Incidental Mutation 'R3415:Klhl42'
| ID |
266763 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klhl42
|
| Ensembl Gene |
ENSMUSG00000040102 |
| Gene Name |
kelch-like 42 |
| Synonyms |
Klhdc5, C230080I20Rik |
| MMRRC Submission |
040633-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3415 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
146992877-147014276 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 147009378 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 406
(V406M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042558
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036003]
[ENSMUST00000203441]
|
| AlphaFold |
Q8BFQ9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036003
AA Change: V406M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000042558
Gene: ENSMUSG00000040102
AA Change: V406M
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
5 |
145 |
1.14e-1 |
SMART |
|
low complexity region
|
151 |
164 |
N/A |
INTRINSIC |
|
Kelch
|
242 |
289 |
1.79e-5 |
SMART |
|
Kelch
|
290 |
332 |
1.25e-9 |
SMART |
|
Kelch
|
333 |
379 |
1.56e1 |
SMART |
|
Blast:Kelch
|
380 |
437 |
3e-31 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203441
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203866
|
| Meta Mutation Damage Score |
0.6272 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ccdc39 |
C |
G |
3: 33,868,646 (GRCm39) |
L813F |
probably benign |
Het |
| Cdh13 |
A |
T |
8: 119,401,946 (GRCm39) |
D116V |
probably benign |
Het |
| Cep170 |
G |
T |
1: 176,583,610 (GRCm39) |
P923Q |
probably damaging |
Het |
| Chga |
A |
G |
12: 102,529,043 (GRCm39) |
E340G |
probably benign |
Het |
| Cmip |
T |
A |
8: 118,076,116 (GRCm39) |
|
probably null |
Het |
| Cnga4 |
A |
G |
7: 105,056,325 (GRCm39) |
Y309C |
probably damaging |
Het |
| Crocc |
G |
A |
4: 140,773,758 (GRCm39) |
T103I |
possibly damaging |
Het |
| Dph6 |
C |
T |
2: 114,348,768 (GRCm39) |
V267I |
probably benign |
Het |
| Ero1a |
T |
C |
14: 45,525,323 (GRCm39) |
T401A |
possibly damaging |
Het |
| Exoc6b |
C |
G |
6: 84,867,547 (GRCm39) |
L288F |
possibly damaging |
Het |
| Ifi203 |
G |
A |
1: 173,756,326 (GRCm39) |
R486* |
probably null |
Het |
| Igsf9b |
G |
A |
9: 27,220,774 (GRCm39) |
V47I |
possibly damaging |
Het |
| Lims2 |
A |
T |
18: 32,077,208 (GRCm39) |
Y58F |
probably damaging |
Het |
| Lrp12 |
A |
G |
15: 39,741,678 (GRCm39) |
F365L |
probably damaging |
Het |
| Lrrc37 |
A |
T |
11: 103,505,435 (GRCm39) |
S2178T |
possibly damaging |
Het |
| Mark4 |
T |
C |
7: 19,185,650 (GRCm39) |
D28G |
probably benign |
Het |
| Mfsd13a |
C |
T |
19: 46,360,431 (GRCm39) |
R328C |
probably damaging |
Het |
| Mmp1a |
A |
T |
9: 7,464,869 (GRCm39) |
K34N |
possibly damaging |
Het |
| Or4k2 |
T |
A |
14: 50,424,069 (GRCm39) |
T202S |
possibly damaging |
Het |
| P2rx5 |
G |
T |
11: 73,051,486 (GRCm39) |
V22L |
possibly damaging |
Het |
| Pnma8a |
A |
G |
7: 16,694,879 (GRCm39) |
R245G |
possibly damaging |
Het |
| Prpsap1 |
T |
C |
11: 116,369,410 (GRCm39) |
S179G |
probably benign |
Het |
| Specc1 |
A |
G |
11: 62,009,245 (GRCm39) |
T334A |
probably benign |
Het |
| Tas2r124 |
A |
T |
6: 132,732,601 (GRCm39) |
R303S |
probably benign |
Het |
| Tm7sf2 |
A |
G |
19: 6,113,629 (GRCm39) |
Y301H |
probably damaging |
Het |
| Unc13c |
G |
T |
9: 73,839,868 (GRCm39) |
H328N |
probably benign |
Het |
| Zfp641 |
T |
C |
15: 98,188,421 (GRCm39) |
D153G |
probably benign |
Het |
| Zp3 |
A |
G |
5: 136,014,514 (GRCm39) |
T278A |
probably benign |
Het |
| Zscan2 |
T |
A |
7: 80,525,150 (GRCm39) |
S290R |
probably damaging |
Het |
|
| Other mutations in Klhl42 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00339:Klhl42
|
APN |
6 |
147,003,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01401:Klhl42
|
APN |
6 |
147,009,241 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02590:Klhl42
|
APN |
6 |
146,993,810 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0045:Klhl42
|
UTSW |
6 |
146,993,666 (GRCm39) |
missense |
probably benign |
|
|
R1066:Klhl42
|
UTSW |
6 |
147,009,397 (GRCm39) |
missense |
probably benign |
|
|
R1920:Klhl42
|
UTSW |
6 |
147,009,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1951:Klhl42
|
UTSW |
6 |
146,993,321 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2017:Klhl42
|
UTSW |
6 |
147,009,291 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2021:Klhl42
|
UTSW |
6 |
146,993,394 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R2065:Klhl42
|
UTSW |
6 |
147,003,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2128:Klhl42
|
UTSW |
6 |
147,003,251 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2982:Klhl42
|
UTSW |
6 |
146,993,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3416:Klhl42
|
UTSW |
6 |
147,009,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3417:Klhl42
|
UTSW |
6 |
147,009,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4450:Klhl42
|
UTSW |
6 |
146,993,169 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4967:Klhl42
|
UTSW |
6 |
147,009,502 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5342:Klhl42
|
UTSW |
6 |
146,993,784 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5556:Klhl42
|
UTSW |
6 |
147,009,610 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6269:Klhl42
|
UTSW |
6 |
146,993,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7375:Klhl42
|
UTSW |
6 |
146,993,538 (GRCm39) |
missense |
probably benign |
|
|
R7769:Klhl42
|
UTSW |
6 |
146,993,358 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7848:Klhl42
|
UTSW |
6 |
147,009,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8353:Klhl42
|
UTSW |
6 |
147,009,421 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8466:Klhl42
|
UTSW |
6 |
147,009,241 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9615:Klhl42
|
UTSW |
6 |
147,009,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCGCAACATGAACATCCTGCAG -3'
(R):5'- ATGTCCGAAAGCTGGGAAC -3'
Sequencing Primer
(F):5'- ACATGAACATCCTGCAGTACTG -3'
(R):5'- GCTGTCAGCAAAGATGTTGTAC -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation