Incidental Mutation 'R5852:Klhl23'
| ID |
454710 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klhl23
|
| Ensembl Gene |
ENSMUSG00000042155 |
| Gene Name |
kelch-like 23 |
| Synonyms |
C130068N17Rik |
| MMRRC Submission |
043227-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.129)
|
| Stock # |
R5852 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
69652288-69666995 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 69654613 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 161
(I161N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000050219
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053087]
|
| AlphaFold |
Q6GQU2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053087
AA Change: I161N
PolyPhen 2
Score 0.438 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000050219
Gene: ENSMUSG00000042155
AA Change: I161N
| 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
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
T |
A |
12: 118,891,139 (GRCm39) |
I453F |
probably damaging |
Het |
| Anpep |
C |
T |
7: 79,488,720 (GRCm39) |
W402* |
probably null |
Het |
| Apcdd1 |
T |
C |
18: 63,070,134 (GRCm39) |
S134P |
probably damaging |
Het |
| Ccdc154 |
T |
C |
17: 25,382,183 (GRCm39) |
V34A |
probably benign |
Het |
| Cntn3 |
A |
T |
6: 102,397,377 (GRCm39) |
N65K |
probably damaging |
Het |
| Cntn6 |
G |
T |
6: 104,812,706 (GRCm39) |
V663F |
probably damaging |
Het |
| Crisp3 |
A |
T |
17: 40,536,711 (GRCm39) |
C201* |
probably null |
Het |
| Dnhd1 |
T |
A |
7: 105,344,955 (GRCm39) |
W2100R |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,011,290 (GRCm39) |
S3634R |
probably benign |
Het |
| Entrep2 |
T |
A |
7: 64,425,579 (GRCm39) |
H171L |
probably damaging |
Het |
| Gucy1a2 |
T |
C |
9: 3,865,460 (GRCm39) |
F645L |
probably damaging |
Het |
| Hs6st3 |
G |
T |
14: 120,106,738 (GRCm39) |
R382L |
probably damaging |
Het |
| Il27 |
T |
A |
7: 126,191,786 (GRCm39) |
T89S |
possibly damaging |
Het |
| Iqgap2 |
C |
T |
13: 95,811,880 (GRCm39) |
R707H |
probably damaging |
Het |
| Lrrk2 |
G |
A |
15: 91,640,152 (GRCm39) |
E1566K |
probably damaging |
Het |
| Mia3 |
A |
G |
1: 183,113,713 (GRCm39) |
V437A |
probably benign |
Het |
| Ncoa6 |
G |
T |
2: 155,247,419 (GRCm39) |
H1962N |
possibly damaging |
Het |
| Nox4 |
C |
T |
7: 86,988,172 (GRCm39) |
T361I |
probably damaging |
Het |
| Pappa2 |
T |
C |
1: 158,544,584 (GRCm39) |
Y1748C |
probably damaging |
Het |
| Phyhip |
T |
C |
14: 70,699,369 (GRCm39) |
|
probably null |
Het |
| Pkhd1 |
A |
G |
1: 20,447,632 (GRCm39) |
F2254L |
probably benign |
Het |
| Plxnb1 |
A |
G |
9: 108,935,518 (GRCm39) |
Y1018C |
probably damaging |
Het |
| Pnoc |
C |
T |
14: 65,648,671 (GRCm39) |
V8I |
probably benign |
Het |
| Prss29 |
A |
G |
17: 25,541,408 (GRCm39) |
D256G |
probably benign |
Het |
| Scrn3 |
T |
C |
2: 73,161,349 (GRCm39) |
F312L |
probably damaging |
Het |
| Sephs1 |
A |
G |
2: 4,904,339 (GRCm39) |
E239G |
possibly damaging |
Het |
| Tti1 |
A |
G |
2: 157,842,593 (GRCm39) |
L812P |
probably damaging |
Het |
| Wdr1 |
A |
G |
5: 38,694,518 (GRCm39) |
S62P |
probably benign |
Het |
| Zfp106 |
A |
G |
2: 120,346,487 (GRCm39) |
S1659P |
probably damaging |
Het |
| Zng1 |
A |
G |
19: 24,932,769 (GRCm39) |
V88A |
possibly damaging |
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 |
|
R4473:Klhl23
|
UTSW |
2 |
69,654,151 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5446:Klhl23
|
UTSW |
2 |
69,654,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- AGAGAAATGTACAGAGCCTTCTTG -3'
(R):5'- GAGCCGTCTTTAAGTACACTGG -3'
Sequencing Primer
(F):5'- TGTACAGAGCCTTCTTGAAGCAG -3'
(R):5'- CCGTCTTTAAGTACACTGGGTCTATG -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation