Incidental Mutation 'R0541:Klhl6'
ID |
49941 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Klhl6
|
Ensembl Gene |
ENSMUSG00000043008 |
Gene Name |
kelch-like 6 |
Synonyms |
|
MMRRC Submission |
038733-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.072)
|
Stock # |
R0541 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
19765242-19801766 bp(-) (GRCm39) |
Type of Mutation |
splice site (3 bp from exon) |
DNA Base Change (assembly) |
T to A
at 19768197 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 null
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 |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.9%
|
Validation Efficiency |
96% (64/67) |
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933402N03Rik |
T |
C |
7: 130,740,872 (GRCm39) |
M115V |
probably benign |
Het |
4933415A04Rik |
TTGTGTGTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT |
TTGTGTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT |
11: 43,478,227 (GRCm39) |
|
probably null |
Het |
Abca7 |
C |
T |
10: 79,843,185 (GRCm39) |
A1220V |
probably benign |
Het |
Adamts19 |
G |
A |
18: 59,060,372 (GRCm39) |
|
probably null |
Het |
Agbl1 |
G |
A |
7: 76,058,993 (GRCm39) |
V194M |
probably benign |
Het |
Arhgap20 |
G |
T |
9: 51,760,963 (GRCm39) |
S902I |
probably damaging |
Het |
Atp11b |
T |
G |
3: 35,861,093 (GRCm39) |
D193E |
probably damaging |
Het |
B3gntl1 |
A |
T |
11: 121,535,430 (GRCm39) |
|
probably benign |
Het |
C2cd2 |
T |
C |
16: 97,723,496 (GRCm39) |
E7G |
possibly damaging |
Het |
Camta2 |
A |
G |
11: 70,572,447 (GRCm39) |
L259P |
probably benign |
Het |
Ccni |
T |
C |
5: 93,335,563 (GRCm39) |
N192D |
probably benign |
Het |
Cgnl1 |
A |
G |
9: 71,558,535 (GRCm39) |
I946T |
possibly damaging |
Het |
Chil3 |
T |
C |
3: 106,068,548 (GRCm39) |
|
probably null |
Het |
Cntn5 |
A |
G |
9: 9,673,407 (GRCm39) |
|
probably benign |
Het |
Cpn2 |
C |
T |
16: 30,078,169 (GRCm39) |
G511S |
possibly damaging |
Het |
Dagla |
C |
A |
19: 10,232,170 (GRCm39) |
|
probably null |
Het |
Dcc |
T |
C |
18: 71,392,086 (GRCm39) |
N1440S |
probably damaging |
Het |
Drosha |
T |
A |
15: 12,907,474 (GRCm39) |
N1069K |
probably benign |
Het |
Edc4 |
A |
G |
8: 106,616,060 (GRCm39) |
T812A |
probably benign |
Het |
Eml4 |
A |
G |
17: 83,747,471 (GRCm39) |
I238V |
probably benign |
Het |
Ep400 |
T |
C |
5: 110,852,882 (GRCm39) |
T1288A |
unknown |
Het |
Fastkd1 |
A |
C |
2: 69,532,750 (GRCm39) |
L539R |
probably damaging |
Het |
Fbln7 |
G |
A |
2: 128,719,454 (GRCm39) |
|
probably benign |
Het |
Fbxo39 |
A |
G |
11: 72,209,297 (GRCm39) |
I386V |
probably benign |
Het |
Gm17430 |
T |
C |
18: 9,726,267 (GRCm39) |
K135R |
probably damaging |
Het |
Gm3646 |
T |
A |
1: 39,843,483 (GRCm39) |
T8S |
unknown |
Het |
Gtsf1 |
A |
T |
15: 103,329,619 (GRCm39) |
V100E |
possibly damaging |
Het |
Helz2 |
A |
G |
2: 180,876,618 (GRCm39) |
F1292S |
possibly damaging |
Het |
Igf2bp3 |
G |
A |
6: 49,084,401 (GRCm39) |
|
probably benign |
Het |
Ip6k2 |
T |
G |
9: 108,681,826 (GRCm39) |
D252E |
probably damaging |
Het |
Iqck |
T |
A |
7: 118,514,817 (GRCm39) |
L232Q |
probably damaging |
Het |
Kif18b |
A |
G |
11: 102,806,001 (GRCm39) |
V186A |
probably damaging |
Het |
Lao1 |
C |
T |
4: 118,820,999 (GRCm39) |
T75I |
probably benign |
Het |
Lyst |
T |
C |
13: 13,855,878 (GRCm39) |
F2400L |
probably benign |
Het |
Map3k9 |
A |
T |
12: 81,780,997 (GRCm39) |
S388T |
possibly damaging |
Het |
Mmp11 |
G |
T |
10: 75,762,767 (GRCm39) |
H229N |
probably damaging |
Het |
Myh7 |
T |
G |
14: 55,212,158 (GRCm39) |
I1529L |
probably benign |
Het |
Nckap5 |
G |
T |
1: 126,623,459 (GRCm39) |
D11E |
possibly damaging |
Het |
Ncoa1 |
A |
T |
12: 4,373,033 (GRCm39) |
F123I |
probably damaging |
Het |
Nelfb |
A |
T |
2: 25,093,992 (GRCm39) |
D385E |
probably benign |
Het |
Obscn |
C |
T |
11: 58,972,810 (GRCm39) |
V2288M |
probably damaging |
Het |
Or2f1b |
A |
G |
6: 42,739,154 (GRCm39) |
H56R |
probably damaging |
Het |
Or4d6 |
C |
T |
19: 12,086,884 (GRCm39) |
V9M |
possibly damaging |
Het |
Or52x1 |
A |
T |
7: 104,853,367 (GRCm39) |
M61K |
probably damaging |
Het |
Or5b12b |
A |
G |
19: 12,861,458 (GRCm39) |
Y71C |
probably damaging |
Het |
Otog |
T |
A |
7: 45,918,673 (GRCm39) |
|
probably benign |
Het |
Oxa1l |
A |
G |
14: 54,605,646 (GRCm39) |
E375G |
possibly damaging |
Het |
Pan2 |
T |
A |
10: 128,144,091 (GRCm39) |
I129K |
possibly damaging |
Het |
Parp1 |
A |
G |
1: 180,426,616 (GRCm39) |
I919M |
probably benign |
Het |
Pnpla7 |
T |
C |
2: 24,885,305 (GRCm39) |
Y174H |
probably damaging |
Het |
Polr3b |
T |
C |
10: 84,473,928 (GRCm39) |
F169S |
probably damaging |
Het |
Rab10 |
T |
C |
12: 3,314,743 (GRCm39) |
D45G |
probably damaging |
Het |
Reln |
A |
G |
5: 22,185,107 (GRCm39) |
S1537P |
possibly damaging |
Het |
Sema6d |
T |
A |
2: 124,507,197 (GRCm39) |
S1045T |
probably benign |
Het |
Setd2 |
T |
C |
9: 110,402,741 (GRCm39) |
V1794A |
probably damaging |
Het |
Spidr |
T |
A |
16: 15,733,229 (GRCm39) |
I589F |
probably damaging |
Het |
Stmn4 |
A |
C |
14: 66,595,388 (GRCm39) |
I165L |
probably benign |
Het |
Stx5a |
T |
C |
19: 8,727,301 (GRCm39) |
M177T |
probably damaging |
Het |
Tll1 |
T |
C |
8: 64,491,486 (GRCm39) |
|
probably null |
Het |
Tmem192 |
T |
C |
8: 65,416,912 (GRCm39) |
Y168H |
probably damaging |
Het |
Ttc21a |
C |
T |
9: 119,785,892 (GRCm39) |
|
probably benign |
Het |
Ush2a |
A |
G |
1: 188,446,663 (GRCm39) |
|
probably benign |
Het |
Vezf1 |
A |
G |
11: 87,972,403 (GRCm39) |
M255V |
possibly damaging |
Het |
Vmn2r25 |
A |
G |
6: 123,816,786 (GRCm39) |
F265S |
probably damaging |
Het |
Vps13a |
A |
G |
19: 16,681,941 (GRCm39) |
S1021P |
probably benign |
Het |
Wfdc16 |
T |
C |
2: 164,477,773 (GRCm39) |
E92G |
possibly damaging |
Het |
Zkscan2 |
T |
C |
7: 123,079,423 (GRCm39) |
T845A |
possibly 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 |
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 |
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'- AGCATCTGAGGAGACAGACTCAGC -3'
(R):5'- CTTGTAGGTGGCAAAGAAACACAGC -3'
Sequencing Primer
(F):5'- GCTAAACCATCTTAGGGATAGGCTC -3'
(R):5'- GTTTGGAAGTACAATTCCTCCATC -3'
|
Posted On |
2013-06-12 |