Incidental Mutation 'IGL03113:Klhl6'
| ID |
419282 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Klhl6
|
| Ensembl Gene |
ENSMUSG00000043008 |
| Gene Name |
kelch-like 6 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
IGL03113
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
19765242-19801766 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 19776001 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Cysteine
at position 186
(S186C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053023
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058839]
[ENSMUST00000166801]
|
| AlphaFold |
Q6V595 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000058839
AA Change: S186C
PolyPhen 2
Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000053023
Gene: ENSMUSG00000043008
AA Change: S186C
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166801
|
| SMART Domains |
Protein: ENSMUSP00000130755
Gene: ENSMUSG00000043008
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BTB
|
60 |
98 |
1.2e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171910
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apof |
G |
A |
10: 128,105,568 (GRCm39) |
V241M |
probably benign |
Het |
| Arhgef10 |
T |
A |
8: 15,004,505 (GRCm39) |
I91N |
probably damaging |
Het |
| Arhgef17 |
G |
A |
7: 100,578,938 (GRCm39) |
T670I |
probably benign |
Het |
| Barhl1 |
T |
C |
2: 28,805,468 (GRCm39) |
D75G |
probably benign |
Het |
| Capn13 |
T |
C |
17: 73,638,108 (GRCm39) |
T432A |
probably benign |
Het |
| Casd1 |
T |
A |
6: 4,640,951 (GRCm39) |
Y691N |
probably damaging |
Het |
| Ccdc175 |
C |
A |
12: 72,191,557 (GRCm39) |
V340L |
probably benign |
Het |
| Cdc5l |
A |
T |
17: 45,744,348 (GRCm39) |
M5K |
possibly damaging |
Het |
| Cgn |
A |
G |
3: 94,686,544 (GRCm39) |
F253L |
probably benign |
Het |
| Csmd1 |
T |
C |
8: 16,078,712 (GRCm39) |
K2003R |
probably benign |
Het |
| Disp2 |
T |
A |
2: 118,621,259 (GRCm39) |
|
probably null |
Het |
| Dnah7a |
T |
C |
1: 53,472,163 (GRCm39) |
N3535D |
possibly damaging |
Het |
| Exoc3 |
G |
A |
13: 74,341,232 (GRCm39) |
Q191* |
probably null |
Het |
| Fstl5 |
T |
A |
3: 76,337,099 (GRCm39) |
Y219* |
probably null |
Het |
| Gad2 |
T |
A |
2: 22,571,367 (GRCm39) |
L435Q |
probably benign |
Het |
| Gcnt3 |
A |
G |
9: 69,941,983 (GRCm39) |
V195A |
probably damaging |
Het |
| Haus6 |
G |
A |
4: 86,501,343 (GRCm39) |
Q843* |
probably null |
Het |
| Hivep2 |
T |
A |
10: 14,006,395 (GRCm39) |
F998I |
probably damaging |
Het |
| Hsf5 |
A |
T |
11: 87,548,190 (GRCm39) |
E624D |
probably benign |
Het |
| Klb |
A |
G |
5: 65,540,813 (GRCm39) |
N969D |
probably benign |
Het |
| Klk15 |
T |
C |
7: 43,587,805 (GRCm39) |
F78L |
probably benign |
Het |
| Ldlr |
A |
G |
9: 21,651,124 (GRCm39) |
E514G |
possibly damaging |
Het |
| Map9 |
T |
A |
3: 82,267,285 (GRCm39) |
|
probably benign |
Het |
| Miga2 |
A |
T |
2: 30,274,022 (GRCm39) |
I99F |
possibly damaging |
Het |
| Morc4 |
T |
C |
X: 138,758,605 (GRCm39) |
E189G |
probably benign |
Het |
| Nhlrc3 |
A |
T |
3: 53,365,984 (GRCm39) |
Y170N |
possibly damaging |
Het |
| Or3a1b |
G |
A |
11: 74,012,529 (GRCm39) |
R138Q |
probably benign |
Het |
| Or4c111 |
A |
G |
2: 88,844,379 (GRCm39) |
F10L |
probably damaging |
Het |
| Or51b6b |
A |
T |
7: 103,309,851 (GRCm39) |
V202D |
possibly damaging |
Het |
| Or52u1 |
A |
T |
7: 104,237,940 (GRCm39) |
R310W |
probably benign |
Het |
| Or5o1 |
T |
A |
X: 48,815,939 (GRCm39) |
N291Y |
probably damaging |
Het |
| Or5w15 |
T |
C |
2: 87,568,506 (GRCm39) |
Q54R |
probably benign |
Het |
| Or8g32 |
A |
C |
9: 39,305,981 (GRCm39) |
K295T |
probably damaging |
Het |
| Pkd1l1 |
G |
A |
11: 8,784,793 (GRCm39) |
T1997I |
probably benign |
Het |
| Poln |
A |
G |
5: 34,274,206 (GRCm39) |
S377P |
probably benign |
Het |
| Rab22a |
T |
A |
2: 173,503,265 (GRCm39) |
V26E |
probably damaging |
Het |
| Rhbdl3 |
T |
C |
11: 80,244,439 (GRCm39) |
V382A |
possibly damaging |
Het |
| Slitrk3 |
G |
T |
3: 72,957,723 (GRCm39) |
Q350K |
probably benign |
Het |
| Sult1d1 |
A |
T |
5: 87,707,738 (GRCm39) |
Y127* |
probably null |
Het |
| Vmn1r73 |
A |
T |
7: 11,490,527 (GRCm39) |
Y115F |
probably benign |
Het |
| Zfp128 |
T |
A |
7: 12,624,314 (GRCm39) |
D227E |
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 |
|
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 |
|
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 |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation