Incidental Mutation 'R3416:Klhl42'
| ID |
266800 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klhl42
|
| Ensembl Gene |
ENSMUSG00000040102 |
| Gene Name |
kelch-like 42 |
| Synonyms |
Klhdc5, C230080I20Rik |
| MMRRC Submission |
040634-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3416 (G1)
|
| Quality Score |
225 |
|
Status
|
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: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
100% (33/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1500009L16Rik |
T |
C |
10: 83,595,496 (GRCm39) |
|
probably null |
Het |
| Abi1 |
T |
C |
2: 22,930,014 (GRCm39) |
S22G |
probably damaging |
Het |
| Adgrl2 |
T |
C |
3: 148,564,965 (GRCm39) |
Y201C |
probably damaging |
Het |
| Adnp2 |
T |
C |
18: 80,171,373 (GRCm39) |
E1012G |
possibly damaging |
Het |
| Azin1 |
A |
T |
15: 38,493,790 (GRCm39) |
S278T |
possibly damaging |
Het |
| Crocc |
G |
A |
4: 140,773,758 (GRCm39) |
T103I |
possibly damaging |
Het |
| Cyb561d2 |
A |
G |
9: 107,417,325 (GRCm39) |
L142P |
probably damaging |
Het |
| Cyp4f39 |
T |
C |
17: 32,708,716 (GRCm39) |
V421A |
possibly damaging |
Het |
| Fryl |
T |
C |
5: 73,265,417 (GRCm39) |
Q510R |
possibly damaging |
Het |
| Gfra1 |
T |
C |
19: 58,255,544 (GRCm39) |
Y301C |
probably damaging |
Het |
| Igsf9b |
G |
A |
9: 27,220,774 (GRCm39) |
V47I |
possibly damaging |
Het |
| Mfsd13a |
C |
T |
19: 46,360,431 (GRCm39) |
R328C |
probably damaging |
Het |
| Mycs |
C |
T |
X: 5,380,810 (GRCm39) |
S90N |
possibly damaging |
Het |
| Or5p80 |
G |
A |
7: 108,229,225 (GRCm39) |
V9I |
possibly damaging |
Het |
| Pcdha8 |
A |
T |
18: 37,125,683 (GRCm39) |
Q55L |
probably benign |
Het |
| Pkhd1l1 |
A |
G |
15: 44,410,760 (GRCm39) |
T2756A |
probably damaging |
Het |
| Prl8a8 |
A |
T |
13: 27,695,532 (GRCm39) |
C71S |
probably damaging |
Het |
| Ralgapa1 |
T |
A |
12: 55,817,398 (GRCm39) |
|
probably benign |
Het |
| Rtl4 |
C |
T |
X: 143,902,901 (GRCm39) |
Q108* |
probably null |
Het |
| Scn4a |
A |
T |
11: 106,221,239 (GRCm39) |
S807T |
probably benign |
Het |
| Sla2 |
G |
A |
2: 156,717,862 (GRCm39) |
R137C |
probably damaging |
Het |
| Smg1 |
G |
C |
7: 117,748,076 (GRCm39) |
|
probably benign |
Het |
| Spata1 |
A |
T |
3: 146,193,263 (GRCm39) |
|
probably benign |
Het |
| Strbp |
C |
G |
2: 37,480,737 (GRCm39) |
R610T |
possibly damaging |
Het |
| Susd5 |
A |
G |
9: 113,924,726 (GRCm39) |
D203G |
possibly damaging |
Het |
| Tas2r124 |
A |
T |
6: 132,732,601 (GRCm39) |
R303S |
probably benign |
Het |
| Tgm3 |
G |
A |
2: 129,889,692 (GRCm39) |
V629M |
possibly damaging |
Het |
| Tha1 |
T |
C |
11: 117,764,026 (GRCm39) |
D67G |
possibly damaging |
Het |
| Vmn2r120 |
T |
A |
17: 57,816,241 (GRCm39) |
I705F |
possibly damaging |
Het |
| Vrk3 |
C |
T |
7: 44,424,866 (GRCm39) |
T427M |
probably benign |
Het |
| Zan |
T |
A |
5: 137,433,982 (GRCm39) |
E2250D |
unknown |
Het |
| Zfp560 |
A |
T |
9: 20,258,974 (GRCm39) |
Y629* |
probably null |
Het |
| Zftraf1 |
A |
T |
15: 76,542,915 (GRCm39) |
|
probably null |
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 |
|
R3415: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'- CAACATGAACATCCTGCAGTACTG -3'
(R):5'- TATGTCCGAAAGCTGGGAAC -3'
Sequencing Primer
(F):5'- CAGTACTGCCCCTCCGC -3'
(R):5'- GCTGTCAGCAAAGATGTTGTAC -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation