Incidental Mutation 'R7688:Klhl6'
| ID |
593221 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klhl6
|
| Ensembl Gene |
ENSMUSG00000043008 |
| Gene Name |
kelch-like 6 |
| Synonyms |
|
| MMRRC Submission |
045752-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R7688 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
19765242-19801766 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 19765881 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 574
(V574L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053023
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058839]
|
| AlphaFold |
Q6V595 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000058839
AA Change: V574L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000053023
Gene: ENSMUSG00000043008
AA Change: V574L
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
70 |
167 |
1.43e-25 |
SMART |
|
BACK
|
172 |
274 |
1.68e-35 |
SMART |
|
Kelch
|
376 |
419 |
3.05e-1 |
SMART |
|
Kelch
|
420 |
466 |
6.82e-11 |
SMART |
|
Kelch
|
467 |
514 |
4.27e-3 |
SMART |
|
Kelch
|
515 |
556 |
3.06e-4 |
SMART |
|
Kelch
|
557 |
604 |
3.47e-3 |
SMART |
|
| Meta Mutation Damage Score |
0.4896 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (47/47) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the kelch-like (KLHL) family of proteins, which is involved in B-lymphocyte antigen receptor signaling and germinal-center B-cell maturation. The encoded protein contains an N-terminal broad-complex, tramtrack and bric a brac (BTB) domain that facilitates protein binding and dimerization, a BTB and C-terminal kelch (BACK) domain, and six C-terminal kelch repeat domains. Naturally occurring mutations in this gene are associated with chronic lymphocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit spleen hypoplasia, defects in mature B-cell subsets with normal pro- and pre-B-cell development, severely impaired antigen-dependent germinal center formation, and reduced memory IgG response. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bag6 |
T |
C |
17: 35,365,868 (GRCm39) |
Y1102H |
probably damaging |
Het |
| Cldn24 |
G |
A |
8: 48,275,740 (GRCm39) |
C188Y |
probably damaging |
Het |
| Dennd4c |
T |
C |
4: 86,713,377 (GRCm39) |
W443R |
probably damaging |
Het |
| Dmxl1 |
T |
A |
18: 50,088,938 (GRCm39) |
C2806S |
probably benign |
Het |
| Epb41l2 |
T |
C |
10: 25,355,036 (GRCm39) |
Y449H |
probably damaging |
Het |
| Ets1 |
T |
A |
9: 32,607,720 (GRCm39) |
I14N |
probably benign |
Het |
| F11 |
A |
T |
8: 45,703,127 (GRCm39) |
F188I |
probably damaging |
Het |
| Fam13a |
C |
T |
6: 58,912,692 (GRCm39) |
V654I |
probably benign |
Het |
| Flt1 |
C |
T |
5: 147,613,135 (GRCm39) |
V369I |
probably benign |
Het |
| Focad |
T |
A |
4: 88,096,370 (GRCm39) |
Y251N |
probably damaging |
Het |
| Gm5150 |
A |
G |
3: 16,017,747 (GRCm39) |
S175P |
probably benign |
Het |
| Hnrnpul2 |
T |
A |
19: 8,797,994 (GRCm39) |
S117T |
probably benign |
Het |
| Kcnj5 |
A |
G |
9: 32,234,264 (GRCm39) |
V17A |
probably benign |
Het |
| Kctd1 |
T |
G |
18: 15,107,255 (GRCm39) |
T737P |
probably benign |
Het |
| Kif14 |
T |
C |
1: 136,422,392 (GRCm39) |
V894A |
probably damaging |
Het |
| Klhl12 |
A |
T |
1: 134,416,768 (GRCm39) |
T497S |
probably benign |
Het |
| Lama1 |
A |
T |
17: 68,068,623 (GRCm39) |
D774V |
|
Het |
| Leng1 |
G |
A |
7: 3,665,809 (GRCm39) |
P176L |
probably benign |
Het |
| Lig1 |
T |
C |
7: 13,023,389 (GRCm39) |
L196P |
probably benign |
Het |
| Macrod1 |
C |
A |
19: 7,174,230 (GRCm39) |
Y245* |
probably null |
Het |
| Mcf2l |
T |
A |
8: 12,998,130 (GRCm39) |
I6N |
possibly damaging |
Het |
| Megf11 |
A |
G |
9: 64,599,146 (GRCm39) |
D687G |
possibly damaging |
Het |
| Muc4 |
A |
T |
16: 32,570,278 (GRCm39) |
H446L |
possibly damaging |
Het |
| Oasl2 |
A |
T |
5: 115,035,909 (GRCm39) |
I62F |
probably benign |
Het |
| Oog4 |
CAA |
CA |
4: 143,164,022 (GRCm39) |
|
probably null |
Het |
| Or14a257 |
A |
G |
7: 86,138,183 (GRCm39) |
V192A |
probably benign |
Het |
| Or4b12 |
A |
T |
2: 90,095,959 (GRCm39) |
F272I |
probably damaging |
Het |
| Or52e8 |
C |
A |
7: 104,624,332 (GRCm39) |
A291S |
possibly damaging |
Het |
| Pdcl2 |
T |
C |
5: 76,465,770 (GRCm39) |
N150S |
probably benign |
Het |
| Pfkfb3 |
A |
G |
2: 11,497,450 (GRCm39) |
Y54H |
probably damaging |
Het |
| Rab25 |
A |
T |
3: 88,452,270 (GRCm39) |
|
probably null |
Het |
| Slc22a18 |
G |
A |
7: 143,033,560 (GRCm39) |
G104S |
probably damaging |
Het |
| Slc44a5 |
T |
A |
3: 153,679,437 (GRCm39) |
|
probably null |
Het |
| Slc5a8 |
A |
G |
10: 88,757,561 (GRCm39) |
Y517C |
probably damaging |
Het |
| Spata18 |
A |
G |
5: 73,809,005 (GRCm39) |
N26S |
probably benign |
Het |
| Tas2r115 |
T |
A |
6: 132,714,643 (GRCm39) |
S103C |
probably damaging |
Het |
| Tigd2 |
T |
A |
6: 59,187,382 (GRCm39) |
M83K |
probably damaging |
Het |
| Tnxb |
T |
A |
17: 34,890,880 (GRCm39) |
C408S |
probably benign |
Het |
| Trbj2-3 |
T |
A |
6: 41,520,159 (GRCm39) |
S1R |
possibly damaging |
Het |
| Triobp |
T |
C |
15: 78,845,311 (GRCm39) |
|
probably null |
Het |
| Uaca |
A |
G |
9: 60,781,409 (GRCm39) |
Q1349R |
probably benign |
Het |
| Ube2j2 |
T |
A |
4: 156,040,885 (GRCm39) |
L171I |
probably damaging |
Het |
| Usp17ld |
C |
A |
7: 102,899,982 (GRCm39) |
G317W |
probably damaging |
Het |
| Vinac1 |
G |
A |
2: 128,880,964 (GRCm39) |
Q321* |
probably null |
Het |
| Vmn2r72 |
T |
A |
7: 85,404,098 (GRCm39) |
D31V |
probably benign |
Het |
| Zfp317 |
T |
G |
9: 19,559,251 (GRCm39) |
H488Q |
probably damaging |
Het |
|
| Other mutations in Klhl6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00788:Klhl6
|
APN |
16 |
19,775,812 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01465:Klhl6
|
APN |
16 |
19,801,572 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01831:Klhl6
|
APN |
16 |
19,772,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01971:Klhl6
|
APN |
16 |
19,768,276 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02532:Klhl6
|
APN |
16 |
19,775,832 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL03113:Klhl6
|
APN |
16 |
19,776,001 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL03290:Klhl6
|
APN |
16 |
19,765,887 (GRCm39) |
missense |
probably benign |
0.44 |
|
Ascension
|
UTSW |
16 |
19,765,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
besmirched
|
UTSW |
16 |
19,768,197 (GRCm39) |
splice site |
probably null |
|
|
blau
|
UTSW |
16 |
19,775,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
blossom
|
UTSW |
16 |
19,775,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Breech
|
UTSW |
16 |
19,766,984 (GRCm39) |
missense |
probably benign |
0.43 |
|
cerulean
|
UTSW |
16 |
19,775,968 (GRCm39) |
nonsense |
probably null |
|
|
cobalt
|
UTSW |
16 |
19,775,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
grossbeak
|
UTSW |
16 |
19,768,201 (GRCm39) |
missense |
probably null |
1.00 |
|
heights
|
UTSW |
16 |
19,775,778 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Lazuli
|
UTSW |
16 |
19,775,716 (GRCm39) |
frame shift |
probably null |
|
|
Parula
|
UTSW |
16 |
19,775,793 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
sideways
|
UTSW |
16 |
19,776,018 (GRCm39) |
missense |
probably damaging |
0.99 |
|
torres_del_paine
|
UTSW |
16 |
19,766,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
turquoise
|
UTSW |
16 |
19,801,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03046:Klhl6
|
UTSW |
16 |
19,801,639 (GRCm39) |
missense |
probably benign |
|
|
R0265:Klhl6
|
UTSW |
16 |
19,766,984 (GRCm39) |
missense |
probably benign |
0.43 |
|
R0496:Klhl6
|
UTSW |
16 |
19,775,716 (GRCm39) |
frame shift |
probably null |
|
|
R0497:Klhl6
|
UTSW |
16 |
19,775,716 (GRCm39) |
frame shift |
probably null |
|
|
R0540:Klhl6
|
UTSW |
16 |
19,775,764 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0541:Klhl6
|
UTSW |
16 |
19,768,197 (GRCm39) |
splice site |
probably null |
|
|
R0554:Klhl6
|
UTSW |
16 |
19,772,343 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0607:Klhl6
|
UTSW |
16 |
19,775,764 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0636:Klhl6
|
UTSW |
16 |
19,766,823 (GRCm39) |
splice site |
probably benign |
|
|
R0670:Klhl6
|
UTSW |
16 |
19,768,309 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1477:Klhl6
|
UTSW |
16 |
19,784,727 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1510:Klhl6
|
UTSW |
16 |
19,765,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1547:Klhl6
|
UTSW |
16 |
19,784,832 (GRCm39) |
missense |
probably benign |
|
|
R1747:Klhl6
|
UTSW |
16 |
19,765,778 (GRCm39) |
missense |
probably benign |
0.40 |
|
R1871:Klhl6
|
UTSW |
16 |
19,775,793 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R1966:Klhl6
|
UTSW |
16 |
19,801,572 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2058:Klhl6
|
UTSW |
16 |
19,801,681 (GRCm39) |
missense |
probably benign |
|
|
R4466:Klhl6
|
UTSW |
16 |
19,776,018 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4645:Klhl6
|
UTSW |
16 |
19,765,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4690:Klhl6
|
UTSW |
16 |
19,776,034 (GRCm39) |
missense |
probably benign |
0.44 |
|
R4824:Klhl6
|
UTSW |
16 |
19,775,778 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4833:Klhl6
|
UTSW |
16 |
19,775,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4835:Klhl6
|
UTSW |
16 |
19,775,783 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5001:Klhl6
|
UTSW |
16 |
19,765,741 (GRCm39) |
makesense |
probably null |
|
|
R5475:Klhl6
|
UTSW |
16 |
19,766,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5700:Klhl6
|
UTSW |
16 |
19,775,968 (GRCm39) |
nonsense |
probably null |
|
|
R5867:Klhl6
|
UTSW |
16 |
19,801,570 (GRCm39) |
missense |
probably benign |
0.37 |
|
R5910:Klhl6
|
UTSW |
16 |
19,775,844 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6992:Klhl6
|
UTSW |
16 |
19,772,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7082:Klhl6
|
UTSW |
16 |
19,801,633 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7262:Klhl6
|
UTSW |
16 |
19,801,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7314:Klhl6
|
UTSW |
16 |
19,775,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7464:Klhl6
|
UTSW |
16 |
19,775,863 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R7957:Klhl6
|
UTSW |
16 |
19,768,201 (GRCm39) |
missense |
probably null |
1.00 |
|
R8319:Klhl6
|
UTSW |
16 |
19,775,940 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R8460:Klhl6
|
UTSW |
16 |
19,775,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8853:Klhl6
|
UTSW |
16 |
19,765,979 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R9046:Klhl6
|
UTSW |
16 |
19,765,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9160:Klhl6
|
UTSW |
16 |
19,775,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Klhl6
|
UTSW |
16 |
19,772,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Klhl6
|
UTSW |
16 |
19,801,711 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TATGGCTCACAAGGAACGAC -3'
(R):5'- CAGAAAGATGACCAGCATGC -3'
Sequencing Primer
(F):5'- CGACGTGGGCAAGCTAG -3'
(R):5'- GATGACCAGCATGCATGTTC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation