Incidental Mutation 'R8378:Klhl30'
| ID |
646791 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klhl30
|
| Ensembl Gene |
ENSMUSG00000026308 |
| Gene Name |
kelch-like 30 |
| Synonyms |
4631423F02Rik |
| MMRRC Submission |
067746-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8378 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
91278795-91290126 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 91285494 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 339
(K339*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027533
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027533]
|
| AlphaFold |
Q8C3F7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000027533
AA Change: K339*
|
| SMART Domains |
Protein: ENSMUSP00000027533
Gene: ENSMUSG00000026308
AA Change: K339*
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933412E24Rik |
A |
G |
15: 59,886,967 (GRCm39) |
I491T |
probably damaging |
Het |
| Aadacl4fm4 |
C |
G |
4: 144,397,169 (GRCm39) |
V188L |
probably benign |
Het |
| Alkal2 |
G |
T |
12: 30,934,850 (GRCm39) |
G23V |
probably damaging |
Het |
| Ankrd40 |
G |
T |
11: 94,225,662 (GRCm39) |
G231V |
probably damaging |
Het |
| Ap1s3 |
T |
C |
1: 79,601,445 (GRCm39) |
E82G |
probably damaging |
Het |
| Bmp3 |
A |
G |
5: 99,003,248 (GRCm39) |
N93D |
probably damaging |
Het |
| Car9 |
C |
T |
4: 43,509,021 (GRCm39) |
R224C |
probably damaging |
Het |
| Cass4 |
T |
C |
2: 172,269,714 (GRCm39) |
C599R |
probably benign |
Het |
| Ccdc171 |
A |
G |
4: 83,782,490 (GRCm39) |
N1261D |
possibly damaging |
Het |
| Cdc42bpa |
A |
G |
1: 179,989,709 (GRCm39) |
D1726G |
probably damaging |
Het |
| Ceacam2 |
G |
A |
7: 25,217,597 (GRCm39) |
A306V |
probably damaging |
Het |
| Crebrf |
G |
T |
17: 26,981,263 (GRCm39) |
L546F |
probably damaging |
Het |
| Crhr2 |
A |
G |
6: 55,069,941 (GRCm39) |
F370S |
probably damaging |
Het |
| Dhtkd1 |
T |
C |
2: 5,922,699 (GRCm39) |
T487A |
probably benign |
Het |
| Diaph1 |
G |
A |
18: 38,025,006 (GRCm39) |
A485V |
unknown |
Het |
| Dmbt1 |
T |
C |
7: 130,708,195 (GRCm39) |
V1479A |
probably damaging |
Het |
| Efemp1 |
C |
T |
11: 28,871,765 (GRCm39) |
R427W |
probably damaging |
Het |
| Gm11444 |
C |
A |
11: 85,741,075 (GRCm39) |
W28L |
|
Het |
| Golga4 |
A |
G |
9: 118,387,390 (GRCm39) |
D1504G |
probably benign |
Het |
| Hirip3 |
A |
G |
7: 126,462,757 (GRCm39) |
S238G |
probably benign |
Het |
| Igkv1-135 |
T |
A |
6: 67,587,378 (GRCm39) |
V83D |
possibly damaging |
Het |
| Ippk |
T |
A |
13: 49,589,055 (GRCm39) |
C183* |
probably null |
Het |
| Itgb3 |
A |
G |
11: 104,533,142 (GRCm39) |
T419A |
possibly damaging |
Het |
| Kcnt1 |
A |
G |
2: 25,797,283 (GRCm39) |
H129R |
probably benign |
Het |
| Kif18b |
A |
T |
11: 102,807,299 (GRCm39) |
V12E |
probably damaging |
Het |
| Kif2b |
C |
A |
11: 91,467,201 (GRCm39) |
G361C |
possibly damaging |
Het |
| Lrfn1 |
A |
G |
7: 28,159,157 (GRCm39) |
I359V |
probably benign |
Het |
| Naip2 |
A |
C |
13: 100,298,290 (GRCm39) |
I582S |
probably benign |
Het |
| Ndufaf2 |
C |
A |
13: 108,189,387 (GRCm39) |
L120F |
probably damaging |
Het |
| Nlrp1b |
A |
G |
11: 71,052,545 (GRCm39) |
V961A |
possibly damaging |
Het |
| Or12e10 |
T |
A |
2: 87,640,394 (GRCm39) |
Y77N |
probably damaging |
Het |
| Or2h15 |
A |
G |
17: 38,441,678 (GRCm39) |
V135A |
probably benign |
Het |
| Pcnx2 |
G |
A |
8: 126,487,649 (GRCm39) |
P1785S |
probably damaging |
Het |
| Pcyt2 |
A |
G |
11: 120,504,234 (GRCm39) |
Y170H |
probably benign |
Het |
| Phf8-ps |
C |
A |
17: 33,286,038 (GRCm39) |
A255S |
probably benign |
Het |
| Rfx8 |
T |
A |
1: 39,709,581 (GRCm39) |
D482V |
probably damaging |
Het |
| Rilpl1 |
T |
C |
5: 124,668,964 (GRCm39) |
Y28C |
probably damaging |
Het |
| Sgce |
G |
C |
6: 4,689,760 (GRCm39) |
L394V |
probably damaging |
Het |
| Sgce |
T |
A |
6: 4,691,525 (GRCm39) |
Y350F |
probably benign |
Het |
| Tbk1 |
A |
G |
10: 121,414,597 (GRCm39) |
V39A |
probably damaging |
Het |
| Tns1 |
T |
A |
1: 73,976,405 (GRCm39) |
I1148F |
probably damaging |
Het |
| Vmn1r192 |
T |
A |
13: 22,372,029 (GRCm39) |
R64* |
probably null |
Het |
| Vmn2r68 |
A |
T |
7: 84,871,108 (GRCm39) |
V725E |
probably benign |
Het |
| Yy1 |
A |
T |
12: 108,759,562 (GRCm39) |
H75L |
unknown |
Het |
| Zwilch |
A |
T |
9: 64,060,240 (GRCm39) |
V366D |
possibly 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 |
|
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 |
|
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 |
|
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'- TCTACACCTCTGAAAGTGACGG -3'
(R):5'- CTGTGGCTCTAGGAATAAGGGG -3'
Sequencing Primer
(F):5'- CTCTGAAAGTGACGGATCTCCAG -3'
(R):5'- GCTCTAGGAATAAGGGGTATGTATG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation