Incidental Mutation 'R5910:Klhl6'
| ID |
460959 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klhl6
|
| Ensembl Gene |
ENSMUSG00000043008 |
| Gene Name |
kelch-like 6 |
| Synonyms |
|
| MMRRC Submission |
044107-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R5910 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
19765242-19801766 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 19775844 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 238
(M238T)
|
| 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: M238T
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000053023
Gene: ENSMUSG00000043008
AA Change: M238T
| 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 |
0.1656 |
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 97.0%
- 20x: 90.5%
|
| Validation Efficiency |
95% (93/98) |
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
G |
6: 121,645,076 (GRCm39) |
N976D |
probably damaging |
Het |
| Adamts1 |
G |
A |
16: 85,599,037 (GRCm39) |
R188W |
probably benign |
Het |
| Adcy4 |
A |
T |
14: 56,016,470 (GRCm39) |
V327D |
probably damaging |
Het |
| Alg8 |
T |
C |
7: 97,039,493 (GRCm39) |
I408T |
possibly damaging |
Het |
| Ankib1 |
T |
C |
5: 3,743,217 (GRCm39) |
S933G |
probably benign |
Het |
| Ap2a2 |
A |
G |
7: 141,178,691 (GRCm39) |
D106G |
probably damaging |
Het |
| Arhgap22 |
A |
T |
14: 33,088,572 (GRCm39) |
H351L |
probably damaging |
Het |
| Arhgef2 |
A |
G |
3: 88,542,327 (GRCm39) |
Y310C |
probably damaging |
Het |
| Atm |
A |
T |
9: 53,359,380 (GRCm39) |
S2804R |
probably damaging |
Het |
| Baz2b |
A |
G |
2: 59,807,770 (GRCm39) |
L163P |
possibly damaging |
Het |
| Bcl2l12 |
C |
T |
7: 44,645,967 (GRCm39) |
|
probably null |
Het |
| Cdh23 |
A |
G |
10: 60,213,600 (GRCm39) |
V1495A |
possibly damaging |
Het |
| Cep78 |
A |
G |
19: 15,946,492 (GRCm39) |
S447P |
possibly damaging |
Het |
| Cfap43 |
G |
A |
19: 47,768,710 (GRCm39) |
T778I |
possibly damaging |
Het |
| Cfap54 |
A |
T |
10: 92,901,043 (GRCm39) |
N170K |
probably damaging |
Het |
| Cmya5 |
A |
T |
13: 93,229,151 (GRCm39) |
L1979Q |
probably damaging |
Het |
| Col15a1 |
A |
T |
4: 47,289,514 (GRCm39) |
E846D |
probably damaging |
Het |
| Col5a1 |
A |
G |
2: 27,926,900 (GRCm39) |
K308E |
possibly damaging |
Het |
| Dcst1 |
T |
A |
3: 89,257,731 (GRCm39) |
T680S |
possibly damaging |
Het |
| Dsp |
T |
C |
13: 38,376,445 (GRCm39) |
L1410P |
possibly damaging |
Het |
| Edem3 |
T |
A |
1: 151,646,578 (GRCm39) |
|
probably null |
Het |
| Efcab3 |
A |
T |
11: 104,581,760 (GRCm39) |
E34V |
probably benign |
Het |
| Eif4e2 |
T |
A |
1: 87,148,696 (GRCm39) |
Y64N |
probably damaging |
Het |
| Fcgbp |
C |
T |
7: 27,784,928 (GRCm39) |
|
probably benign |
Het |
| Gm7275 |
A |
T |
16: 47,893,826 (GRCm39) |
|
noncoding transcript |
Het |
| Grin3b |
G |
T |
10: 79,808,855 (GRCm39) |
V202L |
probably benign |
Het |
| Gsdmc4 |
G |
A |
15: 63,767,101 (GRCm39) |
S223F |
possibly damaging |
Het |
| H2bc14 |
A |
G |
13: 21,906,470 (GRCm39) |
N68S |
probably benign |
Het |
| Hbp1 |
T |
C |
12: 31,987,651 (GRCm39) |
H183R |
probably benign |
Het |
| Hectd3 |
A |
G |
4: 116,859,331 (GRCm39) |
M652V |
probably benign |
Het |
| Hmgxb4 |
T |
C |
8: 75,726,193 (GRCm39) |
F13L |
probably benign |
Het |
| Hnrnpab |
T |
C |
11: 51,492,281 (GRCm39) |
K271R |
probably benign |
Het |
| Ilvbl |
A |
T |
10: 78,412,947 (GRCm39) |
K156N |
probably benign |
Het |
| Iqce |
A |
T |
5: 140,687,973 (GRCm39) |
|
probably benign |
Het |
| Itpr2 |
C |
A |
6: 146,231,069 (GRCm39) |
V1194L |
probably benign |
Het |
| Kif18b |
A |
G |
11: 102,804,370 (GRCm39) |
F384L |
probably benign |
Het |
| Klf14 |
A |
G |
6: 30,934,774 (GRCm39) |
Y287H |
probably benign |
Het |
| Lbp |
G |
A |
2: 158,166,477 (GRCm39) |
V344I |
probably benign |
Het |
| Lrp12 |
T |
C |
15: 39,739,439 (GRCm39) |
|
probably null |
Het |
| Mapk7 |
T |
A |
11: 61,384,447 (GRCm39) |
M1L |
probably benign |
Het |
| Muc5b |
A |
G |
7: 141,415,048 (GRCm39) |
T2665A |
possibly damaging |
Het |
| Ncln |
A |
T |
10: 81,331,912 (GRCm39) |
|
probably null |
Het |
| Nfxl1 |
T |
C |
5: 72,697,708 (GRCm39) |
R347G |
probably benign |
Het |
| Npnt |
C |
A |
3: 132,612,179 (GRCm39) |
C231F |
probably damaging |
Het |
| Nrap |
T |
A |
19: 56,330,743 (GRCm39) |
H1070L |
probably benign |
Het |
| Nrxn1 |
G |
T |
17: 91,011,746 (GRCm39) |
Y294* |
probably null |
Het |
| Or4c126 |
A |
G |
2: 89,823,782 (GRCm39) |
D15G |
probably benign |
Het |
| Or9s27 |
T |
C |
1: 92,516,429 (GRCm39) |
Y126H |
probably damaging |
Het |
| Otog |
A |
G |
7: 45,948,022 (GRCm39) |
H2341R |
possibly damaging |
Het |
| Paqr3 |
T |
C |
5: 97,243,887 (GRCm39) |
|
probably null |
Het |
| Pcdhb11 |
T |
C |
18: 37,556,796 (GRCm39) |
F709L |
probably benign |
Het |
| Phf12 |
G |
A |
11: 77,918,224 (GRCm39) |
R812Q |
probably damaging |
Het |
| Polr2a |
A |
T |
11: 69,637,696 (GRCm39) |
L216Q |
probably damaging |
Het |
| Polrmt |
A |
G |
10: 79,579,331 (GRCm39) |
L140P |
probably benign |
Het |
| Pou2f3 |
C |
T |
9: 43,045,769 (GRCm39) |
|
probably null |
Het |
| Prkcd |
A |
T |
14: 30,317,938 (GRCm39) |
N548K |
probably benign |
Het |
| Pygb |
A |
G |
2: 150,657,620 (GRCm39) |
D361G |
probably benign |
Het |
| Rpl9 |
A |
T |
5: 65,546,044 (GRCm39) |
|
probably benign |
Het |
| Rubcnl |
A |
T |
14: 75,272,912 (GRCm39) |
T211S |
probably benign |
Het |
| Rusc1 |
C |
T |
3: 88,999,027 (GRCm39) |
G252S |
probably benign |
Het |
| Scnn1g |
A |
G |
7: 121,337,318 (GRCm39) |
T60A |
probably damaging |
Het |
| Sipa1l2 |
T |
G |
8: 126,218,423 (GRCm39) |
T305P |
probably benign |
Het |
| Slc18b1 |
T |
A |
10: 23,700,565 (GRCm39) |
|
probably benign |
Het |
| Sp100 |
G |
A |
1: 85,608,861 (GRCm39) |
|
probably null |
Het |
| Tekt5 |
A |
T |
16: 10,205,017 (GRCm39) |
|
probably null |
Het |
| Tlnrd1 |
T |
A |
7: 83,533,693 (GRCm39) |
|
probably benign |
Het |
| Tpcn1 |
A |
G |
5: 120,685,462 (GRCm39) |
|
probably benign |
Het |
| Tpcn2 |
T |
C |
7: 144,814,719 (GRCm39) |
I461V |
probably benign |
Het |
| Traf3ip1 |
A |
G |
1: 91,455,467 (GRCm39) |
K643E |
probably damaging |
Het |
| Trim33 |
T |
C |
3: 103,251,892 (GRCm39) |
C914R |
probably damaging |
Het |
| Trip11 |
G |
A |
12: 101,849,738 (GRCm39) |
T1442I |
probably damaging |
Het |
| Ttll6 |
A |
G |
11: 96,026,415 (GRCm39) |
M107V |
possibly damaging |
Het |
| Uap1l1 |
A |
G |
2: 25,253,445 (GRCm39) |
|
probably benign |
Het |
| Ube3b |
T |
A |
5: 114,553,370 (GRCm39) |
I914N |
possibly damaging |
Het |
| Usp24 |
A |
G |
4: 106,237,665 (GRCm39) |
T1107A |
probably damaging |
Het |
| Usp40 |
A |
T |
1: 87,896,122 (GRCm39) |
C811* |
probably null |
Het |
| Vps11 |
T |
C |
9: 44,270,432 (GRCm39) |
|
probably null |
Het |
| Wdr91 |
A |
T |
6: 34,868,422 (GRCm39) |
I433N |
possibly damaging |
Het |
| Zfp770 |
G |
C |
2: 114,026,713 (GRCm39) |
S452* |
probably null |
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 |
|
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'- GGTACATCCTGGCTTCCTGAAG -3'
(R):5'- GCCAGCTTTCTCACAGAAGC -3'
Sequencing Primer
(F):5'- CTGAAGCAGCGGGAAGACTTC -3'
(R):5'- GGCTGGCAGACACACATTCTTTG -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation