Incidental Mutation 'R4473:Klhl23'
| ID |
330443 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klhl23
|
| Ensembl Gene |
ENSMUSG00000042155 |
| Gene Name |
kelch-like 23 |
| Synonyms |
C130068N17Rik |
| MMRRC Submission |
041730-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.129)
|
| Stock # |
R4473 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
69652288-69666995 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 69654151 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 7
(E7G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000050219
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053087]
|
| AlphaFold |
Q6GQU2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000053087
AA Change: E7G
PolyPhen 2
Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000050219
Gene: ENSMUSG00000042155
AA Change: E7G
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
36 |
134 |
8.34e-27 |
SMART |
|
BACK
|
139 |
240 |
8.51e-23 |
SMART |
|
Kelch
|
274 |
319 |
5.19e0 |
SMART |
|
Kelch
|
321 |
369 |
5.85e-10 |
SMART |
|
Kelch
|
370 |
416 |
7.78e-6 |
SMART |
|
Kelch
|
417 |
466 |
2.11e-1 |
SMART |
|
Kelch
|
467 |
508 |
3.8e-9 |
SMART |
|
Kelch
|
509 |
557 |
2.25e-11 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135759
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152898
|
| Meta Mutation Damage Score |
0.0881 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
100% (36/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot7 |
C |
A |
4: 152,291,313 (GRCm39) |
T93K |
probably damaging |
Het |
| Actg1 |
G |
A |
11: 120,239,085 (GRCm39) |
R2C |
probably benign |
Het |
| Alb |
T |
C |
5: 90,611,912 (GRCm39) |
C114R |
probably damaging |
Het |
| Alpk1 |
T |
C |
3: 127,473,667 (GRCm39) |
T779A |
probably damaging |
Het |
| Atp2a2 |
A |
T |
5: 122,595,327 (GRCm39) |
S1008T |
probably benign |
Het |
| Corin |
T |
C |
5: 72,496,400 (GRCm39) |
S510G |
probably damaging |
Het |
| D630003M21Rik |
G |
A |
2: 158,055,382 (GRCm39) |
P585L |
probably damaging |
Het |
| Eddm3b |
A |
G |
14: 51,354,236 (GRCm39) |
T75A |
probably benign |
Het |
| Elavl2 |
T |
C |
4: 91,149,246 (GRCm39) |
|
probably null |
Het |
| Erc1 |
G |
T |
6: 119,825,417 (GRCm39) |
|
probably null |
Het |
| Fancf |
A |
G |
7: 51,511,948 (GRCm39) |
C19R |
probably benign |
Het |
| Fastkd2 |
T |
C |
1: 63,770,833 (GRCm39) |
L63P |
probably damaging |
Het |
| Fmo1 |
A |
G |
1: 162,677,732 (GRCm39) |
V128A |
possibly damaging |
Het |
| Ifnar1 |
T |
C |
16: 91,292,058 (GRCm39) |
V133A |
probably damaging |
Het |
| Ighv1-49 |
A |
T |
12: 115,018,959 (GRCm39) |
Y79N |
probably damaging |
Het |
| Mthfd2 |
A |
G |
6: 83,287,517 (GRCm39) |
|
probably benign |
Het |
| Or5d35 |
T |
A |
2: 87,855,464 (GRCm39) |
Y133N |
probably damaging |
Het |
| Parn |
A |
G |
16: 13,482,549 (GRCm39) |
S100P |
probably benign |
Het |
| Podnl1 |
A |
T |
8: 84,858,614 (GRCm39) |
I505F |
possibly damaging |
Het |
| Ppp6r3 |
G |
T |
19: 3,561,978 (GRCm39) |
Q228K |
probably damaging |
Het |
| Pramel38 |
A |
G |
5: 94,366,029 (GRCm39) |
N49S |
probably benign |
Het |
| Rab22a |
C |
T |
2: 173,537,056 (GRCm39) |
T85M |
probably damaging |
Het |
| Siah1b |
G |
A |
X: 162,854,688 (GRCm39) |
P131S |
probably damaging |
Het |
| Skor2 |
C |
T |
18: 76,947,156 (GRCm39) |
P293S |
unknown |
Het |
| Sox18 |
T |
C |
2: 181,312,669 (GRCm39) |
K154R |
probably damaging |
Het |
| Tfpi |
A |
T |
2: 84,288,426 (GRCm39) |
L10Q |
probably null |
Het |
| Trim66 |
A |
T |
7: 109,081,202 (GRCm39) |
I239N |
probably damaging |
Het |
| Ttll1 |
T |
A |
15: 83,376,810 (GRCm39) |
K304N |
probably damaging |
Het |
| Vmn1r5 |
G |
A |
6: 56,962,633 (GRCm39) |
V103I |
probably benign |
Het |
| Vnn1 |
T |
C |
10: 23,770,789 (GRCm39) |
W6R |
probably benign |
Het |
| Wdr35 |
A |
G |
12: 9,065,995 (GRCm39) |
Y651C |
probably benign |
Het |
|
| Other mutations in Klhl23 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02582:Klhl23
|
APN |
2 |
69,654,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02637:Klhl23
|
APN |
2 |
69,659,258 (GRCm39) |
nonsense |
probably null |
|
|
R0128:Klhl23
|
UTSW |
2 |
69,664,310 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0130:Klhl23
|
UTSW |
2 |
69,664,310 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0333:Klhl23
|
UTSW |
2 |
69,664,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0538:Klhl23
|
UTSW |
2 |
69,654,757 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1466:Klhl23
|
UTSW |
2 |
69,664,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1466:Klhl23
|
UTSW |
2 |
69,664,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1584:Klhl23
|
UTSW |
2 |
69,664,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1970:Klhl23
|
UTSW |
2 |
69,664,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2102:Klhl23
|
UTSW |
2 |
69,659,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4236:Klhl23
|
UTSW |
2 |
69,654,516 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5446:Klhl23
|
UTSW |
2 |
69,654,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5852:Klhl23
|
UTSW |
2 |
69,654,613 (GRCm39) |
missense |
probably benign |
0.44 |
|
R6143:Klhl23
|
UTSW |
2 |
69,664,040 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R6151:Klhl23
|
UTSW |
2 |
69,655,198 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6277:Klhl23
|
UTSW |
2 |
69,664,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7030:Klhl23
|
UTSW |
2 |
69,664,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7303:Klhl23
|
UTSW |
2 |
69,655,045 (GRCm39) |
missense |
probably benign |
0.42 |
|
R7724:Klhl23
|
UTSW |
2 |
69,655,056 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8330:Klhl23
|
UTSW |
2 |
69,654,496 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8913:Klhl23
|
UTSW |
2 |
69,664,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9067:Klhl23
|
UTSW |
2 |
69,664,083 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9720:Klhl23
|
UTSW |
2 |
69,654,804 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
X0066:Klhl23
|
UTSW |
2 |
69,654,132 (GRCm39) |
start codon destroyed |
possibly damaging |
0.75 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCGCATTTTGCATATGGTG -3'
(R):5'- ATATCATGGTGGATGCCCGAC -3'
Sequencing Primer
(F):5'- CATTTTGCATATGGTGTTTGGGCATC -3'
(R):5'- ATGTCAGCTGTGAACATTGCC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation