Incidental Mutation 'R0636:Klhl6'
| ID |
56716 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klhl6
|
| Ensembl Gene |
ENSMUSG00000043008 |
| Gene Name |
kelch-like 6 |
| Synonyms |
|
| MMRRC Submission |
038825-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
R0636 (G1)
|
| Quality Score |
177 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
19765242-19801766 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 19766823 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053023
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058839]
|
| AlphaFold |
Q6V595 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058839
|
| SMART Domains |
Protein: ENSMUSP00000053023
Gene: ENSMUSG00000043008
| 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 |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 95.7%
|
| Validation Efficiency |
96% (74/77) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921539E11Rik |
T |
C |
4: 103,088,414 (GRCm39) |
Y264C |
probably damaging |
Het |
| 8030423J24Rik |
T |
C |
13: 71,032,344 (GRCm39) |
F139L |
unknown |
Het |
| Aco1 |
A |
G |
4: 40,175,697 (GRCm39) |
E146G |
probably damaging |
Het |
| Adam2 |
T |
G |
14: 66,272,265 (GRCm39) |
D639A |
probably benign |
Het |
| Adh4 |
G |
T |
3: 138,133,835 (GRCm39) |
R315L |
probably damaging |
Het |
| Adprhl1 |
T |
C |
8: 13,298,702 (GRCm39) |
D76G |
probably damaging |
Het |
| Akip1 |
T |
C |
7: 109,306,726 (GRCm39) |
|
probably benign |
Het |
| Ap3d1 |
T |
A |
10: 80,555,216 (GRCm39) |
K370* |
probably null |
Het |
| Arfgef1 |
C |
A |
1: 10,270,076 (GRCm39) |
V358L |
probably benign |
Het |
| Arpp21 |
A |
T |
9: 112,012,566 (GRCm39) |
D85E |
probably benign |
Het |
| Azi2 |
A |
T |
9: 117,891,125 (GRCm39) |
L383F |
probably benign |
Het |
| Bpgm |
T |
A |
6: 34,481,222 (GRCm39) |
D206E |
probably benign |
Het |
| Bsn |
T |
C |
9: 107,985,033 (GRCm39) |
D3007G |
unknown |
Het |
| Ccdc142 |
T |
G |
6: 83,084,179 (GRCm39) |
|
probably benign |
Het |
| Cep135 |
T |
C |
5: 76,763,504 (GRCm39) |
V498A |
probably benign |
Het |
| Cntn6 |
A |
T |
6: 104,840,109 (GRCm39) |
Q1003L |
probably benign |
Het |
| Cntnap2 |
T |
A |
6: 47,273,642 (GRCm39) |
|
probably benign |
Het |
| Csf2rb2 |
G |
A |
15: 78,176,160 (GRCm39) |
Q139* |
probably null |
Het |
| Cyp3a16 |
A |
G |
5: 145,399,895 (GRCm39) |
V101A |
probably benign |
Het |
| D630045J12Rik |
T |
C |
6: 38,173,713 (GRCm39) |
T152A |
probably benign |
Het |
| Def8 |
G |
A |
8: 124,181,096 (GRCm39) |
W176* |
probably null |
Het |
| Dgkg |
A |
G |
16: 22,398,479 (GRCm39) |
|
probably benign |
Het |
| Ear10 |
T |
C |
14: 44,160,451 (GRCm39) |
|
probably null |
Het |
| Fbxw2 |
A |
T |
2: 34,712,859 (GRCm39) |
Y67* |
probably null |
Het |
| Flii |
T |
A |
11: 60,606,378 (GRCm39) |
Y1104F |
probably damaging |
Het |
| Gm973 |
G |
A |
1: 59,590,303 (GRCm39) |
R270K |
probably benign |
Het |
| Gnl3 |
T |
A |
14: 30,739,110 (GRCm39) |
K75N |
probably damaging |
Het |
| Gpc6 |
A |
T |
14: 117,861,905 (GRCm39) |
M274L |
probably benign |
Het |
| Ifi47 |
A |
G |
11: 48,987,478 (GRCm39) |
E415G |
possibly damaging |
Het |
| Ift57 |
A |
G |
16: 49,532,259 (GRCm39) |
T130A |
probably benign |
Het |
| Itpr2 |
T |
A |
6: 146,072,910 (GRCm39) |
D2373V |
probably damaging |
Het |
| Kat6a |
T |
C |
8: 23,429,339 (GRCm39) |
S1565P |
possibly damaging |
Het |
| Klra2 |
T |
C |
6: 131,197,067 (GRCm39) |
|
probably benign |
Het |
| Lama5 |
A |
G |
2: 179,831,124 (GRCm39) |
|
probably null |
Het |
| Mapk4 |
A |
G |
18: 74,063,525 (GRCm39) |
S566P |
probably benign |
Het |
| Mindy4 |
C |
A |
6: 55,253,570 (GRCm39) |
R480S |
possibly damaging |
Het |
| Mterf3 |
T |
C |
13: 67,070,817 (GRCm39) |
|
probably benign |
Het |
| Mtmr2 |
A |
G |
9: 13,713,209 (GRCm39) |
|
probably null |
Het |
| Myef2l |
T |
C |
3: 10,153,843 (GRCm39) |
L204P |
possibly damaging |
Het |
| Naip5 |
T |
C |
13: 100,356,196 (GRCm39) |
T1140A |
probably benign |
Het |
| Nf1 |
A |
G |
11: 79,426,529 (GRCm39) |
T1648A |
probably damaging |
Het |
| Nlk |
A |
T |
11: 78,586,670 (GRCm39) |
D141E |
probably benign |
Het |
| Noxa1 |
C |
A |
2: 24,976,106 (GRCm39) |
|
probably benign |
Het |
| Or4g16 |
A |
G |
2: 111,136,757 (GRCm39) |
N69S |
probably benign |
Het |
| Or5b121 |
A |
T |
19: 13,507,613 (GRCm39) |
Y236F |
possibly damaging |
Het |
| Or5p55 |
T |
C |
7: 107,566,679 (GRCm39) |
V25A |
probably benign |
Het |
| Otog |
G |
A |
7: 45,913,652 (GRCm39) |
|
probably null |
Het |
| Pebp4 |
T |
C |
14: 70,285,796 (GRCm39) |
|
probably benign |
Het |
| Phgdh |
G |
T |
3: 98,240,607 (GRCm39) |
N100K |
possibly damaging |
Het |
| Pnisr |
T |
A |
4: 21,873,800 (GRCm39) |
|
probably benign |
Het |
| Ptpn6 |
T |
C |
6: 124,702,242 (GRCm39) |
H346R |
probably benign |
Het |
| Rsf1 |
T |
C |
7: 97,311,226 (GRCm39) |
V652A |
possibly damaging |
Het |
| Rubcn |
G |
A |
16: 32,649,056 (GRCm39) |
H624Y |
probably damaging |
Het |
| Semp2l2a |
T |
C |
8: 13,887,870 (GRCm39) |
R74G |
probably benign |
Het |
| Setdb2 |
T |
C |
14: 59,644,153 (GRCm39) |
N656D |
probably benign |
Het |
| Slc22a23 |
T |
C |
13: 34,483,076 (GRCm39) |
T268A |
probably benign |
Het |
| Slc3a1 |
A |
T |
17: 85,340,222 (GRCm39) |
T215S |
possibly damaging |
Het |
| Srsf2 |
A |
G |
11: 116,742,904 (GRCm39) |
S206P |
probably benign |
Het |
| Susd2 |
T |
A |
10: 75,475,184 (GRCm39) |
D542V |
probably damaging |
Het |
| Svep1 |
G |
A |
4: 58,073,121 (GRCm39) |
Q2063* |
probably null |
Het |
| Syne2 |
G |
A |
12: 75,977,757 (GRCm39) |
V1401M |
possibly damaging |
Het |
| Tenm2 |
A |
G |
11: 36,834,803 (GRCm39) |
L64P |
probably damaging |
Het |
| Tigd2 |
A |
G |
6: 59,188,272 (GRCm39) |
T380A |
possibly damaging |
Het |
| Trmt12 |
G |
T |
15: 58,745,834 (GRCm39) |
V411F |
probably damaging |
Het |
| Ubr4 |
T |
C |
4: 139,163,613 (GRCm39) |
|
probably null |
Het |
| Ush2a |
G |
A |
1: 188,554,935 (GRCm39) |
C3571Y |
probably benign |
Het |
| Usp8 |
A |
G |
2: 126,562,030 (GRCm39) |
M75V |
possibly damaging |
Het |
| Vcan |
C |
T |
13: 89,852,825 (GRCm39) |
D712N |
probably damaging |
Het |
| Vcan |
C |
A |
13: 89,860,386 (GRCm39) |
R327L |
probably damaging |
Het |
| Vps8 |
A |
G |
16: 21,253,683 (GRCm39) |
E8G |
probably benign |
Het |
| Washc5 |
T |
C |
15: 59,231,258 (GRCm39) |
D335G |
probably benign |
Het |
| Zbtb39 |
A |
G |
10: 127,578,704 (GRCm39) |
N426S |
probably benign |
Het |
| Zfp184 |
T |
A |
13: 22,133,919 (GRCm39) |
D55E |
probably damaging |
Het |
| Zfp882 |
T |
C |
8: 72,668,181 (GRCm39) |
V336A |
probably benign |
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 |
|
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 |
|
R7688:Klhl6
|
UTSW |
16 |
19,765,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TCCAGGACTTCTAGGGAAATCCCAC -3'
(R):5'- ACAGCCAATGCACAGCTTGCTC -3'
Sequencing Primer
(F):5'- TTCTAGGGAAATCCCACCAAGG -3'
(R):5'- GAGCTTTTCCAGCAATCTGAG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation