Incidental Mutation 'IGL03046:Klhl6'
ID |
391879 |
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: 0.072)
|
Stock # |
IGL03046 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
19765242-19801766 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 19801639 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 39
(I39V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000053023
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058839]
[ENSMUST00000166801]
|
AlphaFold |
Q6V595 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000058839
AA Change: I39V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000053023 Gene: ENSMUSG00000043008 AA Change: I39V
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: ENSMUST00000165530
|
SMART Domains |
Protein: ENSMUSP00000133197 Gene: ENSMUSG00000043008
Domain | Start | End | E-Value | Type |
Pfam:BTB
|
36 |
73 |
1.9e-10 |
PFAM |
|
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 |
|
Meta Mutation Damage Score |
0.0626 |
Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
Validation Efficiency |
98% (54/55) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
T |
A |
6: 121,636,282 (GRCm39) |
M717K |
probably benign |
Het |
Acad12 |
C |
A |
5: 121,748,029 (GRCm39) |
V130L |
probably benign |
Het |
Cdca2 |
T |
C |
14: 67,937,471 (GRCm39) |
|
probably benign |
Het |
Cfap100 |
T |
A |
6: 90,389,332 (GRCm39) |
|
probably null |
Het |
Cfap43 |
T |
A |
19: 47,804,302 (GRCm39) |
E298V |
probably damaging |
Het |
Cic |
C |
T |
7: 24,990,500 (GRCm39) |
P1971S |
probably damaging |
Het |
Cnga1 |
T |
C |
5: 72,761,681 (GRCm39) |
D611G |
probably benign |
Het |
Daglb |
C |
T |
5: 143,486,948 (GRCm39) |
P522L |
probably damaging |
Het |
Dclre1b |
A |
T |
3: 103,710,597 (GRCm39) |
I438K |
probably benign |
Het |
Ddx5 |
C |
A |
11: 106,675,871 (GRCm39) |
R273M |
probably damaging |
Het |
Eepd1 |
C |
T |
9: 25,393,981 (GRCm39) |
L82F |
probably damaging |
Het |
Emilin3 |
G |
A |
2: 160,750,649 (GRCm39) |
Q320* |
probably null |
Het |
Exoc6 |
T |
C |
19: 37,582,217 (GRCm39) |
|
probably null |
Het |
Fcna |
G |
C |
2: 25,520,693 (GRCm39) |
|
probably benign |
Het |
Foxs1 |
T |
C |
2: 152,774,484 (GRCm39) |
T190A |
probably benign |
Het |
Gje1 |
A |
G |
10: 14,592,374 (GRCm39) |
L136P |
probably damaging |
Het |
Hdac11 |
A |
G |
6: 91,145,827 (GRCm39) |
T176A |
probably benign |
Het |
Hhip |
C |
A |
8: 80,698,967 (GRCm39) |
V700L |
probably damaging |
Het |
Hps5 |
T |
C |
7: 46,426,463 (GRCm39) |
|
probably benign |
Het |
Itgb1bp1 |
T |
C |
12: 21,329,436 (GRCm39) |
S13G |
unknown |
Het |
Kcna1 |
A |
T |
6: 126,619,148 (GRCm39) |
L391M |
possibly damaging |
Het |
Kif1a |
C |
T |
1: 93,010,128 (GRCm39) |
V6M |
probably damaging |
Het |
Lpcat4 |
C |
A |
2: 112,072,334 (GRCm39) |
|
silent |
Het |
Ltn1 |
A |
T |
16: 87,202,509 (GRCm39) |
S1047R |
probably benign |
Het |
Mdn1 |
A |
G |
4: 32,694,495 (GRCm39) |
T1073A |
possibly damaging |
Het |
Megf10 |
G |
T |
18: 57,421,055 (GRCm39) |
A898S |
possibly damaging |
Het |
Mtmr6 |
T |
C |
14: 60,529,577 (GRCm39) |
|
probably null |
Het |
Mtnr1b |
T |
C |
9: 15,774,059 (GRCm39) |
I333M |
probably benign |
Het |
Muc5ac |
G |
T |
7: 141,348,950 (GRCm39) |
C463F |
probably benign |
Het |
Mycbpap |
G |
T |
11: 94,396,543 (GRCm39) |
T99N |
possibly damaging |
Het |
Myo7a |
C |
T |
7: 97,728,534 (GRCm39) |
C824Y |
probably damaging |
Het |
N4bp2 |
A |
G |
5: 65,948,303 (GRCm39) |
H311R |
probably damaging |
Het |
Nepro |
T |
A |
16: 44,552,509 (GRCm39) |
|
probably benign |
Het |
Nop56 |
A |
T |
2: 130,117,489 (GRCm39) |
|
probably benign |
Het |
Nup210 |
A |
G |
6: 90,995,978 (GRCm39) |
|
probably benign |
Het |
Or4d10c |
A |
G |
19: 12,065,391 (GRCm39) |
V255A |
probably damaging |
Het |
Or7g25 |
T |
A |
9: 19,160,441 (GRCm39) |
I85F |
probably damaging |
Het |
Pcna |
C |
T |
2: 132,093,673 (GRCm39) |
E109K |
probably benign |
Het |
Pgap6 |
A |
T |
17: 26,338,414 (GRCm39) |
|
probably null |
Het |
Pkhd1 |
T |
G |
1: 20,607,589 (GRCm39) |
D1089A |
possibly damaging |
Het |
Plb1 |
A |
G |
5: 32,485,756 (GRCm39) |
R847G |
probably damaging |
Het |
Pou6f2 |
A |
G |
13: 18,303,612 (GRCm39) |
|
probably benign |
Het |
Prss43 |
C |
G |
9: 110,660,049 (GRCm39) |
S371C |
probably benign |
Het |
Ralgapa1 |
A |
T |
12: 55,741,942 (GRCm39) |
V1322D |
probably damaging |
Het |
Rrp8 |
A |
G |
7: 105,384,109 (GRCm39) |
V131A |
probably benign |
Het |
Rtp1 |
A |
T |
16: 23,248,044 (GRCm39) |
K39M |
probably benign |
Het |
Sanbr |
A |
T |
11: 23,565,150 (GRCm39) |
L279Q |
possibly damaging |
Het |
Slc1a6 |
A |
G |
10: 78,636,008 (GRCm39) |
I358V |
probably benign |
Het |
Slc25a15 |
T |
C |
8: 22,885,726 (GRCm39) |
|
probably benign |
Het |
Slc43a1 |
G |
A |
2: 84,684,897 (GRCm39) |
|
probably benign |
Het |
Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
Spock3 |
T |
G |
8: 63,802,018 (GRCm39) |
|
probably null |
Het |
Tbc1d7 |
T |
C |
13: 43,308,162 (GRCm39) |
|
probably null |
Het |
Tmem184c |
C |
T |
8: 78,326,286 (GRCm39) |
W260* |
probably null |
Het |
Trnau1ap |
A |
G |
4: 132,039,252 (GRCm39) |
Y265H |
probably damaging |
Het |
Usp25 |
T |
C |
16: 76,871,754 (GRCm39) |
F363S |
probably damaging |
Het |
Vcl |
T |
C |
14: 21,072,085 (GRCm39) |
F817L |
possibly damaging |
Het |
Vmn1r13 |
T |
A |
6: 57,187,717 (GRCm39) |
M292K |
probably benign |
Het |
Xpc |
G |
T |
6: 91,487,463 (GRCm39) |
A89E |
probably 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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGCAATATACATGCAGTTTGACTCG -3'
(R):5'- GCAGGAAATCCGTTCAGCTTC -3'
Sequencing Primer
(F):5'- GCAGTTTGACTCGGATTCAAAGC -3'
(R):5'- GGAAATCCGTTCAGCTTCTGCAG -3'
|
Posted On |
2016-06-07 |