Incidental Mutation 'R9046:Klhl6'
ID |
688071 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Klhl6
|
Ensembl Gene |
ENSMUSG00000043008 |
Gene Name |
kelch-like 6 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.086)
|
Stock # |
R9046 (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 19765803 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Phenylalanine
at position 600
(V600F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000053023
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058839]
|
AlphaFold |
Q6V595 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000058839
AA Change: V600F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000053023 Gene: ENSMUSG00000043008 AA Change: V600F
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 |
0.6680 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
Validation Efficiency |
99% (66/67) |
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
C |
11: 9,243,525 (GRCm39) |
V1796A |
probably benign |
Het |
Abca3 |
A |
G |
17: 24,617,477 (GRCm39) |
D1058G |
probably damaging |
Het |
Adgrg6 |
A |
G |
10: 14,323,858 (GRCm39) |
V431A |
probably benign |
Het |
Amdhd1 |
C |
T |
10: 93,363,087 (GRCm39) |
D334N |
probably damaging |
Het |
Ankrd50 |
A |
T |
3: 38,506,642 (GRCm39) |
M252K |
probably benign |
Het |
Anxa3 |
G |
A |
5: 96,976,626 (GRCm39) |
R204Q |
probably damaging |
Het |
Apmap |
T |
C |
2: 150,426,093 (GRCm39) |
T352A |
probably benign |
Het |
Arhgef4 |
A |
G |
1: 34,850,846 (GRCm39) |
E464G |
possibly damaging |
Het |
Atp11b |
T |
A |
3: 35,852,740 (GRCm39) |
|
probably benign |
Het |
Brwd1 |
T |
A |
16: 95,829,402 (GRCm39) |
S1100C |
probably damaging |
Het |
Ccm2l |
T |
A |
2: 152,916,720 (GRCm39) |
I317N |
probably damaging |
Het |
Ccr9 |
C |
T |
9: 123,608,831 (GRCm39) |
T171I |
probably benign |
Het |
Cdh23 |
A |
T |
10: 60,218,303 (GRCm39) |
|
probably benign |
Het |
Dact1 |
A |
G |
12: 71,365,534 (GRCm39) |
I735V |
probably benign |
Het |
Dok6 |
C |
A |
18: 89,787,221 (GRCm39) |
V14L |
probably benign |
Het |
Dthd1 |
A |
T |
5: 62,984,603 (GRCm39) |
Y436F |
possibly damaging |
Het |
Fndc9 |
G |
T |
11: 46,128,889 (GRCm39) |
W136L |
probably damaging |
Het |
Gal3st1 |
G |
A |
11: 3,948,278 (GRCm39) |
V162I |
probably benign |
Het |
Gart |
A |
G |
16: 91,418,561 (GRCm39) |
S973P |
probably damaging |
Het |
H2-T5 |
A |
T |
17: 36,476,035 (GRCm39) |
|
probably null |
Het |
Hsp90ab1 |
G |
A |
17: 45,879,969 (GRCm39) |
P516S |
probably damaging |
Het |
Htr1a |
G |
C |
13: 105,581,816 (GRCm39) |
G352A |
probably damaging |
Het |
Hycc2 |
T |
C |
1: 58,568,945 (GRCm39) |
T545A |
probably damaging |
Het |
Isg20 |
A |
T |
7: 78,569,823 (GRCm39) |
R265* |
probably null |
Het |
Kcmf1 |
C |
T |
6: 72,825,455 (GRCm39) |
A213T |
probably damaging |
Het |
Kdm3a |
A |
G |
6: 71,572,540 (GRCm39) |
V1007A |
probably damaging |
Het |
Klhl25 |
A |
G |
7: 75,515,337 (GRCm39) |
E81G |
probably damaging |
Het |
Kmt2b |
A |
G |
7: 30,285,479 (GRCm39) |
V471A |
probably benign |
Het |
Lap3 |
A |
G |
5: 45,652,562 (GRCm39) |
T53A |
probably damaging |
Het |
Lmntd1 |
A |
T |
6: 145,365,565 (GRCm39) |
I188N |
probably damaging |
Het |
Lrba |
A |
G |
3: 86,302,543 (GRCm39) |
I1868V |
possibly damaging |
Het |
Mef2d |
A |
T |
3: 88,074,825 (GRCm39) |
Y337F |
probably benign |
Het |
Mgat4e |
T |
C |
1: 134,474,742 (GRCm39) |
T7A |
possibly damaging |
Het |
Myo3a |
G |
T |
2: 22,448,367 (GRCm39) |
L985F |
probably damaging |
Het |
Myof |
T |
C |
19: 37,923,112 (GRCm39) |
|
probably benign |
Het |
Ncapg2 |
G |
A |
12: 116,376,145 (GRCm39) |
G77S |
probably benign |
Het |
Nostrin |
G |
T |
2: 68,975,123 (GRCm39) |
V13L |
probably benign |
Het |
Nup155 |
TGGG |
TGG |
15: 8,157,919 (GRCm39) |
|
probably null |
Het |
Or14j6 |
A |
G |
17: 38,215,145 (GRCm39) |
K236R |
probably damaging |
Het |
Or3a10 |
T |
C |
11: 73,935,284 (GRCm39) |
D272G |
probably damaging |
Het |
Or4a75 |
C |
T |
2: 89,448,496 (GRCm39) |
|
probably benign |
Het |
Or5b101 |
T |
C |
19: 13,005,115 (GRCm39) |
N193D |
probably benign |
Het |
Parp4 |
A |
C |
14: 56,864,927 (GRCm39) |
K1025T |
probably damaging |
Het |
Parvb |
T |
C |
15: 84,174,639 (GRCm39) |
I144T |
probably benign |
Het |
Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
Phf10 |
A |
G |
17: 15,175,160 (GRCm39) |
V195A |
probably damaging |
Het |
Prpf18 |
A |
T |
2: 4,640,464 (GRCm39) |
M257K |
possibly damaging |
Het |
Ptcd3 |
A |
T |
6: 71,870,364 (GRCm39) |
|
probably null |
Het |
Ptprt |
G |
A |
2: 161,372,361 (GRCm39) |
T1437M |
possibly damaging |
Het |
Ptx3 |
T |
C |
3: 66,132,153 (GRCm39) |
F225L |
probably damaging |
Het |
Rpl3l |
A |
G |
17: 24,947,435 (GRCm39) |
K50E |
probably damaging |
Het |
Rubcn |
T |
C |
16: 32,661,940 (GRCm39) |
N427D |
probably benign |
Het |
Serpinb8 |
G |
A |
1: 107,530,563 (GRCm39) |
A114T |
possibly damaging |
Het |
Sgsm1 |
A |
G |
5: 113,436,725 (GRCm39) |
V35A |
probably damaging |
Het |
Slc22a2 |
G |
A |
17: 12,834,234 (GRCm39) |
A501T |
probably null |
Het |
Slu7 |
G |
A |
11: 43,335,629 (GRCm39) |
C455Y |
probably damaging |
Het |
Src |
C |
A |
2: 157,307,795 (GRCm39) |
H235N |
probably damaging |
Het |
Svopl |
T |
A |
6: 37,998,531 (GRCm39) |
M248L |
probably benign |
Het |
Tbx6 |
G |
A |
7: 126,381,120 (GRCm39) |
|
probably null |
Het |
Tprg1l |
A |
T |
4: 154,242,913 (GRCm39) |
I239N |
probably damaging |
Het |
Trafd1 |
A |
G |
5: 121,513,189 (GRCm39) |
F350L |
probably benign |
Het |
Trpv3 |
A |
G |
11: 73,176,698 (GRCm39) |
Y359C |
probably damaging |
Het |
Vmn1r46 |
T |
C |
6: 89,953,585 (GRCm39) |
S145P |
probably damaging |
Het |
Vmn2r11 |
A |
T |
5: 109,202,850 (GRCm39) |
F76I |
probably benign |
Het |
Xpot |
A |
T |
10: 121,432,149 (GRCm39) |
C916* |
probably null |
Het |
Zfp236 |
C |
T |
18: 82,637,042 (GRCm39) |
E1415K |
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 |
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 |
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 |
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'- TCTTCCTAGGTGCCCCATGATG -3'
(R):5'- TGCCATGAGAGCACTCTACG -3'
Sequencing Primer
(F):5'- TAGGTGCCCCATGATGAACCTTAAG -3'
(R):5'- GCTTATAGCCCTCTGGAAGACAG -3'
|
Posted On |
2021-11-19 |