Incidental Mutation 'R4833:Klhl6'
ID |
373017 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Klhl6
|
Ensembl Gene |
ENSMUSG00000043008 |
Gene Name |
kelch-like 6 |
Synonyms |
|
MMRRC Submission |
042449-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.072)
|
Stock # |
R4833 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
19765242-19801766 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 19775889 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 223
(D223V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000053023
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058839]
[ENSMUST00000166801]
|
AlphaFold |
Q6V595 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000058839
AA Change: D223V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000053023 Gene: ENSMUSG00000043008 AA Change: D223V
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
|
Meta Mutation Damage Score |
0.9688 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.8%
|
Validation Efficiency |
99% (74/75) |
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810055G02Rik |
C |
A |
19: 3,766,872 (GRCm39) |
T153K |
possibly damaging |
Het |
Abca5 |
A |
C |
11: 110,170,142 (GRCm39) |
Y1318D |
probably benign |
Het |
Adam18 |
A |
G |
8: 25,164,117 (GRCm39) |
I22T |
probably benign |
Het |
Adgrv1 |
T |
A |
13: 81,708,963 (GRCm39) |
H1147L |
possibly damaging |
Het |
Ankrd2 |
T |
C |
19: 42,032,296 (GRCm39) |
|
probably null |
Het |
Bdkrb2 |
T |
C |
12: 105,557,917 (GRCm39) |
W53R |
probably benign |
Het |
Blm |
T |
A |
7: 80,116,574 (GRCm39) |
I1111L |
probably benign |
Het |
Bltp1 |
A |
G |
3: 37,019,117 (GRCm39) |
I2007V |
probably damaging |
Het |
Bmp3 |
T |
G |
5: 99,003,066 (GRCm39) |
L32R |
probably damaging |
Het |
Cdh23 |
T |
G |
10: 60,220,817 (GRCm39) |
E1312A |
probably damaging |
Het |
Ceacam5 |
C |
T |
7: 17,486,183 (GRCm39) |
T560M |
probably benign |
Het |
Cimap1a |
T |
C |
7: 140,428,191 (GRCm39) |
M1T |
probably null |
Het |
Cmtm8 |
C |
A |
9: 114,625,233 (GRCm39) |
R66I |
probably benign |
Het |
Cnbd1 |
A |
G |
4: 18,862,120 (GRCm39) |
Y357H |
probably damaging |
Het |
Col4a4 |
A |
T |
1: 82,507,323 (GRCm39) |
V252E |
unknown |
Het |
Col6a4 |
A |
T |
9: 105,949,178 (GRCm39) |
M819K |
probably benign |
Het |
Cwf19l2 |
T |
C |
9: 3,430,783 (GRCm39) |
S372P |
probably benign |
Het |
Daam2 |
A |
T |
17: 49,797,173 (GRCm39) |
I204N |
possibly damaging |
Het |
Dock6 |
T |
C |
9: 21,755,576 (GRCm39) |
D216G |
probably damaging |
Het |
Epha5 |
C |
T |
5: 84,253,750 (GRCm39) |
D548N |
possibly damaging |
Het |
Erich2 |
T |
C |
2: 70,364,636 (GRCm39) |
Y311H |
possibly damaging |
Het |
Gm3985 |
A |
G |
8: 33,380,505 (GRCm39) |
|
noncoding transcript |
Het |
Gnb1 |
A |
G |
4: 155,627,524 (GRCm39) |
T102A |
possibly damaging |
Het |
Hcfc2 |
C |
T |
10: 82,544,980 (GRCm39) |
A204V |
probably null |
Het |
Hnrnpu |
T |
C |
1: 178,161,459 (GRCm39) |
|
probably benign |
Het |
Htt |
A |
G |
5: 35,009,569 (GRCm39) |
T1517A |
probably damaging |
Het |
Kpna6 |
A |
G |
4: 129,551,572 (GRCm39) |
S71P |
possibly damaging |
Het |
Lama3 |
A |
G |
18: 12,574,188 (GRCm39) |
D590G |
probably benign |
Het |
Lipt1 |
T |
G |
1: 37,914,610 (GRCm39) |
L222R |
probably damaging |
Het |
Lrrc41 |
A |
G |
4: 115,950,374 (GRCm39) |
|
probably benign |
Het |
Lrrc59 |
T |
C |
11: 94,525,498 (GRCm39) |
V98A |
probably benign |
Het |
Mast4 |
A |
G |
13: 102,910,692 (GRCm39) |
|
probably null |
Het |
Mdc1 |
C |
T |
17: 36,161,286 (GRCm39) |
S733F |
probably benign |
Het |
Mknk1 |
C |
T |
4: 115,735,383 (GRCm39) |
|
probably benign |
Het |
Mtmr7 |
A |
G |
8: 41,043,505 (GRCm39) |
F141S |
probably damaging |
Het |
Myo15b |
A |
G |
11: 115,778,428 (GRCm39) |
D1G |
possibly damaging |
Het |
Or7c70 |
T |
G |
10: 78,683,409 (GRCm39) |
L113F |
probably damaging |
Het |
Phkb |
T |
A |
8: 86,628,540 (GRCm39) |
V183E |
probably damaging |
Het |
Pola2 |
T |
C |
19: 6,003,892 (GRCm39) |
Y161C |
probably damaging |
Het |
Psen1 |
G |
A |
12: 83,778,552 (GRCm39) |
V412I |
probably benign |
Het |
Psmc4 |
C |
A |
7: 27,746,937 (GRCm39) |
G77V |
probably damaging |
Het |
Psmd3 |
A |
G |
11: 98,578,586 (GRCm39) |
Y207C |
probably damaging |
Het |
Pxk |
T |
A |
14: 8,130,653 (GRCm38) |
M84K |
probably damaging |
Het |
Rab44 |
A |
C |
17: 29,355,311 (GRCm39) |
Q19P |
probably damaging |
Het |
Rbks |
A |
G |
5: 31,781,859 (GRCm39) |
Y314H |
probably benign |
Het |
Rftn2 |
T |
C |
1: 55,253,399 (GRCm39) |
D68G |
possibly damaging |
Het |
Rims2 |
T |
A |
15: 39,399,310 (GRCm39) |
S838R |
probably damaging |
Het |
Sdc4 |
A |
T |
2: 164,273,138 (GRCm39) |
D57E |
probably damaging |
Het |
Slfn14 |
A |
G |
11: 83,169,982 (GRCm39) |
L554P |
probably damaging |
Het |
Spink2 |
G |
T |
5: 77,353,239 (GRCm39) |
D83E |
possibly damaging |
Het |
Srsf4 |
C |
T |
4: 131,627,413 (GRCm39) |
|
probably benign |
Het |
Taar8b |
A |
T |
10: 23,968,030 (GRCm39) |
S55T |
possibly damaging |
Het |
Tbca |
A |
G |
13: 94,968,918 (GRCm39) |
E35G |
probably benign |
Het |
Tmc5 |
C |
A |
7: 118,228,052 (GRCm39) |
H307Q |
probably benign |
Het |
Tmem169 |
A |
G |
1: 72,337,311 (GRCm39) |
D82G |
probably benign |
Het |
Tmem72 |
T |
C |
6: 116,675,319 (GRCm39) |
T58A |
probably benign |
Het |
Ttc7 |
C |
T |
17: 87,641,749 (GRCm39) |
P449S |
probably damaging |
Het |
Ttf2 |
T |
C |
3: 100,868,722 (GRCm39) |
E449G |
probably benign |
Het |
Ubr4 |
C |
A |
4: 139,129,857 (GRCm39) |
T659K |
probably damaging |
Het |
Wdr1 |
A |
G |
5: 38,704,372 (GRCm39) |
Y98H |
probably damaging |
Het |
Wfikkn2 |
A |
G |
11: 94,129,878 (GRCm39) |
Y88H |
probably benign |
Het |
Zfp384 |
A |
T |
6: 125,007,811 (GRCm39) |
H247L |
probably damaging |
Het |
Zfp526 |
C |
T |
7: 24,925,295 (GRCm39) |
A518V |
probably damaging |
Het |
Zfp788 |
T |
A |
7: 41,296,992 (GRCm39) |
H47Q |
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 |
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 |
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'- TGGTACATCCTGGCTTCCTG -3'
(R):5'- CTCACAGAAGCATTGAACCCGG -3'
Sequencing Primer
(F):5'- GACTTCAGGGCACTGTCTAATAAG -3'
(R):5'- GCATTGAACCCGGAAAATTGTATTGG -3'
|
Posted On |
2016-03-01 |