Incidental Mutation 'R2982:Klhl42'
| ID |
257098 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klhl42
|
| Ensembl Gene |
ENSMUSG00000040102 |
| Gene Name |
kelch-like 42 |
| Synonyms |
Klhdc5, C230080I20Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2982 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
146992877-147014276 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 146993114 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 29
(Y29H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042558
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036003]
[ENSMUST00000100780]
[ENSMUST00000123367]
|
| AlphaFold |
Q8BFQ9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036003
AA Change: Y29H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000042558
Gene: ENSMUSG00000040102
AA Change: Y29H
| 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: ENSMUST00000100780
|
| SMART Domains |
Protein: ENSMUSP00000098343
Gene: ENSMUSG00000072662
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
MANEC
|
24 |
113 |
5.4e-34 |
SMART |
|
low complexity region
|
263 |
274 |
N/A |
INTRINSIC |
|
transmembrane domain
|
284 |
306 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123367
|
| SMART Domains |
Protein: ENSMUSP00000144765
Gene: ENSMUSG00000072662
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
MANEC
|
24 |
113 |
9.4e-40 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cd200r3 |
T |
A |
16: 44,774,552 (GRCm39) |
D188E |
probably benign |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fgfr1 |
T |
C |
8: 26,048,227 (GRCm39) |
F106L |
probably benign |
Het |
| Hpse2 |
T |
A |
19: 43,373,182 (GRCm39) |
D149V |
probably null |
Het |
| Hsd3b5 |
T |
A |
3: 98,527,116 (GRCm39) |
D110V |
possibly damaging |
Het |
| Klk1 |
G |
A |
7: 43,878,863 (GRCm39) |
C117Y |
probably damaging |
Het |
| Mfhas1 |
T |
C |
8: 36,058,269 (GRCm39) |
Y915H |
probably benign |
Het |
| Msantd2 |
A |
G |
9: 37,434,639 (GRCm39) |
Q293R |
probably damaging |
Het |
| Or1l4b |
G |
T |
2: 37,036,393 (GRCm39) |
M56I |
probably damaging |
Het |
| Or7a36 |
T |
C |
10: 78,820,274 (GRCm39) |
S217P |
probably damaging |
Het |
| Or9g20 |
T |
A |
2: 85,629,694 (GRCm39) |
I307F |
probably benign |
Het |
| Osgin1 |
T |
G |
8: 120,169,274 (GRCm39) |
L35R |
probably damaging |
Het |
| Rufy1 |
C |
T |
11: 50,310,535 (GRCm39) |
R210K |
possibly damaging |
Het |
| Spats2 |
T |
C |
15: 99,108,927 (GRCm39) |
S426P |
probably benign |
Het |
| Tnc |
T |
A |
4: 63,938,756 (GRCm39) |
I28F |
possibly damaging |
Het |
| Ttc23l |
CT |
CTTGGATT |
15: 10,537,648 (GRCm39) |
|
probably benign |
Het |
| Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
| Zfp512 |
C |
A |
5: 31,634,122 (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 |
|
R3415:Klhl42
|
UTSW |
6 |
147,009,378 (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'- AGATCAGAGAGGCCGTTTACTCG -3'
(R):5'- CATCTCGGACAGCACACTAG -3'
Sequencing Primer
(F):5'- TACTCGGAGGGCGTGTGAC -3'
(R):5'- GGACAGCACACTAGCCTCG -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation