Incidental Mutation 'R4645:Klhl6'
| ID |
350191 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klhl6
|
| Ensembl Gene |
ENSMUSG00000043008 |
| Gene Name |
kelch-like 6 |
| Synonyms |
|
| MMRRC Submission |
041906-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R4645 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
19946496-19983037 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 19947147 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 568
(N568K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053023
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058839]
|
| AlphaFold |
Q6V595 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000058839
AA Change: N568K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000053023
Gene: ENSMUSG00000043008
AA Change: N568K
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
98% (53/54) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
T |
C |
17: 46,324,774 (GRCm38) |
E101G |
probably damaging |
Het |
| Adgrf5 |
A |
G |
17: 43,437,525 (GRCm38) |
E29G |
probably damaging |
Het |
| Agfg2 |
T |
A |
5: 137,684,592 (GRCm38) |
|
probably benign |
Het |
| Ap4b1 |
A |
G |
3: 103,821,449 (GRCm38) |
S468G |
probably benign |
Het |
| AY702103 |
G |
T |
17: 50,239,913 (GRCm38) |
|
noncoding transcript |
Het |
| Ccdc14 |
T |
C |
16: 34,721,740 (GRCm38) |
L536S |
probably damaging |
Het |
| Ccr9 |
G |
T |
9: 123,779,593 (GRCm38) |
M101I |
probably benign |
Het |
| Celsr1 |
A |
T |
15: 85,916,756 (GRCm38) |
V2496E |
probably benign |
Het |
| Celsr2 |
C |
A |
3: 108,395,969 (GRCm38) |
G2486V |
probably damaging |
Het |
| Cntnap3 |
A |
G |
13: 64,778,788 (GRCm38) |
|
probably null |
Het |
| Erlin1 |
T |
C |
19: 44,069,320 (GRCm38) |
Y22C |
probably damaging |
Het |
| Fam135b |
T |
C |
15: 71,462,340 (GRCm38) |
T1002A |
probably benign |
Het |
| Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,430,958 (GRCm38) |
|
probably benign |
Het |
| Glud1 |
T |
C |
14: 34,311,106 (GRCm38) |
V70A |
probably damaging |
Het |
| Hdlbp |
A |
G |
1: 93,422,120 (GRCm38) |
|
probably benign |
Het |
| Immt |
T |
C |
6: 71,856,939 (GRCm38) |
L184P |
probably damaging |
Het |
| Iqsec1 |
T |
G |
6: 90,668,013 (GRCm38) |
K983T |
probably damaging |
Het |
| Lbhd1 |
T |
G |
19: 8,884,088 (GRCm38) |
|
probably benign |
Het |
| Lrit2 |
C |
T |
14: 37,072,475 (GRCm38) |
R499C |
probably benign |
Het |
| Lrp6 |
T |
C |
6: 134,484,250 (GRCm38) |
D748G |
probably damaging |
Het |
| Lrriq4 |
A |
G |
3: 30,650,743 (GRCm38) |
K292E |
probably benign |
Het |
| Ly96 |
G |
T |
1: 16,691,716 (GRCm38) |
E49* |
probably null |
Het |
| Lztr1 |
C |
T |
16: 17,524,091 (GRCm38) |
|
probably benign |
Het |
| Mmp12 |
A |
G |
9: 7,347,515 (GRCm38) |
M31V |
probably benign |
Het |
| Mok |
A |
T |
12: 110,808,439 (GRCm38) |
|
probably benign |
Het |
| Mpi |
T |
C |
9: 57,550,757 (GRCm38) |
H54R |
probably damaging |
Het |
| Naip5 |
T |
A |
13: 100,219,830 (GRCm38) |
E1092D |
probably benign |
Het |
| Olfr1188 |
T |
C |
2: 88,560,378 (GRCm38) |
I292T |
probably damaging |
Het |
| Pomt1 |
G |
T |
2: 32,242,876 (GRCm38) |
|
probably benign |
Het |
| Ptpn20 |
G |
A |
14: 33,631,212 (GRCm38) |
V303I |
probably benign |
Het |
| Pyroxd1 |
C |
G |
6: 142,354,741 (GRCm38) |
S199* |
probably null |
Het |
| Shank2 |
A |
G |
7: 144,410,422 (GRCm38) |
K799R |
possibly damaging |
Het |
| Sim1 |
A |
T |
10: 50,983,997 (GRCm38) |
T652S |
probably benign |
Het |
| Slc8a2 |
C |
T |
7: 16,134,239 (GRCm38) |
T132I |
probably damaging |
Het |
| Spaca6 |
A |
T |
17: 17,836,045 (GRCm38) |
|
probably benign |
Het |
| Sympk |
G |
T |
7: 19,043,460 (GRCm38) |
R545L |
possibly damaging |
Het |
| Tenm4 |
G |
T |
7: 96,895,742 (GRCm38) |
G2322W |
probably damaging |
Het |
| Thap1 |
A |
G |
8: 26,162,569 (GRCm38) |
T135A |
probably damaging |
Het |
| Traf3 |
T |
C |
12: 111,261,966 (GRCm38) |
V537A |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,748,336 (GRCm38) |
D24071G |
probably damaging |
Het |
| Tysnd1 |
G |
T |
10: 61,696,183 (GRCm38) |
V205L |
probably benign |
Het |
| Unc79 |
T |
C |
12: 103,112,822 (GRCm38) |
S1749P |
probably benign |
Het |
| Vmn2r50 |
T |
A |
7: 10,037,235 (GRCm38) |
*846C |
probably null |
Het |
| Vmn2r74 |
C |
T |
7: 85,957,109 (GRCm38) |
S343N |
probably benign |
Het |
| Zfyve28 |
T |
G |
5: 34,222,443 (GRCm38) |
|
probably benign |
Het |
| Zmym2 |
T |
C |
14: 56,928,307 (GRCm38) |
S696P |
probably damaging |
Het |
| Zscan4e |
T |
C |
7: 11,307,075 (GRCm38) |
Y290C |
possibly damaging |
Het |
| Zswim2 |
G |
T |
2: 83,915,547 (GRCm38) |
H516N |
probably benign |
Het |
|
| Other mutations in Klhl6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00788:Klhl6
|
APN |
16 |
19,957,062 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01465:Klhl6
|
APN |
16 |
19,982,822 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL01831:Klhl6
|
APN |
16 |
19,953,485 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01971:Klhl6
|
APN |
16 |
19,949,526 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02532:Klhl6
|
APN |
16 |
19,957,082 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
IGL03113:Klhl6
|
APN |
16 |
19,957,251 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
IGL03290:Klhl6
|
APN |
16 |
19,947,137 (GRCm38) |
missense |
probably benign |
0.44 |
|
Ascension
|
UTSW |
16 |
19,947,098 (GRCm38) |
missense |
probably damaging |
1.00 |
|
besmirched
|
UTSW |
16 |
19,949,447 (GRCm38) |
splice site |
probably null |
|
|
blau
|
UTSW |
16 |
19,957,005 (GRCm38) |
missense |
probably damaging |
1.00 |
|
blossom
|
UTSW |
16 |
19,957,139 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Breech
|
UTSW |
16 |
19,948,234 (GRCm38) |
missense |
probably benign |
0.43 |
|
cerulean
|
UTSW |
16 |
19,957,218 (GRCm38) |
nonsense |
probably null |
|
|
cobalt
|
UTSW |
16 |
19,957,022 (GRCm38) |
missense |
probably damaging |
1.00 |
|
grossbeak
|
UTSW |
16 |
19,949,451 (GRCm38) |
missense |
probably null |
1.00 |
|
heights
|
UTSW |
16 |
19,957,028 (GRCm38) |
missense |
probably damaging |
0.98 |
|
Lazuli
|
UTSW |
16 |
19,956,966 (GRCm38) |
frame shift |
probably null |
|
|
Parula
|
UTSW |
16 |
19,957,043 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
sideways
|
UTSW |
16 |
19,957,268 (GRCm38) |
missense |
probably damaging |
0.99 |
|
torres_del_paine
|
UTSW |
16 |
19,948,127 (GRCm38) |
missense |
probably damaging |
1.00 |
|
turquoise
|
UTSW |
16 |
19,982,796 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03046:Klhl6
|
UTSW |
16 |
19,982,889 (GRCm38) |
missense |
probably benign |
|
|
R0265:Klhl6
|
UTSW |
16 |
19,948,234 (GRCm38) |
missense |
probably benign |
0.43 |
|
R0496:Klhl6
|
UTSW |
16 |
19,956,966 (GRCm38) |
frame shift |
probably null |
|
|
R0497:Klhl6
|
UTSW |
16 |
19,956,966 (GRCm38) |
frame shift |
probably null |
|
|
R0540:Klhl6
|
UTSW |
16 |
19,957,014 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R0541:Klhl6
|
UTSW |
16 |
19,949,447 (GRCm38) |
splice site |
probably null |
|
|
R0554:Klhl6
|
UTSW |
16 |
19,953,593 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R0607:Klhl6
|
UTSW |
16 |
19,957,014 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R0636:Klhl6
|
UTSW |
16 |
19,948,073 (GRCm38) |
splice site |
probably benign |
|
|
R0670:Klhl6
|
UTSW |
16 |
19,949,559 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R1477:Klhl6
|
UTSW |
16 |
19,965,977 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1510:Klhl6
|
UTSW |
16 |
19,947,098 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1547:Klhl6
|
UTSW |
16 |
19,966,082 (GRCm38) |
missense |
probably benign |
|
|
R1747:Klhl6
|
UTSW |
16 |
19,947,028 (GRCm38) |
missense |
probably benign |
0.40 |
|
R1871:Klhl6
|
UTSW |
16 |
19,957,043 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R1966:Klhl6
|
UTSW |
16 |
19,982,822 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2058:Klhl6
|
UTSW |
16 |
19,982,931 (GRCm38) |
missense |
probably benign |
|
|
R4466:Klhl6
|
UTSW |
16 |
19,957,268 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4690:Klhl6
|
UTSW |
16 |
19,957,284 (GRCm38) |
missense |
probably benign |
0.44 |
|
R4824:Klhl6
|
UTSW |
16 |
19,957,028 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4833:Klhl6
|
UTSW |
16 |
19,957,139 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4835:Klhl6
|
UTSW |
16 |
19,957,033 (GRCm38) |
missense |
probably benign |
0.07 |
|
R5001:Klhl6
|
UTSW |
16 |
19,946,991 (GRCm38) |
makesense |
probably null |
|
|
R5475:Klhl6
|
UTSW |
16 |
19,948,127 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5700:Klhl6
|
UTSW |
16 |
19,957,218 (GRCm38) |
nonsense |
probably null |
|
|
R5867:Klhl6
|
UTSW |
16 |
19,982,820 (GRCm38) |
missense |
probably benign |
0.37 |
|
R5910:Klhl6
|
UTSW |
16 |
19,957,094 (GRCm38) |
missense |
probably benign |
0.04 |
|
R6992:Klhl6
|
UTSW |
16 |
19,953,587 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7082:Klhl6
|
UTSW |
16 |
19,982,883 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7262:Klhl6
|
UTSW |
16 |
19,982,796 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7314:Klhl6
|
UTSW |
16 |
19,957,005 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7464:Klhl6
|
UTSW |
16 |
19,957,113 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R7688:Klhl6
|
UTSW |
16 |
19,947,131 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7957:Klhl6
|
UTSW |
16 |
19,949,451 (GRCm38) |
missense |
probably null |
1.00 |
|
R8319:Klhl6
|
UTSW |
16 |
19,957,190 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R8460:Klhl6
|
UTSW |
16 |
19,957,031 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8853:Klhl6
|
UTSW |
16 |
19,947,229 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
R9046:Klhl6
|
UTSW |
16 |
19,947,053 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9160:Klhl6
|
UTSW |
16 |
19,957,022 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1176:Klhl6
|
UTSW |
16 |
19,953,674 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Klhl6
|
UTSW |
16 |
19,982,961 (GRCm38) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCTATGGCTCACAAGGAACGAC -3'
(R):5'- AAGATGACCAGCATGCATGTTC -3'
Sequencing Primer
(F):5'- CTAGGGTATAGGTGCTCAGAGACTCC -3'
(R):5'- AGCATGCATGTTCTTTCTTCGCAG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation