Incidental Mutation 'R7957:Klhl6'
| ID |
649916 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klhl6
|
| Ensembl Gene |
ENSMUSG00000043008 |
| Gene Name |
kelch-like 6 |
| Synonyms |
|
| MMRRC Submission |
046001-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R7957 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
19765242-19801766 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 19768201 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 448
(E448G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053023
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058839]
|
| AlphaFold |
Q6V595 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000058839
AA Change: E448G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000053023
Gene: ENSMUSG00000043008
AA Change: E448G
| 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 |
0.1687 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (46/47) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
A |
G |
11: 109,982,439 (GRCm39) |
M1T |
probably null |
Het |
| Abhd2 |
T |
A |
7: 78,975,194 (GRCm39) |
M128K |
probably benign |
Het |
| Adamts12 |
A |
G |
15: 11,317,298 (GRCm39) |
T1333A |
possibly damaging |
Het |
| Alg8 |
A |
G |
7: 97,040,131 (GRCm39) |
T438A |
probably benign |
Het |
| Ccn3 |
G |
T |
15: 54,609,734 (GRCm39) |
S78I |
possibly damaging |
Het |
| Cebpa |
A |
G |
7: 34,819,867 (GRCm39) |
I342V |
possibly damaging |
Het |
| Chd9 |
T |
C |
8: 91,778,326 (GRCm39) |
M2779T |
probably damaging |
Het |
| Cnot3 |
C |
A |
7: 3,661,221 (GRCm39) |
P577T |
probably benign |
Het |
| Col17a1 |
T |
C |
19: 47,649,556 (GRCm39) |
D755G |
probably damaging |
Het |
| Col5a3 |
A |
G |
9: 20,685,347 (GRCm39) |
V1443A |
unknown |
Het |
| Crygs |
C |
T |
16: 22,624,082 (GRCm39) |
R175H |
probably damaging |
Het |
| Fam193a |
A |
G |
5: 34,619,430 (GRCm39) |
D1031G |
probably damaging |
Het |
| Fam83b |
T |
A |
9: 76,399,267 (GRCm39) |
H612L |
probably benign |
Het |
| Gabrr2 |
A |
G |
4: 33,081,410 (GRCm39) |
T149A |
probably damaging |
Het |
| Gm3667 |
T |
C |
14: 18,269,663 (GRCm39) |
N156D |
probably benign |
Het |
| Hpcal1 |
T |
A |
12: 17,841,171 (GRCm39) |
L183Q |
probably damaging |
Het |
| Ilf2 |
G |
T |
3: 90,394,777 (GRCm39) |
E342* |
probably null |
Het |
| Ints13 |
A |
G |
6: 146,452,264 (GRCm39) |
S652P |
probably damaging |
Het |
| Kansl2 |
C |
A |
15: 98,422,499 (GRCm39) |
E356D |
probably benign |
Het |
| Mmp14 |
A |
G |
14: 54,673,707 (GRCm39) |
I124V |
probably benign |
Het |
| Morc2b |
A |
T |
17: 33,354,747 (GRCm39) |
D1008E |
probably benign |
Het |
| Muc16 |
A |
C |
9: 18,554,767 (GRCm39) |
V3842G |
unknown |
Het |
| Myo9b |
A |
T |
8: 71,807,405 (GRCm39) |
I1614F |
probably benign |
Het |
| Nipa1 |
A |
T |
7: 55,629,547 (GRCm39) |
C189S |
probably damaging |
Het |
| Ntn4 |
T |
C |
10: 93,480,335 (GRCm39) |
|
probably benign |
Het |
| Or12k5 |
A |
G |
2: 36,894,972 (GRCm39) |
I218T |
probably benign |
Het |
| Or2t29 |
A |
G |
11: 58,433,624 (GRCm39) |
L239P |
probably damaging |
Het |
| Or3a4 |
A |
C |
11: 73,944,982 (GRCm39) |
L201R |
probably damaging |
Het |
| Or4x13 |
A |
T |
2: 90,231,395 (GRCm39) |
Y130F |
probably damaging |
Het |
| Or8g17 |
T |
G |
9: 38,930,349 (GRCm39) |
I163L |
probably benign |
Het |
| Pank1 |
T |
A |
19: 34,791,096 (GRCm39) |
H528L |
probably damaging |
Het |
| Pappa2 |
A |
T |
1: 158,589,131 (GRCm39) |
L1698* |
probably null |
Het |
| Park7 |
A |
G |
4: 150,988,341 (GRCm39) |
S85P |
probably damaging |
Het |
| Pik3r4 |
A |
G |
9: 105,564,408 (GRCm39) |
D1334G |
probably damaging |
Het |
| Pira1 |
C |
G |
7: 3,740,319 (GRCm39) |
A301P |
probably damaging |
Het |
| Rapgef2 |
T |
C |
3: 79,122,276 (GRCm39) |
E30G |
probably benign |
Het |
| Rhbdf1 |
A |
G |
11: 32,160,523 (GRCm39) |
F676L |
probably damaging |
Het |
| Rsf1 |
GGC |
GGCCACGGCAGC |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
| Scd4 |
G |
T |
19: 44,329,687 (GRCm39) |
M219I |
probably benign |
Het |
| Slfn5 |
T |
A |
11: 82,847,613 (GRCm39) |
I166N |
probably benign |
Het |
| Smim22 |
A |
T |
16: 4,826,089 (GRCm39) |
D85V |
probably damaging |
Het |
| Socs2 |
T |
C |
10: 95,250,812 (GRCm39) |
E7G |
probably benign |
Het |
| Thumpd2 |
T |
C |
17: 81,334,157 (GRCm39) |
E477G |
probably benign |
Het |
| Tlr12 |
C |
T |
4: 128,510,483 (GRCm39) |
G589D |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,595,199 (GRCm39) |
I20317K |
probably damaging |
Het |
| Ttyh2 |
A |
G |
11: 114,599,690 (GRCm39) |
|
probably null |
Het |
| Ugt2a3 |
T |
A |
5: 87,475,050 (GRCm39) |
D398V |
probably damaging |
Het |
| Vmn2r88 |
A |
T |
14: 51,650,589 (GRCm39) |
M101L |
|
Het |
| Vmn2r93 |
A |
T |
17: 18,545,954 (GRCm39) |
R609* |
probably null |
Het |
| Zfp473 |
C |
T |
7: 44,381,916 (GRCm39) |
E806K |
probably damaging |
Het |
| Zfp93 |
T |
C |
7: 23,974,999 (GRCm39) |
L328P |
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 |
|
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 |
|
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'- TGGCTAGCACAGAACAATGC -3'
(R):5'- CAAAGAAACACAGCATGATGTTTGG -3'
Sequencing Primer
(F):5'- CAATGCCTATACAGAGCCCTG -3'
(R):5'- CACAGCATGATGTTTGGAAGTAC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation