |
E1271G |
probably benign |
Het |
Ccdc88b |
C |
T |
19: 6,827,940 (GRCm39) |
E878K |
probably damaging |
Het |
Cfap119 |
A |
G |
7: 127,187,288 (GRCm39) |
|
probably benign |
Het |
Crybg3 |
T |
C |
16: 59,363,562 (GRCm39) |
K2441E |
probably damaging |
Het |
Cryga |
A |
T |
1: 65,139,775 (GRCm39) |
I121N |
probably damaging |
Het |
Dst |
A |
T |
1: 34,220,541 (GRCm39) |
Q2115L |
probably benign |
Het |
Evi2 |
T |
A |
11: 79,407,182 (GRCm39) |
Q131L |
possibly damaging |
Het |
Exoc1 |
A |
G |
5: 76,711,110 (GRCm39) |
I61V |
probably benign |
Het |
Firrm |
A |
G |
1: 163,781,853 (GRCm39) |
V858A |
probably benign |
Het |
Frem2 |
A |
G |
3: 53,446,583 (GRCm39) |
|
probably null |
Het |
Gas2l1 |
A |
G |
11: 5,013,908 (GRCm39) |
V184A |
probably benign |
Het |
Gsto2 |
T |
C |
19: 47,860,212 (GRCm39) |
S2P |
possibly damaging |
Het |
Herc1 |
T |
C |
9: 66,403,287 (GRCm39) |
L4402P |
probably damaging |
Het |
Kcnd2 |
T |
A |
6: 21,216,896 (GRCm39) |
I200N |
probably damaging |
Het |
Ltf |
C |
A |
9: 110,852,672 (GRCm39) |
T178K |
probably damaging |
Het |
Memo1 |
T |
A |
17: 74,509,302 (GRCm39) |
Y239F |
probably benign |
Het |
Ogdh |
C |
T |
11: 6,305,421 (GRCm39) |
T972I |
probably benign |
Het |
Phactr4 |
T |
C |
4: 132,114,352 (GRCm39) |
D24G |
possibly damaging |
Het |
Pi4ka |
C |
T |
16: 17,098,908 (GRCm39) |
R1992H |
probably damaging |
Het |
Poc1b |
T |
C |
10: 98,991,001 (GRCm39) |
|
probably null |
Het |
Ppp1r9b |
A |
T |
11: 94,892,150 (GRCm39) |
R188S |
possibly damaging |
Het |
Pwwp2a |
T |
C |
11: 43,573,344 (GRCm39) |
V142A |
possibly damaging |
Het |
Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
Rap1gap2 |
C |
A |
11: 74,298,148 (GRCm39) |
A491S |
possibly damaging |
Het |
Rcsd1 |
C |
A |
1: 165,483,464 (GRCm39) |
V206L |
probably damaging |
Het |
Rps6ka2 |
T |
A |
17: 7,566,804 (GRCm39) |
D687E |
possibly damaging |
Het |
Sgce |
G |
A |
6: 4,691,459 (GRCm39) |
A295V |
probably damaging |
Het |
Siglec15 |
T |
G |
18: 78,086,836 (GRCm39) |
E341A |
possibly damaging |
Het |
Tcaim |
T |
C |
9: 122,643,561 (GRCm39) |
F87S |
probably benign |
Het |
Thbs2 |
C |
A |
17: 14,900,597 (GRCm39) |
V537L |
probably benign |
Het |
Timd6 |
T |
A |
11: 46,475,247 (GRCm39) |
F147L |
probably benign |
Het |
Tmx3 |
T |
A |
18: 90,541,725 (GRCm39) |
V158D |
probably damaging |
Het |
Tpm1 |
A |
G |
9: 66,939,847 (GRCm39) |
|
probably benign |
Het |
Trmt2a |
A |
G |
16: 18,067,093 (GRCm39) |
|
probably benign |
Het |
Ugcg |
T |
A |
4: 59,219,555 (GRCm39) |
F297L |
probably benign |
Het |
Utp18 |
T |
C |
11: 93,757,264 (GRCm39) |
N467D |
probably damaging |
Het |
Vmn2r73 |
A |
G |
7: 85,506,981 (GRCm39) |
F777S |
probably damaging |
Het |
Vwc2 |
A |
G |
11: 11,104,235 (GRCm39) |
T256A |
probably damaging |
Het |
Zfp300 |
C |
T |
X: 20,949,405 (GRCm39) |
V120I |
possibly damaging |
Het |
Zfp982 |
A |
T |
4: 147,597,080 (GRCm39) |
R146* |
probably null |
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 |
R1374:Klhl30
|
UTSW |
1 |
91,288,798 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- ATGTCCAAAGTGGCCCTCAC -3'
(R):5'- CTCTCAGTGAAGTCTCCAGCAAAC -3'
Sequencing Primer
(F):5'- CAGCTGATGTCCAGACAGTC -3'
(R):5'- GTCTCCAGCAAACATGGCATGG -3'
|
Posted On |
2015-07-07 |